Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.18145984C>A | CA398606769 | MYO15A | c.6386C>A (p.Ala2129Glu) c.6326C>A (p.Ala2109Glu) c.6380C>A (p.Ala2127Glu) n.6985C>A c.6389C>A (p.Ala2130Glu) c.6213+1392C>A (n.6213+1392C>A) | |
17 | g.18145984C>G | CA398606771 | MYO15A | c.6386C>G (p.Ala2129Gly) c.6326C>G (p.Ala2109Gly) c.6380C>G (p.Ala2127Gly) n.6985C>G c.6389C>G (p.Ala2130Gly) c.6213+1392C>G (n.6213+1392C>G) | |
17 | g.18145984C>T | CA398606772 | MYO15A | c.6386C>T (p.Ala2129Val) c.6326C>T (p.Ala2109Val) c.6380C>T (p.Ala2127Val) n.6985C>T c.6389C>T (p.Ala2130Val) c.6213+1392C>T (n.6213+1392C>T) | gnomAD v4 |
17 | g.18145985A>C | CA498430489 | MYO15A | c.6387A>C (p.Ala2129=) c.6327A>C (p.Ala2109=) c.6381A>C (p.Ala2127=) n.6986A>C c.6390A>C (p.Ala2130=) c.6213+1393A>C (n.6213+1393A>C) | |
17 | g.18145985A>G | CA498430491 | MYO15A | c.6387A>G (p.Ala2129=) c.6327A>G (p.Ala2109=) c.6381A>G (p.Ala2127=) n.6986A>G c.6390A>G (p.Ala2130=) c.6213+1393A>G (n.6213+1393A>G) | |
17 | g.18145985A>T | CA498430490 | MYO15A | c.6387A>T (p.Ala2129=) c.6327A>T (p.Ala2109=) c.6381A>T (p.Ala2127=) n.6986A>T c.6390A>T (p.Ala2130=) c.6213+1393A>T (n.6213+1393A>T) | COSMIC |
17 | g.18145986C>A | CA398606779 | MYO15A | c.6388C>A (p.Gln2130Lys) c.6328C>A (p.Gln2110Lys) c.6382C>A (p.Gln2128Lys) n.6987C>A c.6391C>A (p.Gln2131Lys) c.6213+1394C>A (n.6213+1394C>A) | |
17 | g.18145986C>G | CA398606776 | MYO15A | c.6388C>G (p.Gln2130Glu) c.6328C>G (p.Gln2110Glu) c.6382C>G (p.Gln2128Glu) n.6987C>G c.6391C>G (p.Gln2131Glu) c.6213+1394C>G (n.6213+1394C>G) | |
17 | g.18145986C>T | CA398606777 | MYO15A | c.6388C>T (p.Gln2130Ter) c.6328C>T (p.Gln2110Ter) c.6382C>T (p.Gln2128Ter) n.6987C>T c.6391C>T (p.Gln2131Ter) c.6213+1394C>T (n.6213+1394C>T) | gnomAD v4 |
17 | g.18145988_18145995del | CA2636448338 | MYO15A | c.6390_6397del (p.Leu2131SerfsTer12) c.6330_6337del (p.Leu2111SerfsTer12) c.6330_6337del (p.Leu2111SerfsTer?) c.6384_6391del (p.Leu2129SerfsTer12) n.6989_6996del c.6393_6400del (p.Leu2132SerfsTer12) c.6213+1396_6213+1403del (n.6213+1396_6213+1403del) | gnomAD v4 |
17 | g.18145987A>C | CA398606781 | MYO15A | c.6389A>C (p.Gln2130Pro) c.6329A>C (p.Gln2110Pro) c.6383A>C (p.Gln2128Pro) n.6988A>C c.6392A>C (p.Gln2131Pro) c.6213+1395A>C (n.6213+1395A>C) | |
17 | g.18145987A>G | CA398606783 | MYO15A | c.6389A>G (p.Gln2130Arg) c.6329A>G (p.Gln2110Arg) c.6383A>G (p.Gln2128Arg) n.6988A>G c.6392A>G (p.Gln2131Arg) c.6213+1395A>G (n.6213+1395A>G) | gnomAD v4 |
17 | g.18145987A>T | CA398606785 | MYO15A | c.6389A>T (p.Gln2130Leu) c.6329A>T (p.Gln2110Leu) c.6383A>T (p.Gln2128Leu) n.6988A>T c.6392A>T (p.Gln2131Leu) c.6213+1395A>T (n.6213+1395A>T) | |
17 | g.18145988G>A | CA498430492 | MYO15A | c.6390G>A (p.Gln2130=) c.6330G>A (p.Gln2110=) c.6384G>A (p.Gln2128=) n.6989G>A c.6393G>A (p.Gln2131=) c.6213+1396G>A (n.6213+1396G>A) | |
17 | g.18145988G>C | CA398606787 | MYO15A | c.6390G>C (p.Gln2130His) c.6330G>C (p.Gln2110His) c.6384G>C (p.Gln2128His) n.6989G>C c.6393G>C (p.Gln2131His) c.6213+1396G>C (n.6213+1396G>C) | |
17 | g.18145988G>T | CA398606789 | MYO15A | c.6390G>T (p.Gln2130His) c.6330G>T (p.Gln2110His) c.6384G>T (p.Gln2128His) n.6989G>T c.6393G>T (p.Gln2131His) c.6213+1396G>T (n.6213+1396G>T) | |
17 | g.18145989C>A | CA398606790 | MYO15A | c.6391C>A (p.Leu2131Met) c.6331C>A (p.Leu2111Met) c.6385C>A (p.Leu2129Met) n.6990C>A c.6394C>A (p.Leu2132Met) c.6213+1397C>A (n.6213+1397C>A) | |
17 | g.18145989C= | CA2250850343 | MYO15A | c.6391C= (p.Leu2131=) c.6331C= (p.Leu2111=) c.6385C= (p.Leu2129=) n.6990C= c.6394C= (p.Leu2132=) c.6213+1397C= (n.6213+1397C=) | |
17 | g.18145989C>G | CA398606792 | MYO15A | c.6391C>G (p.Leu2131Val) c.6331C>G (p.Leu2111Val) c.6385C>G (p.Leu2129Val) n.6990C>G c.6394C>G (p.Leu2132Val) c.6213+1397C>G (n.6213+1397C>G) | |
17 | g.18145989C>T | CA498430493 | MYO15A | c.6391C>T (p.Leu2131=) c.6331C>T (p.Leu2111=) c.6385C>T (p.Leu2129=) n.6990C>T c.6394C>T (p.Leu2132=) c.6213+1397C>T (n.6213+1397C>T) | dbSNP |
17 | g.18145990T>A | CA398606795 | MYO15A | c.6392T>A (p.Leu2131Gln) c.6332T>A (p.Leu2111Gln) c.6386T>A (p.Leu2129Gln) n.6991T>A c.6395T>A (p.Leu2132Gln) c.6213+1398T>A (n.6213+1398T>A) | |
17 | g.18145990T>C | CA398606796 | MYO15A | c.6392T>C (p.Leu2131Pro) c.6332T>C (p.Leu2111Pro) c.6386T>C (p.Leu2129Pro) n.6991T>C c.6395T>C (p.Leu2132Pro) c.6213+1398T>C (n.6213+1398T>C) | |
17 | g.18145990T>G | CA398606799 | MYO15A | c.6392T>G (p.Leu2131Arg) c.6332T>G (p.Leu2111Arg) c.6386T>G (p.Leu2129Arg) n.6991T>G c.6395T>G (p.Leu2132Arg) c.6213+1398T>G (n.6213+1398T>G) | |
17 | g.18145991G>A | CA498430494 | MYO15A | c.6393G>A (p.Leu2131=) c.6333G>A (p.Leu2111=) c.6387G>A (p.Leu2129=) n.6992G>A c.6396G>A (p.Leu2132=) c.6213+1399G>A (n.6213+1399G>A) | gnomAD v4 |
17 | g.18145991G>C | CA498430495 | MYO15A | c.6393G>C (p.Leu2131=) c.6333G>C (p.Leu2111=) c.6387G>C (p.Leu2129=) n.6992G>C c.6396G>C (p.Leu2132=) c.6213+1399G>C (n.6213+1399G>C) | |
17 | g.18145991G>T | CA498430496 | MYO15A | c.6393G>T (p.Leu2131=) c.6333G>T (p.Leu2111=) c.6387G>T (p.Leu2129=) n.6992G>T c.6396G>T (p.Leu2132=) c.6213+1399G>T (n.6213+1399G>T) | |
17 | g.18145992G>A | CA398606805 | MYO15A | c.6394G>A (p.Ala2132Thr) c.6334G>A (p.Ala2112Thr) c.6388G>A (p.Ala2130Thr) n.6993G>A c.6397G>A (p.Ala2133Thr) c.6213+1400G>A (n.6213+1400G>A) | |
17 | g.18145992G>C | CA398606803 | MYO15A | c.6394G>C (p.Ala2132Pro) c.6334G>C (p.Ala2112Pro) c.6388G>C (p.Ala2130Pro) n.6993G>C c.6397G>C (p.Ala2133Pro) c.6213+1400G>C (n.6213+1400G>C) | |
17 | g.18145992G>T | CA398606801 | MYO15A | c.6394G>T (p.Ala2132Ser) c.6334G>T (p.Ala2112Ser) c.6388G>T (p.Ala2130Ser) n.6993G>T c.6397G>T (p.Ala2133Ser) c.6213+1400G>T (n.6213+1400G>T) | |
17 | g.18145993C>A | CA398606806 | MYO15A | c.6395C>A (p.Ala2132Asp) c.6335C>A (p.Ala2112Asp) c.6389C>A (p.Ala2130Asp) n.6994C>A c.6398C>A (p.Ala2133Asp) c.6213+1401C>A (n.6213+1401C>A) | |
17 | g.18145993C>G | CA398606807 | MYO15A | c.6395C>G (p.Ala2132Gly) c.6335C>G (p.Ala2112Gly) c.6389C>G (p.Ala2130Gly) n.6994C>G c.6398C>G (p.Ala2133Gly) c.6213+1401C>G (n.6213+1401C>G) | |
17 | g.18145993C>T | CA398606809 | MYO15A | c.6395C>T (p.Ala2132Val) c.6335C>T (p.Ala2112Val) c.6389C>T (p.Ala2130Val) n.6994C>T c.6398C>T (p.Ala2133Val) c.6213+1401C>T (n.6213+1401C>T) | |
17 | g.18145994C>A | CA498430498 | MYO15A | c.6396C>A (p.Ala2132=) c.6336C>A (p.Ala2112=) c.6390C>A (p.Ala2130=) n.6995C>A c.6399C>A (p.Ala2133=) c.6213+1402C>A (n.6213+1402C>A) | |
17 | g.18145994C>G | CA498430499 | MYO15A | c.6396C>G (p.Ala2132=) c.6336C>G (p.Ala2112=) c.6390C>G (p.Ala2130=) n.6995C>G c.6399C>G (p.Ala2133=) c.6213+1402C>G (n.6213+1402C>G) | |
17 | g.18145994C>T | CA498430497 | MYO15A | c.6396C>T (p.Ala2132=) c.6336C>T (p.Ala2112=) c.6390C>T (p.Ala2130=) n.6995C>T c.6399C>T (p.Ala2133=) c.6213+1402C>T (n.6213+1402C>T) | dbSNP |
17 | g.18145995A= | CA2250850344 | MYO15A | c.6397A= (p.Asn2133=) c.6337A= (p.Asn2113=) c.6391A= (p.Asn2131=) n.6996A= c.6400A= (p.Asn2134=) c.6213+1403A= (n.6213+1403A=) | |
17 | g.18145995A>C | CA398606811 | MYO15A | c.6397A>C (p.Asn2133His) c.6337A>C (p.Asn2113His) c.6391A>C (p.Asn2131His) n.6996A>C c.6400A>C (p.Asn2134His) c.6213+1403A>C (n.6213+1403A>C) | |
17 | g.18145995A>G | CA8424584 | MYO15A | c.6397A>G (p.Asn2133Asp) c.6337A>G (p.Asn2113Asp) c.6391A>G (p.Asn2131Asp) n.6996A>G c.6400A>G (p.Asn2134Asp) c.6213+1403A>G (n.6213+1403A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18145995A>T | CA398606814 | MYO15A | c.6397A>T (p.Asn2133Tyr) c.6337A>T (p.Asn2113Tyr) c.6391A>T (p.Asn2131Tyr) n.6996A>T c.6400A>T (p.Asn2134Tyr) c.6213+1403A>T (n.6213+1403A>T) | |
17 | g.18145996A= | CA2250850345 | MYO15A | c.6398A= (p.Asn2133=) c.6338A= (p.Asn2113=) c.6392A= (p.Asn2131=) n.6997A= c.6401A= (p.Asn2134=) c.6213+1404A= (n.6213+1404A=) | |
17 | g.18145996A>C | CA398606819 | MYO15A | c.6398A>C (p.Asn2133Thr) c.6338A>C (p.Asn2113Thr) c.6392A>C (p.Asn2131Thr) n.6997A>C c.6401A>C (p.Asn2134Thr) c.6213+1404A>C (n.6213+1404A>C) | |
17 | g.18145996A>G | CA8424585 | MYO15A | c.6398A>G (p.Asn2133Ser) c.6338A>G (p.Asn2113Ser) c.6392A>G (p.Asn2131Ser) n.6997A>G c.6401A>G (p.Asn2134Ser) c.6213+1404A>G (n.6213+1404A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18145996A>T | CA398606817 | MYO15A | c.6398A>T (p.Asn2133Ile) c.6338A>T (p.Asn2113Ile) c.6392A>T (p.Asn2131Ile) n.6997A>T c.6401A>T (p.Asn2134Ile) c.6213+1404A>T (n.6213+1404A>T) | |
17 | g.18145997T>A | CA398606821 | MYO15A | c.6399T>A (p.Asn2133Lys) c.6339T>A (p.Asn2113Lys) c.6393T>A (p.Asn2131Lys) n.6998T>A c.6402T>A (p.Asn2134Lys) c.6213+1405T>A (n.6213+1405T>A) | |
17 | g.18145997T>C | CA498430500 | MYO15A | c.6399T>C (p.Asn2133=) c.6339T>C (p.Asn2113=) c.6393T>C (p.Asn2131=) n.6998T>C c.6402T>C (p.Asn2134=) c.6213+1405T>C (n.6213+1405T>C) | |
17 | g.18145997T>G | CA398606822 | MYO15A | c.6399T>G (p.Asn2133Lys) c.6339T>G (p.Asn2113Lys) c.6393T>G (p.Asn2131Lys) n.6998T>G c.6402T>G (p.Asn2134Lys) c.6213+1405T>G (n.6213+1405T>G) | |
17 | g.18145998C>A | CA398606824 | MYO15A | c.6400C>A (p.Gln2134Lys) c.6340C>A (p.Gln2114Lys) c.6394C>A (p.Gln2132Lys) n.6999C>A c.6403C>A (p.Gln2135Lys) c.6213+1406C>A (n.6213+1406C>A) | |
17 | g.18145998C>G | CA398606826 | MYO15A | c.6400C>G (p.Gln2134Glu) c.6340C>G (p.Gln2114Glu) c.6394C>G (p.Gln2132Glu) n.6999C>G c.6403C>G (p.Gln2135Glu) c.6213+1406C>G (n.6213+1406C>G) | |
17 | g.18145998C>T | CA398606827 | MYO15A | c.6400C>T (p.Gln2134Ter) c.6340C>T (p.Gln2114Ter) c.6394C>T (p.Gln2132Ter) n.6999C>T c.6403C>T (p.Gln2135Ter) c.6213+1406C>T (n.6213+1406C>T) | |
17 | g.18146011_18146012insACAGGTGTGGCACAA | CA2636448366 | MYO15A | c.6413_6414insACAGGTGTGGCACAA (p.His2137_Asn2138insLysGlnValTrpHis) c.6353_6354insACAGGTGTGGCACAA (p.His2117_Asn2118insLysGlnValTrpHis) c.6342+11_6342+12insACAGGTGTGGCACAA c.6407_6408insACAGGTGTGGCACAA (p.His2135_Asn2136insLysGlnValTrpHis) n.7012_7013insACAGGTGTGGCACAA c.6416_6417insACAGGTGTGGCACAA (p.His2138_Asn2139insLysGlnValTrpHis) c.6213+1419_6213+1420insACAGGTGTGGCACAA (n.6213+1419_6213+1420insACAGGTGTGGCACAA) | gnomAD v4 |
17 | g.18145999A>C | CA398606830 | MYO15A | c.6401A>C (p.Gln2134Pro) c.6341A>C (p.Gln2114Pro) c.6395A>C (p.Gln2132Pro) n.7000A>C c.6404A>C (p.Gln2135Pro) c.6213+1407A>C (n.6213+1407A>C) | |
17 | g.18145999A>G | CA398606833 | MYO15A | c.6401A>G (p.Gln2134Arg) c.6341A>G (p.Gln2114Arg) c.6395A>G (p.Gln2132Arg) n.7000A>G c.6404A>G (p.Gln2135Arg) c.6213+1407A>G (n.6213+1407A>G) | |
17 | g.18145999A>T | CA398606831 | MYO15A | c.6401A>T (p.Gln2134Leu) c.6341A>T (p.Gln2114Leu) c.6395A>T (p.Gln2132Leu) n.7000A>T c.6404A>T (p.Gln2135Leu) c.6213+1407A>T (n.6213+1407A>T) | |
17 | g.18146000G>A | CA498430501 | MYO15A | c.6402G>A (p.Gln2134=) c.6342G>A (p.Gln2114=) c.6396G>A (p.Gln2132=) n.7001G>A c.6405G>A (p.Gln2135=) c.6213+1408G>A (n.6213+1408G>A) | gnomAD v4 |
17 | g.18146000G>C | CA398606835 | MYO15A | c.6402G>C (p.Gln2134His) c.6342G>C (p.Gln2114His) c.6396G>C (p.Gln2132His) n.7001G>C c.6405G>C (p.Gln2135His) c.6213+1408G>C (n.6213+1408G>C) | |
17 | g.18146000G>T | CA398606837 | MYO15A | c.6402G>T (p.Gln2134His) c.6342G>T (p.Gln2114His) c.6396G>T (p.Gln2132His) n.7001G>T c.6405G>T (p.Gln2135His) c.6213+1408G>T (n.6213+1408G>T) | |
17 | g.18146001G>A | CA398606839 | MYO15A | c.6403G>A (p.Val2135Met) c.6343G>A (p.Val2115Met) c.6342+1G>A (n.6342+1G>A) c.6397G>A (p.Val2133Met) n.7002G>A c.6406G>A (p.Val2136Met) c.6213+1409G>A (n.6213+1409G>A) | gnomAD v4 |
17 | g.18146001G>C | CA8424586 | MYO15A | c.6403G>C (p.Val2135Leu) c.6343G>C (p.Val2115Leu) c.6342+1G>C (n.6342+1G>C) c.6397G>C (p.Val2133Leu) n.7002G>C c.6406G>C (p.Val2136Leu) c.6213+1409G>C (n.6213+1409G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146001G= | CA2250850346 | MYO15A | c.6403G= (p.Val2135=) c.6343G= (p.Val2115=) c.6342+1G= (n.6342+1G=) c.6397G= (p.Val2133=) n.7002G= c.6406G= (p.Val2136=) c.6213+1409G= (n.6213+1409G=) | |
17 | g.18146001G>T | CA249421 | MYO15A | c.6403G>T (p.Val2135Leu) c.6343G>T (p.Val2115Leu) c.6342+1G>T (n.6342+1G>T) c.6397G>T (p.Val2133Leu) n.7002G>T c.6406G>T (p.Val2136Leu) c.6213+1409G>T (n.6213+1409G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146002T>A | CA398606844 | MYO15A | c.6404T>A (p.Val2135Glu) c.6344T>A (p.Val2115Glu) c.6342+2T>A (n.6342+2T>A) c.6398T>A (p.Val2133Glu) n.7003T>A c.6407T>A (p.Val2136Glu) c.6213+1410T>A (n.6213+1410T>A) | |
17 | g.18146002T>C | CA398606846 | MYO15A | c.6404T>C (p.Val2135Ala) c.6344T>C (p.Val2115Ala) c.6342+2T>C (n.6342+2T>C) c.6398T>C (p.Val2133Ala) n.7003T>C c.6407T>C (p.Val2136Ala) c.6213+1410T>C (n.6213+1410T>C) | |
17 | g.18146002T>G | CA398606848 | MYO15A | c.6404T>G (p.Val2135Gly) c.6344T>G (p.Val2115Gly) c.6342+2T>G (n.6342+2T>G) c.6398T>G (p.Val2133Gly) n.7003T>G c.6407T>G (p.Val2136Gly) c.6213+1410T>G (n.6213+1410T>G) | dbSNP |
17 | g.18146002T= | CA2250850347 | MYO15A | c.6404T= (p.Val2135=) c.6344T= (p.Val2115=) c.6342+2T= (n.6342+2T=) c.6398T= (p.Val2133=) n.7003T= c.6407T= (p.Val2136=) c.6213+1410T= (n.6213+1410T=) | |
17 | g.18146003G>A | CA498430502 | MYO15A | c.6405G>A (p.Val2135=) c.6345G>A (p.Val2115=) c.6342+3G>A (n.6342+3G>A) c.6399G>A (p.Val2133=) n.7004G>A c.6408G>A (p.Val2136=) c.6213+1411G>A (n.6213+1411G>A) | gnomAD v4 |
17 | g.18146003G>C | CA498430503 | MYO15A | c.6405G>C (p.Val2135=) c.6345G>C (p.Val2115=) c.6342+3G>C (n.6342+3G>C) c.6399G>C (p.Val2133=) n.7004G>C c.6408G>C (p.Val2136=) c.6213+1411G>C (n.6213+1411G>C) | |
17 | g.18146003G>T | CA498430504 | MYO15A | c.6405G>T (p.Val2135=) c.6345G>T (p.Val2115=) c.6342+3G>T (n.6342+3G>T) c.6399G>T (p.Val2133=) n.7004G>T c.6408G>T (p.Val2136=) c.6213+1411G>T (n.6213+1411G>T) | |
17 | g.18146004T>A | CA398606850 | MYO15A | c.6406T>A (p.Trp2136Arg) c.6346T>A (p.Trp2116Arg) c.6342+4T>A (n.6342+4T>A) c.6400T>A (p.Trp2134Arg) n.7005T>A c.6409T>A (p.Trp2137Arg) c.6213+1412T>A (n.6213+1412T>A) | |
17 | g.18146004T>C | CA398606852 | MYO15A | c.6406T>C (p.Trp2136Arg) c.6346T>C (p.Trp2116Arg) c.6342+4T>C (n.6342+4T>C) c.6400T>C (p.Trp2134Arg) n.7005T>C c.6409T>C (p.Trp2137Arg) c.6213+1412T>C (n.6213+1412T>C) | |
17 | g.18146004T>G | CA398606853 | MYO15A | c.6406T>G (p.Trp2136Gly) c.6346T>G (p.Trp2116Gly) c.6342+4T>G (n.6342+4T>G) c.6400T>G (p.Trp2134Gly) n.7005T>G c.6409T>G (p.Trp2137Gly) c.6213+1412T>G (n.6213+1412T>G) | dbSNP |
17 | g.18146004T= | CA2250850348 | MYO15A | c.6406T= (p.Trp2136=) c.6346T= (p.Trp2116=) c.6342+4T= (n.6342+4T=) c.6400T= (p.Trp2134=) n.7005T= c.6409T= (p.Trp2137=) c.6213+1412T= (n.6213+1412T=) | |
17 | g.18146005G>A | CA398606856 | MYO15A | c.6407G>A (p.Trp2136Ter) c.6347G>A (p.Trp2116Ter) c.6342+5G>A (n.6342+5G>A) c.6401G>A (p.Trp2134Ter) n.7006G>A c.6410G>A (p.Trp2137Ter) c.6213+1413G>A (n.6213+1413G>A) | |
17 | g.18146005G>C | CA398606858 | MYO15A | c.6407G>C (p.Trp2136Ser) c.6347G>C (p.Trp2116Ser) c.6342+5G>C (n.6342+5G>C) c.6401G>C (p.Trp2134Ser) n.7006G>C c.6410G>C (p.Trp2137Ser) c.6213+1413G>C (n.6213+1413G>C) | |
17 | g.18146005G>T | CA398606855 | MYO15A | c.6407G>T (p.Trp2136Leu) c.6347G>T (p.Trp2116Leu) c.6342+5G>T (n.6342+5G>T) c.6401G>T (p.Trp2134Leu) n.7006G>T c.6410G>T (p.Trp2137Leu) c.6213+1413G>T (n.6213+1413G>T) | |
17 | g.18146006G>A | CA398606862 | MYO15A | c.6408G>A (p.Trp2136Ter) c.6348G>A (p.Trp2116Ter) c.6342+6G>A (n.6342+6G>A) c.6402G>A (p.Trp2134Ter) n.7007G>A c.6411G>A (p.Trp2137Ter) c.6213+1414G>A (n.6213+1414G>A) | COSMIC |
17 | g.18146006G>C | CA398606860 | MYO15A | c.6408G>C (p.Trp2136Cys) c.6348G>C (p.Trp2116Cys) c.6342+6G>C (n.6342+6G>C) c.6402G>C (p.Trp2134Cys) n.7007G>C c.6411G>C (p.Trp2137Cys) c.6213+1414G>C (n.6213+1414G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18146006G= | CA2250850349 | MYO15A | c.6408G= (p.Trp2136=) c.6348G= (p.Trp2116=) c.6342+6G= (n.6342+6G=) c.6402G= (p.Trp2134=) n.7007G= c.6411G= (p.Trp2137=) c.6213+1414G= (n.6213+1414G=) | |
17 | g.18146006G>T | CA398606864 | MYO15A | c.6408G>T (p.Trp2136Cys) c.6348G>T (p.Trp2116Cys) c.6342+6G>T (n.6342+6G>T) c.6402G>T (p.Trp2134Cys) n.7007G>T c.6411G>T (p.Trp2137Cys) c.6213+1414G>T (n.6213+1414G>T) | |
17 | g.18146007C>A | CA398606865 | MYO15A | c.6409C>A (p.His2137Asn) c.6349C>A (p.His2117Asn) c.6342+7C>A (n.6342+7C>A) c.6403C>A (p.His2135Asn) n.7008C>A c.6412C>A (p.His2138Asn) c.6213+1415C>A (n.6213+1415C>A) | |
17 | g.18146007C>G | CA398606867 | MYO15A | c.6409C>G (p.His2137Asp) c.6349C>G (p.His2117Asp) c.6342+7C>G (n.6342+7C>G) c.6403C>G (p.His2135Asp) n.7008C>G c.6412C>G (p.His2138Asp) c.6213+1415C>G (n.6213+1415C>G) | |
17 | g.18146007C>T | CA398606870 | MYO15A | c.6409C>T (p.His2137Tyr) c.6349C>T (p.His2117Tyr) c.6342+7C>T (n.6342+7C>T) c.6403C>T (p.His2135Tyr) n.7008C>T c.6412C>T (p.His2138Tyr) c.6213+1415C>T (n.6213+1415C>T) | |
17 | g.18146008A>C | CA398606874 | MYO15A | c.6410A>C (p.His2137Pro) c.6350A>C (p.His2117Pro) c.6342+8A>C (n.6342+8A>C) c.6404A>C (p.His2135Pro) n.7009A>C c.6413A>C (p.His2138Pro) c.6213+1416A>C (n.6213+1416A>C) | |
17 | g.18146008A>G | CA398606877 | MYO15A | c.6410A>G (p.His2137Arg) c.6350A>G (p.His2117Arg) c.6342+8A>G (n.6342+8A>G) c.6404A>G (p.His2135Arg) n.7009A>G c.6413A>G (p.His2138Arg) c.6213+1416A>G (n.6213+1416A>G) | |
17 | g.18146008A>T | CA398606879 | MYO15A | c.6410A>T (p.His2137Leu) c.6350A>T (p.His2117Leu) c.6342+8A>T (n.6342+8A>T) c.6404A>T (p.His2135Leu) n.7009A>T c.6413A>T (p.His2138Leu) c.6213+1416A>T (n.6213+1416A>T) | |
17 | g.18146009C>A | CA398606881 | MYO15A | c.6411C>A (p.His2137Gln) c.6351C>A (p.His2117Gln) c.6342+9C>A (n.6342+9C>A) c.6405C>A (p.His2135Gln) n.7010C>A c.6414C>A (p.His2138Gln) c.6213+1417C>A (n.6213+1417C>A) | gnomAD v4 |
17 | g.18146009C>G | CA398606884 | MYO15A | c.6411C>G (p.His2137Gln) c.6351C>G (p.His2117Gln) c.6342+9C>G (n.6342+9C>G) c.6405C>G (p.His2135Gln) n.7010C>G c.6414C>G (p.His2138Gln) c.6213+1417C>G (n.6213+1417C>G) | |
17 | g.18146009C>T | CA498430505 | MYO15A | c.6411C>T (p.His2137=) c.6351C>T (p.His2117=) c.6342+9C>T (n.6342+9C>T) c.6405C>T (p.His2135=) n.7010C>T c.6414C>T (p.His2138=) c.6213+1417C>T (n.6213+1417C>T) | |
17 | g.18146010A= | CA2250850350 | MYO15A | c.6412A= (p.Asn2138=) c.6352A= (p.Asn2118=) c.6342+10A= (n.6342+10A=) c.6406A= (p.Asn2136=) n.7011A= c.6415A= (p.Asn2139=) c.6213+1418A= (n.6213+1418A=) | |
17 | g.18146010A>C | CA398606887 | MYO15A | c.6412A>C (p.Asn2138His) c.6352A>C (p.Asn2118His) c.6342+10A>C (n.6342+10A>C) c.6406A>C (p.Asn2136His) n.7011A>C c.6415A>C (p.Asn2139His) c.6213+1418A>C (n.6213+1418A>C) | |
17 | g.18146010A>G | CA398606889 | MYO15A | c.6412A>G (p.Asn2138Asp) c.6352A>G (p.Asn2118Asp) c.6342+10A>G (n.6342+10A>G) c.6406A>G (p.Asn2136Asp) n.7011A>G c.6415A>G (p.Asn2139Asp) c.6213+1418A>G (n.6213+1418A>G) | dbSNP |
17 | g.18146010A>T | CA398606893 | MYO15A | c.6412A>T (p.Asn2138Tyr) c.6352A>T (p.Asn2118Tyr) c.6342+10A>T (n.6342+10A>T) c.6406A>T (p.Asn2136Tyr) n.7011A>T c.6415A>T (p.Asn2139Tyr) c.6213+1418A>T (n.6213+1418A>T) | |
17 | g.18146011A= | CA2250850351 | MYO15A | c.6413A= (p.Asn2138=) c.6353A= (p.Asn2118=) c.6342+11A= (n.6342+11A=) c.6407A= (p.Asn2136=) n.7012A= c.6416A= (p.Asn2139=) c.6213+1419A= (n.6213+1419A=) | |
17 | g.18146011A>C | CA398606899 | MYO15A | c.6413A>C (p.Asn2138Thr) c.6353A>C (p.Asn2118Thr) c.6342+11A>C (n.6342+11A>C) c.6407A>C (p.Asn2136Thr) n.7012A>C c.6416A>C (p.Asn2139Thr) c.6213+1419A>C (n.6213+1419A>C) | |
17 | g.18146011A>G | CA288407471 | MYO15A | c.6413A>G (p.Asn2138Ser) c.6353A>G (p.Asn2118Ser) c.6342+11A>G (n.6342+11A>G) c.6407A>G (p.Asn2136Ser) n.7012A>G c.6416A>G (p.Asn2139Ser) c.6213+1419A>G (n.6213+1419A>G) | dbSNP gnomAD v4 |
17 | g.18146011A>T | CA398606895 | MYO15A | c.6413A>T (p.Asn2138Ile) c.6353A>T (p.Asn2118Ile) c.6342+11A>T (n.6342+11A>T) c.6407A>T (p.Asn2136Ile) n.7012A>T c.6416A>T (p.Asn2139Ile) c.6213+1419A>T (n.6213+1419A>T) | |
17 | g.18146012T>A | CA398606902 | MYO15A | c.6414T>A (p.Asn2138Lys) c.6354T>A (p.Asn2118Lys) c.6342+12T>A (n.6342+12T>A) c.6408T>A (p.Asn2136Lys) n.7013T>A c.6417T>A (p.Asn2139Lys) c.6213+1420T>A (n.6213+1420T>A) | |
17 | g.18146012T>C | CA498430506 | MYO15A | c.6414T>C (p.Asn2138=) c.6354T>C (p.Asn2118=) c.6342+12T>C (n.6342+12T>C) c.6408T>C (p.Asn2136=) n.7013T>C c.6417T>C (p.Asn2139=) c.6213+1420T>C (n.6213+1420T>C) | |
17 | g.18146012T>G | CA398606906 | MYO15A | c.6414T>G (p.Asn2138Lys) c.6354T>G (p.Asn2118Lys) c.6342+12T>G (n.6342+12T>G) c.6408T>G (p.Asn2136Lys) n.7013T>G c.6417T>G (p.Asn2139Lys) c.6213+1420T>G (n.6213+1420T>G) | |
17 | g.18146013C>A | CA398606910 | MYO15A | c.6415C>A (p.His2139Asn) c.6355C>A (p.His2119Asn) c.6342+13C>A (n.6342+13C>A) c.6409C>A (p.His2137Asn) n.7014C>A c.6418C>A (p.His2140Asn) c.6213+1421C>A (n.6213+1421C>A) | |
17 | g.18146013C>G | CA398606912 | MYO15A | c.6415C>G (p.His2139Asp) c.6355C>G (p.His2119Asp) c.6342+13C>G (n.6342+13C>G) c.6409C>G (p.His2137Asp) n.7014C>G c.6418C>G (p.His2140Asp) c.6213+1421C>G (n.6213+1421C>G) | |
17 | g.18146013C>T | CA398606917 | MYO15A | c.6415C>T (p.His2139Tyr) c.6355C>T (p.His2119Tyr) c.6342+13C>T (n.6342+13C>T) c.6409C>T (p.His2137Tyr) n.7014C>T c.6418C>T (p.His2140Tyr) c.6213+1421C>T (n.6213+1421C>T) | |
17 | g.18146014A>C | CA398606921 | MYO15A | c.6416A>C (p.His2139Pro) n.1A>C c.6356A>C (p.His2119Pro) c.6342+14A>C (n.6342+14A>C) c.6410A>C (p.His2137Pro) n.7015A>C c.6419A>C (p.His2140Pro) c.6213+1422A>C (n.6213+1422A>C) | |
17 | g.18146014A>G | CA398606924 | MYO15A | c.6416A>G (p.His2139Arg) n.1A>G c.6356A>G (p.His2119Arg) c.6342+14A>G (n.6342+14A>G) c.6410A>G (p.His2137Arg) n.7015A>G c.6419A>G (p.His2140Arg) c.6213+1422A>G (n.6213+1422A>G) | |
17 | g.18146014A>T | CA398606925 | MYO15A | c.6416A>T (p.His2139Leu) n.1A>T c.6356A>T (p.His2119Leu) c.6342+14A>T (n.6342+14A>T) c.6410A>T (p.His2137Leu) n.7015A>T c.6419A>T (p.His2140Leu) c.6213+1422A>T (n.6213+1422A>T) | |
17 | g.18146015C>A | CA398606929 | MYO15A | c.6417C>A (p.His2139Gln) n.2C>A c.6357C>A (p.His2119Gln) c.6342+15C>A (n.6342+15C>A) c.6411C>A (p.His2137Gln) n.7016C>A c.6420C>A (p.His2140Gln) c.6213+1423C>A (n.6213+1423C>A) | COSMIC |
17 | g.18146015C>G | CA398606933 | MYO15A | c.6417C>G (p.His2139Gln) n.2C>G c.6357C>G (p.His2119Gln) c.6342+15C>G (n.6342+15C>G) c.6411C>G (p.His2137Gln) n.7016C>G c.6420C>G (p.His2140Gln) c.6213+1423C>G (n.6213+1423C>G) | |
17 | g.18146015C>T | CA498430507 | MYO15A | c.6417C>T (p.His2139=) n.2C>T c.6357C>T (p.His2119=) c.6342+15C>T (n.6342+15C>T) c.6411C>T (p.His2137=) n.7016C>T c.6420C>T (p.His2140=) c.6213+1423C>T (n.6213+1423C>T) | |
17 | g.18146016A>C | CA398606935 | MYO15A | c.6418A>C (p.Asn2140His) n.3A>C c.6358A>C (p.Asn2120His) c.6342+16A>C (n.6342+16A>C) c.6412A>C (p.Asn2138His) n.7017A>C c.6421A>C (p.Asn2141His) c.6213+1424A>C (n.6213+1424A>C) | |
17 | g.18146016A>G | CA398606940 | MYO15A | c.6418A>G (p.Asn2140Asp) n.3A>G c.6358A>G (p.Asn2120Asp) c.6342+16A>G (n.6342+16A>G) c.6412A>G (p.Asn2138Asp) n.7017A>G c.6421A>G (p.Asn2141Asp) c.6213+1424A>G (n.6213+1424A>G) | |
17 | g.18146016A>T | CA398606943 | MYO15A | c.6418A>T (p.Asn2140Tyr) n.3A>T c.6358A>T (p.Asn2120Tyr) c.6342+16A>T (n.6342+16A>T) c.6412A>T (p.Asn2138Tyr) n.7017A>T c.6421A>T (p.Asn2141Tyr) c.6213+1424A>T (n.6213+1424A>T) | |
17 | g.18146017A>C | CA398606954 | MYO15A | c.6419A>C (p.Asn2140Thr) n.4A>C c.6359A>C (p.Asn2120Thr) c.6342+17A>C (n.6342+17A>C) c.6413A>C (p.Asn2138Thr) n.7018A>C c.6422A>C (p.Asn2141Thr) c.6213+1425A>C (n.6213+1425A>C) | |
17 | g.18146017A>G | CA398606952 | MYO15A | c.6419A>G (p.Asn2140Ser) n.4A>G c.6359A>G (p.Asn2120Ser) c.6342+17A>G (n.6342+17A>G) c.6413A>G (p.Asn2138Ser) n.7018A>G c.6422A>G (p.Asn2141Ser) c.6213+1425A>G (n.6213+1425A>G) | |
17 | g.18146017A>T | CA398606948 | MYO15A | c.6419A>T (p.Asn2140Ile) n.4A>T c.6359A>T (p.Asn2120Ile) c.6342+17A>T (n.6342+17A>T) c.6413A>T (p.Asn2138Ile) n.7018A>T c.6422A>T (p.Asn2141Ile) c.6213+1425A>T (n.6213+1425A>T) | |
17 | g.18146018T>A | CA398606961 | MYO15A | c.6420T>A (p.Asn2140Lys) n.5T>A c.6360T>A (p.Asn2120Lys) c.6342+18T>A (n.6342+18T>A) c.6414T>A (p.Asn2138Lys) n.7019T>A c.6423T>A (p.Asn2141Lys) c.6213+1426T>A (n.6213+1426T>A) | dbSNP gnomAD v4 |
17 | g.18146018T>C | CA498430508 | MYO15A | c.6420T>C (p.Asn2140=) n.5T>C c.6360T>C (p.Asn2120=) c.6342+18T>C (n.6342+18T>C) c.6414T>C (p.Asn2138=) n.7019T>C c.6423T>C (p.Asn2141=) c.6213+1426T>C (n.6213+1426T>C) | |
17 | g.18146018T>G | CA398606958 | MYO15A | c.6420T>G (p.Asn2140Lys) n.5T>G c.6360T>G (p.Asn2120Lys) c.6342+18T>G (n.6342+18T>G) c.6414T>G (p.Asn2138Lys) n.7019T>G c.6423T>G (p.Asn2141Lys) c.6213+1426T>G (n.6213+1426T>G) | |
17 | g.18146018T= | CA2250850352 | MYO15A | c.6420T= (p.Asn2140=) n.5T= c.6360T= (p.Asn2120=) c.6342+18T= (n.6342+18T=) c.6414T= (p.Asn2138=) n.7019T= c.6423T= (p.Asn2141=) c.6213+1426T= (n.6213+1426T=) | |
17 | g.18146019G>A | CA398606963 | MYO15A | c.6421G>A (p.Ala2141Thr) n.6G>A c.6361G>A (p.Ala2121Thr) c.6342+19G>A (n.6342+19G>A) c.6415G>A (p.Ala2139Thr) n.7020G>A c.6424G>A (p.Ala2142Thr) c.6213+1427G>A (n.6213+1427G>A) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18146019G>C | CA398606966 | MYO15A | c.6421G>C (p.Ala2141Pro) n.6G>C c.6361G>C (p.Ala2121Pro) c.6342+19G>C (n.6342+19G>C) c.6415G>C (p.Ala2139Pro) n.7020G>C c.6424G>C (p.Ala2142Pro) c.6213+1427G>C (n.6213+1427G>C) | |
17 | g.18146019G= | CA2250850353 | MYO15A | c.6421G= (p.Ala2141=) n.6G= c.6361G= (p.Ala2121=) c.6342+19G= (n.6342+19G=) c.6415G= (p.Ala2139=) n.7020G= c.6424G= (p.Ala2142=) c.6213+1427G= (n.6213+1427G=) | |
17 | g.18146019G>T | CA398606969 | MYO15A | c.6421G>T (p.Ala2141Ser) n.6G>T c.6361G>T (p.Ala2121Ser) c.6342+19G>T (n.6342+19G>T) c.6415G>T (p.Ala2139Ser) n.7020G>T c.6424G>T (p.Ala2142Ser) c.6213+1427G>T (n.6213+1427G>T) | |
17 | g.18146019_18146021delinsCACAAT | CA645597342 | MYO15A | c.6421_6423delinsCACAAT (p.Ala2141delinsHisAsn) n.6_8delinsCACAAT c.6361_6363delinsCACAAT (p.Ala2121delinsHisAsn) c.6342+19_6342+21delinsCACAAT (n.6342+19_6342+21delinsCACAAT) c.6415_6417delinsCACAAT (p.Ala2139delinsHisAsn) n.7020_7022delinsCACAAT c.6424_6426delinsCACAAT (p.Ala2142delinsHisAsn) c.6213+1427_6213+1429delinsCACAAT (n.6213+1427_6213+1429delinsCACAAT) | COSMIC |
17 | g.18146020C>A | CA398606973 | MYO15A | c.6422C>A (p.Ala2141Asp) n.7C>A c.6362C>A (p.Ala2121Asp) c.6342+20C>A (n.6342+20C>A) c.6416C>A (p.Ala2139Asp) n.7021C>A c.6425C>A (p.Ala2142Asp) c.6213+1428C>A (n.6213+1428C>A) | |
17 | g.18146020C= | CA2250850354 | MYO15A | c.6422C= (p.Ala2141=) n.7C= c.6362C= (p.Ala2121=) c.6342+20C= (n.6342+20C=) c.6416C= (p.Ala2139=) n.7021C= c.6425C= (p.Ala2142=) c.6213+1428C= (n.6213+1428C=) | |
17 | g.18146020C>G | CA398606976 | MYO15A | c.6422C>G (p.Ala2141Gly) n.7C>G c.6362C>G (p.Ala2121Gly) c.6342+20C>G (n.6342+20C>G) c.6416C>G (p.Ala2139Gly) n.7021C>G c.6425C>G (p.Ala2142Gly) c.6213+1428C>G (n.6213+1428C>G) | gnomAD v4 |
17 | g.18146020C>T | CA398606980 | MYO15A | c.6422C>T (p.Ala2141Val) n.7C>T c.6362C>T (p.Ala2121Val) c.6342+20C>T (n.6342+20C>T) c.6416C>T (p.Ala2139Val) n.7021C>T c.6425C>T (p.Ala2142Val) c.6213+1428C>T (n.6213+1428C>T) | dbSNP |
17 | g.18146021C>A | CA498430509 | MYO15A | c.6423C>A (p.Ala2141=) n.8C>A c.6363C>A (p.Ala2121=) c.6342+21C>A (n.6342+21C>A) c.6417C>A (p.Ala2139=) n.7022C>A c.6426C>A (p.Ala2142=) c.6213+1429C>A (n.6213+1429C>A) | |
17 | g.18146021C>G | CA498430510 | MYO15A | c.6423C>G (p.Ala2141=) n.8C>G c.6363C>G (p.Ala2121=) c.6342+21C>G (n.6342+21C>G) c.6417C>G (p.Ala2139=) n.7022C>G c.6426C>G (p.Ala2142=) c.6213+1429C>G (n.6213+1429C>G) | |
17 | g.18146021C>T | CA498430511 | MYO15A | c.6423C>T (p.Ala2141=) n.8C>T c.6363C>T (p.Ala2121=) c.6342+21C>T (n.6342+21C>T) c.6417C>T (p.Ala2139=) n.7022C>T c.6426C>T (p.Ala2142=) c.6213+1429C>T (n.6213+1429C>T) | |
17 | g.18146022C>A | CA398606984 | MYO15A | c.6424C>A (p.His2142Asn) n.9C>A c.6364C>A (p.His2122Asn) c.6342+22C>A (n.6342+22C>A) c.6418C>A (p.His2140Asn) n.7023C>A c.6427C>A (p.His2143Asn) c.6213+1430C>A (n.6213+1430C>A) | |
17 | g.18146022C>G | CA398606987 | MYO15A | c.6424C>G (p.His2142Asp) n.9C>G c.6364C>G (p.His2122Asp) c.6342+22C>G (n.6342+22C>G) c.6418C>G (p.His2140Asp) n.7023C>G c.6427C>G (p.His2143Asp) c.6213+1430C>G (n.6213+1430C>G) | |
17 | g.18146022C>T | CA398606989 | MYO15A | c.6424C>T (p.His2142Tyr) n.9C>T c.6364C>T (p.His2122Tyr) c.6342+22C>T (n.6342+22C>T) c.6418C>T (p.His2140Tyr) n.7023C>T c.6427C>T (p.His2143Tyr) c.6213+1430C>T (n.6213+1430C>T) | |
17 | g.18146023A>C | CA398606992 | MYO15A | c.6425A>C (p.His2142Pro) n.10A>C c.6365A>C (p.His2122Pro) c.6342+23A>C (n.6342+23A>C) c.6419A>C (p.His2140Pro) n.7024A>C c.6428A>C (p.His2143Pro) c.6213+1431A>C (n.6213+1431A>C) | |
17 | g.18146023A>G | CA398606995 | MYO15A | c.6425A>G (p.His2142Arg) n.10A>G c.6365A>G (p.His2122Arg) c.6342+23A>G (n.6342+23A>G) c.6419A>G (p.His2140Arg) n.7024A>G c.6428A>G (p.His2143Arg) c.6213+1431A>G (n.6213+1431A>G) | |
17 | g.18146023A>T | CA398606998 | MYO15A | c.6425A>T (p.His2142Leu) n.10A>T c.6365A>T (p.His2122Leu) c.6342+23A>T (n.6342+23A>T) c.6419A>T (p.His2140Leu) n.7024A>T c.6428A>T (p.His2143Leu) c.6213+1431A>T (n.6213+1431A>T) | |
17 | g.18146024C>A | CA398607005 | MYO15A | c.6426C>A (p.His2142Gln) n.11C>A c.6366C>A (p.His2122Gln) c.6342+24C>A (n.6342+24C>A) c.6420C>A (p.His2140Gln) n.7025C>A c.6429C>A (p.His2143Gln) c.6213+1432C>A (n.6213+1432C>A) | |
17 | g.18146024C>G | CA398607002 | MYO15A | c.6426C>G (p.His2142Gln) n.11C>G c.6366C>G (p.His2122Gln) c.6342+24C>G (n.6342+24C>G) c.6420C>G (p.His2140Gln) n.7025C>G c.6429C>G (p.His2143Gln) c.6213+1432C>G (n.6213+1432C>G) | |
17 | g.18146024C>T | CA498430512 | MYO15A | c.6426C>T (p.His2142=) n.11C>T c.6366C>T (p.His2122=) c.6342+24C>T (n.6342+24C>T) c.6420C>T (p.His2140=) n.7025C>T c.6429C>T (p.His2143=) c.6213+1432C>T (n.6213+1432C>T) | |
17 | g.18146025A>C | CA398607007 | MYO15A | c.6427A>C (p.Asn2143His) n.12A>C c.6367A>C (p.Asn2123His) c.6342+25A>C (n.6342+25A>C) c.6421A>C (p.Asn2141His) n.7026A>C c.6430A>C (p.Asn2144His) c.6213+1433A>C (n.6213+1433A>C) | |
17 | g.18146025A>G | CA398607010 | MYO15A | c.6427A>G (p.Asn2143Asp) n.12A>G c.6367A>G (p.Asn2123Asp) c.6342+25A>G (n.6342+25A>G) c.6421A>G (p.Asn2141Asp) n.7026A>G c.6430A>G (p.Asn2144Asp) c.6213+1433A>G (n.6213+1433A>G) | gnomAD v4 |
17 | g.18146025A>T | CA398607012 | MYO15A | c.6427A>T (p.Asn2143Tyr) n.12A>T c.6367A>T (p.Asn2123Tyr) c.6342+25A>T (n.6342+25A>T) c.6421A>T (p.Asn2141Tyr) n.7026A>T c.6430A>T (p.Asn2144Tyr) c.6213+1433A>T (n.6213+1433A>T) | |
17 | g.18146026A= | CA2250850355 | MYO15A | c.6428A= (p.Asn2143=) n.13A= c.6368A= (p.Asn2123=) c.6342+26A= (n.6342+26A=) c.6422A= (p.Asn2141=) n.7027A= c.6431A= (p.Asn2144=) c.6213+1434A= (n.6213+1434A=) | |
17 | g.18146026A>C | CA398607017 | MYO15A | c.6428A>C (p.Asn2143Thr) n.13A>C c.6368A>C (p.Asn2123Thr) c.6342+26A>C (n.6342+26A>C) c.6422A>C (p.Asn2141Thr) n.7027A>C c.6431A>C (p.Asn2144Thr) c.6213+1434A>C (n.6213+1434A>C) | |
17 | g.18146026A>G | CA398607020 | MYO15A | c.6428A>G (p.Asn2143Ser) n.13A>G c.6368A>G (p.Asn2123Ser) c.6342+26A>G (n.6342+26A>G) c.6422A>G (p.Asn2141Ser) n.7027A>G c.6431A>G (p.Asn2144Ser) c.6213+1434A>G (n.6213+1434A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146026A>T | CA398607023 | MYO15A | c.6428A>T (p.Asn2143Ile) n.13A>T c.6368A>T (p.Asn2123Ile) c.6342+26A>T (n.6342+26A>T) c.6422A>T (p.Asn2141Ile) n.7027A>T c.6431A>T (p.Asn2144Ile) c.6213+1434A>T (n.6213+1434A>T) | |
17 | g.18146027T>A | CA398607026 | MYO15A | c.6429T>A (p.Asn2143Lys) n.14T>A c.6369T>A (p.Asn2123Lys) c.6342+27T>A (n.6342+27T>A) c.6423T>A (p.Asn2141Lys) n.7028T>A c.6432T>A (p.Asn2144Lys) c.6213+1435T>A (n.6213+1435T>A) | |
17 | g.18146027T>C | CA498430513 | MYO15A | c.6429T>C (p.Asn2143=) n.14T>C c.6369T>C (p.Asn2123=) c.6342+27T>C (n.6342+27T>C) c.6423T>C (p.Asn2141=) n.7028T>C c.6432T>C (p.Asn2144=) c.6213+1435T>C (n.6213+1435T>C) | |
17 | g.18146027T>G | CA398607028 | MYO15A | c.6429T>G (p.Asn2143Lys) n.14T>G c.6369T>G (p.Asn2123Lys) c.6342+27T>G (n.6342+27T>G) c.6423T>G (p.Asn2141Lys) n.7028T>G c.6432T>G (p.Asn2144Lys) c.6213+1435T>G (n.6213+1435T>G) | |
17 | g.18146028G>A | CA398607030 | MYO15A | c.6430G>A (p.Ala2144Thr) n.15G>A c.6370G>A (p.Ala2124Thr) c.6342+28G>A (n.6342+28G>A) c.6424G>A (p.Ala2142Thr) n.7029G>A c.6433G>A (p.Ala2145Thr) c.6213+1436G>A (n.6213+1436G>A) | COSMIC |
17 | g.18146028G>C | CA398607034 | MYO15A | c.6430G>C (p.Ala2144Pro) n.15G>C c.6370G>C (p.Ala2124Pro) c.6342+28G>C (n.6342+28G>C) c.6424G>C (p.Ala2142Pro) n.7029G>C c.6433G>C (p.Ala2145Pro) c.6213+1436G>C (n.6213+1436G>C) | |
17 | g.18146028G>T | CA398607037 | MYO15A | c.6430G>T (p.Ala2144Ser) n.15G>T c.6370G>T (p.Ala2124Ser) c.6342+28G>T (n.6342+28G>T) c.6424G>T (p.Ala2142Ser) n.7029G>T c.6433G>T (p.Ala2145Ser) c.6213+1436G>T (n.6213+1436G>T) | |
17 | g.18146029C>A | CA398607040 | MYO15A | c.6431C>A (p.Ala2144Asp) n.16C>A c.6371C>A (p.Ala2124Asp) c.6342+29C>A (n.6342+29C>A) c.6425C>A (p.Ala2142Asp) n.7030C>A c.6434C>A (p.Ala2145Asp) c.6213+1437C>A (n.6213+1437C>A) | |
17 | g.18146029C>G | CA398607044 | MYO15A | c.6431C>G (p.Ala2144Gly) n.16C>G c.6371C>G (p.Ala2124Gly) c.6342+29C>G (n.6342+29C>G) c.6425C>G (p.Ala2142Gly) n.7030C>G c.6434C>G (p.Ala2145Gly) c.6213+1437C>G (n.6213+1437C>G) | |
17 | g.18146029C>T | CA398607046 | MYO15A | c.6431C>T (p.Ala2144Val) n.16C>T c.6371C>T (p.Ala2124Val) c.6342+29C>T (n.6342+29C>T) c.6425C>T (p.Ala2142Val) n.7030C>T c.6434C>T (p.Ala2145Val) c.6213+1437C>T (n.6213+1437C>T) | |
17 | g.18146030T>A | CA498430514 | MYO15A | c.6432T>A (p.Ala2144=) n.17T>A c.6372T>A (p.Ala2124=) c.6342+30T>A (n.6342+30T>A) c.6426T>A (p.Ala2142=) n.7031T>A c.6435T>A (p.Ala2145=) c.6213+1438T>A (n.6213+1438T>A) | |
17 | g.18146030T>C | CA498430515 | MYO15A | c.6432T>C (p.Ala2144=) n.17T>C c.6372T>C (p.Ala2124=) c.6342+30T>C (n.6342+30T>C) c.6426T>C (p.Ala2142=) n.7031T>C c.6435T>C (p.Ala2145=) c.6213+1438T>C (n.6213+1438T>C) | |
17 | g.18146030T>G | CA498430516 | MYO15A | c.6432T>G (p.Ala2144=) n.17T>G c.6372T>G (p.Ala2124=) c.6342+30T>G (n.6342+30T>G) c.6426T>G (p.Ala2142=) n.7031T>G c.6435T>G (p.Ala2145=) c.6213+1438T>G (n.6213+1438T>G) | |
17 | g.18146031G>A | CA398607053 | MYO15A | c.6433G>A (p.Glu2145Lys) n.18G>A c.6373G>A (p.Glu2125Lys) c.6342+31G>A (n.6342+31G>A) c.6427G>A (p.Glu2143Lys) n.7032G>A c.6436G>A (p.Glu2146Lys) c.6213+1439G>A (n.6213+1439G>A) | dbSNP gnomAD v4 |
17 | g.18146031G>C | CA398607056 | MYO15A | c.6433G>C (p.Glu2145Gln) n.18G>C c.6373G>C (p.Glu2125Gln) c.6342+31G>C (n.6342+31G>C) c.6427G>C (p.Glu2143Gln) n.7032G>C c.6436G>C (p.Glu2146Gln) c.6213+1439G>C (n.6213+1439G>C) | |
17 | g.18146031G= | CA2250850356 | MYO15A | c.6433G= (p.Glu2145=) n.18G= c.6373G= (p.Glu2125=) c.6342+31G= (n.6342+31G=) c.6427G= (p.Glu2143=) n.7032G= c.6436G= (p.Glu2146=) c.6213+1439G= (n.6213+1439G=) | |
17 | g.18146031G>T | CA398607052 | MYO15A | c.6433G>T (p.Glu2145Ter) n.18G>T c.6373G>T (p.Glu2125Ter) c.6342+31G>T (n.6342+31G>T) c.6427G>T (p.Glu2143Ter) n.7032G>T c.6436G>T (p.Glu2146Ter) c.6213+1439G>T (n.6213+1439G>T) | |
17 | g.18146032A>C | CA398607058 | MYO15A | c.6434A>C (p.Glu2145Ala) n.19A>C c.6374A>C (p.Glu2125Ala) c.6342+32A>C (n.6342+32A>C) c.6428A>C (p.Glu2143Ala) n.7033A>C c.6437A>C (p.Glu2146Ala) c.6213+1440A>C (n.6213+1440A>C) | |
17 | g.18146032A>G | CA398607064 | MYO15A | c.6434A>G (p.Glu2145Gly) n.19A>G c.6374A>G (p.Glu2125Gly) c.6342+32A>G (n.6342+32A>G) c.6428A>G (p.Glu2143Gly) n.7033A>G c.6437A>G (p.Glu2146Gly) c.6213+1440A>G (n.6213+1440A>G) | |
17 | g.18146032A>T | CA398607061 | MYO15A | c.6434A>T (p.Glu2145Val) n.19A>T c.6374A>T (p.Glu2125Val) c.6342+32A>T (n.6342+32A>T) c.6428A>T (p.Glu2143Val) n.7033A>T c.6437A>T (p.Glu2146Val) c.6213+1440A>T (n.6213+1440A>T) | |
17 | g.18146033G>A | CA498430517 | MYO15A | c.6435G>A (p.Glu2145=) n.20G>A c.6375G>A (p.Glu2125=) c.6342+33G>A (n.6342+33G>A) c.6429G>A (p.Glu2143=) n.7034G>A c.6438G>A (p.Glu2146=) c.6213+1441G>A (n.6213+1441G>A) | COSMIC |
17 | g.18146033G>C | CA398607066 | MYO15A | c.6435G>C (p.Glu2145Asp) n.20G>C c.6375G>C (p.Glu2125Asp) c.6342+33G>C (n.6342+33G>C) c.6429G>C (p.Glu2143Asp) n.7034G>C c.6438G>C (p.Glu2146Asp) c.6213+1441G>C (n.6213+1441G>C) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18146033G= | CA2250850357 | MYO15A | c.6435G= (p.Glu2145=) n.20G= c.6375G= (p.Glu2125=) c.6342+33G= (n.6342+33G=) c.6429G= (p.Glu2143=) n.7034G= c.6438G= (p.Glu2146=) c.6213+1441G= (n.6213+1441G=) | |
17 | g.18146033G>T | CA398607070 | MYO15A | c.6435G>T (p.Glu2145Asp) n.20G>T c.6375G>T (p.Glu2125Asp) c.6342+33G>T (n.6342+33G>T) c.6429G>T (p.Glu2143Asp) n.7034G>T c.6438G>T (p.Glu2146Asp) c.6213+1441G>T (n.6213+1441G>T) | |
17 | g.18146034C>A | CA288407485 | MYO15A | c.6436C>A (p.Arg2146=) n.21C>A c.6376C>A (p.Arg2126=) c.6342+34C>A (n.6342+34C>A) c.6430C>A (p.Arg2144=) n.7035C>A c.6439C>A (p.Arg2147=) c.6213+1442C>A (n.6213+1442C>A) | dbSNP |
17 | g.18146034C= | CA2250850358 | MYO15A | c.6436C= (p.Arg2146=) n.21C= c.6376C= (p.Arg2126=) c.6342+34C= (n.6342+34C=) c.6430C= (p.Arg2144=) n.7035C= c.6439C= (p.Arg2147=) c.6213+1442C= (n.6213+1442C=) | |
17 | g.18146034C>G | CA398607073 | MYO15A | c.6436C>G (p.Arg2146Gly) n.21C>G c.6376C>G (p.Arg2126Gly) c.6342+34C>G (n.6342+34C>G) c.6430C>G (p.Arg2144Gly) n.7035C>G c.6439C>G (p.Arg2147Gly) c.6213+1442C>G (n.6213+1442C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.18146034C>T | CA8424587 | MYO15A | c.6436C>T (p.Arg2146Trp) n.21C>T c.6376C>T (p.Arg2126Trp) c.6342+34C>T (n.6342+34C>T) c.6430C>T (p.Arg2144Trp) n.7035C>T c.6439C>T (p.Arg2147Trp) c.6213+1442C>T (n.6213+1442C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146035G>A | CA8424588 | MYO15A | c.6437G>A (p.Arg2146Gln) n.22G>A c.6377G>A (p.Arg2126Gln) c.6342+35G>A (n.6342+35G>A) c.6431G>A (p.Arg2144Gln) n.7036G>A c.6440G>A (p.Arg2147Gln) c.6213+1443G>A (n.6213+1443G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18146035G>C | CA398607080 | MYO15A | c.6437G>C (p.Arg2146Pro) n.22G>C c.6377G>C (p.Arg2126Pro) c.6342+35G>C (n.6342+35G>C) c.6431G>C (p.Arg2144Pro) n.7036G>C c.6440G>C (p.Arg2147Pro) c.6213+1443G>C (n.6213+1443G>C) | |
17 | g.18146035G= | CA2250850359 | MYO15A | c.6437G= (p.Arg2146=) n.22G= c.6377G= (p.Arg2126=) c.6342+35G= (n.6342+35G=) c.6431G= (p.Arg2144=) n.7036G= c.6440G= (p.Arg2147=) c.6213+1443G= (n.6213+1443G=) | |
17 | g.18146035G>T | CA398607082 | MYO15A | c.6437G>T (p.Arg2146Leu) n.22G>T c.6377G>T (p.Arg2126Leu) c.6342+35G>T (n.6342+35G>T) c.6431G>T (p.Arg2144Leu) n.7036G>T c.6440G>T (p.Arg2147Leu) c.6213+1443G>T (n.6213+1443G>T) | |
17 | g.18146038dup | CA658798728 | MYO15A | c.6440dup (p.Trp2148LeufsTer27) n.25dup c.6380dup (p.Trp2128LeufsTer27) c.6342+38dup (n.6342+38dup) c.6434dup (p.Trp2146LeufsTer27) n.7039dup c.6443dup (p.Trp2149LeufsTer27) c.6213+1446dup (n.6213+1446dup) | ClinVar dbSNP |
17 | g.18146036G>A | CA498430518 | MYO15A | c.6438G>A (p.Arg2146=) n.23G>A c.6378G>A (p.Arg2126=) c.6342+36G>A (n.6342+36G>A) c.6432G>A (p.Arg2144=) n.7037G>A c.6441G>A (p.Arg2147=) c.6213+1444G>A (n.6213+1444G>A) | |
17 | g.18146036G>C | CA498430520 | MYO15A | c.6438G>C (p.Arg2146=) n.23G>C c.6378G>C (p.Arg2126=) c.6342+36G>C (n.6342+36G>C) c.6432G>C (p.Arg2144=) n.7037G>C c.6441G>C (p.Arg2147=) c.6213+1444G>C (n.6213+1444G>C) | |
17 | g.18146036G>T | CA498430519 | MYO15A | c.6438G>T (p.Arg2146=) n.23G>T c.6378G>T (p.Arg2126=) c.6342+36G>T (n.6342+36G>T) c.6432G>T (p.Arg2144=) n.7037G>T c.6441G>T (p.Arg2147=) c.6213+1444G>T (n.6213+1444G>T) | |
17 | g.18146037G>A | CA398607086 | MYO15A | c.6439G>A (p.Gly2147Ser) n.24G>A c.6379G>A (p.Gly2127Ser) c.6342+37G>A (n.6342+37G>A) c.6433G>A (p.Gly2145Ser) n.7038G>A c.6442G>A (p.Gly2148Ser) c.6213+1445G>A (n.6213+1445G>A) | |
17 | g.18146037G>C | CA398607088 | MYO15A | c.6439G>C (p.Gly2147Arg) n.24G>C c.6379G>C (p.Gly2127Arg) c.6342+37G>C (n.6342+37G>C) c.6433G>C (p.Gly2145Arg) n.7038G>C c.6442G>C (p.Gly2148Arg) c.6213+1445G>C (n.6213+1445G>C) | |
17 | g.18146037G>T | CA398607089 | MYO15A | c.6439G>T (p.Gly2147Cys) n.24G>T c.6379G>T (p.Gly2127Cys) c.6342+37G>T (n.6342+37G>T) c.6433G>T (p.Gly2145Cys) n.7038G>T c.6442G>T (p.Gly2148Cys) c.6213+1445G>T (n.6213+1445G>T) | |
17 | g.18146038G>A | CA398607096 | MYO15A | c.6440G>A (p.Gly2147Asp) n.25G>A c.6380G>A (p.Gly2127Asp) c.6342+38G>A (n.6342+38G>A) c.6434G>A (p.Gly2145Asp) n.7039G>A c.6443G>A (p.Gly2148Asp) c.6213+1446G>A (n.6213+1446G>A) | |
17 | g.18146038G>C | CA398607094 | MYO15A | c.6440G>C (p.Gly2147Ala) n.25G>C c.6380G>C (p.Gly2127Ala) c.6342+38G>C (n.6342+38G>C) c.6434G>C (p.Gly2145Ala) n.7039G>C c.6443G>C (p.Gly2148Ala) c.6213+1446G>C (n.6213+1446G>C) | |
17 | g.18146038G>T | CA398607092 | MYO15A | c.6440G>T (p.Gly2147Val) n.25G>T c.6380G>T (p.Gly2127Val) c.6342+38G>T (n.6342+38G>T) c.6434G>T (p.Gly2145Val) n.7039G>T c.6443G>T (p.Gly2148Val) c.6213+1446G>T (n.6213+1446G>T) | |
17 | g.18146039C>A | CA498430521 | MYO15A | c.6441C>A (p.Gly2147=) n.26C>A c.6381C>A (p.Gly2127=) c.6342+39C>A (n.6342+39C>A) c.6435C>A (p.Gly2145=) n.7040C>A c.6444C>A (p.Gly2148=) c.6213+1447C>A (n.6213+1447C>A) | |
17 | g.18146039C>G | CA498430522 | MYO15A | c.6441C>G (p.Gly2147=) n.26C>G c.6381C>G (p.Gly2127=) c.6342+39C>G (n.6342+39C>G) c.6435C>G (p.Gly2145=) n.7040C>G c.6444C>G (p.Gly2148=) c.6213+1447C>G (n.6213+1447C>G) | |
17 | g.18146039C>T | CA498430523 | MYO15A | c.6441C>T (p.Gly2147=) n.26C>T c.6381C>T (p.Gly2127=) c.6342+39C>T (n.6342+39C>T) c.6435C>T (p.Gly2145=) n.7040C>T c.6444C>T (p.Gly2148=) c.6213+1447C>T (n.6213+1447C>T) | |
17 | g.18146040T>A | CA398607099 | MYO15A | c.6442T>A (p.Trp2148Arg) n.27T>A c.6382T>A (p.Trp2128Arg) c.6342+40T>A (n.6342+40T>A) c.6436T>A (p.Trp2146Arg) n.7041T>A c.6445T>A (p.Trp2149Arg) c.6213+1448T>A (n.6213+1448T>A) | ClinVar dbSNP gnomAD v4 |
17 | g.18146040T>C | CA398607100 | MYO15A | c.6442T>C (p.Trp2148Arg) n.27T>C c.6382T>C (p.Trp2128Arg) c.6342+40T>C (n.6342+40T>C) c.6436T>C (p.Trp2146Arg) n.7041T>C c.6445T>C (p.Trp2149Arg) c.6213+1448T>C (n.6213+1448T>C) | |
17 | g.18146040T>G | CA398607103 | MYO15A | c.6442T>G (p.Trp2148Gly) n.27T>G c.6382T>G (p.Trp2128Gly) c.6342+40T>G (n.6342+40T>G) c.6436T>G (p.Trp2146Gly) n.7041T>G c.6445T>G (p.Trp2149Gly) c.6213+1448T>G (n.6213+1448T>G) | |
17 | g.18146041G>A | CA398607105 | MYO15A | c.6443G>A (p.Trp2148Ter) n.28G>A c.6383G>A (p.Trp2128Ter) c.6342+41G>A (n.6342+41G>A) c.6437G>A (p.Trp2146Ter) n.7042G>A c.6446G>A (p.Trp2149Ter) c.6213+1449G>A (n.6213+1449G>A) | |
17 | g.18146041G>C | CA398607108 | MYO15A | c.6443G>C (p.Trp2148Ser) n.28G>C c.6383G>C (p.Trp2128Ser) c.6342+41G>C (n.6342+41G>C) c.6437G>C (p.Trp2146Ser) n.7042G>C c.6446G>C (p.Trp2149Ser) c.6213+1449G>C (n.6213+1449G>C) | |
17 | g.18146041G>T | CA398607116 | MYO15A | c.6443G>T (p.Trp2148Leu) n.28G>T c.6383G>T (p.Trp2128Leu) c.6342+41G>T (n.6342+41G>T) c.6437G>T (p.Trp2146Leu) n.7042G>T c.6446G>T (p.Trp2149Leu) c.6213+1449G>T (n.6213+1449G>T) | |
17 | g.18146042G>A | CA398607119 | MYO15A | c.6444G>A (p.Trp2148Ter) n.29G>A c.6384G>A (p.Trp2128Ter) c.6342+42G>A (n.6342+42G>A) c.6438G>A (p.Trp2146Ter) n.7043G>A c.6447G>A (p.Trp2149Ter) c.6213+1450G>A (n.6213+1450G>A) | |
17 | g.18146042G>C | CA398607121 | MYO15A | c.6444G>C (p.Trp2148Cys) n.29G>C c.6384G>C (p.Trp2128Cys) c.6342+42G>C (n.6342+42G>C) c.6438G>C (p.Trp2146Cys) n.7043G>C c.6447G>C (p.Trp2149Cys) c.6213+1450G>C (n.6213+1450G>C) | |
17 | g.18146042G>T | CA398607124 | MYO15A | c.6444G>T (p.Trp2148Cys) n.29G>T c.6384G>T (p.Trp2128Cys) c.6342+42G>T (n.6342+42G>T) c.6438G>T (p.Trp2146Cys) n.7043G>T c.6447G>T (p.Trp2149Cys) c.6213+1450G>T (n.6213+1450G>T) | |
17 | g.18146043C>A | CA398607128 | MYO15A | c.6445C>A (p.Leu2149Met) n.30C>A c.6385C>A (p.Leu2129Met) c.6342+43C>A (n.6342+43C>A) c.6439C>A (p.Leu2147Met) n.7044C>A c.6448C>A (p.Leu2150Met) c.6213+1451C>A (n.6213+1451C>A) | COSMIC |
17 | g.18146043C>G | CA398607130 | MYO15A | c.6445C>G (p.Leu2149Val) n.30C>G c.6385C>G (p.Leu2129Val) c.6342+43C>G (n.6342+43C>G) c.6439C>G (p.Leu2147Val) n.7044C>G c.6448C>G (p.Leu2150Val) c.6213+1451C>G (n.6213+1451C>G) | |
17 | g.18146043C>T | CA498430524 | MYO15A | c.6445C>T (p.Leu2149=) n.30C>T c.6385C>T (p.Leu2129=) c.6342+43C>T (n.6342+43C>T) c.6439C>T (p.Leu2147=) n.7044C>T c.6448C>T (p.Leu2150=) c.6213+1451C>T (n.6213+1451C>T) | |
17 | g.18146044T>A | CA398607135 | MYO15A | c.6446T>A (p.Leu2149Gln) n.31T>A c.6386T>A (p.Leu2129Gln) c.6342+44T>A (n.6342+44T>A) c.6440T>A (p.Leu2147Gln) n.7045T>A c.6449T>A (p.Leu2150Gln) c.6213+1452T>A (n.6213+1452T>A) | |
17 | g.18146044T>C | CA398607137 | MYO15A | c.6446T>C (p.Leu2149Pro) n.31T>C c.6386T>C (p.Leu2129Pro) c.6342+44T>C (n.6342+44T>C) c.6440T>C (p.Leu2147Pro) n.7045T>C c.6449T>C (p.Leu2150Pro) c.6213+1452T>C (n.6213+1452T>C) | |
17 | g.18146044T>G | CA398607133 | MYO15A | c.6446T>G (p.Leu2149Arg) n.31T>G c.6386T>G (p.Leu2129Arg) c.6342+44T>G (n.6342+44T>G) c.6440T>G (p.Leu2147Arg) n.7045T>G c.6449T>G (p.Leu2150Arg) c.6213+1452T>G (n.6213+1452T>G) | gnomAD v4 |
17 | g.18146045G>A | CA498430525 | MYO15A | c.6447G>A (p.Leu2149=) n.32G>A c.6387G>A (p.Leu2129=) c.6342+45G>A (n.6342+45G>A) c.6441G>A (p.Leu2147=) n.7046G>A c.6450G>A (p.Leu2150=) c.6213+1453G>A (n.6213+1453G>A) | |
17 | g.18146045G>C | CA498430526 | MYO15A | c.6447G>C (p.Leu2149=) n.32G>C c.6387G>C (p.Leu2129=) c.6342+45G>C (n.6342+45G>C) c.6441G>C (p.Leu2147=) n.7046G>C c.6450G>C (p.Leu2150=) c.6213+1453G>C (n.6213+1453G>C) | |
17 | g.18146045G>T | CA498430527 | MYO15A | c.6447G>T (p.Leu2149=) n.32G>T c.6387G>T (p.Leu2129=) c.6342+45G>T (n.6342+45G>T) c.6441G>T (p.Leu2147=) n.7046G>T c.6450G>T (p.Leu2150=) c.6213+1453G>T (n.6213+1453G>T) | |
17 | g.18146046C>A | CA398607139 | MYO15A | c.6448C>A (p.Leu2150Met) n.33C>A c.6388C>A (p.Leu2130Met) c.6342+46C>A (n.6342+46C>A) c.6442C>A (p.Leu2148Met) n.7047C>A c.6451C>A (p.Leu2151Met) c.6213+1454C>A (n.6213+1454C>A) | |
17 | g.18146046C>G | CA398607141 | MYO15A | c.6448C>G (p.Leu2150Val) n.33C>G c.6388C>G (p.Leu2130Val) c.6342+46C>G (n.6342+46C>G) c.6442C>G (p.Leu2148Val) n.7047C>G c.6451C>G (p.Leu2151Val) c.6213+1454C>G (n.6213+1454C>G) | |
17 | g.18146046C>T | CA498430528 | MYO15A | c.6448C>T (p.Leu2150=) n.33C>T c.6388C>T (p.Leu2130=) c.6342+46C>T (n.6342+46C>T) c.6442C>T (p.Leu2148=) n.7047C>T c.6451C>T (p.Leu2151=) c.6213+1454C>T (n.6213+1454C>T) | |
17 | g.18146047T>A | CA398607144 | MYO15A | c.6449T>A (p.Leu2150Gln) n.34T>A c.6389T>A (p.Leu2130Gln) c.6342+47T>A (n.6342+47T>A) c.6443T>A (p.Leu2148Gln) n.7048T>A c.6452T>A (p.Leu2151Gln) c.6213+1455T>A (n.6213+1455T>A) | ClinVar |
17 | g.18146047T>C | CA398607146 | MYO15A | c.6449T>C (p.Leu2150Pro) n.34T>C c.6389T>C (p.Leu2130Pro) c.6342+47T>C (n.6342+47T>C) c.6443T>C (p.Leu2148Pro) n.7048T>C c.6452T>C (p.Leu2151Pro) c.6213+1455T>C (n.6213+1455T>C) | dbSNP |
17 | g.18146047T>G | CA398607149 | MYO15A | c.6449T>G (p.Leu2150Arg) n.34T>G c.6389T>G (p.Leu2130Arg) c.6342+47T>G (n.6342+47T>G) c.6443T>G (p.Leu2148Arg) n.7048T>G c.6452T>G (p.Leu2151Arg) c.6213+1455T>G (n.6213+1455T>G) | |
17 | g.18146047T= | CA2250850360 | MYO15A | c.6449T= (p.Leu2150=) n.34T= c.6389T= (p.Leu2130=) c.6342+47T= (n.6342+47T=) c.6443T= (p.Leu2148=) n.7048T= c.6452T= (p.Leu2151=) c.6213+1455T= (n.6213+1455T=) | |
17 | g.18146048G>A | CA498430529 | MYO15A | c.6450G>A (p.Leu2150=) n.35G>A c.6390G>A (p.Leu2130=) c.6342+48G>A (n.6342+48G>A) c.6444G>A (p.Leu2148=) n.7049G>A c.6453G>A (p.Leu2151=) c.6213+1456G>A (n.6213+1456G>A) | |
17 | g.18146048G>C | CA498430532 | MYO15A | c.6450G>C (p.Leu2150=) n.35G>C c.6390G>C (p.Leu2130=) c.6342+48G>C (n.6342+48G>C) c.6444G>C (p.Leu2148=) n.7049G>C c.6453G>C (p.Leu2151=) c.6213+1456G>C (n.6213+1456G>C) | |
17 | g.18146048G>T | CA498430530 | MYO15A | c.6450G>T (p.Leu2150=) n.35G>T c.6390G>T (p.Leu2130=) c.6342+48G>T (n.6342+48G>T) c.6444G>T (p.Leu2148=) n.7049G>T c.6453G>T (p.Leu2151=) c.6213+1456G>T (n.6213+1456G>T) | |
17 | g.18146049C>A | CA398607150 | MYO15A | c.6451C>A (p.Leu2151Met) n.36C>A c.6391C>A (p.Leu2131Met) c.6342+49C>A (n.6342+49C>A) c.6445C>A (p.Leu2149Met) n.7050C>A c.6454C>A (p.Leu2152Met) c.6213+1457C>A (n.6213+1457C>A) | gnomAD v4 |
17 | g.18146049C>G | CA398607151 | MYO15A | c.6451C>G (p.Leu2151Val) n.36C>G c.6391C>G (p.Leu2131Val) c.6342+49C>G (n.6342+49C>G) c.6445C>G (p.Leu2149Val) n.7050C>G c.6454C>G (p.Leu2152Val) c.6213+1457C>G (n.6213+1457C>G) | |
17 | g.18146049C>T | CA498430534 | MYO15A | c.6451C>T (p.Leu2151=) n.36C>T c.6391C>T (p.Leu2131=) c.6342+49C>T (n.6342+49C>T) c.6445C>T (p.Leu2149=) n.7050C>T c.6454C>T (p.Leu2152=) c.6213+1457C>T (n.6213+1457C>T) | gnomAD v4 |
17 | g.18146050T>A | CA398607153 | MYO15A | c.6452T>A (p.Leu2151Gln) n.37T>A c.6392T>A (p.Leu2131Gln) c.6342+50T>A (n.6342+50T>A) c.6446T>A (p.Leu2149Gln) n.7051T>A c.6455T>A (p.Leu2152Gln) c.6213+1458T>A (n.6213+1458T>A) | |
17 | g.18146050T>C | CA398607154 | MYO15A | c.6452T>C (p.Leu2151Pro) n.37T>C c.6392T>C (p.Leu2131Pro) c.6342+50T>C (n.6342+50T>C) c.6446T>C (p.Leu2149Pro) n.7051T>C c.6455T>C (p.Leu2152Pro) c.6213+1458T>C (n.6213+1458T>C) | gnomAD v4 |
17 | g.18146050T>G | CA398607155 | MYO15A | c.6452T>G (p.Leu2151Arg) n.37T>G c.6392T>G (p.Leu2131Arg) c.6342+50T>G (n.6342+50T>G) c.6446T>G (p.Leu2149Arg) n.7051T>G c.6455T>G (p.Leu2152Arg) c.6213+1458T>G (n.6213+1458T>G) | |
17 | g.18146051G>A | CA498430535 | MYO15A | c.6453G>A (p.Leu2151=) n.38G>A c.6393G>A (p.Leu2131=) c.6342+51G>A (n.6342+51G>A) c.6447G>A (p.Leu2149=) n.7052G>A c.6456G>A (p.Leu2152=) c.6213+1459G>A (n.6213+1459G>A) | |
17 | g.18146051G>C | CA498430536 | MYO15A | c.6453G>C (p.Leu2151=) n.38G>C c.6393G>C (p.Leu2131=) c.6342+51G>C (n.6342+51G>C) c.6447G>C (p.Leu2149=) n.7052G>C c.6456G>C (p.Leu2152=) c.6213+1459G>C (n.6213+1459G>C) | |
17 | g.18146051G>T | CA498430537 | MYO15A | c.6453G>T (p.Leu2151=) n.38G>T c.6393G>T (p.Leu2131=) c.6342+51G>T (n.6342+51G>T) c.6447G>T (p.Leu2149=) n.7052G>T c.6456G>T (p.Leu2152=) c.6213+1459G>T (n.6213+1459G>T) | |
17 | g.18146052G>A | CA8424589 | MYO15A | c.6454G>A (p.Ala2152Thr) n.39G>A c.6394G>A (p.Ala2132Thr) c.6342+52G>A (n.6342+52G>A) c.6448G>A (p.Ala2150Thr) n.7053G>A c.6457G>A (p.Ala2153Thr) c.6213+1460G>A (n.6213+1460G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146052G>C | CA398607159 | MYO15A | c.6454G>C (p.Ala2152Pro) n.39G>C c.6394G>C (p.Ala2132Pro) c.6342+52G>C (n.6342+52G>C) c.6448G>C (p.Ala2150Pro) n.7053G>C c.6457G>C (p.Ala2153Pro) c.6213+1460G>C (n.6213+1460G>C) | |
17 | g.18146052G= | CA2250850361 | MYO15A | c.6454G= (p.Ala2152=) n.39G= c.6394G= (p.Ala2132=) c.6342+52G= (n.6342+52G=) c.6448G= (p.Ala2150=) n.7053G= c.6457G= (p.Ala2153=) c.6213+1460G= (n.6213+1460G=) | |
17 | g.18146052G>T | CA398607163 | MYO15A | c.6454G>T (p.Ala2152Ser) n.39G>T c.6394G>T (p.Ala2132Ser) c.6342+52G>T (n.6342+52G>T) c.6448G>T (p.Ala2150Ser) n.7053G>T c.6457G>T (p.Ala2153Ser) c.6213+1460G>T (n.6213+1460G>T) | |
17 | g.18146053C>A | CA398607170 | MYO15A | c.6455C>A (p.Ala2152Asp) n.40C>A c.6395C>A (p.Ala2132Asp) c.6342+53C>A (n.6342+53C>A) c.6449C>A (p.Ala2150Asp) n.7054C>A c.6458C>A (p.Ala2153Asp) c.6213+1461C>A (n.6213+1461C>A) | |
17 | g.18146053C>G | CA398607168 | MYO15A | c.6455C>G (p.Ala2152Gly) n.40C>G c.6395C>G (p.Ala2132Gly) c.6342+53C>G (n.6342+53C>G) c.6449C>G (p.Ala2150Gly) n.7054C>G c.6458C>G (p.Ala2153Gly) c.6213+1461C>G (n.6213+1461C>G) | |
17 | g.18146053C>T | CA398607166 | MYO15A | c.6455C>T (p.Ala2152Val) n.40C>T c.6395C>T (p.Ala2132Val) c.6342+53C>T (n.6342+53C>T) c.6449C>T (p.Ala2150Val) n.7054C>T c.6458C>T (p.Ala2153Val) c.6213+1461C>T (n.6213+1461C>T) | |
17 | g.18146054C>A | CA498430538 | MYO15A | c.6456C>A (p.Ala2152=) n.41C>A c.6396C>A (p.Ala2132=) c.6342+54C>A (n.6342+54C>A) c.6450C>A (p.Ala2150=) n.7055C>A c.6459C>A (p.Ala2153=) c.6213+1462C>A (n.6213+1462C>A) | gnomAD v4 |
17 | g.18146054C= | CA2250850362 | MYO15A | c.6456C= (p.Ala2152=) n.41C= c.6396C= (p.Ala2132=) c.6342+54C= (n.6342+54C=) c.6450C= (p.Ala2150=) n.7055C= c.6459C= (p.Ala2153=) c.6213+1462C= (n.6213+1462C=) | |
17 | g.18146054C>G | CA498430539 | MYO15A | c.6456C>G (p.Ala2152=) n.41C>G c.6396C>G (p.Ala2132=) c.6342+54C>G (n.6342+54C>G) c.6450C>G (p.Ala2150=) n.7055C>G c.6459C>G (p.Ala2153=) c.6213+1462C>G (n.6213+1462C>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.18146054C>T | CA8424590 | MYO15A | c.6456C>T (p.Ala2152=) n.41C>T c.6396C>T (p.Ala2132=) c.6342+54C>T (n.6342+54C>T) c.6450C>T (p.Ala2150=) n.7055C>T c.6459C>T (p.Ala2153=) c.6213+1462C>T (n.6213+1462C>T) | ClinVar dbSNP ExAC gnomAD v4 |
17 | g.18146054_18146055delinsCG | CA2250850363 | MYO15A | c.6456_6457delinsCG (p.Ala2152=) n.41_42delinsCG c.6396_6397delinsCG (p.Ala2132=) c.6342+54_6342+55delinsCG (n.6342+54_6342+55delinsCG) c.6450_6451delinsCG (p.Ala2150=) n.7055_7056delinsCG c.6459_6460delinsCG (p.Ala2153=) c.6213+1462_6213+1463delinsCG (n.6213+1462_6213+1463delinsCG) | |
17 | g.18146055del | CA2250850364 | MYO15A | c.6457del (p.Ala2153ProfsTer?) n.42del c.6397del (p.Ala2133ProfsTer?) c.6342+55del (n.6342+55del) c.6451del (p.Ala2151ProfsTer?) n.7056del c.6460del (p.Ala2154ProfsTer?) c.6213+1463del (n.6213+1463del) | dbSNP gnomAD v4 |
17 | g.18146055G>A | CA8424591 | MYO15A | c.6457G>A (p.Ala2153Thr) n.42G>A c.6397G>A (p.Ala2133Thr) c.6342+55G>A (n.6342+55G>A) c.6451G>A (p.Ala2151Thr) n.7056G>A c.6460G>A (p.Ala2154Thr) c.6213+1463G>A (n.6213+1463G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146055G>C | CA398607177 | MYO15A | c.6457G>C (p.Ala2153Pro) n.42G>C c.6397G>C (p.Ala2133Pro) c.6342+55G>C (n.6342+55G>C) c.6451G>C (p.Ala2151Pro) n.7056G>C c.6460G>C (p.Ala2154Pro) c.6213+1463G>C (n.6213+1463G>C) | |
17 | g.18146055G= | CA2250850365 | MYO15A | c.6457G= (p.Ala2153=) n.42G= c.6397G= (p.Ala2133=) c.6342+55G= (n.6342+55G=) c.6451G= (p.Ala2151=) n.7056G= c.6460G= (p.Ala2154=) c.6213+1463G= (n.6213+1463G=) | |
17 | g.18146055G>T | CA398607178 | MYO15A | c.6457G>T (p.Ala2153Ser) n.42G>T c.6397G>T (p.Ala2133Ser) c.6342+55G>T (n.6342+55G>T) c.6451G>T (p.Ala2151Ser) n.7056G>T c.6460G>T (p.Ala2154Ser) c.6213+1463G>T (n.6213+1463G>T) | |
17 | g.18146056C>A | CA398607182 | MYO15A | c.6458C>A (p.Ala2153Asp) n.43C>A c.6398C>A (p.Ala2133Asp) c.6342+56C>A (n.6342+56C>A) c.6452C>A (p.Ala2151Asp) n.7057C>A c.6461C>A (p.Ala2154Asp) c.6213+1464C>A (n.6213+1464C>A) | |
17 | g.18146056C>G | CA398607184 | MYO15A | c.6458C>G (p.Ala2153Gly) n.43C>G c.6398C>G (p.Ala2133Gly) c.6342+56C>G (n.6342+56C>G) c.6452C>G (p.Ala2151Gly) n.7057C>G c.6461C>G (p.Ala2154Gly) c.6213+1464C>G (n.6213+1464C>G) | |
17 | g.18146056C>T | CA398607189 | MYO15A | c.6458C>T (p.Ala2153Val) n.43C>T c.6398C>T (p.Ala2133Val) c.6342+56C>T (n.6342+56C>T) c.6452C>T (p.Ala2151Val) n.7057C>T c.6461C>T (p.Ala2154Val) c.6213+1464C>T (n.6213+1464C>T) | |
17 | g.18146057C>A | CA498430540 | MYO15A | c.6459C>A (p.Ala2153=) n.44C>A c.6399C>A (p.Ala2133=) c.6342+57C>A (n.6342+57C>A) c.6453C>A (p.Ala2151=) n.7058C>A c.6462C>A (p.Ala2154=) c.6213+1465C>A (n.6213+1465C>A) | |
17 | g.18146057C>G | CA498430541 | MYO15A | c.6459C>G (p.Ala2153=) n.44C>G c.6399C>G (p.Ala2133=) c.6342+57C>G (n.6342+57C>G) c.6453C>G (p.Ala2151=) n.7058C>G c.6462C>G (p.Ala2154=) c.6213+1465C>G (n.6213+1465C>G) | |
17 | g.18146057C>T | CA498430542 | MYO15A | c.6459C>T (p.Ala2153=) n.44C>T c.6399C>T (p.Ala2133=) c.6342+57C>T (n.6342+57C>T) c.6453C>T (p.Ala2151=) n.7058C>T c.6462C>T (p.Ala2154=) c.6213+1465C>T (n.6213+1465C>T) | |
17 | g.18146058T>A | CA398607191 | MYO15A | c.6460T>A (p.Cys2154Ser) n.45T>A c.6400T>A (p.Cys2134Ser) c.6342+58T>A (n.6342+58T>A) c.6454T>A (p.Cys2152Ser) n.7059T>A c.6463T>A (p.Cys2155Ser) c.6213+1466T>A (n.6213+1466T>A) | |
17 | g.18146058T>C | CA398607194 | MYO15A | c.6460T>C (p.Cys2154Arg) n.45T>C c.6400T>C (p.Cys2134Arg) c.6342+58T>C (n.6342+58T>C) c.6454T>C (p.Cys2152Arg) n.7059T>C c.6463T>C (p.Cys2155Arg) c.6213+1466T>C (n.6213+1466T>C) | |
17 | g.18146058T>G | CA398607198 | MYO15A | c.6460T>G (p.Cys2154Gly) n.45T>G c.6400T>G (p.Cys2134Gly) c.6342+58T>G (n.6342+58T>G) c.6454T>G (p.Cys2152Gly) n.7059T>G c.6463T>G (p.Cys2155Gly) c.6213+1466T>G (n.6213+1466T>G) | |
17 | g.18146059G>A | CA398607201 | MYO15A | c.6461G>A (p.Cys2154Tyr) n.46G>A c.6401G>A (p.Cys2134Tyr) c.6342+59G>A (n.6342+59G>A) c.6455G>A (p.Cys2152Tyr) n.7060G>A c.6464G>A (p.Cys2155Tyr) c.6213+1467G>A (n.6213+1467G>A) | gnomAD v4 |
17 | g.18146059G>C | CA398607202 | MYO15A | c.6461G>C (p.Cys2154Ser) n.46G>C c.6401G>C (p.Cys2134Ser) c.6342+59G>C (n.6342+59G>C) c.6455G>C (p.Cys2152Ser) n.7060G>C c.6464G>C (p.Cys2155Ser) c.6213+1467G>C (n.6213+1467G>C) | |
17 | g.18146059G>T | CA398607206 | MYO15A | c.6461G>T (p.Cys2154Phe) n.46G>T c.6401G>T (p.Cys2134Phe) c.6342+59G>T (n.6342+59G>T) c.6455G>T (p.Cys2152Phe) n.7060G>T c.6464G>T (p.Cys2155Phe) c.6213+1467G>T (n.6213+1467G>T) | |
17 | g.18146060C>A | CA398607211 | MYO15A | c.6462C>A (p.Cys2154Ter) n.47C>A c.6402C>A (p.Cys2134Ter) c.6342+60C>A (n.6342+60C>A) c.6456C>A (p.Cys2152Ter) n.7061C>A c.6465C>A (p.Cys2155Ter) c.6213+1468C>A (n.6213+1468C>A) | |
17 | g.18146060C>G | CA398607208 | MYO15A | c.6462C>G (p.Cys2154Trp) n.47C>G c.6402C>G (p.Cys2134Trp) c.6342+60C>G (n.6342+60C>G) c.6456C>G (p.Cys2152Trp) n.7061C>G c.6465C>G (p.Cys2155Trp) c.6213+1468C>G (n.6213+1468C>G) | |
17 | g.18146060C>T | CA498430545 | MYO15A | c.6462C>T (p.Cys2154=) n.47C>T c.6402C>T (p.Cys2134=) c.6342+60C>T (n.6342+60C>T) c.6456C>T (p.Cys2152=) n.7061C>T c.6465C>T (p.Cys2155=) c.6213+1468C>T (n.6213+1468C>T) | |
17 | g.18146061C>A | CA398607215 | MYO15A | c.6463C>A (p.Leu2155Ile) n.48C>A c.6403C>A (p.Leu2135Ile) c.6342+61C>A (n.6342+61C>A) c.6457C>A (p.Leu2153Ile) n.7062C>A c.6466C>A (p.Leu2156Ile) c.6213+1469C>A (n.6213+1469C>A) | |
17 | g.18146061C= | CA2250850366 | MYO15A | c.6463C= (p.Leu2155=) n.48C= c.6403C= (p.Leu2135=) c.6342+61C= (n.6342+61C=) c.6457C= (p.Leu2153=) n.7062C= c.6466C= (p.Leu2156=) c.6213+1469C= (n.6213+1469C=) | |
17 | g.18146061C>G | CA398607221 | MYO15A | c.6463C>G (p.Leu2155Val) n.48C>G c.6403C>G (p.Leu2135Val) c.6342+61C>G (n.6342+61C>G) c.6457C>G (p.Leu2153Val) n.7062C>G c.6466C>G (p.Leu2156Val) c.6213+1469C>G (n.6213+1469C>G) | gnomAD v4 |
17 | g.18146061C>T | CA8424592 | MYO15A | c.6463C>T (p.Leu2155Phe) n.48C>T c.6403C>T (p.Leu2135Phe) c.6342+61C>T (n.6342+61C>T) c.6457C>T (p.Leu2153Phe) n.7062C>T c.6466C>T (p.Leu2156Phe) c.6213+1469C>T (n.6213+1469C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146062T>A | CA398607224 | MYO15A | c.6464T>A (p.Leu2155His) n.49T>A c.6404T>A (p.Leu2135His) c.6342+62T>A (n.6342+62T>A) c.6458T>A (p.Leu2153His) n.7063T>A c.6467T>A (p.Leu2156His) c.6213+1470T>A (n.6213+1470T>A) | |
17 | g.18146062T>C | CA398607230 | MYO15A | c.6464T>C (p.Leu2155Pro) n.49T>C c.6404T>C (p.Leu2135Pro) c.6342+62T>C (n.6342+62T>C) c.6458T>C (p.Leu2153Pro) n.7063T>C c.6467T>C (p.Leu2156Pro) c.6213+1470T>C (n.6213+1470T>C) | |
17 | g.18146062T>G | CA398607227 | MYO15A | c.6464T>G (p.Leu2155Arg) n.49T>G c.6404T>G (p.Leu2135Arg) c.6342+62T>G (n.6342+62T>G) c.6458T>G (p.Leu2153Arg) n.7063T>G c.6467T>G (p.Leu2156Arg) c.6213+1470T>G (n.6213+1470T>G) | |
17 | g.18146063C>A | CA498430552 | MYO15A | c.6465C>A (p.Leu2155=) n.50C>A c.6405C>A (p.Leu2135=) c.6342+63C>A (n.6342+63C>A) c.6459C>A (p.Leu2153=) n.7064C>A c.6468C>A (p.Leu2156=) c.6213+1471C>A (n.6213+1471C>A) | COSMIC |
17 | g.18146063C>G | CA498430550 | MYO15A | c.6465C>G (p.Leu2155=) n.50C>G c.6405C>G (p.Leu2135=) c.6342+63C>G (n.6342+63C>G) c.6459C>G (p.Leu2153=) n.7064C>G c.6468C>G (p.Leu2156=) c.6213+1471C>G (n.6213+1471C>G) | |
17 | g.18146063C>T | CA498430551 | MYO15A | c.6465C>T (p.Leu2155=) n.50C>T c.6405C>T (p.Leu2135=) c.6342+63C>T (n.6342+63C>T) c.6459C>T (p.Leu2153=) n.7064C>T c.6468C>T (p.Leu2156=) c.6213+1471C>T (n.6213+1471C>T) | gnomAD v4 |
17 | g.18146064A= | CA2250850367 | MYO15A | c.6466A= (p.Ser2156=) n.51A= c.6406A= (p.Ser2136=) c.6342+64A= (n.6342+64A=) c.6460A= (p.Ser2154=) n.7065A= c.6469A= (p.Ser2157=) c.6213+1472A= (n.6213+1472A=) | |
17 | g.18146064A>C | CA398607233 | MYO15A | c.6466A>C (p.Ser2156Arg) n.51A>C c.6406A>C (p.Ser2136Arg) c.6342+64A>C (n.6342+64A>C) c.6460A>C (p.Ser2154Arg) n.7065A>C c.6469A>C (p.Ser2157Arg) c.6213+1472A>C (n.6213+1472A>C) | gnomAD v4 |
17 | g.18146064A>G | CA288407502 | MYO15A | c.6466A>G (p.Ser2156Gly) n.51A>G c.6406A>G (p.Ser2136Gly) c.6342+64A>G (n.6342+64A>G) c.6460A>G (p.Ser2154Gly) n.7065A>G c.6469A>G (p.Ser2157Gly) c.6213+1472A>G (n.6213+1472A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146064A>T | CA398607238 | MYO15A | c.6466A>T (p.Ser2156Cys) n.51A>T c.6406A>T (p.Ser2136Cys) c.6342+64A>T (n.6342+64A>T) c.6460A>T (p.Ser2154Cys) n.7065A>T c.6469A>T (p.Ser2157Cys) c.6213+1472A>T (n.6213+1472A>T) | |
17 | g.18146065G>A | CA398607242 | MYO15A | c.6467G>A (p.Ser2156Asn) n.52G>A c.6407G>A (p.Ser2136Asn) c.6342+65G>A (n.6342+65G>A) c.6461G>A (p.Ser2154Asn) n.7066G>A c.6470G>A (p.Ser2157Asn) c.6213+1473G>A (n.6213+1473G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146065G>C | CA398607244 | MYO15A | c.6467G>C (p.Ser2156Thr) n.52G>C c.6407G>C (p.Ser2136Thr) c.6342+65G>C (n.6342+65G>C) c.6461G>C (p.Ser2154Thr) n.7066G>C c.6470G>C (p.Ser2157Thr) c.6213+1473G>C (n.6213+1473G>C) | |
17 | g.18146065G= | CA2250850368 | MYO15A | c.6467G= (p.Ser2156=) n.52G= c.6407G= (p.Ser2136=) c.6342+65G= (n.6342+65G=) c.6461G= (p.Ser2154=) n.7066G= c.6470G= (p.Ser2157=) c.6213+1473G= (n.6213+1473G=) | |
17 | g.18146065G>T | CA398607246 | MYO15A | c.6467G>T (p.Ser2156Ile) n.52G>T c.6407G>T (p.Ser2136Ile) c.6342+65G>T (n.6342+65G>T) c.6461G>T (p.Ser2154Ile) n.7066G>T c.6470G>T (p.Ser2157Ile) c.6213+1473G>T (n.6213+1473G>T) | |
17 | g.18146066T>A | CA398607248 | MYO15A | c.6468T>A (p.Ser2156Arg) n.53T>A c.6408T>A (p.Ser2136Arg) c.6342+66T>A (n.6342+66T>A) c.6462T>A (p.Ser2154Arg) n.7067T>A c.6471T>A (p.Ser2157Arg) c.6213+1474T>A (n.6213+1474T>A) | dbSNP gnomAD v2 |
17 | g.18146066T>C | CA498430558 | MYO15A | c.6468T>C (p.Ser2156=) n.53T>C c.6408T>C (p.Ser2136=) c.6342+66T>C (n.6342+66T>C) c.6462T>C (p.Ser2154=) n.7067T>C c.6471T>C (p.Ser2157=) c.6213+1474T>C (n.6213+1474T>C) | |
17 | g.18146066T>G | CA8424593 | MYO15A | c.6468T>G (p.Ser2156Arg) n.53T>G c.6408T>G (p.Ser2136Arg) c.6342+66T>G (n.6342+66T>G) c.6462T>G (p.Ser2154Arg) n.7067T>G c.6471T>G (p.Ser2157Arg) c.6213+1474T>G (n.6213+1474T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18146066T= | CA2250850369 | MYO15A | c.6468T= (p.Ser2156=) n.53T= c.6408T= (p.Ser2136=) c.6342+66T= (n.6342+66T=) c.6462T= (p.Ser2154=) n.7067T= c.6471T= (p.Ser2157=) c.6213+1474T= (n.6213+1474T=) | |
17 | g.18146067G>A | CA398607250 | MYO15A | c.6469G>A (p.Gly2157Ser) n.54G>A c.6409G>A (p.Gly2137Ser) c.6342+67G>A (n.6342+67G>A) c.6463G>A (p.Gly2155Ser) n.7068G>A c.6472G>A (p.Gly2158Ser) c.6213+1475G>A (n.6213+1475G>A) | |
17 | g.18146067G>C | CA398607255 | MYO15A | c.6469G>C (p.Gly2157Arg) n.54G>C c.6409G>C (p.Gly2137Arg) c.6342+67G>C (n.6342+67G>C) c.6463G>C (p.Gly2155Arg) n.7068G>C c.6472G>C (p.Gly2158Arg) c.6213+1475G>C (n.6213+1475G>C) | |
17 | g.18146067G>T | CA398607256 | MYO15A | c.6469G>T (p.Gly2157Cys) n.54G>T c.6409G>T (p.Gly2137Cys) c.6342+67G>T (n.6342+67G>T) c.6463G>T (p.Gly2155Cys) n.7068G>T c.6472G>T (p.Gly2158Cys) c.6213+1475G>T (n.6213+1475G>T) | |
17 | g.18146068G>A | CA398607264 | MYO15A | c.6470G>A (p.Gly2157Asp) n.55G>A c.6410G>A (p.Gly2137Asp) c.6342+68G>A (n.6342+68G>A) c.6464G>A (p.Gly2155Asp) n.7069G>A c.6473G>A (p.Gly2158Asp) c.6213+1476G>A (n.6213+1476G>A) | |
17 | g.18146068G>C | CA398607263 | MYO15A | c.6470G>C (p.Gly2157Ala) n.55G>C c.6410G>C (p.Gly2137Ala) c.6342+68G>C (n.6342+68G>C) c.6464G>C (p.Gly2155Ala) n.7069G>C c.6473G>C (p.Gly2158Ala) c.6213+1476G>C (n.6213+1476G>C) | |
17 | g.18146068G>T | CA398607260 | MYO15A | c.6470G>T (p.Gly2157Val) n.55G>T c.6410G>T (p.Gly2137Val) c.6342+68G>T (n.6342+68G>T) c.6464G>T (p.Gly2155Val) n.7069G>T c.6473G>T (p.Gly2158Val) c.6213+1476G>T (n.6213+1476G>T) | |
17 | g.18146069C>A | CA498430565 | MYO15A | c.6471C>A (p.Gly2157=) n.56C>A c.6411C>A (p.Gly2137=) c.6342+69C>A (n.6342+69C>A) c.6465C>A (p.Gly2155=) n.7070C>A c.6474C>A (p.Gly2158=) c.6213+1477C>A (n.6213+1477C>A) | |
17 | g.18146069C= | CA2250850370 | MYO15A | c.6471C= (p.Gly2157=) n.56C= c.6411C= (p.Gly2137=) c.6342+69C= (n.6342+69C=) c.6465C= (p.Gly2155=) n.7070C= c.6474C= (p.Gly2158=) c.6213+1477C= (n.6213+1477C=) | |
17 | g.18146069C>G | CA498430567 | MYO15A | c.6471C>G (p.Gly2157=) n.56C>G c.6411C>G (p.Gly2137=) c.6342+69C>G (n.6342+69C>G) c.6465C>G (p.Gly2155=) n.7070C>G c.6474C>G (p.Gly2158=) c.6213+1477C>G (n.6213+1477C>G) | ClinVar |
17 | g.18146069C>T | CA498430566 | MYO15A | c.6471C>T (p.Gly2157=) n.56C>T c.6411C>T (p.Gly2137=) c.6342+69C>T (n.6342+69C>T) c.6465C>T (p.Gly2155=) n.7070C>T c.6474C>T (p.Gly2158=) c.6213+1477C>T (n.6213+1477C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146070T>A | CA398607269 | MYO15A | c.6472T>A (p.Phe2158Ile) n.57T>A c.6412T>A (p.Phe2138Ile) c.6342+70T>A (n.6342+70T>A) c.6466T>A (p.Phe2156Ile) n.7071T>A c.6475T>A (p.Phe2159Ile) c.6213+1478T>A (n.6213+1478T>A) | |
17 | g.18146070T>C | CA398607272 | MYO15A | c.6472T>C (p.Phe2158Leu) n.57T>C c.6412T>C (p.Phe2138Leu) c.6342+70T>C (n.6342+70T>C) c.6466T>C (p.Phe2156Leu) n.7071T>C c.6475T>C (p.Phe2159Leu) c.6213+1478T>C (n.6213+1478T>C) | |
17 | g.18146070T>G | CA398607275 | MYO15A | c.6472T>G (p.Phe2158Val) n.57T>G c.6412T>G (p.Phe2138Val) c.6342+70T>G (n.6342+70T>G) c.6466T>G (p.Phe2156Val) n.7071T>G c.6475T>G (p.Phe2159Val) c.6213+1478T>G (n.6213+1478T>G) | |
17 | g.18146071T>A | CA398607278 | MYO15A | c.6473T>A (p.Phe2158Tyr) n.58T>A c.6413T>A (p.Phe2138Tyr) c.6342+71T>A (n.6342+71T>A) c.6467T>A (p.Phe2156Tyr) n.7072T>A c.6476T>A (p.Phe2159Tyr) c.6213+1479T>A (n.6213+1479T>A) | |
17 | g.18146071T>C | CA398607281 | MYO15A | c.6473T>C (p.Phe2158Ser) n.58T>C c.6413T>C (p.Phe2138Ser) c.6342+71T>C (n.6342+71T>C) c.6467T>C (p.Phe2156Ser) n.7072T>C c.6476T>C (p.Phe2159Ser) c.6213+1479T>C (n.6213+1479T>C) | gnomAD v4 |
17 | g.18146071T>G | CA398607284 | MYO15A | c.6473T>G (p.Phe2158Cys) n.58T>G c.6413T>G (p.Phe2138Cys) c.6342+71T>G (n.6342+71T>G) c.6467T>G (p.Phe2156Cys) n.7072T>G c.6476T>G (p.Phe2159Cys) c.6213+1479T>G (n.6213+1479T>G) | |
17 | g.18146072T>A | CA398607287 | MYO15A | c.6474T>A (p.Phe2158Leu) n.59T>A c.6414T>A (p.Phe2138Leu) c.6342+72T>A (n.6342+72T>A) c.6468T>A (p.Phe2156Leu) n.7073T>A c.6477T>A (p.Phe2159Leu) c.6213+1480T>A (n.6213+1480T>A) | |
17 | g.18146072T>C | CA498430573 | MYO15A | c.6474T>C (p.Phe2158=) n.59T>C c.6414T>C (p.Phe2138=) c.6342+72T>C (n.6342+72T>C) c.6468T>C (p.Phe2156=) n.7073T>C c.6477T>C (p.Phe2159=) c.6213+1480T>C (n.6213+1480T>C) | |
17 | g.18146072T>G | CA398607290 | MYO15A | c.6474T>G (p.Phe2158Leu) n.59T>G c.6414T>G (p.Phe2138Leu) c.6342+72T>G (n.6342+72T>G) c.6468T>G (p.Phe2156Leu) n.7073T>G c.6477T>G (p.Phe2159Leu) c.6213+1480T>G (n.6213+1480T>G) | |
17 | g.18146073G>A | CA398607294 | MYO15A | c.6475G>A (p.Ala2159Thr) n.60G>A c.6415G>A (p.Ala2139Thr) c.6342+73G>A (n.6342+73G>A) c.6469G>A (p.Ala2157Thr) n.7074G>A c.6478G>A (p.Ala2160Thr) c.6213+1481G>A (n.6213+1481G>A) | |
17 | g.18146073G>C | CA398607295 | MYO15A | c.6475G>C (p.Ala2159Pro) n.60G>C c.6415G>C (p.Ala2139Pro) c.6342+73G>C (n.6342+73G>C) c.6469G>C (p.Ala2157Pro) n.7074G>C c.6478G>C (p.Ala2160Pro) c.6213+1481G>C (n.6213+1481G>C) | |
17 | g.18146073G>T | CA398607297 | MYO15A | c.6475G>T (p.Ala2159Ser) n.60G>T c.6415G>T (p.Ala2139Ser) c.6342+73G>T (n.6342+73G>T) c.6469G>T (p.Ala2157Ser) n.7074G>T c.6478G>T (p.Ala2160Ser) c.6213+1481G>T (n.6213+1481G>T) | |
17 | g.18146074C>A | CA398607304 | MYO15A | c.6476C>A (p.Ala2159Glu) n.61C>A c.6416C>A (p.Ala2139Glu) c.6342+74C>A (n.6342+74C>A) c.6470C>A (p.Ala2157Glu) n.7075C>A c.6479C>A (p.Ala2160Glu) c.6213+1482C>A (n.6213+1482C>A) | |
17 | g.18146074C>G | CA398607301 | MYO15A | c.6476C>G (p.Ala2159Gly) n.61C>G c.6416C>G (p.Ala2139Gly) c.6342+74C>G (n.6342+74C>G) c.6470C>G (p.Ala2157Gly) n.7075C>G c.6479C>G (p.Ala2160Gly) c.6213+1482C>G (n.6213+1482C>G) | |
17 | g.18146074C>T | CA398607299 | MYO15A | c.6476C>T (p.Ala2159Val) n.61C>T c.6416C>T (p.Ala2139Val) c.6342+74C>T (n.6342+74C>T) c.6470C>T (p.Ala2157Val) n.7075C>T c.6479C>T (p.Ala2160Val) c.6213+1482C>T (n.6213+1482C>T) | gnomAD v4 |
17 | g.18146075A>C | CA498430588 | MYO15A | c.6477A>C (p.Ala2159=) n.62A>C c.6417A>C (p.Ala2139=) c.6342+75A>C (n.6342+75A>C) c.6471A>C (p.Ala2157=) n.7076A>C c.6480A>C (p.Ala2160=) c.6213+1483A>C (n.6213+1483A>C) | |
17 | g.18146075A>G | CA498430589 | MYO15A | c.6477A>G (p.Ala2159=) n.62A>G c.6417A>G (p.Ala2139=) c.6342+75A>G (n.6342+75A>G) c.6471A>G (p.Ala2157=) n.7076A>G c.6480A>G (p.Ala2160=) c.6213+1483A>G (n.6213+1483A>G) | |
17 | g.18146075A>T | CA498430590 | MYO15A | c.6477A>T (p.Ala2159=) n.62A>T c.6417A>T (p.Ala2139=) c.6342+75A>T (n.6342+75A>T) c.6471A>T (p.Ala2157=) n.7076A>T c.6480A>T (p.Ala2160=) c.6213+1483A>T (n.6213+1483A>T) | |
17 | g.18146076C>A | CA398607308 | MYO15A | c.6478C>A (p.Pro2160Thr) n.63C>A c.6418C>A (p.Pro2140Thr) c.6342+76C>A (n.6342+76C>A) c.6472C>A (p.Pro2158Thr) n.7077C>A c.6481C>A (p.Pro2161Thr) c.6213+1484C>A (n.6213+1484C>A) | |
17 | g.18146076C= | CA2250850371 | MYO15A | c.6478C= (p.Pro2160=) n.63C= c.6418C= (p.Pro2140=) c.6342+76C= (n.6342+76C=) c.6472C= (p.Pro2158=) n.7077C= c.6481C= (p.Pro2161=) c.6213+1484C= (n.6213+1484C=) | |
17 | g.18146076C>G | CA398607311 | MYO15A | c.6478C>G (p.Pro2160Ala) n.63C>G c.6418C>G (p.Pro2140Ala) c.6342+76C>G (n.6342+76C>G) c.6472C>G (p.Pro2158Ala) n.7077C>G c.6481C>G (p.Pro2161Ala) c.6213+1484C>G (n.6213+1484C>G) | |
17 | g.18146076C>T | CA398607316 | MYO15A | c.6478C>T (p.Pro2160Ser) n.63C>T c.6418C>T (p.Pro2140Ser) c.6342+76C>T (n.6342+76C>T) c.6472C>T (p.Pro2158Ser) n.7077C>T c.6481C>T (p.Pro2161Ser) c.6213+1484C>T (n.6213+1484C>T) | dbSNP gnomAD v2 |
17 | g.18146077del | CA2636448611 | MYO15A | c.6479del (p.Pro2160LeufsTer?) n.64del c.6419del (p.Pro2140LeufsTer?) c.6342+77del (n.6342+77del) c.6473del (p.Pro2158LeufsTer?) n.7078del c.6482del (p.Pro2161LeufsTer?) c.6213+1485del (n.6213+1485del) | ClinVar gnomAD v4 |
17 | g.18146077C>A | CA398607319 | MYO15A | c.6479C>A (p.Pro2160His) n.64C>A c.6419C>A (p.Pro2140His) c.6342+77C>A (n.6342+77C>A) c.6473C>A (p.Pro2158His) n.7078C>A c.6482C>A (p.Pro2161His) c.6213+1485C>A (n.6213+1485C>A) | |
17 | g.18146077C>G | CA398607321 | MYO15A | c.6479C>G (p.Pro2160Arg) n.64C>G c.6419C>G (p.Pro2140Arg) c.6342+77C>G (n.6342+77C>G) c.6473C>G (p.Pro2158Arg) n.7078C>G c.6482C>G (p.Pro2161Arg) c.6213+1485C>G (n.6213+1485C>G) | |
17 | g.18146077C>T | CA398607324 | MYO15A | c.6479C>T (p.Pro2160Leu) n.64C>T c.6419C>T (p.Pro2140Leu) c.6342+77C>T (n.6342+77C>T) c.6473C>T (p.Pro2158Leu) n.7078C>T c.6482C>T (p.Pro2161Leu) c.6213+1485C>T (n.6213+1485C>T) | |
17 | g.18146078T>A | CA498430597 | MYO15A | c.6480T>A (p.Pro2160=) n.65T>A c.6420T>A (p.Pro2140=) c.6342+78T>A (n.6342+78T>A) c.6474T>A (p.Pro2158=) n.7079T>A c.6483T>A (p.Pro2161=) c.6213+1486T>A (n.6213+1486T>A) | |
17 | g.18146078T>C | CA498430598 | MYO15A | c.6480T>C (p.Pro2160=) n.65T>C c.6420T>C (p.Pro2140=) c.6342+78T>C (n.6342+78T>C) c.6474T>C (p.Pro2158=) n.7079T>C c.6483T>C (p.Pro2161=) c.6213+1486T>C (n.6213+1486T>C) | |
17 | g.18146078T>G | CA498430595 | MYO15A | c.6480T>G (p.Pro2160=) n.65T>G c.6420T>G (p.Pro2140=) c.6342+78T>G (n.6342+78T>G) c.6474T>G (p.Pro2158=) n.7079T>G c.6483T>G (p.Pro2161=) c.6213+1486T>G (n.6213+1486T>G) | |
17 | g.18146079del | CA2576190395 | MYO15A | c.6481del (p.Ser2161ProfsTer?) n.66del c.6421del (p.Ser2141ProfsTer?) c.6342+79del (n.6342+79del) c.6475del (p.Ser2159ProfsTer?) n.7080del c.6484del (p.Ser2162ProfsTer?) c.6213+1487del (n.6213+1487del) | gnomAD v4 |
17 | g.18146079T>A | CA398607327 | MYO15A | c.6481T>A (p.Ser2161Thr) n.66T>A c.6421T>A (p.Ser2141Thr) c.6342+79T>A (n.6342+79T>A) c.6475T>A (p.Ser2159Thr) n.7080T>A c.6484T>A (p.Ser2162Thr) c.6213+1487T>A (n.6213+1487T>A) | |
17 | g.18146079T>C | CA398607330 | MYO15A | c.6481T>C (p.Ser2161Pro) n.66T>C c.6421T>C (p.Ser2141Pro) c.6342+79T>C (n.6342+79T>C) c.6475T>C (p.Ser2159Pro) n.7080T>C c.6484T>C (p.Ser2162Pro) c.6213+1487T>C (n.6213+1487T>C) | |
17 | g.18146079T>G | CA398607333 | MYO15A | c.6481T>G (p.Ser2161Ala) n.66T>G c.6421T>G (p.Ser2141Ala) c.6342+79T>G (n.6342+79T>G) c.6475T>G (p.Ser2159Ala) n.7080T>G c.6484T>G (p.Ser2162Ala) c.6213+1487T>G (n.6213+1487T>G) | |
17 | g.18146079_18146080delinsTC | CA2250850372 | MYO15A | c.6481_6482delinsTC (p.Ser2161=) n.66_67delinsTC c.6421_6422delinsTC (p.Ser2141=) c.6342+79_6342+80delinsTC (n.6342+79_6342+80delinsTC) c.6475_6476delinsTC (p.Ser2159=) n.7080_7081delinsTC c.6484_6485delinsTC (p.Ser2162=) c.6213+1487_6213+1488delinsTC (n.6213+1487_6213+1488delinsTC) | |
17 | g.18146080C>A | CA398607336 | MYO15A | c.6482C>A (p.Ser2161Tyr) n.67C>A c.6422C>A (p.Ser2141Tyr) c.6342+80C>A (n.6342+80C>A) c.6476C>A (p.Ser2159Tyr) n.7081C>A c.6485C>A (p.Ser2162Tyr) c.6213+1488C>A (n.6213+1488C>A) | |
17 | g.18146080C>G | CA398607337 | MYO15A | c.6482C>G (p.Ser2161Cys) n.67C>G c.6422C>G (p.Ser2141Cys) c.6342+80C>G (n.6342+80C>G) c.6476C>G (p.Ser2159Cys) n.7081C>G c.6485C>G (p.Ser2162Cys) c.6213+1488C>G (n.6213+1488C>G) | |
17 | g.18146080C>T | CA398607339 | MYO15A | c.6482C>T (p.Ser2161Phe) n.67C>T c.6422C>T (p.Ser2141Phe) c.6342+80C>T (n.6342+80C>T) c.6476C>T (p.Ser2159Phe) n.7081C>T c.6485C>T (p.Ser2162Phe) c.6213+1488C>T (n.6213+1488C>T) | |
17 | g.18146083del | CA8424594 | MYO15A | c.6485del (p.Pro2162ArgfsTer?) n.70del c.6425del (p.Pro2142ArgfsTer?) c.6342+83del (n.6342+83del) c.6479del (p.Pro2160ArgfsTer?) n.7084del c.6488del (p.Pro2163ArgfsTer?) c.6213+1491del (n.6213+1491del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18146081C>A | CA498430603 | MYO15A | c.6483C>A (p.Ser2161=) n.68C>A c.6423C>A (p.Ser2141=) c.6342+81C>A (n.6342+81C>A) c.6477C>A (p.Ser2159=) n.7082C>A c.6486C>A (p.Ser2162=) c.6213+1489C>A (n.6213+1489C>A) | |
17 | g.18146081C= | CA2250850373 | MYO15A | c.6483C= (p.Ser2161=) n.68C= c.6423C= (p.Ser2141=) c.6342+81C= (n.6342+81C=) c.6477C= (p.Ser2159=) n.7082C= c.6486C= (p.Ser2162=) c.6213+1489C= (n.6213+1489C=) | |
17 | g.18146081C>G | CA498430605 | MYO15A | c.6483C>G (p.Ser2161=) n.68C>G c.6423C>G (p.Ser2141=) c.6342+81C>G (n.6342+81C>G) c.6477C>G (p.Ser2159=) n.7082C>G c.6486C>G (p.Ser2162=) c.6213+1489C>G (n.6213+1489C>G) | |
17 | g.18146081C>T | CA498430607 | MYO15A | c.6483C>T (p.Ser2161=) n.68C>T c.6423C>T (p.Ser2141=) c.6342+81C>T (n.6342+81C>T) c.6477C>T (p.Ser2159=) n.7082C>T c.6486C>T (p.Ser2162=) c.6213+1489C>T (n.6213+1489C>T) | dbSNP gnomAD v4 |
17 | g.18146082C>A | CA8424595 | MYO15A | c.6484C>A (p.Pro2162Thr) n.69C>A c.6424C>A (p.Pro2142Thr) c.6342+82C>A (n.6342+82C>A) c.6478C>A (p.Pro2160Thr) n.7083C>A c.6487C>A (p.Pro2163Thr) c.6213+1490C>A (n.6213+1490C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.18146082C= | CA2250850374 | MYO15A | c.6484C= (p.Pro2162=) n.69C= c.6424C= (p.Pro2142=) c.6342+82C= (n.6342+82C=) c.6478C= (p.Pro2160=) n.7083C= c.6487C= (p.Pro2163=) c.6213+1490C= (n.6213+1490C=) | |
17 | g.18146082C>G | CA398607346 | MYO15A | c.6484C>G (p.Pro2162Ala) n.69C>G c.6424C>G (p.Pro2142Ala) c.6342+82C>G (n.6342+82C>G) c.6478C>G (p.Pro2160Ala) n.7083C>G c.6487C>G (p.Pro2163Ala) c.6213+1490C>G (n.6213+1490C>G) | dbSNP |
17 | g.18146082C>T | CA398607347 | MYO15A | c.6484C>T (p.Pro2162Ser) n.69C>T c.6424C>T (p.Pro2142Ser) c.6342+82C>T (n.6342+82C>T) c.6478C>T (p.Pro2160Ser) n.7083C>T c.6487C>T (p.Pro2163Ser) c.6213+1490C>T (n.6213+1490C>T) | |
17 | g.18146083C>A | CA398607352 | MYO15A | c.6485C>A (p.Pro2162Gln) n.70C>A c.6425C>A (p.Pro2142Gln) c.6342+83C>A (n.6342+83C>A) c.6479C>A (p.Pro2160Gln) n.7084C>A c.6488C>A (p.Pro2163Gln) c.6213+1491C>A (n.6213+1491C>A) | |
17 | g.18146083C= | CA2250850375 | MYO15A | c.6485C= (p.Pro2162=) n.70C= c.6425C= (p.Pro2142=) c.6342+83C= (n.6342+83C=) c.6479C= (p.Pro2160=) n.7084C= c.6488C= (p.Pro2163=) c.6213+1491C= (n.6213+1491C=) | |
17 | g.18146083C>G | CA398607357 | MYO15A | c.6485C>G (p.Pro2162Arg) n.70C>G c.6425C>G (p.Pro2142Arg) c.6342+83C>G (n.6342+83C>G) c.6479C>G (p.Pro2160Arg) n.7084C>G c.6488C>G (p.Pro2163Arg) c.6213+1491C>G (n.6213+1491C>G) | gnomAD v4 |
17 | g.18146083C>T | CA8424596 | MYO15A | c.6485C>T (p.Pro2162Leu) n.70C>T c.6425C>T (p.Pro2142Leu) c.6342+83C>T (n.6342+83C>T) c.6479C>T (p.Pro2160Leu) n.7084C>T c.6488C>T (p.Pro2163Leu) c.6213+1491C>T (n.6213+1491C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146084del | CA2695224491 | MYO15A | c.6486del (p.Cys2163AlafsTer?) n.71del c.6426del (p.Cys2143AlafsTer?) c.6342+84del (n.6342+84del) c.6480del (p.Cys2161AlafsTer?) n.7085del c.6489del (p.Cys2164AlafsTer?) c.6213+1492del (n.6213+1492del) | |
17 | g.18146084G>A | CA498430611 | MYO15A | c.6486G>A (p.Pro2162=) n.71G>A c.6426G>A (p.Pro2142=) c.6342+84G>A (n.6342+84G>A) c.6480G>A (p.Pro2160=) n.7085G>A c.6489G>A (p.Pro2163=) c.6213+1492G>A (n.6213+1492G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146084G>C | CA498430612 | MYO15A | c.6486G>C (p.Pro2162=) n.71G>C c.6426G>C (p.Pro2142=) c.6342+84G>C (n.6342+84G>C) c.6480G>C (p.Pro2160=) n.7085G>C c.6489G>C (p.Pro2163=) c.6213+1492G>C (n.6213+1492G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.18146084G= | CA2250850376 | MYO15A | c.6486G= (p.Pro2162=) n.71G= c.6426G= (p.Pro2142=) c.6342+84G= (n.6342+84G=) c.6480G= (p.Pro2160=) n.7085G= c.6489G= (p.Pro2163=) c.6213+1492G= (n.6213+1492G=) | |
17 | g.18146084G>T | CA498430613 | MYO15A | c.6486G>T (p.Pro2162=) n.71G>T c.6426G>T (p.Pro2142=) c.6342+84G>T (n.6342+84G>T) c.6480G>T (p.Pro2160=) n.7085G>T c.6489G>T (p.Pro2163=) c.6213+1492G>T (n.6213+1492G>T) |