Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.135998473_135998493del | CA2580101559 | SLC9A6 | c.604-9_615del c.448-9_459del c.352-9_363del n.391-9_402del c.391-9_402del n.389-9_400del c.508-9_519del | ClinVar |
X | g.135998477_135998490del | CA2694793693 | SLC9A6 | c.604-5_612del c.448-5_456del c.352-5_360del n.391-5_399del c.391-5_399del n.389-5_397del c.508-5_516del | gnomAD v4 |
X | g.135998477_135998489del | CA2694793695 | SLC9A6 | c.604-5_611del c.448-5_455del c.352-5_359del n.391-5_398del c.391-5_398del n.389-5_396del c.508-5_515del | gnomAD v4 |
X | g.135998476_135998477delinsTG | CA2460189917 | SLC9A6 | c.604-6_604-5delinsTG (n.604-6_604-5delinsTG) c.448-6_448-5delinsTG (n.448-6_448-5delinsTG) c.352-6_352-5delinsTG (n.352-6_352-5delinsTG) n.391-6_391-5delinsTG c.391-6_391-5delinsTG (n.391-6_391-5delinsTG) n.389-6_389-5delinsTG c.508-6_508-5delinsTG (n.508-6_508-5delinsTG) | |
X | g.135998476_135998486delinsTGTCAGAGACA | CA2460189916 | SLC9A6 | c.604-6_608delinsTGTCAGAGACA c.448-6_452delinsTGTCAGAGACA c.352-6_356delinsTGTCAGAGACA n.391-6_395delinsTGTCAGAGACA c.391-6_395delinsTGTCAGAGACA n.389-6_393delinsTGTCAGAGACA c.508-6_512delinsTGTCAGAGACA | |
X | g.135998477del | CA336247612 | SLC9A6 | c.604-5del (n.604-5del) c.448-5del (n.448-5del) c.352-5del (n.352-5del) n.391-5del c.391-5del (n.391-5del) n.389-5del c.508-5del (n.508-5del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998477G>A | CA2694793699 | SLC9A6 | c.604-5G>A (n.604-5G>A) c.448-5G>A (n.448-5G>A) c.352-5G>A (n.352-5G>A) n.391-5G>A c.391-5G>A (n.391-5G>A) n.389-5G>A c.508-5G>A (n.508-5G>A) | gnomAD v4 |
X | g.135998477G= | CA2460189918 | SLC9A6 | c.604-5G= (n.604-5G=) c.448-5G= (n.448-5G=) c.352-5G= (n.352-5G=) n.391-5G= c.391-5G= (n.391-5G=) n.389-5G= c.508-5G= (n.508-5G=) | |
X | g.135998477G>T | CA10524675 | SLC9A6 | c.604-5G>T (n.604-5G>T) c.448-5G>T (n.448-5G>T) c.352-5G>T (n.352-5G>T) n.391-5G>T c.391-5G>T (n.391-5G>T) n.389-5G>T c.508-5G>T (n.508-5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998477_135998486del | CA518743353 | SLC9A6 | c.604-5_608del c.448-5_452del c.352-5_356del n.391-5_395del c.391-5_395del n.389-5_393del c.508-5_512del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998478T>A | CA2694793700 | SLC9A6 | c.604-4T>A (n.604-4T>A) c.448-4T>A (n.448-4T>A) c.352-4T>A (n.352-4T>A) n.391-4T>A c.391-4T>A (n.391-4T>A) n.389-4T>A c.508-4T>A (n.508-4T>A) | gnomAD v4 |
X | g.135998478T>C | CA2694793701 | SLC9A6 | c.604-4T>C (n.604-4T>C) c.448-4T>C (n.448-4T>C) c.352-4T>C (n.352-4T>C) n.391-4T>C c.391-4T>C (n.391-4T>C) n.389-4T>C c.508-4T>C (n.508-4T>C) | gnomAD v4 |
X | g.135998479C>A | CA2694793703 | SLC9A6 | c.604-3C>A (n.604-3C>A) c.448-3C>A (n.448-3C>A) c.352-3C>A (n.352-3C>A) n.391-3C>A c.391-3C>A (n.391-3C>A) n.389-3C>A c.508-3C>A (n.508-3C>A) | gnomAD v4 |
X | g.135998479C= | CA2460189920 | SLC9A6 | c.604-3C= (n.604-3C=) c.448-3C= (n.448-3C=) c.352-3C= (n.352-3C=) n.391-3C= c.391-3C= (n.391-3C=) n.389-3C= c.508-3C= (n.508-3C=) | |
X | g.135998479C>G | CA2694793702 | SLC9A6 | c.604-3C>G (n.604-3C>G) c.448-3C>G (n.448-3C>G) c.352-3C>G (n.352-3C>G) n.391-3C>G c.391-3C>G (n.391-3C>G) n.389-3C>G c.508-3C>G (n.508-3C>G) | gnomAD v4 |
X | g.135998479C>T | CA644623061 | SLC9A6 | c.604-3C>T (n.604-3C>T) c.448-3C>T (n.448-3C>T) c.352-3C>T (n.352-3C>T) n.391-3C>T c.391-3C>T (n.391-3C>T) n.389-3C>T c.508-3C>T (n.508-3C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998479_135998480del | CA644623062 | SLC9A6 | c.604-3_604-2del (n.604-3_604-2del) c.448-3_448-2del (n.448-3_448-2del) c.352-3_352-2del (n.352-3_352-2del) n.391-3_391-2del c.391-3_391-2del (n.391-3_391-2del) n.389-3_389-2del c.508-3_508-2del (n.508-3_508-2del) | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998479_135998481del | CA1137586536 | SLC9A6 | c.604-3_604-1del (n.604-3_604-1del) c.448-3_448-1del (n.448-3_448-1del) c.352-3_352-1del (n.352-3_352-1del) n.391-3_391-1del c.391-3_391-1del (n.391-3_391-1del) n.389-3_389-1del c.508-3_508-1del (n.508-3_508-1del) | gnomAD v3 gnomAD v4 |
X | g.135998479_135998481delinsCAG | CA2460189919 | SLC9A6 | c.604-3_604-1delinsCAG (n.604-3_604-1delinsCAG) c.448-3_448-1delinsCAG (n.448-3_448-1delinsCAG) c.352-3_352-1delinsCAG (n.352-3_352-1delinsCAG) n.391-3_391-1delinsCAG c.391-3_391-1delinsCAG (n.391-3_391-1delinsCAG) n.389-3_389-1delinsCAG c.508-3_508-1delinsCAG (n.508-3_508-1delinsCAG) | |
X | g.135998479_135998482del | CA1137586537 | SLC9A6 | c.604-3_604del c.448-3_448del c.352-3_352del n.391-3_391del c.391-3_391del n.389-3_389del c.508-3_508del | gnomAD v3 gnomAD v4 |
X | g.135998479_135998483del | CA2823729192 | SLC9A6 | c.604-3_605del c.448-3_449del c.352-3_353del n.391-3_392del c.391-3_392del n.389-3_390del c.508-3_509del | |
X | g.135998479_135998485del | CA644623063 | SLC9A6 | c.604-3_607del c.448-3_451del c.352-3_355del n.391-3_394del c.391-3_394del n.389-3_392del c.508-3_511del | gnomAD v2 gnomAD v4 |
X | g.135998479_135998486del | CA644623064 | SLC9A6 | c.604-3_608del c.448-3_452del c.352-3_356del n.391-3_395del c.391-3_395del n.389-3_393del c.508-3_512del | gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998481_135998486del | CA2694793704 | SLC9A6 | c.604-1_608del c.448-1_452del c.352-1_356del n.391-1_395del c.391-1_395del n.389-1_393del c.508-1_512del | gnomAD v4 |
X | g.135998480A= | CA2460189921 | SLC9A6 | c.604-2A= (n.604-2A=) c.448-2A= (n.448-2A=) c.352-2A= (n.352-2A=) n.391-2A= c.391-2A= (n.391-2A=) n.389-2A= c.508-2A= (n.508-2A=) | |
X | g.135998480A>C | CA414749876 | SLC9A6 | c.604-2A>C (n.604-2A>C) c.448-2A>C (n.448-2A>C) c.352-2A>C (n.352-2A>C) n.391-2A>C c.391-2A>C (n.391-2A>C) n.389-2A>C c.508-2A>C (n.508-2A>C) | gnomAD v4 |
X | g.135998480A>G | CA414749877 | SLC9A6 | c.604-2A>G (n.604-2A>G) c.448-2A>G (n.448-2A>G) c.352-2A>G (n.352-2A>G) n.391-2A>G c.391-2A>G (n.391-2A>G) n.389-2A>G c.508-2A>G (n.508-2A>G) | gnomAD v4 |
X | g.135998480A>T | CA414749878 | SLC9A6 | c.604-2A>T (n.604-2A>T) c.448-2A>T (n.448-2A>T) c.352-2A>T (n.352-2A>T) n.391-2A>T c.391-2A>T (n.391-2A>T) n.389-2A>T c.508-2A>T (n.508-2A>T) | gnomAD v3 gnomAD v4 |
X | g.135998483_135998484del | CA16621204 | SLC9A6 | c.605_606del c.449_450del c.353_354del n.392_393del c.392_393del n.390_391del c.509_510del | ClinVar dbSNP |
X | g.135998480_135998481insTTT | CA644623065 | SLC9A6 | c.604-2_604-1insTTT (n.604-2_604-1insTTT) c.448-2_448-1insTTT (n.448-2_448-1insTTT) c.352-2_352-1insTTT (n.352-2_352-1insTTT) n.391-2_391-1insTTT c.391-2_391-1insTTT (n.391-2_391-1insTTT) n.389-2_389-1insTTT c.508-2_508-1insTTT (n.508-2_508-1insTTT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998481G>A | CA180441 | SLC9A6 | c.604-1G>A (n.604-1G>A) c.448-1G>A (n.448-1G>A) c.352-1G>A (n.352-1G>A) n.391-1G>A c.391-1G>A (n.391-1G>A) n.389-1G>A c.508-1G>A (n.508-1G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.135998481G>C | CA414749879 | SLC9A6 | c.604-1G>C (n.604-1G>C) c.448-1G>C (n.448-1G>C) c.352-1G>C (n.352-1G>C) n.391-1G>C c.391-1G>C (n.391-1G>C) n.389-1G>C c.508-1G>C (n.508-1G>C) | |
X | g.135998481G= | CA2460189922 | SLC9A6 | c.604-1G= (n.604-1G=) c.448-1G= (n.448-1G=) c.352-1G= (n.352-1G=) n.391-1G= c.391-1G= (n.391-1G=) n.389-1G= c.508-1G= (n.508-1G=) | |
X | g.135998481G>T | CA414749880 | SLC9A6 | c.604-1G>T (n.604-1G>T) c.448-1G>T (n.448-1G>T) c.352-1G>T (n.352-1G>T) n.391-1G>T c.391-1G>T (n.391-1G>T) n.389-1G>T c.508-1G>T (n.508-1G>T) | gnomAD v3 gnomAD v4 |
X | g.135998481dup | CA2823729193 | SLC9A6 | c.604-1dup (n.604-1dup) c.448-1dup (n.448-1dup) c.352-1dup (n.352-1dup) n.391-1dup c.391-1dup (n.391-1dup) n.389-1dup c.508-1dup (n.508-1dup) | |
X | g.135998481_135998482insTTTT | CA1137586553 | SLC9A6 | c.604-1_604insTTTT (n.604-1_604insTTTT) c.448-1_448insTTTT (n.448-1_448insTTTT) c.352-1_352insTTTT (n.352-1_352insTTTT) n.391-1_391insTTTT c.391-1_391insTTTT (n.391-1_391insTTTT) n.389-1_389insTTTT c.508-1_508insTTTT (n.508-1_508insTTTT) | gnomAD v3 gnomAD v4 |
X | g.135998482A= | CA2460189923 | SLC9A6 | c.604A= (p.Arg202=) c.448A= (p.Arg150=) c.352A= (p.Arg118=) n.391A= c.391A= (p.Arg131=) n.389A= c.508A= (p.Arg170=) | |
X | g.135998482A>C | CA518743396 | SLC9A6 | c.604A>C (p.Arg202=) c.448A>C (p.Arg150=) c.352A>C (p.Arg118=) n.391A>C c.391A>C (p.Arg131=) n.389A>C c.508A>C (p.Arg170=) | |
X | g.135998482A>G | CA318515 | SLC9A6 | c.604A>G (p.Arg202Gly) c.448A>G (p.Arg150Gly) c.352A>G (p.Arg118Gly) n.391A>G c.391A>G (p.Arg131Gly) n.389A>G c.508A>G (p.Arg170Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.135998482A>T | CA414749881 | SLC9A6 | c.604A>T (p.Arg202Ter) c.448A>T (p.Arg150Ter) c.352A>T (p.Arg118Ter) n.391A>T c.391A>T (p.Arg131Ter) n.389A>T c.508A>T (p.Arg170Ter) | gnomAD v3 gnomAD v4 |
X | g.135998483G>A | CA10524676 | SLC9A6 | c.605G>A (p.Arg202Lys) c.449G>A (p.Arg150Lys) c.353G>A (p.Arg118Lys) n.392G>A c.392G>A (p.Arg131Lys) n.390G>A c.509G>A (p.Arg170Lys) | dbSNP ExAC gnomAD v4 |
X | g.135998483G>C | CA414749882 | SLC9A6 | c.605G>C (p.Arg202Thr) c.449G>C (p.Arg150Thr) c.353G>C (p.Arg118Thr) n.392G>C c.392G>C (p.Arg131Thr) n.390G>C c.509G>C (p.Arg170Thr) | |
X | g.135998483G= | CA2460189924 | SLC9A6 | c.605G= (p.Arg202=) c.449G= (p.Arg150=) c.353G= (p.Arg118=) n.392G= c.392G= (p.Arg131=) n.390G= c.509G= (p.Arg170=) | |
X | g.135998483G>T | CA414749883 | SLC9A6 | c.605G>T (p.Arg202Ile) c.449G>T (p.Arg150Ile) c.353G>T (p.Arg118Ile) n.392G>T c.392G>T (p.Arg131Ile) n.390G>T c.509G>T (p.Arg170Ile) | gnomAD v3 gnomAD v4 |
X | g.135998484A= | CA2460189925 | SLC9A6 | c.606A= (p.Arg202=) c.450A= (p.Arg150=) c.354A= (p.Arg118=) n.393A= c.393A= (p.Arg131=) n.391A= c.510A= (p.Arg170=) | |
X | g.135998484A>C | CA414749884 | SLC9A6 | c.606A>C (p.Arg202Ser) c.450A>C (p.Arg150Ser) c.354A>C (p.Arg118Ser) n.393A>C c.393A>C (p.Arg131Ser) n.391A>C c.510A>C (p.Arg170Ser) | |
X | g.135998484A>G | CA518743423 | SLC9A6 | c.606A>G (p.Arg202=) c.450A>G (p.Arg150=) c.354A>G (p.Arg118=) n.393A>G c.393A>G (p.Arg131=) n.391A>G c.510A>G (p.Arg170=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.135998484A>T | CA414749885 | SLC9A6 | c.606A>T (p.Arg202Ser) c.450A>T (p.Arg150Ser) c.354A>T (p.Arg118Ser) n.393A>T c.393A>T (p.Arg131Ser) n.391A>T c.510A>T (p.Arg170Ser) | gnomAD v4 |
X | g.135998485C>A | CA414749888 | SLC9A6 | c.607C>A (p.His203Asn) c.451C>A (p.His151Asn) c.355C>A (p.His119Asn) n.394C>A c.394C>A (p.His132Asn) n.392C>A c.511C>A (p.His171Asn) | gnomAD v3 gnomAD v4 |
X | g.135998485C>G | CA414749887 | SLC9A6 | c.607C>G (p.His203Asp) c.451C>G (p.His151Asp) c.355C>G (p.His119Asp) n.394C>G c.394C>G (p.His132Asp) n.392C>G c.511C>G (p.His171Asp) | |
X | g.135998485C>T | CA414749886 | SLC9A6 | c.607C>T (p.His203Tyr) c.451C>T (p.His151Tyr) c.355C>T (p.His119Tyr) n.394C>T c.394C>T (p.His132Tyr) n.392C>T c.511C>T (p.His171Tyr) | gnomAD v4 |
X | g.135998485_135998486delinsCA | CA2460189927 | SLC9A6 | c.607_608delinsCA (p.His203=) c.451_452delinsCA (p.His151=) c.355_356delinsCA (p.His119=) n.394_395delinsCA c.394_395delinsCA (p.His132=) n.392_393delinsCA c.511_512delinsCA (p.His171=) | |
X | g.135998485_135998487delinsCAT | CA2460189926 | SLC9A6 | c.607_609delinsCAT (p.His203=) c.451_453delinsCAT (p.His151=) c.355_357delinsCAT (p.His119=) n.394_396delinsCAT c.394_396delinsCAT (p.His132=) n.392_394delinsCAT c.511_513delinsCAT (p.His171=) | |
X | g.135998486del | CA2460189928 | SLC9A6 | c.608del (p.His203LeufsTer10) c.452del (p.His151LeufsTer10) c.356del (p.His119LeufsTer10) n.395del c.395del (p.His132LeufsTer10) n.393del c.512del (p.His171LeufsTer10) | dbSNP |
X | g.135998486A= | CA2460189929 | SLC9A6 | c.608A= (p.His203=) c.452A= (p.His151=) c.356A= (p.His119=) n.395A= c.395A= (p.His132=) n.393A= c.512A= (p.His171=) | |
X | g.135998486A>C | CA414749889 | SLC9A6 | c.608A>C (p.His203Pro) c.452A>C (p.His151Pro) c.356A>C (p.His119Pro) n.395A>C c.395A>C (p.His132Pro) n.393A>C c.512A>C (p.His171Pro) | gnomAD v3 gnomAD v4 |
X | g.135998486A>G | CA414749890 | SLC9A6 | c.608A>G (p.His203Arg) c.452A>G (p.His151Arg) c.356A>G (p.His119Arg) n.395A>G c.395A>G (p.His132Arg) n.393A>G c.512A>G (p.His171Arg) | gnomAD v4 |
X | g.135998486A>T | CA318501 | SLC9A6 | c.608A>T (p.His203Leu) c.452A>T (p.His151Leu) c.356A>T (p.His119Leu) n.395A>T c.395A>T (p.His132Leu) n.393A>T c.512A>T (p.His171Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.135998486_135998487del | CA121512 | SLC9A6 | c.608_609del (p.His203LeufsTer?) c.452_453del (p.His151LeufsTer?) c.356_357del (p.His119LeufsTer?) n.395_396del c.395_396del (p.His132LeufsTer?) n.393_394del c.512_513del (p.His171LeufsTer?) | ClinVar dbSNP |
X | g.135998487T>A | CA414749891 | SLC9A6 | c.609T>A (p.His203Gln) c.453T>A (p.His151Gln) c.357T>A (p.His119Gln) n.396T>A c.396T>A (p.His132Gln) n.394T>A c.513T>A (p.His171Gln) | gnomAD v4 |
X | g.135998487T>C | CA518743470 | SLC9A6 | c.609T>C (p.His203=) c.453T>C (p.His151=) c.357T>C (p.His119=) n.396T>C c.396T>C (p.His132=) n.394T>C c.513T>C (p.His171=) | gnomAD v4 |
X | g.135998487T>G | CA414749892 | SLC9A6 | c.609T>G (p.His203Gln) c.453T>G (p.His151Gln) c.357T>G (p.His119Gln) n.396T>G c.396T>G (p.His132Gln) n.394T>G c.513T>G (p.His171Gln) | |
X | g.135998490_135998491insATTTTTTTTTTTT | CA1137586574 | SLC9A6 | c.612_613insATTTTTTTTTTTT (p.Phe205IlefsTer?) c.456_457insATTTTTTTTTTTT (p.Phe153IlefsTer?) c.360_361insATTTTTTTTTTTT (p.Phe121IlefsTer?) n.399_400insATTTTTTTTTTTT c.399_400insATTTTTTTTTTTT (p.Phe134IlefsTer?) n.397_398insATTTTTTTTTTTT c.516_517insATTTTTTTTTTTT (p.Phe173IlefsTer?) | gnomAD v3 gnomAD v4 |
X | g.135998493dup | CA645618072 | SLC9A6 | c.615dup (p.Arg206SerfsTer?) c.459dup (p.Arg154SerfsTer?) c.363dup (p.Arg122SerfsTer?) n.402dup c.402dup (p.Arg135SerfsTer?) n.400dup c.519dup (p.Arg174SerfsTer?) | gnomAD v4 COSMIC COSMIC |
X | g.135998493del | CA644623066 | SLC9A6 | c.615del (p.Arg206GlufsTer7) c.459del (p.Arg154GlufsTer7) c.363del (p.Arg122GlufsTer7) n.402del c.402del (p.Arg135GlufsTer7) n.400del c.519del (p.Arg174GlufsTer7) | gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.135998488T>A | CA414749893 | SLC9A6 | c.610T>A (p.Phe204Ile) c.454T>A (p.Phe152Ile) c.358T>A (p.Phe120Ile) n.397T>A c.397T>A (p.Phe133Ile) n.395T>A c.514T>A (p.Phe172Ile) | gnomAD v4 |
X | g.135998488T>C | CA414749894 | SLC9A6 | c.610T>C (p.Phe204Leu) c.454T>C (p.Phe152Leu) c.358T>C (p.Phe120Leu) n.397T>C c.397T>C (p.Phe133Leu) n.395T>C c.514T>C (p.Phe172Leu) | gnomAD v4 |
X | g.135998488T>G | CA245318 | SLC9A6 | c.610T>G (p.Phe204Val) c.454T>G (p.Phe152Val) c.358T>G (p.Phe120Val) n.397T>G c.397T>G (p.Phe133Val) n.395T>G c.514T>G (p.Phe172Val) | ClinVar dbSNP |
X | g.135998488T= | CA2460189930 | SLC9A6 | c.610T= (p.Phe204=) c.454T= (p.Phe152=) c.358T= (p.Phe120=) n.397T= c.397T= (p.Phe133=) n.395T= c.514T= (p.Phe172=) | |
X | g.135998489T>A | CA414749895 | SLC9A6 | c.611T>A (p.Phe204Tyr) c.455T>A (p.Phe152Tyr) c.359T>A (p.Phe120Tyr) n.398T>A c.398T>A (p.Phe133Tyr) n.396T>A c.515T>A (p.Phe172Tyr) | |
X | g.135998489T>C | CA414749896 | SLC9A6 | c.611T>C (p.Phe204Ser) c.455T>C (p.Phe152Ser) c.359T>C (p.Phe120Ser) n.398T>C c.398T>C (p.Phe133Ser) n.396T>C c.515T>C (p.Phe172Ser) | gnomAD v4 |
X | g.135998489T>G | CA414749897 | SLC9A6 | c.611T>G (p.Phe204Cys) c.455T>G (p.Phe152Cys) c.359T>G (p.Phe120Cys) n.398T>G c.398T>G (p.Phe133Cys) n.396T>G c.515T>G (p.Phe172Cys) | |
X | g.135998490T>A | CA414749898 | SLC9A6 | c.612T>A (p.Phe204Leu) c.456T>A (p.Phe152Leu) c.360T>A (p.Phe120Leu) n.399T>A c.399T>A (p.Phe133Leu) n.397T>A c.516T>A (p.Phe172Leu) | |
X | g.135998490T>C | CA518743511 | SLC9A6 | c.612T>C (p.Phe204=) c.456T>C (p.Phe152=) c.360T>C (p.Phe120=) n.399T>C c.399T>C (p.Phe133=) n.397T>C c.516T>C (p.Phe172=) | |
X | g.135998490T>G | CA414749899 | SLC9A6 | c.612T>G (p.Phe204Leu) c.456T>G (p.Phe152Leu) c.360T>G (p.Phe120Leu) n.399T>G c.399T>G (p.Phe133Leu) n.397T>G c.516T>G (p.Phe172Leu) | |
X | g.135998491T>A | CA414749900 | SLC9A6 | c.613T>A (p.Phe205Ile) c.457T>A (p.Phe153Ile) c.361T>A (p.Phe121Ile) n.400T>A c.400T>A (p.Phe134Ile) n.398T>A c.517T>A (p.Phe173Ile) | |
X | g.135998491T>C | CA414749901 | SLC9A6 | c.613T>C (p.Phe205Leu) c.457T>C (p.Phe153Leu) c.361T>C (p.Phe121Leu) n.400T>C c.400T>C (p.Phe134Leu) n.398T>C c.517T>C (p.Phe173Leu) | gnomAD v4 |
X | g.135998491T>G | CA414749902 | SLC9A6 | c.613T>G (p.Phe205Val) c.457T>G (p.Phe153Val) c.361T>G (p.Phe121Val) n.400T>G c.400T>G (p.Phe134Val) n.398T>G c.517T>G (p.Phe173Val) | |
X | g.135998492T>A | CA414749903 | SLC9A6 | c.614T>A (p.Phe205Tyr) c.458T>A (p.Phe153Tyr) c.362T>A (p.Phe121Tyr) n.401T>A c.401T>A (p.Phe134Tyr) n.399T>A c.518T>A (p.Phe173Tyr) | |
X | g.135998492T>C | CA414749904 | SLC9A6 | c.614T>C (p.Phe205Ser) c.458T>C (p.Phe153Ser) c.362T>C (p.Phe121Ser) n.401T>C c.401T>C (p.Phe134Ser) n.399T>C c.518T>C (p.Phe173Ser) | |
X | g.135998492T>G | CA414749905 | SLC9A6 | c.614T>G (p.Phe205Cys) c.458T>G (p.Phe153Cys) c.362T>G (p.Phe121Cys) n.401T>G c.401T>G (p.Phe134Cys) n.399T>G c.518T>G (p.Phe173Cys) | |
X | g.135998493T>A | CA414749906 | SLC9A6 | c.615T>A (p.Phe205Leu) c.459T>A (p.Phe153Leu) c.363T>A (p.Phe121Leu) n.402T>A c.402T>A (p.Phe134Leu) n.400T>A c.519T>A (p.Phe173Leu) | |
X | g.135998493T>C | CA518743560 | SLC9A6 | c.615T>C (p.Phe205=) c.459T>C (p.Phe153=) c.363T>C (p.Phe121=) n.402T>C c.402T>C (p.Phe134=) n.400T>C c.519T>C (p.Phe173=) | ClinVar |
X | g.135998493T>G | CA414749907 | SLC9A6 | c.615T>G (p.Phe205Leu) c.459T>G (p.Phe153Leu) c.363T>G (p.Phe121Leu) n.402T>G c.402T>G (p.Phe134Leu) n.400T>G c.519T>G (p.Phe173Leu) | |
X | g.135998494C>A | CA518743568 | SLC9A6 | c.616C>A (p.Arg206=) c.460C>A (p.Arg154=) c.364C>A (p.Arg122=) n.403C>A c.403C>A (p.Arg135=) n.401C>A c.520C>A (p.Arg174=) | gnomAD v4 |
X | g.135998494C>G | CA414749908 | SLC9A6 | c.616C>G (p.Arg206Gly) c.460C>G (p.Arg154Gly) c.364C>G (p.Arg122Gly) n.403C>G c.403C>G (p.Arg135Gly) n.401C>G c.520C>G (p.Arg174Gly) | dbSNP gnomAD v4 |
X | g.135998494C>T | CA414749909 | SLC9A6 | c.616C>T (p.Arg206Ter) c.460C>T (p.Arg154Ter) c.364C>T (p.Arg122Ter) n.403C>T c.403C>T (p.Arg135Ter) n.401C>T c.520C>T (p.Arg174Ter) | gnomAD v3 gnomAD v4 |
X | g.135998495G>A | CA10524677 | SLC9A6 | c.617G>A (p.Arg206Gln) c.461G>A (p.Arg154Gln) c.365G>A (p.Arg122Gln) n.404G>A c.404G>A (p.Arg135Gln) n.402G>A c.521G>A (p.Arg174Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135998495G>C | CA414749911 | SLC9A6 | c.617G>C (p.Arg206Pro) c.461G>C (p.Arg154Pro) c.365G>C (p.Arg122Pro) n.404G>C c.404G>C (p.Arg135Pro) n.402G>C c.521G>C (p.Arg174Pro) | gnomAD v4 |
X | g.135998495G= | CA2460189931 | SLC9A6 | c.617G= (p.Arg206=) c.461G= (p.Arg154=) c.365G= (p.Arg122=) n.404G= c.404G= (p.Arg135=) n.402G= c.521G= (p.Arg174=) | |
X | g.135998495G>T | CA414749910 | SLC9A6 | c.617G>T (p.Arg206Leu) c.461G>T (p.Arg154Leu) c.365G>T (p.Arg122Leu) n.404G>T c.404G>T (p.Arg135Leu) n.402G>T c.521G>T (p.Arg174Leu) | gnomAD v3 gnomAD v4 |
X | g.135998496A>C | CA518743595 | SLC9A6 | c.618A>C (p.Arg206=) c.462A>C (p.Arg154=) c.366A>C (p.Arg122=) n.405A>C c.405A>C (p.Arg135=) n.403A>C c.522A>C (p.Arg174=) | gnomAD v4 |
X | g.135998496A>G | CA518743604 | SLC9A6 | c.618A>G (p.Arg206=) c.462A>G (p.Arg154=) c.366A>G (p.Arg122=) n.405A>G c.405A>G (p.Arg135=) n.403A>G c.522A>G (p.Arg174=) | gnomAD v4 |
X | g.135998496A>T | CA518743600 | SLC9A6 | c.618A>T (p.Arg206=) c.462A>T (p.Arg154=) c.366A>T (p.Arg122=) n.405A>T c.405A>T (p.Arg135=) n.403A>T c.522A>T (p.Arg174=) | |
X | g.135998497A>C | CA414749912 | SLC9A6 | c.619A>C (p.Asn207His) c.463A>C (p.Asn155His) c.367A>C (p.Asn123His) n.406A>C c.406A>C (p.Asn136His) n.404A>C c.523A>C (p.Asn175His) | |
X | g.135998497A>G | CA414749914 | SLC9A6 | c.619A>G (p.Asn207Asp) c.463A>G (p.Asn155Asp) c.367A>G (p.Asn123Asp) n.406A>G c.406A>G (p.Asn136Asp) n.404A>G c.523A>G (p.Asn175Asp) | gnomAD v4 |
X | g.135998497A>T | CA414749913 | SLC9A6 | c.619A>T (p.Asn207Tyr) c.463A>T (p.Asn155Tyr) c.367A>T (p.Asn123Tyr) n.406A>T c.406A>T (p.Asn136Tyr) n.404A>T c.523A>T (p.Asn175Tyr) | |
X | g.135998498A>C | CA414749915 | SLC9A6 | c.620A>C (p.Asn207Thr) c.464A>C (p.Asn155Thr) c.368A>C (p.Asn123Thr) n.407A>C c.407A>C (p.Asn136Thr) n.405A>C c.524A>C (p.Asn175Thr) | |
X | g.135998498A>G | CA414749916 | SLC9A6 | c.620A>G (p.Asn207Ser) c.464A>G (p.Asn155Ser) c.368A>G (p.Asn123Ser) n.407A>G c.407A>G (p.Asn136Ser) n.405A>G c.524A>G (p.Asn175Ser) | |
X | g.135998498A>T | CA414749917 | SLC9A6 | c.620A>T (p.Asn207Ile) c.464A>T (p.Asn155Ile) c.368A>T (p.Asn123Ile) n.407A>T c.407A>T (p.Asn136Ile) n.405A>T c.524A>T (p.Asn175Ile) | |
X | g.135998498_135998499delinsAT | CA2460189932 | SLC9A6 | c.620_621delinsAT (p.Asn207=) c.464_465delinsAT (p.Asn155=) c.368_369delinsAT (p.Asn123=) n.407_408delinsAT c.407_408delinsAT (p.Asn136=) n.405_406delinsAT c.524_525delinsAT (p.Asn175=) | |
X | g.135998499del | CA1139667810 | SLC9A6 | c.621del (p.Ser210LeufsTer3) c.465del (p.Ser158LeufsTer3) c.369del (p.Ser126LeufsTer3) n.408del c.408del (p.Ser139LeufsTer3) n.406del c.525del (p.Ser178LeufsTer3) | ClinVar dbSNP |
X | g.135998499T>A | CA414749918 | SLC9A6 | c.621T>A (p.Asn207Lys) c.465T>A (p.Asn155Lys) c.369T>A (p.Asn123Lys) n.408T>A c.408T>A (p.Asn136Lys) n.406T>A c.525T>A (p.Asn175Lys) | |
X | g.135998499T>C | CA518743635 | SLC9A6 | c.621T>C (p.Asn207=) c.465T>C (p.Asn155=) c.369T>C (p.Asn123=) n.408T>C c.408T>C (p.Asn136=) n.406T>C c.525T>C (p.Asn175=) | gnomAD v4 |
X | g.135998499T>G | CA414749919 | SLC9A6 | c.621T>G (p.Asn207Lys) c.465T>G (p.Asn155Lys) c.369T>G (p.Asn123Lys) n.408T>G c.408T>G (p.Asn136Lys) n.406T>G c.525T>G (p.Asn175Lys) | |
X | g.135998500C>A | CA414749920 | SLC9A6 | c.622C>A (p.Leu208Ile) c.466C>A (p.Leu156Ile) c.370C>A (p.Leu124Ile) n.409C>A c.409C>A (p.Leu137Ile) n.407C>A c.526C>A (p.Leu176Ile) | gnomAD v4 |
X | g.135998500C>G | CA414749921 | SLC9A6 | c.622C>G (p.Leu208Val) c.466C>G (p.Leu156Val) c.370C>G (p.Leu124Val) n.409C>G c.409C>G (p.Leu137Val) n.407C>G c.526C>G (p.Leu176Val) | dbSNP |
X | g.135998500C>T | CA414749922 | SLC9A6 | c.622C>T (p.Leu208Phe) c.466C>T (p.Leu156Phe) c.370C>T (p.Leu124Phe) n.409C>T c.409C>T (p.Leu137Phe) n.407C>T c.526C>T (p.Leu176Phe) | gnomAD v3 gnomAD v4 |
X | g.135998501T>A | CA414749923 | SLC9A6 | c.623T>A (p.Leu208His) c.467T>A (p.Leu156His) c.371T>A (p.Leu124His) n.410T>A c.410T>A (p.Leu137His) n.408T>A c.527T>A (p.Leu176His) | |
X | g.135998501T>C | CA414749924 | SLC9A6 | c.623T>C (p.Leu208Pro) c.467T>C (p.Leu156Pro) c.371T>C (p.Leu124Pro) n.410T>C c.410T>C (p.Leu137Pro) n.408T>C c.527T>C (p.Leu176Pro) | |
X | g.135998501T>G | CA414749925 | SLC9A6 | c.623T>G (p.Leu208Arg) c.467T>G (p.Leu156Arg) c.371T>G (p.Leu124Arg) n.410T>G c.410T>G (p.Leu137Arg) n.408T>G c.527T>G (p.Leu176Arg) | |
X | g.135998501_135998502insAAAAAGGA | CA2503392470 | SLC9A6 | c.623_624insAAAAAGGA (p.Gly209LysfsTer7) c.467_468insAAAAAGGA (p.Gly157LysfsTer7) c.371_372insAAAAAGGA (p.Gly125LysfsTer7) n.410_411insAAAAAGGA c.410_411insAAAAAGGA (p.Gly138LysfsTer7) n.408_409insAAAAAGGA c.527_528insAAAAAGGA (p.Gly177LysfsTer7) | |
X | g.135998502T>A | CA518743682 | SLC9A6 | c.624T>A (p.Leu208=) c.468T>A (p.Leu156=) c.372T>A (p.Leu124=) n.411T>A c.411T>A (p.Leu137=) n.409T>A c.528T>A (p.Leu176=) | |
X | g.135998502T>C | CA518743684 | SLC9A6 | c.624T>C (p.Leu208=) c.468T>C (p.Leu156=) c.372T>C (p.Leu124=) n.411T>C c.411T>C (p.Leu137=) n.409T>C c.528T>C (p.Leu176=) | |
X | g.135998502T>G | CA518743689 | SLC9A6 | c.624T>G (p.Leu208=) c.468T>G (p.Leu156=) c.372T>G (p.Leu124=) n.411T>G c.411T>G (p.Leu137=) n.409T>G c.528T>G (p.Leu176=) | |
X | g.135998502_135998503insAAGGAGAGGAGAAAGGA | CA2571080896 | SLC9A6 | c.624_625insAAGGAGAGGAGAAAGGA (p.Gly209LysfsTer10) c.468_469insAAGGAGAGGAGAAAGGA (p.Gly157LysfsTer10) c.372_373insAAGGAGAGGAGAAAGGA (p.Gly125LysfsTer10) n.411_412insAAGGAGAGGAGAAAGGA c.411_412insAAGGAGAGGAGAAAGGA (p.Gly138LysfsTer10) n.409_410insAAGGAGAGGAGAAAGGA c.528_529insAAGGAGAGGAGAAAGGA (p.Gly177LysfsTer10) | |
X | g.135998503G>A | CA414749928 | SLC9A6 | c.625G>A (p.Gly209Arg) c.469G>A (p.Gly157Arg) c.373G>A (p.Gly125Arg) n.412G>A c.412G>A (p.Gly138Arg) n.410G>A c.529G>A (p.Gly177Arg) | gnomAD v4 |
X | g.135998503G>C | CA414749926 | SLC9A6 | c.625G>C (p.Gly209Arg) c.469G>C (p.Gly157Arg) c.373G>C (p.Gly125Arg) n.412G>C c.412G>C (p.Gly138Arg) n.410G>C c.529G>C (p.Gly177Arg) | gnomAD v4 |
X | g.135998503G>T | CA414749927 | SLC9A6 | c.625G>T (p.Gly209Trp) c.469G>T (p.Gly157Trp) c.373G>T (p.Gly125Trp) n.412G>T c.412G>T (p.Gly138Trp) n.410G>T c.529G>T (p.Gly177Trp) | gnomAD v3 gnomAD v4 |
X | g.135998505del | CA2694793705 | SLC9A6 | c.627del (p.Ser210LeufsTer3) c.471del (p.Ser158LeufsTer3) c.375del (p.Ser126LeufsTer3) n.414del c.414del (p.Ser139LeufsTer3) n.412del c.531del (p.Ser178LeufsTer3) | gnomAD v4 |
X | g.135998504G>A | CA414749929 | SLC9A6 | c.626G>A (p.Gly209Glu) c.470G>A (p.Gly157Glu) c.374G>A (p.Gly125Glu) n.413G>A c.413G>A (p.Gly138Glu) n.411G>A c.530G>A (p.Gly177Glu) | gnomAD v4 |
X | g.135998504G>C | CA414749930 | SLC9A6 | c.626G>C (p.Gly209Ala) c.470G>C (p.Gly157Ala) c.374G>C (p.Gly125Ala) n.413G>C c.413G>C (p.Gly138Ala) n.411G>C c.530G>C (p.Gly177Ala) | |
X | g.135998504G>T | CA414749931 | SLC9A6 | c.626G>T (p.Gly209Val) c.470G>T (p.Gly157Val) c.374G>T (p.Gly125Val) n.413G>T c.413G>T (p.Gly138Val) n.411G>T c.530G>T (p.Gly177Val) | gnomAD v3 gnomAD v4 |
X | g.135998505G>A | CA518743713 | SLC9A6 | c.627G>A (p.Gly209=) c.471G>A (p.Gly157=) c.375G>A (p.Gly125=) n.414G>A c.414G>A (p.Gly138=) n.412G>A c.531G>A (p.Gly177=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.135998505G>C | CA518743714 | SLC9A6 | c.627G>C (p.Gly209=) c.471G>C (p.Gly157=) c.375G>C (p.Gly125=) n.414G>C c.414G>C (p.Gly138=) n.412G>C c.531G>C (p.Gly177=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135998505G= | CA2460189933 | SLC9A6 | c.627G= (p.Gly209=) c.471G= (p.Gly157=) c.375G= (p.Gly125=) n.414G= c.414G= (p.Gly138=) n.412G= c.531G= (p.Gly177=) | |
X | g.135998505G>T | CA518743715 | SLC9A6 | c.627G>T (p.Gly209=) c.471G>T (p.Gly157=) c.375G>T (p.Gly125=) n.414G>T c.414G>T (p.Gly138=) n.412G>T c.531G>T (p.Gly177=) | ClinVar dbSNP gnomAD v4 |
X | g.135998506T>A | CA414749932 | SLC9A6 | c.628T>A (p.Ser210Thr) c.472T>A (p.Ser158Thr) c.376T>A (p.Ser126Thr) n.415T>A c.415T>A (p.Ser139Thr) n.413T>A c.532T>A (p.Ser178Thr) | |
X | g.135998506T>C | CA414749933 | SLC9A6 | c.628T>C (p.Ser210Pro) c.472T>C (p.Ser158Pro) c.376T>C (p.Ser126Pro) n.415T>C c.415T>C (p.Ser139Pro) n.413T>C c.532T>C (p.Ser178Pro) | gnomAD v4 |
X | g.135998506T>G | CA414749934 | SLC9A6 | c.628T>G (p.Ser210Ala) c.472T>G (p.Ser158Ala) c.376T>G (p.Ser126Ala) n.415T>G c.415T>G (p.Ser139Ala) n.413T>G c.532T>G (p.Ser178Ala) | |
X | g.135998507C>A | CA414749935 | SLC9A6 | c.629C>A (p.Ser210Tyr) c.473C>A (p.Ser158Tyr) c.377C>A (p.Ser126Tyr) n.416C>A c.416C>A (p.Ser139Tyr) n.414C>A c.533C>A (p.Ser178Tyr) | dbSNP gnomAD v4 |
X | g.135998507C>G | CA414749936 | SLC9A6 | c.629C>G (p.Ser210Cys) c.473C>G (p.Ser158Cys) c.377C>G (p.Ser126Cys) n.416C>G c.416C>G (p.Ser139Cys) n.414C>G c.533C>G (p.Ser178Cys) | |
X | g.135998507C>T | CA414749937 | SLC9A6 | c.629C>T (p.Ser210Phe) c.473C>T (p.Ser158Phe) c.377C>T (p.Ser126Phe) n.416C>T c.416C>T (p.Ser139Phe) n.414C>T c.533C>T (p.Ser178Phe) | gnomAD v3 gnomAD v4 |
X | g.135998508T>A | CA518743738 | SLC9A6 | c.630T>A (p.Ser210=) c.474T>A (p.Ser158=) c.378T>A (p.Ser126=) n.417T>A c.417T>A (p.Ser139=) n.415T>A c.534T>A (p.Ser178=) | |
X | g.135998508T>C | CA293611 | SLC9A6 | c.630T>C (p.Ser210=) c.474T>C (p.Ser158=) c.378T>C (p.Ser126=) n.417T>C c.417T>C (p.Ser139=) n.415T>C c.534T>C (p.Ser178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998508T>G | CA518743744 | SLC9A6 | c.630T>G (p.Ser210=) c.474T>G (p.Ser158=) c.378T>G (p.Ser126=) n.417T>G c.417T>G (p.Ser139=) n.415T>G c.534T>G (p.Ser178=) | |
X | g.135998508T= | CA2460189934 | SLC9A6 | c.630T= (p.Ser210=) c.474T= (p.Ser158=) c.378T= (p.Ser126=) n.417T= c.417T= (p.Ser139=) n.415T= c.534T= (p.Ser178=) | |
X | g.135998509A= | CA2460189935 | SLC9A6 | c.631A= (p.Ile211=) c.475A= (p.Ile159=) c.379A= (p.Ile127=) n.418A= c.418A= (p.Ile140=) n.416A= c.535A= (p.Ile179=) | |
X | g.135998509A>C | CA414749939 | SLC9A6 | c.631A>C (p.Ile211Leu) c.475A>C (p.Ile159Leu) c.379A>C (p.Ile127Leu) n.418A>C c.418A>C (p.Ile140Leu) n.416A>C c.535A>C (p.Ile179Leu) | |
X | g.135998509A>G | CA414749940 | SLC9A6 | c.631A>G (p.Ile211Val) c.475A>G (p.Ile159Val) c.379A>G (p.Ile127Val) n.418A>G c.418A>G (p.Ile140Val) n.416A>G c.535A>G (p.Ile179Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.135998509A>T | CA414749938 | SLC9A6 | c.631A>T (p.Ile211Phe) c.475A>T (p.Ile159Phe) c.379A>T (p.Ile127Phe) n.418A>T c.418A>T (p.Ile140Phe) n.416A>T c.535A>T (p.Ile179Phe) | gnomAD v3 gnomAD v4 |
X | g.135998510T>A | CA414749941 | SLC9A6 | c.632T>A (p.Ile211Asn) c.476T>A (p.Ile159Asn) c.380T>A (p.Ile127Asn) n.419T>A c.419T>A (p.Ile140Asn) n.417T>A c.536T>A (p.Ile179Asn) | |
X | g.135998510T>C | CA414749942 | SLC9A6 | c.632T>C (p.Ile211Thr) c.476T>C (p.Ile159Thr) c.380T>C (p.Ile127Thr) n.419T>C c.419T>C (p.Ile140Thr) n.417T>C c.536T>C (p.Ile179Thr) | |
X | g.135998510T>G | CA414749943 | SLC9A6 | c.632T>G (p.Ile211Ser) c.476T>G (p.Ile159Ser) c.380T>G (p.Ile127Ser) n.419T>G c.419T>G (p.Ile140Ser) n.417T>G c.536T>G (p.Ile179Ser) | dbSNP |
X | g.135998510T= | CA2460189936 | SLC9A6 | c.632T= (p.Ile211=) c.476T= (p.Ile159=) c.380T= (p.Ile127=) n.419T= c.419T= (p.Ile140=) n.417T= c.536T= (p.Ile179=) | |
X | g.135998511C>A | CA518743762 | SLC9A6 | c.633C>A (p.Ile211=) c.477C>A (p.Ile159=) c.381C>A (p.Ile127=) n.420C>A c.420C>A (p.Ile140=) n.418C>A c.537C>A (p.Ile179=) | gnomAD v4 |
X | g.135998511C>G | CA414749944 | SLC9A6 | c.633C>G (p.Ile211Met) c.477C>G (p.Ile159Met) c.381C>G (p.Ile127Met) n.420C>G c.420C>G (p.Ile140Met) n.418C>G c.537C>G (p.Ile179Met) | |
X | g.135998511C>T | CA518743772 | SLC9A6 | c.633C>T (p.Ile211=) c.477C>T (p.Ile159=) c.381C>T (p.Ile127=) n.420C>T c.420C>T (p.Ile140=) n.418C>T c.537C>T (p.Ile179=) | |
X | g.135998512C>A | CA414749945 | SLC9A6 | c.634C>A (p.Leu212Ile) c.478C>A (p.Leu160Ile) c.382C>A (p.Leu128Ile) n.421C>A c.421C>A (p.Leu141Ile) n.419C>A c.538C>A (p.Leu180Ile) | gnomAD v4 |
X | g.135998512C= | CA2460189937 | SLC9A6 | c.634C= (p.Leu212=) c.478C= (p.Leu160=) c.382C= (p.Leu128=) n.421C= c.421C= (p.Leu141=) n.419C= c.538C= (p.Leu180=) | |
X | g.135998512C>G | CA414749946 | SLC9A6 | c.634C>G (p.Leu212Val) c.478C>G (p.Leu160Val) c.382C>G (p.Leu128Val) n.421C>G c.421C>G (p.Leu141Val) n.419C>G c.538C>G (p.Leu180Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.135998512C>T | CA518743783 | SLC9A6 | c.634C>T (p.Leu212=) c.478C>T (p.Leu160=) c.382C>T (p.Leu128=) n.421C>T c.421C>T (p.Leu141=) n.419C>T c.538C>T (p.Leu180=) | |
X | g.135998513T>A | CA414749947 | SLC9A6 | c.635T>A (p.Leu212Gln) c.479T>A (p.Leu160Gln) c.383T>A (p.Leu128Gln) n.422T>A c.422T>A (p.Leu141Gln) n.420T>A c.539T>A (p.Leu180Gln) | |
X | g.135998513T>C | CA414749948 | SLC9A6 | c.635T>C (p.Leu212Pro) c.479T>C (p.Leu160Pro) c.383T>C (p.Leu128Pro) n.422T>C c.422T>C (p.Leu141Pro) n.420T>C c.539T>C (p.Leu180Pro) | |
X | g.135998513T>G | CA414749949 | SLC9A6 | c.635T>G (p.Leu212Arg) c.479T>G (p.Leu160Arg) c.383T>G (p.Leu128Arg) n.422T>G c.422T>G (p.Leu141Arg) n.420T>G c.539T>G (p.Leu180Arg) | |
X | g.135998514A= | CA2460189938 | SLC9A6 | c.636A= (p.Leu212=) c.480A= (p.Leu160=) c.384A= (p.Leu128=) n.423A= c.423A= (p.Leu141=) n.421A= c.540A= (p.Leu180=) | |
X | g.135998514A>C | CA518743802 | SLC9A6 | c.636A>C (p.Leu212=) c.480A>C (p.Leu160=) c.384A>C (p.Leu128=) n.423A>C c.423A>C (p.Leu141=) n.421A>C c.540A>C (p.Leu180=) | |
X | g.135998514A>G | CA518743805 | SLC9A6 | c.636A>G (p.Leu212=) c.480A>G (p.Leu160=) c.384A>G (p.Leu128=) n.423A>G c.423A>G (p.Leu141=) n.421A>G c.540A>G (p.Leu180=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135998514A>T | CA518743809 | SLC9A6 | c.636A>T (p.Leu212=) c.480A>T (p.Leu160=) c.384A>T (p.Leu128=) n.423A>T c.423A>T (p.Leu141=) n.421A>T c.540A>T (p.Leu180=) | |
X | g.135998515G>A | CA414749950 | SLC9A6 | c.637G>A (p.Ala213Thr) c.481G>A (p.Ala161Thr) c.385G>A (p.Ala129Thr) n.424G>A c.424G>A (p.Ala142Thr) n.422G>A c.541G>A (p.Ala181Thr) | |
X | g.135998515G>C | CA414749951 | SLC9A6 | c.637G>C (p.Ala213Pro) c.481G>C (p.Ala161Pro) c.385G>C (p.Ala129Pro) n.424G>C c.424G>C (p.Ala142Pro) n.422G>C c.541G>C (p.Ala181Pro) | |
X | g.135998515G>T | CA414749952 | SLC9A6 | c.637G>T (p.Ala213Ser) c.481G>T (p.Ala161Ser) c.385G>T (p.Ala129Ser) n.424G>T c.424G>T (p.Ala142Ser) n.422G>T c.541G>T (p.Ala181Ser) | ClinVar gnomAD v3 gnomAD v4 |
X | g.135998516C>A | CA414749954 | SLC9A6 | c.638C>A (p.Ala213Glu) c.482C>A (p.Ala161Glu) c.386C>A (p.Ala129Glu) n.425C>A c.425C>A (p.Ala142Glu) n.423C>A c.542C>A (p.Ala181Glu) | |
X | g.135998516C>G | CA414749955 | SLC9A6 | c.638C>G (p.Ala213Gly) c.482C>G (p.Ala161Gly) c.386C>G (p.Ala129Gly) n.425C>G c.425C>G (p.Ala142Gly) n.423C>G c.542C>G (p.Ala181Gly) | |
X | g.135998516C>T | CA414749953 | SLC9A6 | c.638C>T (p.Ala213Val) c.482C>T (p.Ala161Val) c.386C>T (p.Ala129Val) n.425C>T c.425C>T (p.Ala142Val) n.423C>T c.542C>T (p.Ala181Val) | gnomAD v4 |
X | g.135998517A= | CA2460189939 | SLC9A6 | c.639A= (p.Ala213=) c.483A= (p.Ala161=) c.387A= (p.Ala129=) n.426A= c.426A= (p.Ala142=) n.424A= c.543A= (p.Ala181=) | |
X | g.135998517A>C | CA518743839 | SLC9A6 | c.639A>C (p.Ala213=) c.483A>C (p.Ala161=) c.387A>C (p.Ala129=) n.426A>C c.426A>C (p.Ala142=) n.424A>C c.543A>C (p.Ala181=) | |
X | g.135998517A>G | CA10524678 | SLC9A6 | c.639A>G (p.Ala213=) c.483A>G (p.Ala161=) c.387A>G (p.Ala129=) n.426A>G c.426A>G (p.Ala142=) n.424A>G c.543A>G (p.Ala181=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998517A>T | CA518743847 | SLC9A6 | c.639A>T (p.Ala213=) c.483A>T (p.Ala161=) c.387A>T (p.Ala129=) n.426A>T c.426A>T (p.Ala142=) n.424A>T c.543A>T (p.Ala181=) | |
X | g.135998518T>A | CA414749956 | SLC9A6 | c.640T>A (p.Tyr214Asn) c.484T>A (p.Tyr162Asn) c.388T>A (p.Tyr130Asn) n.427T>A c.427T>A (p.Tyr143Asn) n.425T>A c.544T>A (p.Tyr182Asn) | |
X | g.135998518T>C | CA414749957 | SLC9A6 | c.640T>C (p.Tyr214His) c.484T>C (p.Tyr162His) c.388T>C (p.Tyr130His) n.427T>C c.427T>C (p.Tyr143His) n.425T>C c.544T>C (p.Tyr182His) | |
X | g.135998518T>G | CA414749958 | SLC9A6 | c.640T>G (p.Tyr214Asp) c.484T>G (p.Tyr162Asp) c.388T>G (p.Tyr130Asp) n.427T>G c.427T>G (p.Tyr143Asp) n.425T>G c.544T>G (p.Tyr182Asp) | |
X | g.135998519A>C | CA414749961 | SLC9A6 | c.641A>C (p.Tyr214Ser) c.485A>C (p.Tyr162Ser) c.389A>C (p.Tyr130Ser) n.428A>C c.428A>C (p.Tyr143Ser) n.426A>C c.545A>C (p.Tyr182Ser) | |
X | g.135998519A>G | CA414749960 | SLC9A6 | c.641A>G (p.Tyr214Cys) c.485A>G (p.Tyr162Cys) c.389A>G (p.Tyr130Cys) n.428A>G c.428A>G (p.Tyr143Cys) n.426A>G c.545A>G (p.Tyr182Cys) | |
X | g.135998519A>T | CA414749959 | SLC9A6 | c.641A>T (p.Tyr214Phe) c.485A>T (p.Tyr162Phe) c.389A>T (p.Tyr130Phe) n.428A>T c.428A>T (p.Tyr143Phe) n.426A>T c.545A>T (p.Tyr182Phe) | |
X | g.135998520C>A | CA414749962 | SLC9A6 | c.642C>A (p.Tyr214Ter) c.486C>A (p.Tyr162Ter) c.390C>A (p.Tyr130Ter) n.429C>A c.429C>A (p.Tyr143Ter) n.427C>A c.546C>A (p.Tyr182Ter) | |
X | g.135998520C= | CA2460189940 | SLC9A6 | c.642C= (p.Tyr214=) c.486C= (p.Tyr162=) c.390C= (p.Tyr130=) n.429C= c.429C= (p.Tyr143=) n.427C= c.546C= (p.Tyr182=) | |
X | g.135998520C>G | CA414749963 | SLC9A6 | c.642C>G (p.Tyr214Ter) c.486C>G (p.Tyr162Ter) c.390C>G (p.Tyr130Ter) n.429C>G c.429C>G (p.Tyr143Ter) n.427C>G c.546C>G (p.Tyr182Ter) | |
X | g.135998520C>T | CA10524679 | SLC9A6 | c.642C>T (p.Tyr214=) c.486C>T (p.Tyr162=) c.390C>T (p.Tyr130=) n.429C>T c.429C>T (p.Tyr143=) n.427C>T c.546C>T (p.Tyr182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.135998521G>A | CA318518 | SLC9A6 | c.643G>A (p.Ala215Thr) c.487G>A (p.Ala163Thr) c.391G>A (p.Ala131Thr) n.430G>A c.430G>A (p.Ala144Thr) n.428G>A c.547G>A (p.Ala183Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.135998521G>C | CA414749964 | SLC9A6 | c.643G>C (p.Ala215Pro) c.487G>C (p.Ala163Pro) c.391G>C (p.Ala131Pro) n.430G>C c.430G>C (p.Ala144Pro) n.428G>C c.547G>C (p.Ala183Pro) | |
X | g.135998521G= | CA2460189941 | SLC9A6 | c.643G= (p.Ala215=) c.487G= (p.Ala163=) c.391G= (p.Ala131=) n.430G= c.430G= (p.Ala144=) n.428G= c.547G= (p.Ala183=) | |
X | g.135998521G>T | CA414749965 | SLC9A6 | c.643G>T (p.Ala215Ser) c.487G>T (p.Ala163Ser) c.391G>T (p.Ala131Ser) n.430G>T c.430G>T (p.Ala144Ser) n.428G>T c.547G>T (p.Ala183Ser) | |
X | g.135998522C>A | CA414749968 | SLC9A6 | c.644C>A (p.Ala215Asp) c.488C>A (p.Ala163Asp) c.392C>A (p.Ala131Asp) n.431C>A c.431C>A (p.Ala144Asp) n.429C>A c.548C>A (p.Ala183Asp) | gnomAD v4 |
X | g.135998522C>G | CA414749967 | SLC9A6 | c.644C>G (p.Ala215Gly) c.488C>G (p.Ala163Gly) c.392C>G (p.Ala131Gly) n.431C>G c.431C>G (p.Ala144Gly) n.429C>G c.548C>G (p.Ala183Gly) | |
X | g.135998522C>T | CA414749966 | SLC9A6 | c.644C>T (p.Ala215Val) c.488C>T (p.Ala163Val) c.392C>T (p.Ala131Val) n.431C>T c.431C>T (p.Ala144Val) n.429C>T c.548C>T (p.Ala183Val) | |
X | g.135998523T>A | CA518743913 | SLC9A6 | c.645T>A (p.Ala215=) c.489T>A (p.Ala163=) c.393T>A (p.Ala131=) n.432T>A c.432T>A (p.Ala144=) n.430T>A c.549T>A (p.Ala183=) | gnomAD v4 |
X | g.135998523T>C | CA518743918 | SLC9A6 | c.645T>C (p.Ala215=) c.489T>C (p.Ala163=) c.393T>C (p.Ala131=) n.432T>C c.432T>C (p.Ala144=) n.430T>C c.549T>C (p.Ala183=) | |
X | g.135998523T>G | CA518743923 | SLC9A6 | c.645T>G (p.Ala215=) c.489T>G (p.Ala163=) c.393T>G (p.Ala131=) n.432T>G c.432T>G (p.Ala144=) n.430T>G c.549T>G (p.Ala183=) | |
X | g.135998524T>A | CA414749969 | SLC9A6 | c.646T>A (p.Phe216Ile) c.490T>A (p.Phe164Ile) c.394T>A (p.Phe132Ile) n.433T>A c.433T>A (p.Phe145Ile) n.431T>A c.550T>A (p.Phe184Ile) | |
X | g.135998524T>C | CA414749971 | SLC9A6 | c.646T>C (p.Phe216Leu) c.490T>C (p.Phe164Leu) c.394T>C (p.Phe132Leu) n.433T>C c.433T>C (p.Phe145Leu) n.431T>C c.550T>C (p.Phe184Leu) | |
X | g.135998524T>G | CA414749970 | SLC9A6 | c.646T>G (p.Phe216Val) c.490T>G (p.Phe164Val) c.394T>G (p.Phe132Val) n.433T>G c.433T>G (p.Phe145Val) n.431T>G c.550T>G (p.Phe184Val) | |
X | g.135998525T>A | CA414749972 | SLC9A6 | c.647T>A (p.Phe216Tyr) c.491T>A (p.Phe164Tyr) c.395T>A (p.Phe132Tyr) n.434T>A c.434T>A (p.Phe145Tyr) n.432T>A c.551T>A (p.Phe184Tyr) | |
X | g.135998525T>C | CA414749974 | SLC9A6 | c.647T>C (p.Phe216Ser) c.491T>C (p.Phe164Ser) c.395T>C (p.Phe132Ser) n.434T>C c.434T>C (p.Phe145Ser) n.432T>C c.551T>C (p.Phe184Ser) | |
X | g.135998525T>G | CA414749976 | SLC9A6 | c.647T>G (p.Phe216Cys) c.491T>G (p.Phe164Cys) c.395T>G (p.Phe132Cys) n.434T>G c.434T>G (p.Phe145Cys) n.432T>G c.551T>G (p.Phe184Cys) | |
X | g.135998526T>A | CA414749977 | SLC9A6 | c.648T>A (p.Phe216Leu) c.492T>A (p.Phe164Leu) c.396T>A (p.Phe132Leu) n.435T>A c.435T>A (p.Phe145Leu) n.433T>A c.552T>A (p.Phe184Leu) | |
X | g.135998526T>C | CA518743957 | SLC9A6 | c.648T>C (p.Phe216=) c.492T>C (p.Phe164=) c.396T>C (p.Phe132=) n.435T>C c.435T>C (p.Phe145=) n.433T>C c.552T>C (p.Phe184=) | ClinVar gnomAD v4 |
X | g.135998526T>G | CA414749978 | SLC9A6 | c.648T>G (p.Phe216Leu) c.492T>G (p.Phe164Leu) c.396T>G (p.Phe132Leu) n.435T>G c.435T>G (p.Phe145Leu) n.433T>G c.552T>G (p.Phe184Leu) | |
X | g.135998527C>A | CA414749979 | SLC9A6 | c.649C>A (p.Leu217Ile) c.493C>A (p.Leu165Ile) c.397C>A (p.Leu133Ile) n.436C>A c.436C>A (p.Leu146Ile) n.434C>A c.553C>A (p.Leu185Ile) | |
X | g.135998527C= | CA2460189942 | SLC9A6 | c.649C= (p.Leu217=) c.493C= (p.Leu165=) c.397C= (p.Leu133=) n.436C= c.436C= (p.Leu146=) n.434C= c.553C= (p.Leu185=) | |
X | g.135998527C>G | CA414749980 | SLC9A6 | c.649C>G (p.Leu217Val) c.493C>G (p.Leu165Val) c.397C>G (p.Leu133Val) n.436C>G c.436C>G (p.Leu146Val) n.434C>G c.553C>G (p.Leu185Val) | |
X | g.135998527C>T | CA10524680 | SLC9A6 | c.649C>T (p.Leu217Phe) c.493C>T (p.Leu165Phe) c.397C>T (p.Leu133Phe) n.436C>T c.436C>T (p.Leu146Phe) n.434C>T c.553C>T (p.Leu185Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135998528T>A | CA414749981 | SLC9A6 | c.650T>A (p.Leu217His) c.494T>A (p.Leu165His) c.398T>A (p.Leu133His) n.437T>A c.437T>A (p.Leu146His) n.435T>A c.554T>A (p.Leu185His) | |
X | g.135998528T>C | CA414749982 | SLC9A6 | c.650T>C (p.Leu217Pro) c.494T>C (p.Leu165Pro) c.398T>C (p.Leu133Pro) n.437T>C c.437T>C (p.Leu146Pro) n.435T>C c.554T>C (p.Leu185Pro) | |
X | g.135998528T>G | CA414749983 | SLC9A6 | c.650T>G (p.Leu217Arg) c.494T>G (p.Leu165Arg) c.398T>G (p.Leu133Arg) n.437T>G c.437T>G (p.Leu146Arg) n.435T>G c.554T>G (p.Leu185Arg) | |
X | g.135998529del | CA2579709677 | SLC9A6 | c.651del (p.Gly218GlufsTer12) c.495del (p.Gly166GlufsTer12) c.399del (p.Gly134GlufsTer12) n.438del c.438del (p.Gly147GlufsTer12) n.436del c.555del (p.Gly186GlufsTer12) | |
X | g.135998529T>A | CA518743991 | SLC9A6 | c.651T>A (p.Leu217=) c.495T>A (p.Leu165=) c.399T>A (p.Leu133=) n.438T>A c.438T>A (p.Leu146=) n.436T>A c.555T>A (p.Leu185=) | |
X | g.135998529T>C | CA518743993 | SLC9A6 | c.651T>C (p.Leu217=) c.495T>C (p.Leu165=) c.399T>C (p.Leu133=) n.438T>C c.438T>C (p.Leu146=) n.436T>C c.555T>C (p.Leu185=) | gnomAD v4 |
X | g.135998529T>G | CA518743996 | SLC9A6 | c.651T>G (p.Leu217=) c.495T>G (p.Leu165=) c.399T>G (p.Leu133=) n.438T>G c.438T>G (p.Leu146=) n.436T>G c.555T>G (p.Leu185=) | |
X | g.135998530G>A | CA414749986 | SLC9A6 | c.652G>A (p.Gly218Arg) c.496G>A (p.Gly166Arg) c.400G>A (p.Gly134Arg) n.439G>A c.439G>A (p.Gly147Arg) n.437G>A c.556G>A (p.Gly186Arg) | |
X | g.135998530G>C | CA414749985 | SLC9A6 | c.652G>C (p.Gly218Arg) c.496G>C (p.Gly166Arg) c.400G>C (p.Gly134Arg) n.439G>C c.439G>C (p.Gly147Arg) n.437G>C c.556G>C (p.Gly186Arg) | |
X | g.135998530G>T | CA414749984 | SLC9A6 | c.652G>T (p.Gly218Ter) c.496G>T (p.Gly166Ter) c.400G>T (p.Gly134Ter) n.439G>T c.439G>T (p.Gly147Ter) n.437G>T c.556G>T (p.Gly186Ter) | |
X | g.135998531G>A | CA414749987 | SLC9A6 | c.653G>A (p.Gly218Glu) c.497G>A (p.Gly166Glu) c.401G>A (p.Gly134Glu) n.440G>A c.440G>A (p.Gly147Glu) n.438G>A c.557G>A (p.Gly186Glu) | gnomAD v4 |
X | g.135998531G>C | CA414749988 | SLC9A6 | c.653G>C (p.Gly218Ala) c.497G>C (p.Gly166Ala) c.401G>C (p.Gly134Ala) n.440G>C c.440G>C (p.Gly147Ala) n.438G>C c.557G>C (p.Gly186Ala) | |
X | g.135998531G>T | CA414749989 | SLC9A6 | c.653G>T (p.Gly218Val) c.497G>T (p.Gly166Val) c.401G>T (p.Gly134Val) n.440G>T c.440G>T (p.Gly147Val) n.438G>T c.557G>T (p.Gly186Val) | |
X | g.135998532A>C | CA518744012 | SLC9A6 | c.654A>C (p.Gly218=) c.498A>C (p.Gly166=) c.402A>C (p.Gly134=) n.441A>C c.441A>C (p.Gly147=) n.439A>C c.558A>C (p.Gly186=) | |
X | g.135998532A>G | CA518744016 | SLC9A6 | c.654A>G (p.Gly218=) c.498A>G (p.Gly166=) c.402A>G (p.Gly134=) n.441A>G c.441A>G (p.Gly147=) n.439A>G c.558A>G (p.Gly186=) | |
X | g.135998532A>T | CA518744030 | SLC9A6 | c.654A>T (p.Gly218=) c.498A>T (p.Gly166=) c.402A>T (p.Gly134=) n.441A>T c.441A>T (p.Gly147=) n.439A>T c.558A>T (p.Gly186=) | |
X | g.135998533A>C | CA414749990 | SLC9A6 | c.655A>C (p.Thr219Pro) c.499A>C (p.Thr167Pro) c.403A>C (p.Thr135Pro) n.442A>C c.442A>C (p.Thr148Pro) n.440A>C c.559A>C (p.Thr187Pro) | |
X | g.135998533A>G | CA414749991 | SLC9A6 | c.655A>G (p.Thr219Ala) c.499A>G (p.Thr167Ala) c.403A>G (p.Thr135Ala) n.442A>G c.442A>G (p.Thr148Ala) n.440A>G c.559A>G (p.Thr187Ala) | |
X | g.135998533A>T | CA414749992 | SLC9A6 | c.655A>T (p.Thr219Ser) c.499A>T (p.Thr167Ser) c.403A>T (p.Thr135Ser) n.442A>T c.442A>T (p.Thr148Ser) n.440A>T c.559A>T (p.Thr187Ser) | |
X | g.135998534C>A | CA414749993 | SLC9A6 | c.656C>A (p.Thr219Lys) c.500C>A (p.Thr167Lys) c.404C>A (p.Thr135Lys) n.443C>A c.443C>A (p.Thr148Lys) n.441C>A c.560C>A (p.Thr187Lys) | |
X | g.135998534C>G | CA414749994 | SLC9A6 | c.656C>G (p.Thr219Arg) c.500C>G (p.Thr167Arg) c.404C>G (p.Thr135Arg) n.443C>G c.443C>G (p.Thr148Arg) n.441C>G c.560C>G (p.Thr187Arg) | |
X | g.135998534C>T | CA414749995 | SLC9A6 | c.656C>T (p.Thr219Ile) c.500C>T (p.Thr167Ile) c.404C>T (p.Thr135Ile) n.443C>T c.443C>T (p.Thr148Ile) n.441C>T c.560C>T (p.Thr187Ile) | |
X | g.135998535A= | CA2460189943 | SLC9A6 | c.657A= (p.Thr219=) c.501A= (p.Thr167=) c.405A= (p.Thr135=) n.444A= c.444A= (p.Thr148=) n.442A= c.561A= (p.Thr187=) | |
X | g.135998535A>C | CA518744059 | SLC9A6 | c.657A>C (p.Thr219=) c.501A>C (p.Thr167=) c.405A>C (p.Thr135=) n.444A>C c.444A>C (p.Thr148=) n.442A>C c.561A>C (p.Thr187=) | |
X | g.135998535A>G | CA518744062 | SLC9A6 | c.657A>G (p.Thr219=) c.501A>G (p.Thr167=) c.405A>G (p.Thr135=) n.444A>G c.444A>G (p.Thr148=) n.442A>G c.561A>G (p.Thr187=) | dbSNP gnomAD v4 |
X | g.135998535A>T | CA518744066 | SLC9A6 | c.657A>T (p.Thr219=) c.501A>T (p.Thr167=) c.405A>T (p.Thr135=) n.444A>T c.444A>T (p.Thr148=) n.442A>T c.561A>T (p.Thr187=) | |
X | g.135998536G>A | CA414749996 | SLC9A6 | c.658G>A (p.Ala220Thr) c.502G>A (p.Ala168Thr) c.406G>A (p.Ala136Thr) n.445G>A c.445G>A (p.Ala149Thr) n.443G>A c.562G>A (p.Ala188Thr) | gnomAD v4 |
X | g.135998536G>C | CA414749997 | SLC9A6 | c.658G>C (p.Ala220Pro) c.502G>C (p.Ala168Pro) c.406G>C (p.Ala136Pro) n.445G>C c.445G>C (p.Ala149Pro) n.443G>C c.562G>C (p.Ala188Pro) | |
X | g.135998536G>T | CA414749998 | SLC9A6 | c.658G>T (p.Ala220Ser) c.502G>T (p.Ala168Ser) c.406G>T (p.Ala136Ser) n.445G>T c.445G>T (p.Ala149Ser) n.443G>T c.562G>T (p.Ala188Ser) | |
X | g.135998537C>A | CA414750001 | SLC9A6 | c.659C>A (p.Ala220Glu) c.503C>A (p.Ala168Glu) c.407C>A (p.Ala136Glu) n.446C>A c.446C>A (p.Ala149Glu) n.444C>A c.563C>A (p.Ala188Glu) | |
X | g.135998537C>G | CA414750000 | SLC9A6 | c.659C>G (p.Ala220Gly) c.503C>G (p.Ala168Gly) c.407C>G (p.Ala136Gly) n.446C>G c.446C>G (p.Ala149Gly) n.444C>G c.563C>G (p.Ala188Gly) | |
X | g.135998537C>T | CA414749999 | SLC9A6 | c.659C>T (p.Ala220Val) c.503C>T (p.Ala168Val) c.407C>T (p.Ala136Val) n.446C>T c.446C>T (p.Ala149Val) n.444C>T c.563C>T (p.Ala188Val) | gnomAD v4 |
X | g.135998538A= | CA2460189944 | SLC9A6 | c.660A= (p.Ala220=) c.504A= (p.Ala168=) c.408A= (p.Ala136=) n.447A= c.447A= (p.Ala149=) n.445A= c.564A= (p.Ala188=) | |
X | g.135998538A>C | CA518744086 | SLC9A6 | c.660A>C (p.Ala220=) c.504A>C (p.Ala168=) c.408A>C (p.Ala136=) n.447A>C c.447A>C (p.Ala149=) n.445A>C c.564A>C (p.Ala188=) | |
X | g.135998538A>G | CA10524681 | SLC9A6 | c.660A>G (p.Ala220=) c.504A>G (p.Ala168=) c.408A>G (p.Ala136=) n.447A>G c.447A>G (p.Ala149=) n.445A>G c.564A>G (p.Ala188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998538A>T | CA518744080 | SLC9A6 | c.660A>T (p.Ala220=) c.504A>T (p.Ala168=) c.408A>T (p.Ala136=) n.447A>T c.447A>T (p.Ala149=) n.445A>T c.564A>T (p.Ala188=) | |
X | g.135998539A>C | CA414750002 | SLC9A6 | c.661A>C (p.Ile221Leu) c.505A>C (p.Ile169Leu) c.409A>C (p.Ile137Leu) n.448A>C c.448A>C (p.Ile150Leu) n.446A>C c.565A>C (p.Ile189Leu) | |
X | g.135998539A>G | CA414750003 | SLC9A6 | c.661A>G (p.Ile221Val) c.505A>G (p.Ile169Val) c.409A>G (p.Ile137Val) n.448A>G c.448A>G (p.Ile150Val) n.446A>G c.565A>G (p.Ile189Val) | gnomAD v4 |
X | g.135998539A>T | CA414750004 | SLC9A6 | c.661A>T (p.Ile221Phe) c.505A>T (p.Ile169Phe) c.409A>T (p.Ile137Phe) n.448A>T c.448A>T (p.Ile150Phe) n.446A>T c.565A>T (p.Ile189Phe) | |
X | g.135998540T>A | CA414750005 | SLC9A6 | c.662T>A (p.Ile221Asn) c.506T>A (p.Ile169Asn) c.410T>A (p.Ile137Asn) n.449T>A c.449T>A (p.Ile150Asn) n.447T>A c.566T>A (p.Ile189Asn) | ClinVar |
X | g.135998540T>C | CA414750006 | SLC9A6 | c.662T>C (p.Ile221Thr) c.506T>C (p.Ile169Thr) c.410T>C (p.Ile137Thr) n.449T>C c.449T>C (p.Ile150Thr) n.447T>C c.566T>C (p.Ile189Thr) | |
X | g.135998540T>G | CA414750007 | SLC9A6 | c.662T>G (p.Ile221Ser) c.506T>G (p.Ile169Ser) c.410T>G (p.Ile137Ser) n.449T>G c.449T>G (p.Ile150Ser) n.447T>G c.566T>G (p.Ile189Ser) | |
X | g.135998541T>A | CA518744108 | SLC9A6 | c.663T>A (p.Ile221=) c.507T>A (p.Ile169=) c.411T>A (p.Ile137=) n.450T>A c.450T>A (p.Ile150=) n.448T>A c.567T>A (p.Ile189=) | |
X | g.135998541T>C | CA518744111 | SLC9A6 | c.663T>C (p.Ile221=) c.507T>C (p.Ile169=) c.411T>C (p.Ile137=) n.450T>C c.450T>C (p.Ile150=) n.448T>C c.567T>C (p.Ile189=) | gnomAD v4 |
X | g.135998541T>G | CA414750008 | SLC9A6 | c.663T>G (p.Ile221Met) c.507T>G (p.Ile169Met) c.411T>G (p.Ile137Met) n.450T>G c.450T>G (p.Ile150Met) n.448T>G c.567T>G (p.Ile189Met) | |
X | g.135998542T>A | CA414750009 | SLC9A6 | c.664T>A (p.Ser222Thr) c.508T>A (p.Ser170Thr) c.412T>A (p.Ser138Thr) n.451T>A c.451T>A (p.Ser151Thr) n.449T>A c.568T>A (p.Ser190Thr) | |
X | g.135998542T>C | CA414750010 | SLC9A6 | c.664T>C (p.Ser222Pro) c.508T>C (p.Ser170Pro) c.412T>C (p.Ser138Pro) n.451T>C c.451T>C (p.Ser151Pro) n.449T>C c.568T>C (p.Ser190Pro) | |
X | g.135998542T>G | CA414750011 | SLC9A6 | c.664T>G (p.Ser222Ala) c.508T>G (p.Ser170Ala) c.412T>G (p.Ser138Ala) n.451T>G c.451T>G (p.Ser151Ala) n.449T>G c.568T>G (p.Ser190Ala) | |
X | g.135998543C>A | CA414750012 | SLC9A6 | c.665C>A (p.Ser222Tyr) c.509C>A (p.Ser170Tyr) c.413C>A (p.Ser138Tyr) n.452C>A c.452C>A (p.Ser151Tyr) n.450C>A c.569C>A (p.Ser190Tyr) | |
X | g.135998543C>G | CA414750013 | SLC9A6 | c.665C>G (p.Ser222Cys) c.509C>G (p.Ser170Cys) c.413C>G (p.Ser138Cys) n.452C>G c.452C>G (p.Ser151Cys) n.450C>G c.569C>G (p.Ser190Cys) | |
X | g.135998543C>T | CA414750014 | SLC9A6 | c.665C>T (p.Ser222Phe) c.509C>T (p.Ser170Phe) c.413C>T (p.Ser138Phe) n.452C>T c.452C>T (p.Ser151Phe) n.450C>T c.569C>T (p.Ser190Phe) | |
X | g.135998544T>A | CA518744148 | SLC9A6 | c.666T>A (p.Ser222=) c.510T>A (p.Ser170=) c.414T>A (p.Ser138=) n.453T>A c.453T>A (p.Ser151=) n.451T>A c.570T>A (p.Ser190=) | |
X | g.135998544T>C | CA518744152 | SLC9A6 | c.666T>C (p.Ser222=) c.510T>C (p.Ser170=) c.414T>C (p.Ser138=) n.453T>C c.453T>C (p.Ser151=) n.451T>C c.570T>C (p.Ser190=) | |
X | g.135998544T>G | CA518744170 | SLC9A6 | c.666T>G (p.Ser222=) c.510T>G (p.Ser170=) c.414T>G (p.Ser138=) n.453T>G c.453T>G (p.Ser151=) n.451T>G c.570T>G (p.Ser190=) | |
X | g.135998545T>A | CA414750015 | SLC9A6 | c.667T>A (p.Cys223Ser) c.511T>A (p.Cys171Ser) c.415T>A (p.Cys139Ser) n.454T>A c.454T>A (p.Cys152Ser) n.452T>A c.571T>A (p.Cys191Ser) | |
X | g.135998545T>C | CA414750017 | SLC9A6 | c.667T>C (p.Cys223Arg) c.511T>C (p.Cys171Arg) c.415T>C (p.Cys139Arg) n.454T>C c.454T>C (p.Cys152Arg) n.452T>C c.571T>C (p.Cys191Arg) | gnomAD v4 |
X | g.135998545T>G | CA414750016 | SLC9A6 | c.667T>G (p.Cys223Gly) c.511T>G (p.Cys171Gly) c.415T>G (p.Cys139Gly) n.454T>G c.454T>G (p.Cys152Gly) n.452T>G c.571T>G (p.Cys191Gly) | |
X | g.135998546G>A | CA414750018 | SLC9A6 | c.668G>A (p.Cys223Tyr) c.512G>A (p.Cys171Tyr) c.416G>A (p.Cys139Tyr) n.455G>A c.455G>A (p.Cys152Tyr) n.453G>A c.572G>A (p.Cys191Tyr) | ClinVar |
X | g.135998546G>C | CA414750019 | SLC9A6 | c.668G>C (p.Cys223Ser) c.512G>C (p.Cys171Ser) c.416G>C (p.Cys139Ser) n.455G>C c.455G>C (p.Cys152Ser) n.453G>C c.572G>C (p.Cys191Ser) | |
X | g.135998546G>T | CA414750020 | SLC9A6 | c.668G>T (p.Cys223Phe) c.512G>T (p.Cys171Phe) c.416G>T (p.Cys139Phe) n.455G>T c.455G>T (p.Cys152Phe) n.453G>T c.572G>T (p.Cys191Phe) | gnomAD v4 |
X | g.135998547T>A | CA414750021 | SLC9A6 | c.669T>A (p.Cys223Ter) c.513T>A (p.Cys171Ter) c.417T>A (p.Cys139Ter) n.456T>A c.456T>A (p.Cys152Ter) n.454T>A c.573T>A (p.Cys191Ter) | |
X | g.135998547T>C | CA518744195 | SLC9A6 | c.669T>C (p.Cys223=) c.513T>C (p.Cys171=) c.417T>C (p.Cys139=) n.456T>C c.456T>C (p.Cys152=) n.454T>C c.573T>C (p.Cys191=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.135998547T>G | CA414750022 | SLC9A6 | c.669T>G (p.Cys223Trp) c.513T>G (p.Cys171Trp) c.417T>G (p.Cys139Trp) n.456T>G c.456T>G (p.Cys152Trp) n.454T>G c.573T>G (p.Cys191Trp) | |
X | g.135998547T= | CA2460189945 | SLC9A6 | c.669T= (p.Cys223=) c.513T= (p.Cys171=) c.417T= (p.Cys139=) n.456T= c.456T= (p.Cys152=) n.454T= c.573T= (p.Cys191=) | |
X | g.135998548T>A | CA414750023 | SLC9A6 | c.670T>A (p.Phe224Ile) c.514T>A (p.Phe172Ile) c.418T>A (p.Phe140Ile) n.457T>A c.457T>A (p.Phe153Ile) n.455T>A c.574T>A (p.Phe192Ile) | |
X | g.135998548T>C | CA414750024 | SLC9A6 | c.670T>C (p.Phe224Leu) c.514T>C (p.Phe172Leu) c.418T>C (p.Phe140Leu) n.457T>C c.457T>C (p.Phe153Leu) n.455T>C c.574T>C (p.Phe192Leu) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135998548T>G | CA414750025 | SLC9A6 | c.670T>G (p.Phe224Val) c.514T>G (p.Phe172Val) c.418T>G (p.Phe140Val) n.457T>G c.457T>G (p.Phe153Val) n.455T>G c.574T>G (p.Phe192Val) | |
X | g.135998548T= | CA2460189946 | SLC9A6 | c.670T= (p.Phe224=) c.514T= (p.Phe172=) c.418T= (p.Phe140=) n.457T= c.457T= (p.Phe153=) n.455T= c.574T= (p.Phe192=) | |
X | g.135998549T>A | CA414750026 | SLC9A6 | c.671T>A (p.Phe224Tyr) c.515T>A (p.Phe172Tyr) c.419T>A (p.Phe140Tyr) n.458T>A c.458T>A (p.Phe153Tyr) n.456T>A c.575T>A (p.Phe192Tyr) | |
X | g.135998549T>C | CA414750027 | SLC9A6 | c.671T>C (p.Phe224Ser) c.515T>C (p.Phe172Ser) c.419T>C (p.Phe140Ser) n.458T>C c.458T>C (p.Phe153Ser) n.456T>C c.575T>C (p.Phe192Ser) | |
X | g.135998549T>G | CA414750028 | SLC9A6 | c.671T>G (p.Phe224Cys) c.515T>G (p.Phe172Cys) c.419T>G (p.Phe140Cys) n.458T>G c.458T>G (p.Phe153Cys) n.456T>G c.575T>G (p.Phe192Cys) | |
X | g.135998550C>A | CA414750030 | SLC9A6 | c.672C>A (p.Phe224Leu) c.516C>A (p.Phe172Leu) c.420C>A (p.Phe140Leu) n.459C>A c.459C>A (p.Phe153Leu) n.457C>A c.576C>A (p.Phe192Leu) | gnomAD v4 |
X | g.135998550C= | CA2460189947 | SLC9A6 | c.672C= (p.Phe224=) c.516C= (p.Phe172=) c.420C= (p.Phe140=) n.459C= c.459C= (p.Phe153=) n.457C= c.576C= (p.Phe192=) | |
X | g.135998550C>G | CA414750029 | SLC9A6 | c.672C>G (p.Phe224Leu) c.516C>G (p.Phe172Leu) c.420C>G (p.Phe140Leu) n.459C>G c.459C>G (p.Phe153Leu) n.457C>G c.576C>G (p.Phe192Leu) | |
X | g.135998550C>T | CA518744234 | SLC9A6 | c.672C>T (p.Phe224=) c.516C>T (p.Phe172=) c.420C>T (p.Phe140=) n.459C>T c.459C>T (p.Phe153=) n.457C>T c.576C>T (p.Phe192=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.135998551G>A | CA10524682 | SLC9A6 | c.673G>A (p.Val225Ile) c.517G>A (p.Val173Ile) c.421G>A (p.Val141Ile) n.460G>A c.460G>A (p.Val154Ile) n.458G>A c.577G>A (p.Val193Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998551G>C | CA414750032 | SLC9A6 | c.673G>C (p.Val225Leu) c.517G>C (p.Val173Leu) c.421G>C (p.Val141Leu) n.460G>C c.460G>C (p.Val154Leu) n.458G>C c.577G>C (p.Val193Leu) | |
X | g.135998551G= | CA2460189948 | SLC9A6 | c.673G= (p.Val225=) c.517G= (p.Val173=) c.421G= (p.Val141=) n.460G= c.460G= (p.Val154=) n.458G= c.577G= (p.Val193=) | |
X | g.135998551G>T | CA414750031 | SLC9A6 | c.673G>T (p.Val225Phe) c.517G>T (p.Val173Phe) c.421G>T (p.Val141Phe) n.460G>T c.460G>T (p.Val154Phe) n.458G>T c.577G>T (p.Val193Phe) | |
X | g.135998552T>A | CA414750033 | SLC9A6 | c.674T>A (p.Val225Asp) c.518T>A (p.Val173Asp) c.422T>A (p.Val141Asp) n.461T>A c.461T>A (p.Val154Asp) n.459T>A c.578T>A (p.Val193Asp) | |
X | g.135998552T>C | CA414750034 | SLC9A6 | c.674T>C (p.Val225Ala) c.518T>C (p.Val173Ala) c.422T>C (p.Val141Ala) n.461T>C c.461T>C (p.Val154Ala) n.459T>C c.578T>C (p.Val193Ala) | gnomAD v4 |
X | g.135998552T>G | CA414750035 | SLC9A6 | c.674T>G (p.Val225Gly) c.518T>G (p.Val173Gly) c.422T>G (p.Val141Gly) n.461T>G c.461T>G (p.Val154Gly) n.459T>G c.578T>G (p.Val193Gly) | |
X | g.135998553T>A | CA518744271 | SLC9A6 | c.675T>A (p.Val225=) c.519T>A (p.Val173=) c.423T>A (p.Val141=) n.462T>A c.462T>A (p.Val154=) n.460T>A c.579T>A (p.Val193=) | |
X | g.135998553T>C | CA518744272 | SLC9A6 | c.675T>C (p.Val225=) c.519T>C (p.Val173=) c.423T>C (p.Val141=) n.462T>C c.462T>C (p.Val154=) n.460T>C c.579T>C (p.Val193=) | |
X | g.135998553T>G | CA518744274 | SLC9A6 | c.675T>G (p.Val225=) c.519T>G (p.Val173=) c.423T>G (p.Val141=) n.462T>G c.462T>G (p.Val154=) n.460T>G c.579T>G (p.Val193=) | |
X | g.135998554A>C | CA414750036 | SLC9A6 | c.676A>C (p.Ile226Leu) c.520A>C (p.Ile174Leu) c.424A>C (p.Ile142Leu) n.463A>C c.463A>C (p.Ile155Leu) n.461A>C c.580A>C (p.Ile194Leu) | |
X | g.135998554A>G | CA414750037 | SLC9A6 | c.676A>G (p.Ile226Val) c.520A>G (p.Ile174Val) c.424A>G (p.Ile142Val) n.463A>G c.463A>G (p.Ile155Val) n.461A>G c.580A>G (p.Ile194Val) | gnomAD v4 |
X | g.135998554A>T | CA414750038 | SLC9A6 | c.676A>T (p.Ile226Phe) c.520A>T (p.Ile174Phe) c.424A>T (p.Ile142Phe) n.463A>T c.463A>T (p.Ile155Phe) n.461A>T c.580A>T (p.Ile194Phe) | |
X | g.135998555T>A | CA414750039 | SLC9A6 | c.677T>A (p.Ile226Asn) c.521T>A (p.Ile174Asn) c.425T>A (p.Ile142Asn) n.464T>A c.464T>A (p.Ile155Asn) n.462T>A c.581T>A (p.Ile194Asn) | |
X | g.135998555T>C | CA414750040 | SLC9A6 | c.677T>C (p.Ile226Thr) c.521T>C (p.Ile174Thr) c.425T>C (p.Ile142Thr) n.464T>C c.464T>C (p.Ile155Thr) n.462T>C c.581T>C (p.Ile194Thr) | gnomAD v4 |
X | g.135998555T>G | CA414750041 | SLC9A6 | c.677T>G (p.Ile226Ser) c.521T>G (p.Ile174Ser) c.425T>G (p.Ile142Ser) n.464T>G c.464T>G (p.Ile155Ser) n.462T>G c.581T>G (p.Ile194Ser) | |
X | g.135998556T>A | CA518744313 | SLC9A6 | c.678T>A (p.Ile226=) c.522T>A (p.Ile174=) c.426T>A (p.Ile142=) n.465T>A c.465T>A (p.Ile155=) n.463T>A c.582T>A (p.Ile194=) | |
X | g.135998556T>C | CA518744320 | SLC9A6 | c.678T>C (p.Ile226=) c.522T>C (p.Ile174=) c.426T>C (p.Ile142=) n.465T>C c.465T>C (p.Ile155=) n.463T>C c.582T>C (p.Ile194=) | |
X | g.135998556T>G | CA10524683 | SLC9A6 | c.678T>G (p.Ile226Met) c.522T>G (p.Ile174Met) c.426T>G (p.Ile142Met) n.465T>G c.465T>G (p.Ile155Met) n.463T>G c.582T>G (p.Ile194Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.135998556T= | CA2460189949 | SLC9A6 | c.678T= (p.Ile226=) c.522T= (p.Ile174=) c.426T= (p.Ile142=) n.465T= c.465T= (p.Ile155=) n.463T= c.582T= (p.Ile194=) | |
X | g.135998557G>A | CA414750042 | SLC9A6 | c.679G>A (p.Gly227Arg) c.523G>A (p.Gly175Arg) c.427G>A (p.Gly143Arg) n.466G>A c.466G>A (p.Gly156Arg) n.464G>A c.583G>A (p.Gly195Arg) | gnomAD v4 |
X | g.135998557G>C | CA414750043 | SLC9A6 | c.679G>C (p.Gly227Arg) c.523G>C (p.Gly175Arg) c.427G>C (p.Gly143Arg) n.466G>C c.466G>C (p.Gly156Arg) n.464G>C c.583G>C (p.Gly195Arg) | |
X | g.135998557G>T | CA414750044 | SLC9A6 | c.679G>T (p.Gly227Trp) c.523G>T (p.Gly175Trp) c.427G>T (p.Gly143Trp) n.466G>T c.466G>T (p.Gly156Trp) n.464G>T c.583G>T (p.Gly195Trp) | |
X | g.135998558G>A | CA414750047 | SLC9A6 | c.680G>A (p.Gly227Glu) c.524G>A (p.Gly175Glu) c.428G>A (p.Gly143Glu) n.467G>A c.467G>A (p.Gly156Glu) n.465G>A c.584G>A (p.Gly195Glu) | |
X | g.135998558G>C | CA414750045 | SLC9A6 | c.680G>C (p.Gly227Ala) c.524G>C (p.Gly175Ala) c.428G>C (p.Gly143Ala) n.467G>C c.467G>C (p.Gly156Ala) n.465G>C c.584G>C (p.Gly195Ala) | |
X | g.135998558G>T | CA414750046 | SLC9A6 | c.680G>T (p.Gly227Val) c.524G>T (p.Gly175Val) c.428G>T (p.Gly143Val) n.467G>T c.467G>T (p.Gly156Val) n.465G>T c.584G>T (p.Gly195Val) | |
X | g.135998559G>A | CA318521 | SLC9A6 | c.680+1G>A (n.680+1G>A) c.524+1G>A (n.524+1G>A) c.428+1G>A (n.428+1G>A) n.467+1G>A c.467+1G>A (n.467+1G>A) n.465+1G>A c.584+1G>A (n.584+1G>A) | dbSNP gnomAD v4 |
X | g.135998559G>C | CA414750048 | SLC9A6 | c.680+1G>C (n.680+1G>C) c.524+1G>C (n.524+1G>C) c.428+1G>C (n.428+1G>C) n.467+1G>C c.467+1G>C (n.467+1G>C) n.465+1G>C c.584+1G>C (n.584+1G>C) | |
X | g.135998559G= | CA2460189950 | SLC9A6 | c.680+1G= (n.680+1G=) c.524+1G= (n.524+1G=) c.428+1G= (n.428+1G=) n.467+1G= c.467+1G= (n.467+1G=) n.465+1G= c.584+1G= (n.584+1G=) | |
X | g.135998559G>T | CA414750049 | SLC9A6 | c.680+1G>T (n.680+1G>T) c.524+1G>T (n.524+1G>T) c.428+1G>T (n.428+1G>T) n.467+1G>T c.467+1G>T (n.467+1G>T) n.465+1G>T c.584+1G>T (n.584+1G>T) | gnomAD v4 |
X | g.135998560T>A | CA414750050 | SLC9A6 | c.680+2T>A (n.680+2T>A) c.524+2T>A (n.524+2T>A) c.428+2T>A (n.428+2T>A) n.467+2T>A c.467+2T>A (n.467+2T>A) n.465+2T>A c.584+2T>A (n.584+2T>A) | gnomAD v4 |
X | g.135998560T>C | CA414750051 | SLC9A6 | c.680+2T>C (n.680+2T>C) c.524+2T>C (n.524+2T>C) c.428+2T>C (n.428+2T>C) n.467+2T>C c.467+2T>C (n.467+2T>C) n.465+2T>C c.584+2T>C (n.584+2T>C) | gnomAD v4 |
X | g.135998560T>G | CA414750052 | SLC9A6 | c.680+2T>G (n.680+2T>G) c.524+2T>G (n.524+2T>G) c.428+2T>G (n.428+2T>G) n.467+2T>G c.467+2T>G (n.467+2T>G) n.465+2T>G c.584+2T>G (n.584+2T>G) | |
X | g.135998561A= | CA2460189951 | SLC9A6 | c.680+3A= (n.680+3A=) c.524+3A= (n.524+3A=) c.428+3A= (n.428+3A=) n.467+3A= c.467+3A= (n.467+3A=) n.465+3A= c.584+3A= (n.584+3A=) | |
X | g.135998561A>G | CA10524684 | SLC9A6 | c.680+3A>G (n.680+3A>G) c.524+3A>G (n.524+3A>G) c.428+3A>G (n.428+3A>G) n.467+3A>G c.467+3A>G (n.467+3A>G) n.465+3A>G c.584+3A>G (n.584+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998562del | CA2579709684 | SLC9A6 | c.680+4del (n.680+4del) c.524+4del (n.524+4del) c.428+4del (n.428+4del) n.467+4del c.467+4del (n.467+4del) n.465+4del c.584+4del (n.584+4del) | |
X | g.135998562A>G | CA2694793706 | SLC9A6 | c.680+4A>G (n.680+4A>G) c.524+4A>G (n.524+4A>G) c.428+4A>G (n.428+4A>G) n.467+4A>G c.467+4A>G (n.467+4A>G) n.465+4A>G c.584+4A>G (n.584+4A>G) | gnomAD v4 |
X | g.135998563G>A | CA318523 | SLC9A6 | c.680+5G>A (n.680+5G>A) c.524+5G>A (n.524+5G>A) c.428+5G>A (n.428+5G>A) n.467+5G>A c.467+5G>A (n.467+5G>A) n.465+5G>A c.584+5G>A (n.584+5G>A) | ClinVar dbSNP |
X | g.135998563G= | CA2460189953 | SLC9A6 | c.680+5G= (n.680+5G=) c.524+5G= (n.524+5G=) c.428+5G= (n.428+5G=) n.467+5G= c.467+5G= (n.467+5G=) n.465+5G= c.584+5G= (n.584+5G=) | |
X | g.135998563_135998568delinsGTATTT | CA2460189952 | SLC9A6 | c.680+5_680+10delinsGTATTT (n.680+5_680+10delinsGTATTT) c.524+5_524+10delinsGTATTT (n.524+5_524+10delinsGTATTT) c.428+5_428+10delinsGTATTT (n.428+5_428+10delinsGTATTT) n.467+5_467+10delinsGTATTT c.467+5_467+10delinsGTATTT (n.467+5_467+10delinsGTATTT) n.465+5_465+10delinsGTATTT c.584+5_584+10delinsGTATTT (n.584+5_584+10delinsGTATTT) | |
X | g.135998564T>C | CA2694793707 | SLC9A6 | c.680+6T>C (n.680+6T>C) c.524+6T>C (n.524+6T>C) c.428+6T>C (n.428+6T>C) n.467+6T>C c.467+6T>C (n.467+6T>C) n.465+6T>C c.584+6T>C (n.584+6T>C) | gnomAD v4 |
X | g.135998566_135998570del | CA10524685 | SLC9A6 | c.680+8_680+12del (n.680+8_680+12del) c.524+8_524+12del (n.524+8_524+12del) c.428+8_428+12del (n.428+8_428+12del) n.467+8_467+12del c.467+8_467+12del (n.467+8_467+12del) n.465+8_465+12del c.584+8_584+12del (n.584+8_584+12del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998565A>G | CA2694793708 | SLC9A6 | c.680+7A>G (n.680+7A>G) c.524+7A>G (n.524+7A>G) c.428+7A>G (n.428+7A>G) n.467+7A>G c.467+7A>G (n.467+7A>G) n.465+7A>G c.584+7A>G (n.584+7A>G) | gnomAD v4 |
X | g.135998568T>C | CA2694793709 | SLC9A6 | c.680+10T>C (n.680+10T>C) c.524+10T>C (n.524+10T>C) c.428+10T>C (n.428+10T>C) n.467+10T>C c.467+10T>C (n.467+10T>C) n.465+10T>C c.584+10T>C (n.584+10T>C) | gnomAD v4 |
X | g.135998569T>A | CA2694793710 | SLC9A6 | c.680+11T>A (n.680+11T>A) c.524+11T>A (n.524+11T>A) c.428+11T>A (n.428+11T>A) n.467+11T>A c.467+11T>A (n.467+11T>A) n.465+11T>A c.584+11T>A (n.584+11T>A) | gnomAD v4 |
X | g.135998569T>C | CA2460189955 | SLC9A6 | c.680+11T>C (n.680+11T>C) c.524+11T>C (n.524+11T>C) c.428+11T>C (n.428+11T>C) n.467+11T>C c.467+11T>C (n.467+11T>C) n.465+11T>C c.584+11T>C (n.584+11T>C) | dbSNP |
X | g.135998569T= | CA2460189954 | SLC9A6 | c.680+11T= (n.680+11T=) c.524+11T= (n.524+11T=) c.428+11T= (n.428+11T=) n.467+11T= c.467+11T= (n.467+11T=) n.465+11T= c.584+11T= (n.584+11T=) | |
X | g.135998570A= | CA2460189956 | SLC9A6 | c.680+12A= (n.680+12A=) c.524+12A= (n.524+12A=) c.428+12A= (n.428+12A=) n.467+12A= c.467+12A= (n.467+12A=) n.465+12A= c.584+12A= (n.584+12A=) | |
X | g.135998570A>T | CA644623067 | SLC9A6 | c.680+12A>T (n.680+12A>T) c.524+12A>T (n.524+12A>T) c.428+12A>T (n.428+12A>T) n.467+12A>T c.467+12A>T (n.467+12A>T) n.465+12A>T c.584+12A>T (n.584+12A>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.135998572G= | CA2460189957 | SLC9A6 | c.680+14G= (n.680+14G=) c.524+14G= (n.524+14G=) c.428+14G= (n.428+14G=) n.467+14G= c.467+14G= (n.467+14G=) n.465+14G= c.584+14G= (n.584+14G=) | |
X | g.135998572G>T | CA10524686 | SLC9A6 | c.680+14G>T (n.680+14G>T) c.524+14G>T (n.524+14G>T) c.428+14G>T (n.428+14G>T) n.467+14G>T c.467+14G>T (n.467+14G>T) n.465+14G>T c.584+14G>T (n.584+14G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.135998573C>A | CA2694793711 | SLC9A6 | c.680+15C>A (n.680+15C>A) c.524+15C>A (n.524+15C>A) c.428+15C>A (n.428+15C>A) n.467+15C>A c.467+15C>A (n.467+15C>A) n.465+15C>A c.584+15C>A (n.584+15C>A) | gnomAD v4 |
X | g.135998574T>C | CA2694793712 | SLC9A6 | c.680+16T>C (n.680+16T>C) c.524+16T>C (n.524+16T>C) c.428+16T>C (n.428+16T>C) n.467+16T>C c.467+16T>C (n.467+16T>C) n.465+16T>C c.584+16T>C (n.584+16T>C) | gnomAD v4 |
X | g.135998575T>A | CA2694793713 | SLC9A6 | c.680+17T>A (n.680+17T>A) c.524+17T>A (n.524+17T>A) c.428+17T>A (n.428+17T>A) n.467+17T>A c.467+17T>A (n.467+17T>A) n.465+17T>A c.584+17T>A (n.584+17T>A) | gnomAD v4 |
X | g.135998576A>G | CA2579709693 | SLC9A6 | c.680+18A>G (n.680+18A>G) c.524+18A>G (n.524+18A>G) c.428+18A>G (n.428+18A>G) n.467+18A>G c.467+18A>G (n.467+18A>G) n.465+18A>G c.584+18A>G (n.584+18A>G) | |
X | g.135998579dup | CA2694793714 | SLC9A6 | c.680+21dup (n.680+21dup) c.524+21dup (n.524+21dup) c.428+21dup (n.428+21dup) n.467+21dup c.467+21dup (n.467+21dup) n.465+21dup c.584+21dup (n.584+21dup) | gnomAD v4 |