Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80108609_80108697del | CA2810576509 | GAA | c.1194+2_1195del | |
17 | g.80108640del | CA775512762 | GAA | c.1194+33del (n.1194+33del) | dbSNP |
17 | g.80108639G>A | CA628018488 | GAA | c.1194+32G>A (n.1194+32G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108639G= | CA2277812882 | GAA | c.1194+32G= (n.1194+32G=) | |
17 | g.80108643G>A | CA628018489 | GAA | c.1194+36G>A (n.1194+36G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108643G>C | CA2576414019 | GAA | c.1194+36G>C (n.1194+36G>C) | |
17 | g.80108643G= | CA2277812883 | GAA | c.1194+36G= (n.1194+36G=) | |
17 | g.80108644G>A | CA8815207 | GAA | c.1194+37G>A (n.1194+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108644G>C | CA628018492 | GAA | c.1194+37G>C (n.1194+37G>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108644G= | CA2277812884 | GAA | c.1194+37G= (n.1194+37G=) | |
17 | g.80108644G>T | CA2277812885 | GAA | c.1194+37G>T (n.1194+37G>T) | dbSNP |
17 | g.80108645C= | CA2277812886 | GAA | c.1194+38C= (n.1194+38C=) | |
17 | g.80108645C>T | CA8815208 | GAA | c.1194+38C>T (n.1194+38C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108646C= | CA2277812887 | GAA | c.1194+39C= (n.1194+39C=) | |
17 | g.80108646C>T | CA8815209 | GAA | c.1194+39C>T (n.1194+39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108647G>A | CA8815210 | GAA | c.1194+40G>A (n.1194+40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108647G= | CA2277812888 | GAA | c.1194+40G= (n.1194+40G=) | |
17 | g.80108650A= | CA2277812889 | GAA | c.1194+43A= (n.1194+43A=) | |
17 | g.80108650A>G | CA628018493 | GAA | c.1194+43A>G (n.1194+43A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108651C= | CA2277812890 | GAA | c.1194+44C= (n.1194+44C=) | |
17 | g.80108651C>G | CA2640286347 | GAA | c.1194+44C>G (n.1194+44C>G) | gnomAD v4 |
17 | g.80108651C>T | CA8815211 | GAA | c.1194+44C>T (n.1194+44C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108652G>A | CA8815212 | GAA | c.1195-45G>A (n.1195-45G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108652G= | CA2277812891 | GAA | c.1195-45G= (n.1195-45G=) | |
17 | g.80108653C= | CA2277812892 | GAA | c.1195-44C= (n.1195-44C=) | |
17 | g.80108653C>T | CA8815213 | GAA | c.1195-44C>T (n.1195-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108654G>A | CA8815214 | GAA | c.1195-43G>A (n.1195-43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108654G>C | CA2640286355 | GAA | c.1195-43G>C (n.1195-43G>C) | gnomAD v4 |
17 | g.80108654G= | CA2277812893 | GAA | c.1195-43G= (n.1195-43G=) | |
17 | g.80108655T>C | CA628018495 | GAA | c.1195-42T>C (n.1195-42T>C) | dbSNP gnomAD v2 |
17 | g.80108655T= | CA2277812894 | GAA | c.1195-42T= (n.1195-42T=) | |
17 | g.80108659_80108661del | CA2640286358 | GAA | c.1195-38_1195-36del (n.1195-38_1195-36del) | gnomAD v4 |
17 | g.80108657T>A | CA2640286363 | GAA | c.1195-40T>A (n.1195-40T>A) | gnomAD v4 |
17 | g.80108657T>G | CA8815215 | GAA | c.1195-40T>G (n.1195-40T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108657T= | CA2277812895 | GAA | c.1195-40T= (n.1195-40T=) | |
17 | g.80108658C= | CA2277812896 | GAA | c.1195-39C= (n.1195-39C=) | |
17 | g.80108658C>T | CA8815216 | GAA | c.1195-39C>T (n.1195-39C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108659C>T | CA2576414020 | GAA | c.1195-38C>T (n.1195-38C>T) | gnomAD v4 |
17 | g.80108661C>T | CA2640286369 | GAA | c.1195-36C>T (n.1195-36C>T) | gnomAD v4 |
17 | g.80108663G>A | CA628018498 | GAA | c.1195-34G>A (n.1195-34G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108663G= | CA2277812897 | GAA | c.1195-34G= (n.1195-34G=) | |
17 | g.80108664G>A | CA2277812899 | GAA | c.1195-33G>A (n.1195-33G>A) | dbSNP |
17 | g.80108664G= | CA2277812898 | GAA | c.1195-33G= (n.1195-33G=) | |
17 | g.80108665C= | CA2277812900 | GAA | c.1195-32C= (n.1195-32C=) | |
17 | g.80108665C>T | CA8815217 | GAA | c.1195-32C>T (n.1195-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108666C>A | CA2640286377 | GAA | c.1195-31C>A (n.1195-31C>A) | gnomAD v4 |
17 | g.80108666C= | CA2277812901 | GAA | c.1195-31C= (n.1195-31C=) | |
17 | g.80108666C>G | CA2640286379 | GAA | c.1195-31C>G (n.1195-31C>G) | gnomAD v4 |
17 | g.80108666C>T | CA8815218 | GAA | c.1195-31C>T (n.1195-31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108667C>T | CA2640286380 | GAA | c.1195-30C>T (n.1195-30C>T) | gnomAD v4 |
17 | g.80108669del | CA2640286383 | GAA | c.1195-28del (n.1195-28del) | gnomAD v4 |
17 | g.80108669A= | CA2277812902 | GAA | c.1195-28A= (n.1195-28A=) | |
17 | g.80108669A>C | CA2277812903 | GAA | c.1195-28A>C (n.1195-28A>C) | dbSNP |
17 | g.80108671C= | CA2277812904 | GAA | c.1195-26C= (n.1195-26C=) | |
17 | g.80108671C>G | CA8815219 | GAA | c.1195-26C>G (n.1195-26C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108672_80108681delinsAGACGGTCCC | CA2277812905 | GAA | c.1195-25_1195-16delinsAGACGGTCCC (n.1195-25_1195-16delinsAGACGGTCCC) | |
17 | g.80108673G>A | CA628018499 | GAA | c.1195-24G>A (n.1195-24G>A) | dbSNP gnomAD v2 |
17 | g.80108673G= | CA2277812906 | GAA | c.1195-24G= (n.1195-24G=) | |
17 | g.80108674_80108682del | CA8815220 | GAA | c.1195-23_1195-15del (n.1195-23_1195-15del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108674A= | CA2277812907 | GAA | c.1195-23A= (n.1195-23A=) | |
17 | g.80108674A>T | CA2277812908 | GAA | c.1195-23A>T (n.1195-23A>T) | dbSNP gnomAD v4 |
17 | g.80108675C= | CA2277812909 | GAA | c.1195-22C= (n.1195-22C=) | |
17 | g.80108675C>T | CA294892440 | GAA | c.1195-22C>T (n.1195-22C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108676G>A | CA8815221 | GAA | c.1195-21G>A (n.1195-21G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108676G= | CA2277812910 | GAA | c.1195-21G= (n.1195-21G=) | |
17 | g.80108676G>T | CA2277812911 | GAA | c.1195-21G>T (n.1195-21G>T) | dbSNP gnomAD v4 |
17 | g.80108677G>C | CA2734102147 | GAA | c.1195-20G>C (n.1195-20G>C) | dbSNP |
17 | g.80108679_80116948del | CA913184754 | GAA | c.1195-18_2190-20del c.1195-18_*328-20del | |
17 | g.80108678_80116951del | CA658795244 | GAA | c.1195-19_2190-17del c.1195-19_*328-17del | ClinVar |
17 | g.80108678T>C | CA2697555248 | GAA | c.1195-19T>C (n.1195-19T>C) | ClinVar |
17 | g.80108679C>A | CA2640286408 | GAA | c.1195-18C>A (n.1195-18C>A) | ClinVar gnomAD v4 |
17 | g.80108679C>T | CA2640286413 | GAA | c.1195-18C>T (n.1195-18C>T) | gnomAD v4 |
17 | g.80108680C>A | CA628018500 | GAA | c.1195-17C>A (n.1195-17C>A) | gnomAD v2 |
17 | g.80108680C= | CA2277812912 | GAA | c.1195-17C= (n.1195-17C=) | |
17 | g.80108680C>G | CA8815222 | GAA | c.1195-17C>G (n.1195-17C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108681C= | CA2277812913 | GAA | c.1195-16C= (n.1195-16C=) | |
17 | g.80108681C>T | CA8815224 | GAA | c.1195-16C>T (n.1195-16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108681_80108682insCAGCAGAC | CA8815223 | GAA | c.1195-16_1195-15insCAGCAGAC (n.1195-16_1195-15insCAGCAGAC) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108682G>A | CA8815225 | GAA | c.1195-15G>A (n.1195-15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108682G>C | CA8815226 | GAA | c.1195-15G>C (n.1195-15G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108682G= | CA2277812914 | GAA | c.1195-15G= (n.1195-15G=) | |
17 | g.80108682G>T | CA2640286435 | GAA | c.1195-15G>T (n.1195-15G>T) | gnomAD v4 |
17 | g.80108684G>A | CA2576414021 | GAA | c.1195-13G>A (n.1195-13G>A) | gnomAD v4 |
17 | g.80108684G= | CA2277812915 | GAA | c.1195-13G= (n.1195-13G=) | |
17 | g.80108684G>T | CA294892461 | GAA | c.1195-13G>T (n.1195-13G>T) | dbSNP gnomAD v4 |
17 | g.80108685T>A | CA2640286445 | GAA | c.1195-12T>A (n.1195-12T>A) | gnomAD v4 |
17 | g.80108685T>C | CA2277812917 | GAA | c.1195-12T>C (n.1195-12T>C) | dbSNP |
17 | g.80108685T= | CA2277812916 | GAA | c.1195-12T= (n.1195-12T=) | |
17 | g.80108686T>A | CA2695227080 | GAA | c.1195-11T>A (n.1195-11T>A) | |
17 | g.80108688T>C | CA2499225006 | GAA | c.1195-9T>C (n.1195-9T>C) | ClinVar dbSNP |
17 | g.80108688T>G | CA2640286454 | GAA | c.1195-9T>G (n.1195-9T>G) | gnomAD v4 |
17 | g.80108689G>A | CA658795245 | GAA | c.1195-8G>A (n.1195-8G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108689G= | CA2277812918 | GAA | c.1195-8G= (n.1195-8G=) | |
17 | g.80108690del | CA2697555249 | GAA | c.1195-7del (n.1195-7del) | ClinVar |
17 | g.80108692T>C | CA2499225007 | GAA | c.1195-5T>C (n.1195-5T>C) | ClinVar dbSNP gnomAD v4 |
17 | g.80108693G>A | CA2576414022 | GAA | c.1195-4G>A (n.1195-4G>A) | ClinVar |
17 | g.80108693G= | CA2277812919 | GAA | c.1195-4G= (n.1195-4G=) | |
17 | g.80108693G>T | CA10604494 | GAA | c.1195-4G>T (n.1195-4G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108694C= | CA2277812920 | GAA | c.1195-3C= (n.1195-3C=) | |
17 | g.80108694C>G | CA8815227 | GAA | c.1195-3C>G (n.1195-3C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108694C>T | CA2277812921 | GAA | c.1195-3C>T (n.1195-3C>T) | dbSNP gnomAD v4 |
17 | g.80108695A= | CA2277812922 | GAA | c.1195-2A= (n.1195-2A=) | |
17 | g.80108695A>C | CA8815229 | GAA | c.1195-2A>C (n.1195-2A>C) | ClinVar dbSNP ExAC gnomAD v4 |
17 | g.80108695A>G | CA8815228 | GAA | c.1195-2A>G (n.1195-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108695A>T | CA401365147 | GAA | c.1195-2A>T (n.1195-2A>T) | |
17 | g.80108696G>A | CA401365148 | GAA | c.1195-1G>A (n.1195-1G>A) | ClinVar dbSNP gnomAD v4 |
17 | g.80108696G>C | CA401365149 | GAA | c.1195-1G>C (n.1195-1G>C) | |
17 | g.80108696G= | CA2277812923 | GAA | c.1195-1G= (n.1195-1G=) | |
17 | g.80108696G>T | CA401365150 | GAA | c.1195-1G>T (n.1195-1G>T) | gnomAD v4 |
17 | g.80108697G>A | CA401365151 | GAA | c.1195G>A (p.Asp399Asn) | gnomAD v4 |
17 | g.80108697G>C | CA401365152 | GAA | c.1195G>C (p.Asp399His) | |
17 | g.80108697G>T | CA401365153 | GAA | c.1195G>T (p.Asp399Tyr) | COSMIC |
17 | g.80108698A>C | CA401365156 | GAA | c.1196A>C (p.Asp399Ala) | |
17 | g.80108698A>G | CA401365154 | GAA | c.1196A>G (p.Asp399Gly) | |
17 | g.80108698A>T | CA401365155 | GAA | c.1196A>T (p.Asp399Val) | |
17 | g.80108701_80108712del | CA658795246 | GAA | c.1199_1210del (p.Val400_Asn403del) | |
17 | g.80108699C>A | CA401365157 | GAA | c.1197C>A (p.Asp399Glu) | |
17 | g.80108699C= | CA2277812925 | GAA | c.1197C= (p.Asp399=) | |
17 | g.80108699C>G | CA401365158 | GAA | c.1197C>G (p.Asp399Glu) | |
17 | g.80108699C>T | CA8815230 | GAA | c.1197C>T (p.Asp399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80108699_80108700delinsCG | CA2277812924 | GAA | c.1197_1198delinsCG (p.Asp399=) | |
17 | g.80108700del | CA8815231 | GAA | c.1198del (p.Val400SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108700G>A | CA8815232 | GAA | c.1198G>A (p.Val400Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108700G>C | CA401365159 | GAA | c.1198G>C (p.Val400Leu) | |
17 | g.80108700G= | CA2277812926 | GAA | c.1198G= (p.Val400=) | |
17 | g.80108700G>T | CA401365160 | GAA | c.1198G>T (p.Val400Phe) | |
17 | g.80108701T>A | CA401365161 | GAA | c.1199T>A (p.Val400Asp) | |
17 | g.80108701T>C | CA401365163 | GAA | c.1199T>C (p.Val400Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108701T>G | CA401365162 | GAA | c.1199T>G (p.Val400Gly) | |
17 | g.80108701T= | CA2277812927 | GAA | c.1199T= (p.Val400=) | |
17 | g.80108702C>A | CA502402442 | GAA | c.1200C>A (p.Val400=) | |
17 | g.80108702C= | CA2277812928 | GAA | c.1200C= (p.Val400=) | |
17 | g.80108702C>G | CA502402443 | GAA | c.1200C>G (p.Val400=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108702C>T | CA502402444 | GAA | c.1200C>T (p.Val400=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108703C>A | CA401365164 | GAA | c.1201C>A (p.Gln401Lys) | |
17 | g.80108703C>G | CA401365165 | GAA | c.1201C>G (p.Gln401Glu) | |
17 | g.80108703C>T | CA401365166 | GAA | c.1201C>T (p.Gln401Ter) | gnomAD v4 |
17 | g.80108704A>C | CA401365167 | GAA | c.1202A>C (p.Gln401Pro) | |
17 | g.80108704A>G | CA401365168 | GAA | c.1202A>G (p.Gln401Arg) | |
17 | g.80108704A>T | CA401365169 | GAA | c.1202A>T (p.Gln401Leu) | |
17 | g.80108704_80108705insAT | CA2547187765 | GAA | c.1202_1203insAT (p.Trp402CysfsTer?) | |
17 | g.80108705G>A | CA145749 | GAA | c.1203G>A (p.Gln401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108705G>C | CA401365170 | GAA | c.1203G>C (p.Gln401His) | |
17 | g.80108705G= | CA2277812929 | GAA | c.1203G= (p.Gln401=) | |
17 | g.80108705G>T | CA401365171 | GAA | c.1203G>T (p.Gln401His) | |
17 | g.80108705_80108706insGAACGACACGGGACCGTCTGCTGGGGCCTGAGGAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAA | CA2504127085 | GAA | c.1203_1204insGAACGACACGGGACCGTCTGCTGGGGCCTGAGGAGACGGTCCCGTGTTGTGGCTGCAGGACGTCCAA (p.Trp402GlufsTer?) | |
17 | g.80108706T>A | CA401365172 | GAA | c.1204T>A (p.Trp402Arg) | |
17 | g.80108706T>C | CA401365173 | GAA | c.1204T>C (p.Trp402Arg) | gnomAD v4 |
17 | g.80108706T>G | CA401365174 | GAA | c.1204T>G (p.Trp402Gly) | |
17 | g.80108707G>A | CA401365175 | GAA | c.1205G>A (p.Trp402Ter) | ClinVar |
17 | g.80108707G>C | CA401365177 | GAA | c.1205G>C (p.Trp402Ser) | |
17 | g.80108707G>T | CA401365176 | GAA | c.1205G>T (p.Trp402Leu) | |
17 | g.80108708G>A | CA401365178 | GAA | c.1206G>A (p.Trp402Ter) | |
17 | g.80108708G>C | CA401365179 | GAA | c.1206G>C (p.Trp402Cys) | |
17 | g.80108708G>T | CA401365180 | GAA | c.1206G>T (p.Trp402Cys) | |
17 | g.80108709A>C | CA401365181 | GAA | c.1207A>C (p.Asn403His) | |
17 | g.80108709A>G | CA401365182 | GAA | c.1207A>G (p.Asn403Asp) | |
17 | g.80108709A>T | CA401365183 | GAA | c.1207A>T (p.Asn403Tyr) | |
17 | g.80108710A>C | CA401365184 | GAA | c.1208A>C (p.Asn403Thr) | |
17 | g.80108710A>G | CA401365185 | GAA | c.1208A>G (p.Asn403Ser) | |
17 | g.80108710A>T | CA401365186 | GAA | c.1208A>T (p.Asn403Ile) | |
17 | g.80108711del | CA658795247 | GAA | c.1209del (p.Asn403LysfsTer?) | |
17 | g.80108711C>A | CA401365187 | GAA | c.1209C>A (p.Asn403Lys) | |
17 | g.80108711C= | CA2277812930 | GAA | c.1209C= (p.Asn403=) | |
17 | g.80108711C>G | CA401365188 | GAA | c.1209C>G (p.Asn403Lys) | |
17 | g.80108711C>T | CA8815233 | GAA | c.1209C>T (p.Asn403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108712G>A | CA8815234 | GAA | c.1210G>A (p.Asp404Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108712G>C | CA401365190 | GAA | c.1210G>C (p.Asp404His) | |
17 | g.80108712G= | CA2277812931 | GAA | c.1210G= (p.Asp404=) | |
17 | g.80108712G>T | CA401365189 | GAA | c.1210G>T (p.Asp404Tyr) | gnomAD v4 |
17 | g.80108713A= | CA2277812932 | GAA | c.1211A= (p.Asp404=) | |
17 | g.80108713A>C | CA401365191 | GAA | c.1211A>C (p.Asp404Ala) | |
17 | g.80108713A>G | CA401365192 | GAA | c.1211A>G (p.Asp404Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108713A>T | CA10604928 | GAA | c.1211A>T (p.Asp404Val) | ClinVar dbSNP gnomAD v4 |
17 | g.80108714C>A | CA401365193 | GAA | c.1212C>A (p.Asp404Glu) | |
17 | g.80108714C>G | CA401365194 | GAA | c.1212C>G (p.Asp404Glu) | |
17 | g.80108714C>T | CA502402447 | GAA | c.1212C>T (p.Asp404=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108715C>A | CA401365196 | GAA | c.1213C>A (p.Leu405Met) | |
17 | g.80108715C>G | CA401365195 | GAA | c.1213C>G (p.Leu405Val) | |
17 | g.80108715C>T | CA502402448 | GAA | c.1213C>T (p.Leu405=) | |
17 | g.80108716T>A | CA401365197 | GAA | c.1214T>A (p.Leu405Gln) | |
17 | g.80108716T>C | CA401365198 | GAA | c.1214T>C (p.Leu405Pro) | ClinVar dbSNP |
17 | g.80108716T>G | CA401365199 | GAA | c.1214T>G (p.Leu405Arg) | |
17 | g.80108717G>A | CA502402453 | GAA | c.1215G>A (p.Leu405=) | ClinVar gnomAD v4 |
17 | g.80108717G>C | CA502402454 | GAA | c.1215G>C (p.Leu405=) | |
17 | g.80108717G= | CA2277812933 | GAA | c.1215G= (p.Leu405=) | |
17 | g.80108717G>T | CA502402452 | GAA | c.1215G>T (p.Leu405=) | dbSNP |
17 | g.80108718G>A | CA401365200 | GAA | c.1216G>A (p.Asp406Asn) | ClinVar dbSNP |
17 | g.80108718G>C | CA401365201 | GAA | c.1216G>C (p.Asp406His) | |
17 | g.80108718G= | CA2277812934 | GAA | c.1216G= (p.Asp406=) | |
17 | g.80108718G>T | CA401365202 | GAA | c.1216G>T (p.Asp406Tyr) | COSMIC |
17 | g.80108719A>C | CA401365205 | GAA | c.1217A>C (p.Asp406Ala) | |
17 | g.80108719A>G | CA401365204 | GAA | c.1217A>G (p.Asp406Gly) | |
17 | g.80108719A>T | CA401365203 | GAA | c.1217A>T (p.Asp406Val) | |
17 | g.80108720C>A | CA401365206 | GAA | c.1218C>A (p.Asp406Glu) | |
17 | g.80108720C= | CA2277812935 | GAA | c.1218C= (p.Asp406=) | |
17 | g.80108720C>G | CA401365207 | GAA | c.1218C>G (p.Asp406Glu) | |
17 | g.80108720C>T | CA502402464 | GAA | c.1218C>T (p.Asp406=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108721T>A | CA401365208 | GAA | c.1219T>A (p.Tyr407Asn) | |
17 | g.80108721T>C | CA234047 | GAA | c.1219T>C (p.Tyr407His) | ClinVar dbSNP |
17 | g.80108721T>G | CA401365209 | GAA | c.1219T>G (p.Tyr407Asp) | |
17 | g.80108721T= | CA2277812936 | GAA | c.1219T= (p.Tyr407=) | |
17 | g.80108722A= | CA2277812937 | GAA | c.1220A= (p.Tyr407=) | |
17 | g.80108722A>C | CA401365210 | GAA | c.1220A>C (p.Tyr407Ser) | |
17 | g.80108722A>G | CA8815235 | GAA | c.1220A>G (p.Tyr407Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108722A>T | CA401365211 | GAA | c.1220A>T (p.Tyr407Phe) | |
17 | g.80108723del | CA2695227081 | GAA | c.1221del (p.Tyr407Ter) | |
17 | g.80108723C>A | CA401365212 | GAA | c.1221C>A (p.Tyr407Ter) | |
17 | g.80108723C>G | CA401365213 | GAA | c.1221C>G (p.Tyr407Ter) | |
17 | g.80108723C>T | CA502402469 | GAA | c.1221C>T (p.Tyr407=) | |
17 | g.80108724A= | CA2277812938 | GAA | c.1222A= (p.Met408=) | |
17 | g.80108724A>C | CA401365214 | GAA | c.1222A>C (p.Met408Leu) | dbSNP |
17 | g.80108724A>G | CA8815236 | GAA | c.1222A>G (p.Met408Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108724A>T | CA8815237 | GAA | c.1222A>T (p.Met408Leu) | dbSNP ExAC gnomAD v2 |
17 | g.80108725T>A | CA401365215 | GAA | c.1223T>A (p.Met408Lys) | gnomAD v4 |
17 | g.80108725T>C | CA401365216 | GAA | c.1223T>C (p.Met408Thr) | ClinVar |
17 | g.80108725T>G | CA401365217 | GAA | c.1223T>G (p.Met408Arg) | |
17 | g.80108725T= | CA2277812939 | GAA | c.1223T= (p.Met408=) | |
17 | g.80108726G>A | CA401365218 | GAA | c.1224G>A (p.Met408Ile) | |
17 | g.80108726G>C | CA401365219 | GAA | c.1224G>C (p.Met408Ile) | |
17 | g.80108726G>T | CA401365220 | GAA | c.1224G>T (p.Met408Ile) | |
17 | g.80108727dup | CA923726362 | GAA | c.1225dup (p.Asp409GlyfsTer?) | ClinVar dbSNP |
17 | g.80108727G>A | CA401365221 | GAA | c.1225G>A (p.Asp409Asn) | gnomAD v4 |
17 | g.80108727G>C | CA401365222 | GAA | c.1225G>C (p.Asp409His) | |
17 | g.80108727G>T | CA401365223 | GAA | c.1225G>T (p.Asp409Tyr) | |
17 | g.80108727_80108744del | CA2734102231 | GAA | c.1225_1242del (p.Asp409_Phe414del) | dbSNP |
17 | g.80108728A= | CA2277812940 | GAA | c.1226A= (p.Asp409=) | |
17 | g.80108728A>C | CA401365226 | GAA | c.1226A>C (p.Asp409Ala) | |
17 | g.80108728A>G | CA401365224 | GAA | c.1226A>G (p.Asp409Gly) | |
17 | g.80108728A>T | CA401365225 | GAA | c.1226A>T (p.Asp409Val) | |
17 | g.80108728_80108729insG | CA915952251 | GAA | c.1226_1227insG (p.Asp409GlufsTer?) | ClinVar dbSNP |
17 | g.80108729C>A | CA401365227 | GAA | c.1227C>A (p.Asp409Glu) | |
17 | g.80108729C= | CA2277812941 | GAA | c.1227C= (p.Asp409=) | |
17 | g.80108729C>G | CA401365228 | GAA | c.1227C>G (p.Asp409Glu) | |
17 | g.80108729C>T | CA502402484 | GAA | c.1227C>T (p.Asp409=) | ClinVar dbSNP gnomAD v4 |
17 | g.80108730T>A | CA401365229 | GAA | c.1228T>A (p.Ser410Thr) | |
17 | g.80108730T>C | CA401365230 | GAA | c.1228T>C (p.Ser410Pro) | ClinVar dbSNP |
17 | g.80108730T>G | CA401365231 | GAA | c.1228T>G (p.Ser410Ala) | |
17 | g.80108730T= | CA2277812942 | GAA | c.1228T= (p.Ser410=) | |
17 | g.80108731C>A | CA401365232 | GAA | c.1229C>A (p.Ser410Tyr) | |
17 | g.80108731C= | CA2277812943 | GAA | c.1229C= (p.Ser410=) | |
17 | g.80108731C>G | CA401365233 | GAA | c.1229C>G (p.Ser410Cys) | |
17 | g.80108731C>T | CA8815238 | GAA | c.1229C>T (p.Ser410Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80108733del | CA2695227082 | GAA | c.1231del (p.Arg411GlyfsTer29) | |
17 | g.80108732C>A | CA8815239 | GAA | c.1230C>A (p.Ser410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108732C= | CA2277812944 | GAA | c.1230C= (p.Ser410=) | |
17 | g.80108732C>G | CA502402492 | GAA | c.1230C>G (p.Ser410=) | |
17 | g.80108732C>T | CA502402490 | GAA | c.1230C>T (p.Ser410=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108733C>A | CA502402493 | GAA | c.1231C>A (p.Arg411=) | |
17 | g.80108733C= | CA2277812945 | GAA | c.1231C= (p.Arg411=) | |
17 | g.80108733C>G | CA401365234 | GAA | c.1231C>G (p.Arg411Gly) | |
17 | g.80108733C>T | CA8815240 | GAA | c.1231C>T (p.Arg411Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80108734G>A | CA8815241 | GAA | c.1232G>A (p.Arg411Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80108734G>C | CA401365236 | GAA | c.1232G>C (p.Arg411Pro) | ClinVar dbSNP |
17 | g.80108734G= | CA2277812946 | GAA | c.1232G= (p.Arg411=) | |
17 | g.80108734G>T | CA401365235 | GAA | c.1232G>T (p.Arg411Leu) | |
17 | g.80108736_80108738dup | CA2573154959 | GAA | c.1234_1236dup (p.Arg412_Asp413insArg) | ClinVar dbSNP |
17 | g.80108735G>A | CA502402504 | GAA | c.1233G>A (p.Arg411=) | |
17 | g.80108735G>C | CA502402499 | GAA | c.1233G>C (p.Arg411=) | |
17 | g.80108735G>T | CA502402502 | GAA | c.1233G>T (p.Arg411=) | gnomAD v4 |
17 | g.80108736A= | CA2277812947 | GAA | c.1234A= (p.Arg412=) | |
17 | g.80108736A>C | CA502402505 | GAA | c.1234A>C (p.Arg412=) | ClinVar |
17 | g.80108736A>G | CA401365237 | GAA | c.1234A>G (p.Arg412Gly) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108736A>T | CA401365238 | GAA | c.1234A>T (p.Arg412Trp) | |
17 | g.80108737G>A | CA294892536 | GAA | c.1235G>A (p.Arg412Lys) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.80108737G>C | CA401365239 | GAA | c.1235G>C (p.Arg412Thr) | |
17 | g.80108737G= | CA2277812948 | GAA | c.1235G= (p.Arg412=) | |
17 | g.80108737G>T | CA401365240 | GAA | c.1235G>T (p.Arg412Met) | |
17 | g.80108745_80108774del | CA2695227083 | GAA | c.1243_1272del (p.Thr415_Phe424del) | |
17 | g.80108738G>A | CA502402510 | GAA | c.1236G>A (p.Arg412=) | ClinVar |
17 | g.80108738G>C | CA401365241 | GAA | c.1236G>C (p.Arg412Ser) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.80108738G= | CA2277812949 | GAA | c.1236G= (p.Arg412=) | |
17 | g.80108738G>T | CA401365242 | GAA | c.1236G>T (p.Arg412Ser) | |
17 | g.80108739G>A | CA401365243 | GAA | c.1237G>A (p.Asp413Asn) | |
17 | g.80108739G>C | CA401365244 | GAA | c.1237G>C (p.Asp413His) | |
17 | g.80108739G>T | CA401365245 | GAA | c.1237G>T (p.Asp413Tyr) |