Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.134408147A>CCA375451886RXRAc.280-2A>C (n.280-2A>C)
c.199-2A>C (n.199-2A>C)
n.690-2A>C
c.-12-2A>C (n.-12-2A>C)
 gnomAD v4
9g.134408147A>GCA375451888RXRAc.280-2A>G (n.280-2A>G)
c.199-2A>G (n.199-2A>G)
n.690-2A>G
c.-12-2A>G (n.-12-2A>G)
 gnomAD v4
9g.134408147A>TCA375451890RXRAc.280-2A>T (n.280-2A>T)
c.199-2A>T (n.199-2A>T)
n.690-2A>T
c.-12-2A>T (n.-12-2A>T)
9g.134408147_134408150delCA2692437191RXRAc.280-2_281del
c.199-2_200del
n.690-2_691del
c.-12-2_-11del
 gnomAD v4
9g.134408148G>ACA375451892RXRAc.280-1G>A (n.280-1G>A)
c.199-1G>A (n.199-1G>A)
n.690-1G>A
c.-12-1G>A (n.-12-1G>A)
 gnomAD v4
9g.134408148G>CCA375451894RXRAc.280-1G>C (n.280-1G>C)
c.199-1G>C (n.199-1G>C)
n.690-1G>C
c.-12-1G>C (n.-12-1G>C)
9g.134408148G>TCA375451897RXRAc.280-1G>T (n.280-1G>T)
c.199-1G>T (n.199-1G>T)
n.690-1G>T
c.-12-1G>T (n.-12-1G>T)
9g.134408149C>ACA375451900RXRAc.280C>A (p.Leu94Ile)
c.199C>A (p.Leu67Ile)
n.690C>A
c.-12C>A (n.-12C>A)
 gnomAD v4
9g.134408149C>GCA375451901RXRAc.280C>G (p.Leu94Val)
c.199C>G (p.Leu67Val)
n.690C>G
c.-12C>G (n.-12C>G)
9g.134408149C>TCA375451902RXRAc.280C>T (p.Leu94Phe)
c.199C>T (p.Leu67Phe)
n.690C>T
c.-12C>T (n.-12C>T)
9g.134408150T>ACA375451906RXRAc.281T>A (p.Leu94His)
c.200T>A (p.Leu67His)
n.691T>A
c.-11T>A (n.-11T>A)
9g.134408150T>CCA375451908RXRAc.281T>C (p.Leu94Pro)
c.200T>C (p.Leu67Pro)
n.691T>C
c.-11T>C (n.-11T>C)
 gnomAD v4
9g.134408150T>GCA375451910RXRAc.281T>G (p.Leu94Arg)
c.200T>G (p.Leu67Arg)
n.691T>G
c.-11T>G (n.-11T>G)
9g.134408151C>ACA467647768RXRAc.282C>A (p.Leu94=)
c.201C>A (p.Leu67=)
n.692C>A
c.-10C>A (n.-10C>A)
9g.134408151C=CA1883176762RXRAc.282C= (p.Leu94=)
c.201C= (p.Leu67=)
n.692C=
c.-10C= (n.-10C=)
9g.134408151C>GCA467647773RXRAc.282C>G (p.Leu94=)
c.201C>G (p.Leu67=)
n.692C>G
c.-10C>G (n.-10C>G)
9g.134408151C>TCA467647771RXRAc.282C>T (p.Leu94=)
c.201C>T (p.Leu67=)
n.692C>T
c.-10C>T (n.-10C>T)
 dbSNP gnomAD v3 gnomAD v4
9g.134408152A>CCA375451917RXRAc.283A>C (p.Ser95Arg)
c.202A>C (p.Ser68Arg)
n.693A>C
c.-9A>C (n.-9A>C)
9g.134408152A>GCA375451916RXRAc.283A>G (p.Ser95Gly)
c.202A>G (p.Ser68Gly)
n.693A>G
c.-9A>G (n.-9A>G)
9g.134408152A>TCA375451913RXRAc.283A>T (p.Ser95Cys)
c.202A>T (p.Ser68Cys)
n.693A>T
c.-9A>T (n.-9A>T)
9g.134408153G>ACA375451919RXRAc.284G>A (p.Ser95Asn)
c.203G>A (p.Ser68Asn)
n.694G>A
c.-8G>A (n.-8G>A)
9g.134408153G>CCA375451921RXRAc.284G>C (p.Ser95Thr)
c.203G>C (p.Ser68Thr)
n.694G>C
c.-8G>C (n.-8G>C)
9g.134408153G>TCA375451926RXRAc.284G>T (p.Ser95Ile)
c.203G>T (p.Ser68Ile)
n.694G>T
c.-8G>T (n.-8G>T)
 gnomAD v4
9g.134408154C>ACA375451929RXRAc.285C>A (p.Ser95Arg)
c.204C>A (p.Ser68Arg)
n.695C>A
c.-7C>A (n.-7C>A)
 gnomAD v4
9g.134408154C>GCA375451931RXRAc.285C>G (p.Ser95Arg)
c.204C>G (p.Ser68Arg)
n.695C>G
c.-7C>G (n.-7C>G)
9g.134408154C>TCA467647787RXRAc.285C>T (p.Ser95=)
c.204C>T (p.Ser68=)
n.695C>T
c.-7C>T (n.-7C>T)
 gnomAD v4
9g.134408155T>ACA375451933RXRAc.286T>A (p.Ser96Thr)
c.205T>A (p.Ser69Thr)
n.696T>A
c.-6T>A (n.-6T>A)
9g.134408155T>CCA375451935RXRAc.286T>C (p.Ser96Pro)
c.205T>C (p.Ser69Pro)
n.696T>C
c.-6T>C (n.-6T>C)
9g.134408155T>GCA375451937RXRAc.286T>G (p.Ser96Ala)
c.205T>G (p.Ser69Ala)
n.696T>G
c.-6T>G (n.-6T>G)
9g.134408156C>ACA375451940RXRAc.287C>A (p.Ser96Ter)
c.206C>A (p.Ser69Ter)
n.697C>A
c.-5C>A (n.-5C>A)
9g.134408156C=CA1883176763RXRAc.287C= (p.Ser96=)
c.206C= (p.Ser69=)
n.697C=
c.-5C= (n.-5C=)
9g.134408156C>GCA375451951RXRAc.287C>G (p.Ser96Ter)
c.206C>G (p.Ser69Ter)
n.697C>G
c.-5C>G (n.-5C>G)
9g.134408156C>TCA5317698RXRAc.287C>T (p.Ser96Leu)
c.206C>T (p.Ser69Leu)
n.697C>T
c.-5C>T (n.-5C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408157A=CA1883176764RXRAc.288A= (p.Ser96=)
c.207A= (p.Ser69=)
n.698A=
c.-4A= (n.-4A=)
9g.134408157A>CCA467647803RXRAc.288A>C (p.Ser96=)
c.207A>C (p.Ser69=)
n.698A>C
c.-4A>C (n.-4A>C)
 gnomAD v4
9g.134408157A>GCA5317699RXRAc.288A>G (p.Ser96=)
c.207A>G (p.Ser69=)
n.698A>G
c.-4A>G (n.-4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408157A>TCA467647800RXRAc.288A>T (p.Ser96=)
c.207A>T (p.Ser69=)
n.698A>T
c.-4A>T (n.-4A>T)
9g.134408158C>ACA375451957RXRAc.289C>A (p.Pro97Thr)
c.208C>A (p.Pro70Thr)
n.699C>A
c.-3C>A (n.-3C>A)
 gnomAD v4
9g.134408158C=CA1883176765RXRAc.289C= (p.Pro97=)
c.208C= (p.Pro70=)
n.699C=
c.-3C= (n.-3C=)
9g.134408158C>GCA375451960RXRAc.289C>G (p.Pro97Ala)
c.208C>G (p.Pro70Ala)
n.699C>G
c.-3C>G (n.-3C>G)
9g.134408158C>TCA375451962RXRAc.289C>T (p.Pro97Ser)
c.208C>T (p.Pro70Ser)
n.699C>T
c.-3C>T (n.-3C>T)
 dbSNP gnomAD v2
9g.134408159C>ACA375451968RXRAc.290C>A (p.Pro97His)
c.209C>A (p.Pro70His)
n.700C>A
c.-2C>A (n.-2C>A)
9g.134408159C>GCA375451975RXRAc.290C>G (p.Pro97Arg)
c.209C>G (p.Pro70Arg)
n.700C>G
c.-2C>G (n.-2C>G)
 gnomAD v4
9g.134408159C>TCA375451970RXRAc.290C>T (p.Pro97Leu)
c.209C>T (p.Pro70Leu)
n.700C>T
c.-2C>T (n.-2C>T)
9g.134408160T>ACA467647809RXRAc.291T>A (p.Pro97=)
c.210T>A (p.Pro70=)
n.701T>A
c.-1T>A (n.-1T>A)
9g.134408160T>CCA467647810RXRAc.291T>C (p.Pro97=)
c.210T>C (p.Pro70=)
n.701T>C
c.-1T>C (n.-1T>C)
9g.134408160T>GCA467647812RXRAc.291T>G (p.Pro97=)
c.210T>G (p.Pro70=)
n.701T>G
c.-1T>G (n.-1T>G)
9g.134408161A=CA1883176766RXRAc.292A= (p.Met98=)
c.211A= (p.Met71=)
n.702A=
c.1A= (p.Met1=)
9g.134408161A>CCA375451980RXRAc.292A>C (p.Met98Leu)
c.211A>C (p.Met71Leu)
n.702A>C
c.1A>C (p.Met1Leu)
9g.134408161A>GCA375451982RXRAc.292A>G (p.Met98Val)
c.211A>G (p.Met71Val)
n.702A>G
c.1A>G (p.Met1Val)
 dbSNP gnomAD v4
9g.134408161A>TCA375451984RXRAc.292A>T (p.Met98Leu)
c.211A>T (p.Met71Leu)
n.702A>T
c.1A>T (p.Met1Leu)
9g.134408162T>ACA375451987RXRAc.293T>A (p.Met98Lys)
c.212T>A (p.Met71Lys)
n.703T>A
c.2T>A (p.Met1Lys)
9g.134408162T>CCA375451996RXRAc.293T>C (p.Met98Thr)
c.212T>C (p.Met71Thr)
n.703T>C
c.2T>C (p.Met1Thr)
 gnomAD v4
9g.134408162T>GCA375451998RXRAc.293T>G (p.Met98Arg)
c.212T>G (p.Met71Arg)
n.703T>G
c.2T>G (p.Met1Arg)
9g.134408163G>ACA375452000RXRAc.294G>A (p.Met98Ile)
c.213G>A (p.Met71Ile)
n.704G>A
c.3G>A (p.Met1Ile)
9g.134408163G>CCA375452002RXRAc.294G>C (p.Met98Ile)
c.213G>C (p.Met71Ile)
n.704G>C
c.3G>C (p.Met1Ile)
9g.134408163G>TCA375452003RXRAc.294G>T (p.Met98Ile)
c.213G>T (p.Met71Ile)
n.704G>T
c.3G>T (p.Met1Ile)
9g.134408164A>CCA375452004RXRAc.295A>C (p.Asn99His)
c.214A>C (p.Asn72His)
n.705A>C
c.4A>C (p.Asn2His)
9g.134408164A>GCA375452005RXRAc.295A>G (p.Asn99Asp)
c.214A>G (p.Asn72Asp)
n.705A>G
c.4A>G (p.Asn2Asp)
9g.134408164A>TCA375452006RXRAc.295A>T (p.Asn99Tyr)
c.214A>T (p.Asn72Tyr)
n.705A>T
c.4A>T (p.Asn2Tyr)
9g.134408165A>CCA375452007RXRAc.296A>C (p.Asn99Thr)
c.215A>C (p.Asn72Thr)
n.706A>C
c.5A>C (p.Asn2Thr)
9g.134408165A>GCA375452011RXRAc.296A>G (p.Asn99Ser)
c.215A>G (p.Asn72Ser)
n.706A>G
c.5A>G (p.Asn2Ser)
 COSMIC
9g.134408165A>TCA375452010RXRAc.296A>T (p.Asn99Ile)
c.215A>T (p.Asn72Ile)
n.706A>T
c.5A>T (p.Asn2Ile)
9g.134408166C>ACA375452020RXRAc.297C>A (p.Asn99Lys)
c.216C>A (p.Asn72Lys)
n.707C>A
c.6C>A (p.Asn2Lys)
 gnomAD v4
9g.134408166C>GCA375452023RXRAc.297C>G (p.Asn99Lys)
c.216C>G (p.Asn72Lys)
n.707C>G
c.6C>G (p.Asn2Lys)
9g.134408166C>TCA467647840RXRAc.297C>T (p.Asn99=)
c.216C>T (p.Asn72=)
n.707C>T
c.6C>T (p.Asn2=)
 gnomAD v4
9g.134408167C>ACA375452025RXRAc.298C>A (p.Pro100Thr)
c.217C>A (p.Pro73Thr)
n.708C>A
c.7C>A (p.Pro3Thr)
 dbSNP gnomAD v4
9g.134408167C=CA1883176767RXRAc.298C= (p.Pro100=)
c.217C= (p.Pro73=)
n.708C=
c.7C= (p.Pro3=)
9g.134408167C>GCA375452026RXRAc.298C>G (p.Pro100Ala)
c.217C>G (p.Pro73Ala)
n.708C>G
c.7C>G (p.Pro3Ala)
9g.134408167C>TCA375452029RXRAc.298C>T (p.Pro100Ser)
c.217C>T (p.Pro73Ser)
n.708C>T
c.7C>T (p.Pro3Ser)
9g.134408168C>ACA375452030RXRAc.299C>A (p.Pro100His)
c.218C>A (p.Pro73His)
n.709C>A
c.8C>A (p.Pro3His)
9g.134408168C>GCA375452031RXRAc.299C>G (p.Pro100Arg)
c.218C>G (p.Pro73Arg)
n.709C>G
c.8C>G (p.Pro3Arg)
9g.134408168C>TCA375452033RXRAc.299C>T (p.Pro100Leu)
c.218C>T (p.Pro73Leu)
n.709C>T
c.8C>T (p.Pro3Leu)
9g.134408169C>ACA467647843RXRAc.300C>A (p.Pro100=)
c.219C>A (p.Pro73=)
n.710C>A
c.9C>A (p.Pro3=)
 dbSNP gnomAD v3 gnomAD v4
9g.134408169C=CA1883176768RXRAc.300C= (p.Pro100=)
c.219C= (p.Pro73=)
n.710C=
c.9C= (p.Pro3=)
9g.134408169C>GCA467647845RXRAc.300C>G (p.Pro100=)
c.219C>G (p.Pro73=)
n.710C>G
c.9C>G (p.Pro3=)
9g.134408169C>TCA5317700RXRAc.300C>T (p.Pro100=)
c.219C>T (p.Pro73=)
n.710C>T
c.9C>T (p.Pro3=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408170G>ACA5317701RXRAc.301G>A (p.Val101Ile)
c.220G>A (p.Val74Ile)
n.711G>A
c.10G>A (p.Val4Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408170G>CCA375452035RXRAc.301G>C (p.Val101Leu)
c.220G>C (p.Val74Leu)
n.711G>C
c.10G>C (p.Val4Leu)
9g.134408170G=CA1883176769RXRAc.301G= (p.Val101=)
c.220G= (p.Val74=)
n.711G=
c.10G= (p.Val4=)
9g.134408170G>TCA375452036RXRAc.301G>T (p.Val101Phe)
c.220G>T (p.Val74Phe)
n.711G>T
c.10G>T (p.Val4Phe)
9g.134408171T>ACA375452039RXRAc.302T>A (p.Val101Asp)
c.221T>A (p.Val74Asp)
n.712T>A
c.11T>A (p.Val4Asp)
9g.134408171T>CCA375452038RXRAc.302T>C (p.Val101Ala)
c.221T>C (p.Val74Ala)
n.712T>C
c.11T>C (p.Val4Ala)
9g.134408171T>GCA375452037RXRAc.302T>G (p.Val101Gly)
c.221T>G (p.Val74Gly)
n.712T>G
c.11T>G (p.Val4Gly)
9g.134408171T=CA1883176770RXRAc.302T= (p.Val101=)
c.221T= (p.Val74=)
n.712T=
c.11T= (p.Val4=)
9g.134408172C>ACA467647858RXRAc.303C>A (p.Val101=)
c.222C>A (p.Val74=)
n.713C>A
c.12C>A (p.Val4=)
9g.134408172C>GCA467647860RXRAc.303C>G (p.Val101=)
c.222C>G (p.Val74=)
n.713C>G
c.12C>G (p.Val4=)
9g.134408172C>TCA467647863RXRAc.303C>T (p.Val101=)
c.222C>T (p.Val74=)
n.713C>T
c.12C>T (p.Val4=)
9g.134408179_134408181dupCA5317702RXRAc.310_312dup (p.Ser104_Glu105insSer)
c.229_231dup (p.Ser77_Glu78insSer)
n.720_722dup
c.19_21dup (p.Ser7_Glu8insSer)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408179_134408181delCA2692437203RXRAc.310_312del (p.Ser104del)
c.229_231del (p.Ser77del)
n.720_722del
c.19_21del (p.Ser7del)
 gnomAD v4
9g.134408173A>CCA375452040RXRAc.304A>C (p.Ser102Arg)
c.223A>C (p.Ser75Arg)
n.714A>C
c.13A>C (p.Ser5Arg)
9g.134408173A>GCA375452042RXRAc.304A>G (p.Ser102Gly)
c.223A>G (p.Ser75Gly)
n.714A>G
c.13A>G (p.Ser5Gly)
9g.134408173A>TCA375452044RXRAc.304A>T (p.Ser102Cys)
c.223A>T (p.Ser75Cys)
n.714A>T
c.13A>T (p.Ser5Cys)
9g.134408174G>ACA375452047RXRAc.305G>A (p.Ser102Asn)
c.224G>A (p.Ser75Asn)
n.715G>A
c.14G>A (p.Ser5Asn)
 gnomAD v4
9g.134408174G>CCA375452048RXRAc.305G>C (p.Ser102Thr)
c.224G>C (p.Ser75Thr)
n.715G>C
c.14G>C (p.Ser5Thr)
9g.134408174G>TCA375452049RXRAc.305G>T (p.Ser102Ile)
c.224G>T (p.Ser75Ile)
n.715G>T
c.14G>T (p.Ser5Ile)
9g.134408175C>ACA375452050RXRAc.306C>A (p.Ser102Arg)
c.225C>A (p.Ser75Arg)
n.716C>A
c.15C>A (p.Ser5Arg)
 gnomAD v4
9g.134408175C>GCA375452051RXRAc.306C>G (p.Ser102Arg)
c.225C>G (p.Ser75Arg)
n.716C>G
c.15C>G (p.Ser5Arg)
9g.134408175C>TCA467647880RXRAc.306C>T (p.Ser102=)
c.225C>T (p.Ser75=)
n.716C>T
c.15C>T (p.Ser5=)
 gnomAD v4
9g.134408176A=CA1883176771RXRAc.307A= (p.Ser103=)
c.226A= (p.Ser76=)
n.717A=
c.16A= (p.Ser6=)
9g.134408176A>CCA375452054RXRAc.307A>C (p.Ser103Arg)
c.226A>C (p.Ser76Arg)
n.717A>C
c.16A>C (p.Ser6Arg)
9g.134408176A>GCA375452055RXRAc.307A>G (p.Ser103Gly)
c.226A>G (p.Ser76Gly)
n.717A>G
c.16A>G (p.Ser6Gly)
 dbSNP gnomAD v4
9g.134408176A>TCA375452056RXRAc.307A>T (p.Ser103Cys)
c.226A>T (p.Ser76Cys)
n.717A>T
c.16A>T (p.Ser6Cys)
9g.134408177G>ACA375452057RXRAc.308G>A (p.Ser103Asn)
c.227G>A (p.Ser76Asn)
n.718G>A
c.17G>A (p.Ser6Asn)
 dbSNP gnomAD v2
9g.134408177G>CCA375452060RXRAc.308G>C (p.Ser103Thr)
c.227G>C (p.Ser76Thr)
n.718G>C
c.17G>C (p.Ser6Thr)
9g.134408177G=CA1883176772RXRAc.308G= (p.Ser103=)
c.227G= (p.Ser76=)
n.718G=
c.17G= (p.Ser6=)
9g.134408177G>TCA375452058RXRAc.308G>T (p.Ser103Ile)
c.227G>T (p.Ser76Ile)
n.718G>T
c.17G>T (p.Ser6Ile)
9g.134408178C>ACA375452061RXRAc.309C>A (p.Ser103Arg)
c.228C>A (p.Ser76Arg)
n.719C>A
c.18C>A (p.Ser6Arg)
 gnomAD v4
9g.134408178C>GCA375452063RXRAc.309C>G (p.Ser103Arg)
c.228C>G (p.Ser76Arg)
n.719C>G
c.18C>G (p.Ser6Arg)
9g.134408178C>TCA467648442RXRAc.309C>T (p.Ser103=)
c.228C>T (p.Ser76=)
n.719C>T
c.18C>T (p.Ser6=)
 gnomAD v4
9g.134408179A>CCA375452065RXRAc.310A>C (p.Ser104Arg)
c.229A>C (p.Ser77Arg)
n.720A>C
c.19A>C (p.Ser7Arg)
9g.134408179A>GCA375452068RXRAc.310A>G (p.Ser104Gly)
c.229A>G (p.Ser77Gly)
n.720A>G
c.19A>G (p.Ser7Gly)
9g.134408179A>TCA375452066RXRAc.310A>T (p.Ser104Cys)
c.229A>T (p.Ser77Cys)
n.720A>T
c.19A>T (p.Ser7Cys)
9g.134408180G>ACA375452070RXRAc.311G>A (p.Ser104Asn)
c.230G>A (p.Ser77Asn)
n.721G>A
c.20G>A (p.Ser7Asn)
9g.134408180G>CCA375452076RXRAc.311G>C (p.Ser104Thr)
c.230G>C (p.Ser77Thr)
n.721G>C
c.20G>C (p.Ser7Thr)
9g.134408180G>TCA375452073RXRAc.311G>T (p.Ser104Ile)
c.230G>T (p.Ser77Ile)
n.721G>T
c.20G>T (p.Ser7Ile)
9g.134408181C>ACA375452078RXRAc.312C>A (p.Ser104Arg)
c.231C>A (p.Ser77Arg)
n.722C>A
c.21C>A (p.Ser7Arg)
9g.134408181C=CA1883176773RXRAc.312C= (p.Ser104=)
c.231C= (p.Ser77=)
n.722C=
c.21C= (p.Ser7=)
9g.134408181C>GCA375452080RXRAc.312C>G (p.Ser104Arg)
c.231C>G (p.Ser77Arg)
n.722C>G
c.21C>G (p.Ser7Arg)
9g.134408181C>TCA5317703RXRAc.312C>T (p.Ser104=)
c.231C>T (p.Ser77=)
n.722C>T
c.21C>T (p.Ser7=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408182G>ACA5317704RXRAc.313G>A (p.Glu105Lys)
c.232G>A (p.Glu78Lys)
n.723G>A
c.22G>A (p.Glu8Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408182G>CCA375452084RXRAc.313G>C (p.Glu105Gln)
c.232G>C (p.Glu78Gln)
n.723G>C
c.22G>C (p.Glu8Gln)
9g.134408182G=CA1883176774RXRAc.313G= (p.Glu105=)
c.232G= (p.Glu78=)
n.723G=
c.22G= (p.Glu8=)
9g.134408182G>TCA375452085RXRAc.313G>T (p.Glu105Ter)
c.232G>T (p.Glu78Ter)
n.723G>T
c.22G>T (p.Glu8Ter)
9g.134408183A>CCA375452091RXRAc.314A>C (p.Glu105Ala)
c.233A>C (p.Glu78Ala)
n.724A>C
c.23A>C (p.Glu8Ala)
9g.134408183A>GCA375452088RXRAc.314A>G (p.Glu105Gly)
c.233A>G (p.Glu78Gly)
n.724A>G
c.23A>G (p.Glu8Gly)
9g.134408183A>TCA375452089RXRAc.314A>T (p.Glu105Val)
c.233A>T (p.Glu78Val)
n.724A>T
c.23A>T (p.Glu8Val)
9g.134408184G>ACA467648466RXRAc.315G>A (p.Glu105=)
c.234G>A (p.Glu78=)
n.725G>A
c.24G>A (p.Glu8=)
 dbSNP gnomAD v2 gnomAD v4
9g.134408184G>CCA375452092RXRAc.315G>C (p.Glu105Asp)
c.234G>C (p.Glu78Asp)
n.725G>C
c.24G>C (p.Glu8Asp)
9g.134408184G=CA1883176775RXRAc.315G= (p.Glu105=)
c.234G= (p.Glu78=)
n.725G=
c.24G= (p.Glu8=)
9g.134408184G>TCA375452093RXRAc.315G>T (p.Glu105Asp)
c.234G>T (p.Glu78Asp)
n.725G>T
c.24G>T (p.Glu8Asp)
9g.134408185G>ACA375452095RXRAc.316G>A (p.Asp106Asn)
c.235G>A (p.Asp79Asn)
n.726G>A
c.25G>A (p.Asp9Asn)
9g.134408185G>CCA375452097RXRAc.316G>C (p.Asp106His)
c.235G>C (p.Asp79His)
n.726G>C
c.25G>C (p.Asp9His)
9g.134408185G>TCA375452098RXRAc.316G>T (p.Asp106Tyr)
c.235G>T (p.Asp79Tyr)
n.726G>T
c.25G>T (p.Asp9Tyr)
9g.134408186A=CA1883176776RXRAc.317A= (p.Asp106=)
c.236A= (p.Asp79=)
n.727A=
c.26A= (p.Asp9=)
9g.134408186A>CCA375452103RXRAc.317A>C (p.Asp106Ala)
c.236A>C (p.Asp79Ala)
n.727A>C
c.26A>C (p.Asp9Ala)
9g.134408186A>GCA375452101RXRAc.317A>G (p.Asp106Gly)
c.236A>G (p.Asp79Gly)
n.727A>G
c.26A>G (p.Asp9Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.134408186A>TCA375452102RXRAc.317A>T (p.Asp106Val)
c.236A>T (p.Asp79Val)
n.727A>T
c.26A>T (p.Asp9Val)
9g.134408187C>ACA375452104RXRAc.318C>A (p.Asp106Glu)
c.237C>A (p.Asp79Glu)
n.728C>A
c.27C>A (p.Asp9Glu)
9g.134408187C>GCA375452106RXRAc.318C>G (p.Asp106Glu)
c.237C>G (p.Asp79Glu)
n.728C>G
c.27C>G (p.Asp9Glu)
9g.134408187C>TCA467648481RXRAc.318C>T (p.Asp106=)
c.237C>T (p.Asp79=)
n.728C>T
c.27C>T (p.Asp9=)
 gnomAD v4
9g.134408188A=CA1883176777RXRAc.319A= (p.Ile107=)
c.238A= (p.Ile80=)
n.729A=
c.28A= (p.Ile10=)
9g.134408188A>CCA375452108RXRAc.319A>C (p.Ile107Leu)
c.238A>C (p.Ile80Leu)
n.729A>C
c.28A>C (p.Ile10Leu)
9g.134408188A>GCA201084140RXRAc.319A>G (p.Ile107Val)
c.238A>G (p.Ile80Val)
n.729A>G
c.28A>G (p.Ile10Val)
 dbSNP gnomAD v2 gnomAD v4
9g.134408188A>TCA375452110RXRAc.319A>T (p.Ile107Phe)
c.238A>T (p.Ile80Phe)
n.729A>T
c.28A>T (p.Ile10Phe)
9g.134408189T>ACA375452111RXRAc.320T>A (p.Ile107Asn)
c.239T>A (p.Ile80Asn)
n.730T>A
c.29T>A (p.Ile10Asn)
9g.134408189T>CCA375452112RXRAc.320T>C (p.Ile107Thr)
c.239T>C (p.Ile80Thr)
n.730T>C
c.29T>C (p.Ile10Thr)
9g.134408189T>GCA375452113RXRAc.320T>G (p.Ile107Ser)
c.239T>G (p.Ile80Ser)
n.730T>G
c.29T>G (p.Ile10Ser)
9g.134408190C>ACA467648494RXRAc.321C>A (p.Ile107=)
c.240C>A (p.Ile80=)
n.731C>A
c.30C>A (p.Ile10=)
9g.134408190C>GCA375452115RXRAc.321C>G (p.Ile107Met)
c.240C>G (p.Ile80Met)
n.731C>G
c.30C>G (p.Ile10Met)
9g.134408190C>TCA467648498RXRAc.321C>T (p.Ile107=)
c.240C>T (p.Ile80=)
n.731C>T
c.30C>T (p.Ile10=)
 COSMIC
9g.134408191A>CCA375452117RXRAc.322A>C (p.Lys108Gln)
c.241A>C (p.Lys81Gln)
n.732A>C
c.31A>C (p.Lys11Gln)
9g.134408191A>GCA375452118RXRAc.322A>G (p.Lys108Glu)
c.241A>G (p.Lys81Glu)
n.732A>G
c.31A>G (p.Lys11Glu)
9g.134408191A>TCA375452120RXRAc.322A>T (p.Lys108Ter)
c.241A>T (p.Lys81Ter)
n.732A>T
c.31A>T (p.Lys11Ter)
9g.134408192A>CCA375452123RXRAc.323A>C (p.Lys108Thr)
c.242A>C (p.Lys81Thr)
n.733A>C
c.32A>C (p.Lys11Thr)
9g.134408192A>GCA375452128RXRAc.323A>G (p.Lys108Arg)
c.242A>G (p.Lys81Arg)
n.733A>G
c.32A>G (p.Lys11Arg)
9g.134408192A>TCA375452126RXRAc.323A>T (p.Lys108Met)
c.242A>T (p.Lys81Met)
n.733A>T
c.32A>T (p.Lys11Met)
9g.134408193G>ACA5317706RXRAc.324G>A (p.Lys108=)
c.243G>A (p.Lys81=)
n.734G>A
c.33G>A (p.Lys11=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408193G>CCA375452133RXRAc.324G>C (p.Lys108Asn)
c.243G>C (p.Lys81Asn)
n.734G>C
c.33G>C (p.Lys11Asn)
9g.134408193G=CA1883176778RXRAc.324G= (p.Lys108=)
c.243G= (p.Lys81=)
n.734G=
c.33G= (p.Lys11=)
9g.134408193G>TCA375452134RXRAc.324G>T (p.Lys108Asn)
c.243G>T (p.Lys81Asn)
n.734G>T
c.33G>T (p.Lys11Asn)
9g.134408194C>ACA375452139RXRAc.325C>A (p.Pro109Thr)
c.244C>A (p.Pro82Thr)
n.735C>A
c.34C>A (p.Pro12Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.134408194C=CA1883176779RXRAc.325C= (p.Pro109=)
c.244C= (p.Pro82=)
n.735C=
c.34C= (p.Pro12=)
9g.134408194C>GCA375452142RXRAc.325C>G (p.Pro109Ala)
c.244C>G (p.Pro82Ala)
n.735C>G
c.34C>G (p.Pro12Ala)
 gnomAD v4
9g.134408194C>TCA375452144RXRAc.325C>T (p.Pro109Ser)
c.244C>T (p.Pro82Ser)
n.735C>T
c.34C>T (p.Pro12Ser)
 COSMIC
9g.134408200dupCA5317705RXRAc.331dup (p.Leu111ProfsTer?)
c.250dup (p.Leu84ProfsTer?)
n.741dup
c.40dup (p.Leu14ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408199_134408200dupCA2786204015RXRAc.330_331dup (p.Leu111ProfsTer?)
c.249_250dup (p.Leu84ProfsTer?)
n.740_741dup
c.39_40dup (p.Leu14ProfsTer?)
9g.134408200delCA467648524RXRAc.331del (p.Leu111TrpfsTer?)
c.250del (p.Leu84TrpfsTer?)
n.741del
c.40del (p.Leu14TrpfsTer?)
 gnomAD v2 gnomAD v4 COSMIC
9g.134408195C>ACA375452147RXRAc.326C>A (p.Pro109His)
c.245C>A (p.Pro82His)
n.736C>A
c.35C>A (p.Pro12His)
 gnomAD v4
9g.134408195C=CA1883176780RXRAc.326C= (p.Pro109=)
c.245C= (p.Pro82=)
n.736C=
c.35C= (p.Pro12=)
9g.134408195C>GCA375452149RXRAc.326C>G (p.Pro109Arg)
c.245C>G (p.Pro82Arg)
n.736C>G
c.35C>G (p.Pro12Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.134408195C>TCA5317707RXRAc.326C>T (p.Pro109Leu)
c.245C>T (p.Pro82Leu)
n.736C>T
c.35C>T (p.Pro12Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408196C>ACA467648529RXRAc.327C>A (p.Pro109=)
c.246C>A (p.Pro82=)
n.737C>A
c.36C>A (p.Pro12=)
9g.134408196C=CA1883176781RXRAc.327C= (p.Pro109=)
c.246C= (p.Pro82=)
n.737C=
c.36C= (p.Pro12=)
9g.134408196C>GCA467648530RXRAc.327C>G (p.Pro109=)
c.246C>G (p.Pro82=)
n.737C>G
c.36C>G (p.Pro12=)
 gnomAD v4
9g.134408196C>TCA467648532RXRAc.327C>T (p.Pro109=)
c.246C>T (p.Pro82=)
n.737C>T
c.36C>T (p.Pro12=)
 dbSNP
9g.134408197C>ACA5317708RXRAc.328C>A (p.Pro110Thr)
c.247C>A (p.Pro83Thr)
n.738C>A
c.37C>A (p.Pro13Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408197C=CA1883176782RXRAc.328C= (p.Pro110=)
c.247C= (p.Pro83=)
n.738C=
c.37C= (p.Pro13=)
9g.134408197C>GCA375452155RXRAc.328C>G (p.Pro110Ala)
c.247C>G (p.Pro83Ala)
n.738C>G
c.37C>G (p.Pro13Ala)
 gnomAD v4
9g.134408197C>TCA375452157RXRAc.328C>T (p.Pro110Ser)
c.247C>T (p.Pro83Ser)
n.738C>T
c.37C>T (p.Pro13Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.134408198C>ACA375452162RXRAc.329C>A (p.Pro110His)
c.248C>A (p.Pro83His)
n.739C>A
c.38C>A (p.Pro13His)
 dbSNP gnomAD v2 gnomAD v4
9g.134408198C=CA1883176783RXRAc.329C= (p.Pro110=)
c.248C= (p.Pro83=)
n.739C=
c.38C= (p.Pro13=)
9g.134408198C>GCA375452166RXRAc.329C>G (p.Pro110Arg)
c.248C>G (p.Pro83Arg)
n.739C>G
c.38C>G (p.Pro13Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134408198C>TCA375452164RXRAc.329C>T (p.Pro110Leu)
c.248C>T (p.Pro83Leu)
n.739C>T
c.38C>T (p.Pro13Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.134408199C>ACA467648545RXRAc.330C>A (p.Pro110=)
c.249C>A (p.Pro83=)
n.740C>A
c.39C>A (p.Pro13=)
 dbSNP gnomAD v3 gnomAD v4
9g.134408199C=CA1883176784RXRAc.330C= (p.Pro110=)
c.249C= (p.Pro83=)
n.740C=
c.39C= (p.Pro13=)
9g.134408199C>GCA5317709RXRAc.330C>G (p.Pro110=)
c.249C>G (p.Pro83=)
n.740C>G
c.39C>G (p.Pro13=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408199C>TCA5317710RXRAc.330C>T (p.Pro110=)
c.249C>T (p.Pro83=)
n.740C>T
c.39C>T (p.Pro13=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408200C>ACA375452171RXRAc.331C>A (p.Leu111Met)
c.250C>A (p.Leu84Met)
n.741C>A
c.40C>A (p.Leu14Met)
9g.134408200C=CA1883176785RXRAc.331C= (p.Leu111=)
c.250C= (p.Leu84=)
n.741C=
c.40C= (p.Leu14=)
9g.134408200C>GCA5317711RXRAc.331C>G (p.Leu111Val)
c.250C>G (p.Leu84Val)
n.741C>G
c.40C>G (p.Leu14Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408200C>TCA467648554RXRAc.331C>T (p.Leu111=)
c.250C>T (p.Leu84=)
n.741C>T
c.40C>T (p.Leu14=)
 gnomAD v4
9g.134408200_134408201delinsCTCA1883176786RXRAc.331_332delinsCT (p.Leu111=)
c.250_251delinsCT (p.Leu84=)
n.741_742delinsCT
c.40_41delinsCT (p.Leu14=)
9g.134408201delCA1129841065RXRAc.332del (p.Leu111ArgfsTer?)
c.251del (p.Leu84ArgfsTer?)
n.742del
c.41del (p.Leu14ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.134408201T>ACA375452174RXRAc.332T>A (p.Leu111Gln)
c.251T>A (p.Leu84Gln)
n.742T>A
c.41T>A (p.Leu14Gln)
 gnomAD v4
9g.134408201T>CCA5317712RXRAc.332T>C (p.Leu111Pro)
c.251T>C (p.Leu84Pro)
n.742T>C
c.41T>C (p.Leu14Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408201T>GCA375452176RXRAc.332T>G (p.Leu111Arg)
c.251T>G (p.Leu84Arg)
n.742T>G
c.41T>G (p.Leu14Arg)
 gnomAD v4
9g.134408201T=CA1883176787RXRAc.332T= (p.Leu111=)
c.251T= (p.Leu84=)
n.742T=
c.41T= (p.Leu14=)
9g.134408202G>ACA467648567RXRAc.333G>A (p.Leu111=)
c.252G>A (p.Leu84=)
n.743G>A
c.42G>A (p.Leu14=)
9g.134408202G>CCA467648562RXRAc.333G>C (p.Leu111=)
c.252G>C (p.Leu84=)
n.743G>C
c.42G>C (p.Leu14=)
 gnomAD v4
9g.134408202G=CA1883176788RXRAc.333G= (p.Leu111=)
c.252G= (p.Leu84=)
n.743G=
c.42G= (p.Leu14=)
9g.134408202G>TCA467648566RXRAc.333G>T (p.Leu111=)
c.252G>T (p.Leu84=)
n.743G>T
c.42G>T (p.Leu14=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134408203G>ACA375452179RXRAc.334G>A (p.Gly112Ser)
c.253G>A (p.Gly85Ser)
n.744G>A
c.43G>A (p.Gly15Ser)
9g.134408203G>CCA375452200RXRAc.334G>C (p.Gly112Arg)
c.253G>C (p.Gly85Arg)
n.744G>C
c.43G>C (p.Gly15Arg)
9g.134408203G>TCA375452201RXRAc.334G>T (p.Gly112Cys)
c.253G>T (p.Gly85Cys)
n.744G>T
c.43G>T (p.Gly15Cys)
9g.134408204G>ACA5317713RXRAc.335G>A (p.Gly112Asp)
c.254G>A (p.Gly85Asp)
n.745G>A
c.44G>A (p.Gly15Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408204G>CCA375452205RXRAc.335G>C (p.Gly112Ala)
c.254G>C (p.Gly85Ala)
n.745G>C
c.44G>C (p.Gly15Ala)
9g.134408204G=CA1883176789RXRAc.335G= (p.Gly112=)
c.254G= (p.Gly85=)
n.745G=
c.44G= (p.Gly15=)
9g.134408204G>TCA375452204RXRAc.335G>T (p.Gly112Val)
c.254G>T (p.Gly85Val)
n.745G>T
c.44G>T (p.Gly15Val)
9g.134408205C>ACA5317714RXRAc.336C>A (p.Gly112=)
c.255C>A (p.Gly85=)
n.746C>A
c.45C>A (p.Gly15=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408205C=CA1883176790RXRAc.336C= (p.Gly112=)
c.255C= (p.Gly85=)
n.746C=
c.45C= (p.Gly15=)
9g.134408205C>GCA467648584RXRAc.336C>G (p.Gly112=)
c.255C>G (p.Gly85=)
n.746C>G
c.45C>G (p.Gly15=)
9g.134408205C>TCA467648581RXRAc.336C>T (p.Gly112=)
c.255C>T (p.Gly85=)
n.746C>T
c.45C>T (p.Gly15=)
 dbSNP gnomAD v2 gnomAD v4
9g.134408206C>ACA375452213RXRAc.337C>A (p.Leu113Ile)
c.256C>A (p.Leu86Ile)
n.747C>A
c.46C>A (p.Leu16Ile)
9g.134408206C>GCA375452217RXRAc.337C>G (p.Leu113Val)
c.256C>G (p.Leu86Val)
n.747C>G
c.46C>G (p.Leu16Val)
9g.134408206C>TCA375452219RXRAc.337C>T (p.Leu113Phe)
c.256C>T (p.Leu86Phe)
n.747C>T
c.46C>T (p.Leu16Phe)
9g.134408207T>ACA375452221RXRAc.338T>A (p.Leu113His)
c.257T>A (p.Leu86His)
n.748T>A
c.47T>A (p.Leu16His)
9g.134408207T>CCA375452223RXRAc.338T>C (p.Leu113Pro)
c.257T>C (p.Leu86Pro)
n.748T>C
c.47T>C (p.Leu16Pro)
9g.134408207T>GCA375452226RXRAc.338T>G (p.Leu113Arg)
c.257T>G (p.Leu86Arg)
n.748T>G
c.47T>G (p.Leu16Arg)
9g.134408208C>ACA467648598RXRAc.339C>A (p.Leu113=)
c.258C>A (p.Leu86=)
n.749C>A
c.48C>A (p.Leu16=)
9g.134408208C>GCA467648600RXRAc.339C>G (p.Leu113=)
c.258C>G (p.Leu86=)
n.749C>G
c.48C>G (p.Leu16=)
9g.134408208C>TCA467648602RXRAc.339C>T (p.Leu113=)
c.258C>T (p.Leu86=)
n.749C>T
c.48C>T (p.Leu16=)
 gnomAD v4
9g.134408209A>CCA375452234RXRAc.340A>C (p.Asn114His)
c.259A>C (p.Asn87His)
n.750A>C
c.49A>C (p.Asn17His)
9g.134408209A>GCA375452230RXRAc.340A>G (p.Asn114Asp)
c.259A>G (p.Asn87Asp)
n.750A>G
c.49A>G (p.Asn17Asp)
9g.134408209A>TCA375452232RXRAc.340A>T (p.Asn114Tyr)
c.259A>T (p.Asn87Tyr)
n.750A>T
c.49A>T (p.Asn17Tyr)
9g.134408210A=CA1883176791RXRAc.341A= (p.Asn114=)
c.260A= (p.Asn87=)
n.751A=
c.50A= (p.Asn17=)
9g.134408210A>CCA375452238RXRAc.341A>C (p.Asn114Thr)
c.260A>C (p.Asn87Thr)
n.751A>C
c.50A>C (p.Asn17Thr)
9g.134408210A>GCA5317715RXRAc.341A>G (p.Asn114Ser)
c.260A>G (p.Asn87Ser)
n.751A>G
c.50A>G (p.Asn17Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408210A>TCA375452241RXRAc.341A>T (p.Asn114Ile)
c.260A>T (p.Asn87Ile)
n.751A>T
c.50A>T (p.Asn17Ile)
9g.134408211T>ACA375452243RXRAc.342T>A (p.Asn114Lys)
c.261T>A (p.Asn87Lys)
n.752T>A
c.51T>A (p.Asn17Lys)
9g.134408211T>CCA467648614RXRAc.342T>C (p.Asn114=)
c.261T>C (p.Asn87=)
n.752T>C
c.51T>C (p.Asn17=)
 gnomAD v4
9g.134408211T>GCA375452245RXRAc.342T>G (p.Asn114Lys)
c.261T>G (p.Asn87Lys)
n.752T>G
c.51T>G (p.Asn17Lys)
9g.134408212G>ACA375452249RXRAc.343G>A (p.Gly115Ser)
c.262G>A (p.Gly88Ser)
n.753G>A
c.52G>A (p.Gly18Ser)
9g.134408212G>CCA375452252RXRAc.343G>C (p.Gly115Arg)
c.262G>C (p.Gly88Arg)
n.753G>C
c.52G>C (p.Gly18Arg)
9g.134408212G>TCA375452251RXRAc.343G>T (p.Gly115Cys)
c.262G>T (p.Gly88Cys)
n.753G>T
c.52G>T (p.Gly18Cys)
9g.134408213G>ACA375452255RXRAc.344G>A (p.Gly115Asp)
c.263G>A (p.Gly88Asp)
n.754G>A
c.53G>A (p.Gly18Asp)
9g.134408213G>CCA375452258RXRAc.344G>C (p.Gly115Ala)
c.263G>C (p.Gly88Ala)
n.754G>C
c.53G>C (p.Gly18Ala)
9g.134408213G=CA1883176792RXRAc.344G= (p.Gly115=)
c.263G= (p.Gly88=)
n.754G=
c.53G= (p.Gly18=)
9g.134408213G>TCA375452261RXRAc.344G>T (p.Gly115Val)
c.263G>T (p.Gly88Val)
n.754G>T
c.53G>T (p.Gly18Val)
 dbSNP
9g.134408214C>ACA467648624RXRAc.345C>A (p.Gly115=)
c.264C>A (p.Gly88=)
n.755C>A
c.54C>A (p.Gly18=)
9g.134408214C=CA1883176793RXRAc.345C= (p.Gly115=)
c.264C= (p.Gly88=)
n.755C=
c.54C= (p.Gly18=)
9g.134408214C>GCA467648625RXRAc.345C>G (p.Gly115=)
c.264C>G (p.Gly88=)
n.755C>G
c.54C>G (p.Gly18=)
9g.134408214C>TCA467648627RXRAc.345C>T (p.Gly115=)
c.264C>T (p.Gly88=)
n.755C>T
c.54C>T (p.Gly18=)
 dbSNP gnomAD v2 gnomAD v4
9g.134408215G>ACA5317716RXRAc.346G>A (p.Val116Ile)
c.265G>A (p.Val89Ile)
n.756G>A
c.55G>A (p.Val19Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408215G>CCA375452266RXRAc.346G>C (p.Val116Leu)
c.265G>C (p.Val89Leu)
n.756G>C
c.55G>C (p.Val19Leu)
9g.134408215G=CA1883176794RXRAc.346G= (p.Val116=)
c.265G= (p.Val89=)
n.756G=
c.55G= (p.Val19=)
9g.134408215G>TCA375452268RXRAc.346G>T (p.Val116Phe)
c.265G>T (p.Val89Phe)
n.756G>T
c.55G>T (p.Val19Phe)
9g.134408216T>ACA375452270RXRAc.347T>A (p.Val116Asp)
c.266T>A (p.Val89Asp)
n.757T>A
c.56T>A (p.Val19Asp)
9g.134408216T>CCA375452272RXRAc.347T>C (p.Val116Ala)
c.266T>C (p.Val89Ala)
n.757T>C
c.56T>C (p.Val19Ala)
9g.134408216T>GCA375452275RXRAc.347T>G (p.Val116Gly)
c.266T>G (p.Val89Gly)
n.757T>G
c.56T>G (p.Val19Gly)
9g.134408217C>ACA467648642RXRAc.348C>A (p.Val116=)
c.267C>A (p.Val89=)
n.758C>A
c.57C>A (p.Val19=)
 gnomAD v4
9g.134408217C>GCA467648644RXRAc.348C>G (p.Val116=)
c.267C>G (p.Val89=)
n.758C>G
c.57C>G (p.Val19=)
9g.134408217C>TCA467648647RXRAc.348C>T (p.Val116=)
c.267C>T (p.Val89=)
n.758C>T
c.57C>T (p.Val19=)
9g.134408218C>ACA375452277RXRAc.349C>A (p.Leu117Ile)
c.268C>A (p.Leu90Ile)
n.759C>A
c.58C>A (p.Leu20Ile)
 gnomAD v4
9g.134408218C>GCA375452279RXRAc.349C>G (p.Leu117Val)
c.268C>G (p.Leu90Val)
n.759C>G
c.58C>G (p.Leu20Val)
9g.134408218C>TCA375452282RXRAc.349C>T (p.Leu117Phe)
c.268C>T (p.Leu90Phe)
n.759C>T
c.58C>T (p.Leu20Phe)
9g.134408219T>ACA375452285RXRAc.350T>A (p.Leu117His)
c.269T>A (p.Leu90His)
n.760T>A
c.59T>A (p.Leu20His)
9g.134408219T>CCA375452308RXRAc.350T>C (p.Leu117Pro)
c.269T>C (p.Leu90Pro)
n.760T>C
c.59T>C (p.Leu20Pro)
9g.134408219T>GCA375452287RXRAc.350T>G (p.Leu117Arg)
c.269T>G (p.Leu90Arg)
n.760T>G
c.59T>G (p.Leu20Arg)
9g.134408220C>ACA467648659RXRAc.351C>A (p.Leu117=)
c.270C>A (p.Leu90=)
n.761C>A
c.60C>A (p.Leu20=)
9g.134408220C>GCA467648660RXRAc.351C>G (p.Leu117=)
c.270C>G (p.Leu90=)
n.761C>G
c.60C>G (p.Leu20=)
9g.134408220C>TCA467648662RXRAc.351C>T (p.Leu117=)
c.270C>T (p.Leu90=)
n.761C>T
c.60C>T (p.Leu20=)
9g.134408221A>CCA375452310RXRAc.352A>C (p.Lys118Gln)
c.271A>C (p.Lys91Gln)
n.762A>C
c.61A>C (p.Lys21Gln)
9g.134408221A>GCA375452313RXRAc.352A>G (p.Lys118Glu)
c.271A>G (p.Lys91Glu)
n.762A>G
c.61A>G (p.Lys21Glu)
9g.134408221A>TCA375452315RXRAc.352A>T (p.Lys118Ter)
c.271A>T (p.Lys91Ter)
n.762A>T
c.61A>T (p.Lys21Ter)
9g.134408222A>CCA375452319RXRAc.353A>C (p.Lys118Thr)
c.272A>C (p.Lys91Thr)
n.763A>C
c.62A>C (p.Lys21Thr)
9g.134408222A>GCA375452321RXRAc.353A>G (p.Lys118Arg)
c.272A>G (p.Lys91Arg)
n.763A>G
c.62A>G (p.Lys21Arg)
 dbSNP gnomAD v4
9g.134408222A>TCA375452324RXRAc.353A>T (p.Lys118Met)
c.272A>T (p.Lys91Met)
n.763A>T
c.62A>T (p.Lys21Met)
9g.134408223G>ACA467648675RXRAc.354G>A (p.Lys118=)
c.273G>A (p.Lys91=)
n.764G>A
c.63G>A (p.Lys21=)
 dbSNP
9g.134408223G>CCA375452327RXRAc.354G>C (p.Lys118Asn)
c.273G>C (p.Lys91Asn)
n.764G>C
c.63G>C (p.Lys21Asn)
9g.134408223G=CA1883176795RXRAc.354G= (p.Lys118=)
c.273G= (p.Lys91=)
n.764G=
c.63G= (p.Lys21=)
9g.134408223G>TCA375452330RXRAc.354G>T (p.Lys118Asn)
c.273G>T (p.Lys91Asn)
n.764G>T
c.63G>T (p.Lys21Asn)
9g.134408224G>ACA5317717RXRAc.355G>A (p.Val119Ile)
c.274G>A (p.Val92Ile)
n.765G>A
c.64G>A (p.Val22Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408224G>CCA375452337RXRAc.355G>C (p.Val119Leu)
c.274G>C (p.Val92Leu)
n.765G>C
c.64G>C (p.Val22Leu)
9g.134408224G=CA1883176796RXRAc.355G= (p.Val119=)
c.274G= (p.Val92=)
n.765G=
c.64G= (p.Val22=)
9g.134408224G>TCA375452340RXRAc.355G>T (p.Val119Phe)
c.274G>T (p.Val92Phe)
n.765G>T
c.64G>T (p.Val22Phe)
 dbSNP gnomAD v4
9g.134408225T>ACA375452352RXRAc.356T>A (p.Val119Asp)
c.275T>A (p.Val92Asp)
n.766T>A
c.65T>A (p.Val22Asp)
9g.134408225T>CCA375452349RXRAc.356T>C (p.Val119Ala)
c.275T>C (p.Val92Ala)
n.766T>C
c.65T>C (p.Val22Ala)
9g.134408225T>GCA375452342RXRAc.356T>G (p.Val119Gly)
c.275T>G (p.Val92Gly)
n.766T>G
c.65T>G (p.Val22Gly)
9g.134408226C>ACA467648700RXRAc.357C>A (p.Val119=)
c.276C>A (p.Val92=)
n.767C>A
c.66C>A (p.Val22=)
9g.134408226C>GCA467648695RXRAc.357C>G (p.Val119=)
c.276C>G (p.Val92=)
n.767C>G
c.66C>G (p.Val22=)
9g.134408226C>TCA467648708RXRAc.357C>T (p.Val119=)
c.276C>T (p.Val92=)
n.767C>T
c.66C>T (p.Val22=)
9g.134408227C>ACA375452355RXRAc.358C>A (p.Pro120Thr)
c.277C>A (p.Pro93Thr)
n.768C>A
c.67C>A (p.Pro23Thr)
9g.134408227C=CA1883176797RXRAc.358C= (p.Pro120=)
c.277C= (p.Pro93=)
n.768C=
c.67C= (p.Pro23=)
9g.134408227C>GCA375452358RXRAc.358C>G (p.Pro120Ala)
c.277C>G (p.Pro93Ala)
n.768C>G
c.67C>G (p.Pro23Ala)
9g.134408227C>TCA201084264RXRAc.358C>T (p.Pro120Ser)
c.277C>T (p.Pro93Ser)
n.768C>T
c.67C>T (p.Pro23Ser)
 dbSNP gnomAD v4
9g.134408228C>ACA375452363RXRAc.359C>A (p.Pro120His)
c.278C>A (p.Pro93His)
n.769C>A
c.68C>A (p.Pro23His)
9g.134408228C=CA1883176798RXRAc.359C= (p.Pro120=)
c.278C= (p.Pro93=)
n.769C=
c.68C= (p.Pro23=)
9g.134408228C>GCA375452366RXRAc.359C>G (p.Pro120Arg)
c.278C>G (p.Pro93Arg)
n.769C>G
c.68C>G (p.Pro23Arg)
9g.134408228C>TCA375452368RXRAc.359C>T (p.Pro120Leu)
c.278C>T (p.Pro93Leu)
n.769C>T
c.68C>T (p.Pro23Leu)
 dbSNP
9g.134408229C>ACA467648721RXRAc.360C>A (p.Pro120=)
c.279C>A (p.Pro93=)
n.770C>A
c.69C>A (p.Pro23=)
9g.134408229C=CA1883176799RXRAc.360C= (p.Pro120=)
c.279C= (p.Pro93=)
n.770C=
c.69C= (p.Pro23=)
9g.134408229C>GCA467648723RXRAc.360C>G (p.Pro120=)
c.279C>G (p.Pro93=)
n.770C>G
c.69C>G (p.Pro23=)
9g.134408229C>TCA5317718RXRAc.360C>T (p.Pro120=)
c.279C>T (p.Pro93=)
n.770C>T
c.69C>T (p.Pro23=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408230G>ACA5317719RXRAc.361G>A (p.Ala121Thr)
c.280G>A (p.Ala94Thr)
n.771G>A
c.70G>A (p.Ala24Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408230G>CCA375452375RXRAc.361G>C (p.Ala121Pro)
c.280G>C (p.Ala94Pro)
n.771G>C
c.70G>C (p.Ala24Pro)
 gnomAD v4
9g.134408230G=CA1883176800RXRAc.361G= (p.Ala121=)
c.280G= (p.Ala94=)
n.771G=
c.70G= (p.Ala24=)
9g.134408230G>TCA375452378RXRAc.361G>T (p.Ala121Ser)
c.280G>T (p.Ala94Ser)
n.771G>T
c.70G>T (p.Ala24Ser)
9g.134408231C>ACA375452380RXRAc.362C>A (p.Ala121Asp)
c.281C>A (p.Ala94Asp)
n.772C>A
c.71C>A (p.Ala24Asp)
9g.134408231C=CA1883176801RXRAc.362C= (p.Ala121=)
c.281C= (p.Ala94=)
n.772C=
c.71C= (p.Ala24=)
9g.134408231C>GCA375452382RXRAc.362C>G (p.Ala121Gly)
c.281C>G (p.Ala94Gly)
n.772C>G
c.71C>G (p.Ala24Gly)
9g.134408231C>TCA375452385RXRAc.362C>T (p.Ala121Val)
c.281C>T (p.Ala94Val)
n.772C>T
c.71C>T (p.Ala24Val)
 dbSNP gnomAD v2 gnomAD v4
9g.134408232C>ACA467648739RXRAc.363C>A (p.Ala121=)
c.282C>A (p.Ala94=)
n.773C>A
c.72C>A (p.Ala24=)
 gnomAD v4
9g.134408232C=CA1883176802RXRAc.363C= (p.Ala121=)
c.282C= (p.Ala94=)
n.773C=
c.72C= (p.Ala24=)
9g.134408232C>GCA467648741RXRAc.363C>G (p.Ala121=)
c.282C>G (p.Ala94=)
n.773C>G
c.72C>G (p.Ala24=)
9g.134408232C>TCA5317720RXRAc.363C>T (p.Ala121=)
c.282C>T (p.Ala94=)
n.773C>T
c.72C>T (p.Ala24=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408233C>ACA375452393RXRAc.364C>A (p.His122Asn)
c.283C>A (p.His95Asn)
n.774C>A
c.73C>A (p.His25Asn)
9g.134408233C>GCA375452391RXRAc.364C>G (p.His122Asp)
c.283C>G (p.His95Asp)
n.774C>G
c.73C>G (p.His25Asp)
9g.134408233C>TCA375452394RXRAc.364C>T (p.His122Tyr)
c.283C>T (p.His95Tyr)
n.774C>T
c.73C>T (p.His25Tyr)
9g.134408234A>CCA375452396RXRAc.365A>C (p.His122Pro)
c.284A>C (p.His95Pro)
n.775A>C
c.74A>C (p.His25Pro)
 gnomAD v4
9g.134408234A>GCA375452402RXRAc.365A>G (p.His122Arg)
c.284A>G (p.His95Arg)
n.775A>G
c.74A>G (p.His25Arg)
 gnomAD v4
9g.134408234A>TCA375452399RXRAc.365A>T (p.His122Leu)
c.284A>T (p.His95Leu)
n.775A>T
c.74A>T (p.His25Leu)
9g.134408235C>ACA375452406RXRAc.366C>A (p.His122Gln)
c.285C>A (p.His95Gln)
n.776C>A
c.75C>A (p.His25Gln)
9g.134408235C=CA1883176803RXRAc.366C= (p.His122=)
c.285C= (p.His95=)
n.776C=
c.75C= (p.His25=)
9g.134408235C>GCA375452410RXRAc.366C>G (p.His122Gln)
c.285C>G (p.His95Gln)
n.776C>G
c.75C>G (p.His25Gln)
9g.134408235C>TCA467648759RXRAc.366C>T (p.His122=)
c.285C>T (p.His95=)
n.776C>T
c.75C>T (p.His25=)
 dbSNP gnomAD v2 gnomAD v4
9g.134408236C>ACA375452412RXRAc.367C>A (p.Pro123Thr)
c.286C>A (p.Pro96Thr)
n.777C>A
c.76C>A (p.Pro26Thr)
9g.134408236C>GCA375452414RXRAc.367C>G (p.Pro123Ala)
c.286C>G (p.Pro96Ala)
n.777C>G
c.76C>G (p.Pro26Ala)
9g.134408236C>TCA375452415RXRAc.367C>T (p.Pro123Ser)
c.286C>T (p.Pro96Ser)
n.777C>T
c.76C>T (p.Pro26Ser)
 gnomAD v4
9g.134408237C>ACA375452418RXRAc.368C>A (p.Pro123His)
c.287C>A (p.Pro96His)
n.778C>A
c.77C>A (p.Pro26His)
9g.134408237C>GCA375452419RXRAc.368C>G (p.Pro123Arg)
c.287C>G (p.Pro96Arg)
n.778C>G
c.77C>G (p.Pro26Arg)
9g.134408237C>TCA375452422RXRAc.368C>T (p.Pro123Leu)
c.287C>T (p.Pro96Leu)
n.778C>T
c.77C>T (p.Pro26Leu)
9g.134408238C>ACA467648771RXRAc.369C>A (p.Pro123=)
c.288C>A (p.Pro96=)
n.779C>A
c.78C>A (p.Pro26=)
 gnomAD v4
9g.134408238C=CA1883176804RXRAc.369C= (p.Pro123=)
c.288C= (p.Pro96=)
n.779C=
c.78C= (p.Pro26=)
9g.134408238C>GCA467648773RXRAc.369C>G (p.Pro123=)
c.288C>G (p.Pro96=)
n.779C>G
c.78C>G (p.Pro26=)
 gnomAD v4
9g.134408238C>TCA467648775RXRAc.369C>T (p.Pro123=)
c.288C>T (p.Pro96=)
n.779C>T
c.78C>T (p.Pro26=)
 dbSNP gnomAD v2 gnomAD v4
9g.134408239T>ACA375452427RXRAc.370T>A (p.Ser124Thr)
c.289T>A (p.Ser97Thr)
n.780T>A
c.79T>A (p.Ser27Thr)
9g.134408239T>CCA375452429RXRAc.370T>C (p.Ser124Pro)
c.289T>C (p.Ser97Pro)
n.780T>C
c.79T>C (p.Ser27Pro)
9g.134408239T>GCA375452430RXRAc.370T>G (p.Ser124Ala)
c.289T>G (p.Ser97Ala)
n.780T>G
c.79T>G (p.Ser27Ala)
9g.134408240C>ACA375452441RXRAc.371C>A (p.Ser124Ter)
c.290C>A (p.Ser97Ter)
n.781C>A
c.80C>A (p.Ser27Ter)
9g.134408240C=CA1883176805RXRAc.371C= (p.Ser124=)
c.290C= (p.Ser97=)
n.781C=
c.80C= (p.Ser27=)
9g.134408240C>GCA375452436RXRAc.371C>G (p.Ser124Ter)
c.290C>G (p.Ser97Ter)
n.781C>G
c.80C>G (p.Ser27Ter)
9g.134408240C>TCA5317721RXRAc.371C>T (p.Ser124Leu)
c.290C>T (p.Ser97Leu)
n.781C>T
c.80C>T (p.Ser27Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408241A>CCA467648788RXRAc.372A>C (p.Ser124=)
c.291A>C (p.Ser97=)
n.782A>C
c.81A>C (p.Ser27=)
9g.134408241A>GCA467648790RXRAc.372A>G (p.Ser124=)
c.291A>G (p.Ser97=)
n.782A>G
c.81A>G (p.Ser27=)
9g.134408241A>TCA467648793RXRAc.372A>T (p.Ser124=)
c.291A>T (p.Ser97=)
n.782A>T
c.81A>T (p.Ser27=)
9g.134408242G>ACA375452443RXRAc.373G>A (p.Gly125Arg)
c.292G>A (p.Gly98Arg)
n.783G>A
c.82G>A (p.Gly28Arg)
9g.134408242G>CCA375452445RXRAc.373G>C (p.Gly125Arg)
c.292G>C (p.Gly98Arg)
n.783G>C
c.82G>C (p.Gly28Arg)
9g.134408242G>TCA375452448RXRAc.373G>T (p.Gly125Ter)
c.292G>T (p.Gly98Ter)
n.783G>T
c.82G>T (p.Gly28Ter)
9g.134408243G>ACA375452450RXRAc.374G>A (p.Gly125Glu)
c.293G>A (p.Gly98Glu)
n.784G>A
c.83G>A (p.Gly28Glu)
9g.134408243G>CCA375452452RXRAc.374G>C (p.Gly125Ala)
c.293G>C (p.Gly98Ala)
n.784G>C
c.83G>C (p.Gly28Ala)
 gnomAD v4
9g.134408243G>TCA375452455RXRAc.374G>T (p.Gly125Val)
c.293G>T (p.Gly98Val)
n.784G>T
c.83G>T (p.Gly28Val)
9g.134408244A=CA1883176806RXRAc.375A= (p.Gly125=)
c.294A= (p.Gly98=)
n.785A=
c.84A= (p.Gly28=)
9g.134408244A>CCA467648805RXRAc.375A>C (p.Gly125=)
c.294A>C (p.Gly98=)
n.785A>C
c.84A>C (p.Gly28=)
9g.134408244A>GCA467648809RXRAc.375A>G (p.Gly125=)
c.294A>G (p.Gly98=)
n.785A>G
c.84A>G (p.Gly28=)
 dbSNP
9g.134408244A>TCA467648806RXRAc.375A>T (p.Gly125=)
c.294A>T (p.Gly98=)
n.785A>T
c.84A>T (p.Gly28=)
9g.134408245A>CCA375452458RXRAc.376A>C (p.Asn126His)
c.295A>C (p.Asn99His)
n.786A>C
c.85A>C (p.Asn29His)
9g.134408245A>GCA375452460RXRAc.376A>G (p.Asn126Asp)
c.295A>G (p.Asn99Asp)
n.786A>G
c.85A>G (p.Asn29Asp)
9g.134408245A>TCA375452464RXRAc.376A>T (p.Asn126Tyr)
c.295A>T (p.Asn99Tyr)
n.786A>T
c.85A>T (p.Asn29Tyr)
9g.134408246A>CCA375452467RXRAc.377A>C (p.Asn126Thr)
c.296A>C (p.Asn99Thr)
n.787A>C
c.86A>C (p.Asn29Thr)
9g.134408246A>GCA375452470RXRAc.377A>G (p.Asn126Ser)
c.296A>G (p.Asn99Ser)
n.787A>G
c.86A>G (p.Asn29Ser)
 gnomAD v4
9g.134408246A>TCA375452475RXRAc.377A>T (p.Asn126Ile)
c.296A>T (p.Asn99Ile)
n.787A>T
c.86A>T (p.Asn29Ile)
9g.134408247C>ACA375452481RXRAc.378C>A (p.Asn126Lys)
c.297C>A (p.Asn99Lys)
n.788C>A
c.87C>A (p.Asn29Lys)
9g.134408247C>GCA375452478RXRAc.378C>G (p.Asn126Lys)
c.297C>G (p.Asn99Lys)
n.788C>G
c.87C>G (p.Asn29Lys)
9g.134408247C>TCA467648823RXRAc.378C>T (p.Asn126=)
c.297C>T (p.Asn99=)
n.788C>T
c.87C>T (p.Asn29=)

Number of alleles fetched