Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99583461A>CCA357502313MTTPc.337A>C (p.Lys113Gln)
c.88A>C (p.Lys30Gln)
c.367A>C (p.Lys123Gln)
c.418A>C (p.Lys140Gln)
c.*400A>C (n.*400A>C)
4g.99583461A>GCA357502311MTTPc.337A>G (p.Lys113Glu)
c.88A>G (p.Lys30Glu)
c.367A>G (p.Lys123Glu)
c.418A>G (p.Lys140Glu)
c.*400A>G (n.*400A>G)
4g.99583461A>TCA357502309MTTPc.337A>T (p.Lys113Ter)
c.88A>T (p.Lys30Ter)
c.367A>T (p.Lys123Ter)
c.418A>T (p.Lys140Ter)
c.*400A>T (n.*400A>T)
4g.99583462A>CCA357502315MTTPc.338A>C (p.Lys113Thr)
c.89A>C (p.Lys30Thr)
c.368A>C (p.Lys123Thr)
c.419A>C (p.Lys140Thr)
c.*401A>C (n.*401A>C)
4g.99583462A>GCA357502317MTTPc.338A>G (p.Lys113Arg)
c.89A>G (p.Lys30Arg)
c.368A>G (p.Lys123Arg)
c.419A>G (p.Lys140Arg)
c.*401A>G (n.*401A>G)
4g.99583462A>TCA357502319MTTPc.338A>T (p.Lys113Met)
c.89A>T (p.Lys30Met)
c.368A>T (p.Lys123Met)
c.419A>T (p.Lys140Met)
c.*401A>T (n.*401A>T)
4g.99583463G>ACA440328627MTTPc.339G>A (p.Lys113=)
c.90G>A (p.Lys30=)
c.369G>A (p.Lys123=)
c.420G>A (p.Lys140=)
c.*402G>A (n.*402G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99583463G>CCA357502321MTTPc.339G>C (p.Lys113Asn)
c.90G>C (p.Lys30Asn)
c.369G>C (p.Lys123Asn)
c.420G>C (p.Lys140Asn)
c.*402G>C (n.*402G>C)
4g.99583463G=CA1480066738MTTPc.339G= (p.Lys113=)
c.90G= (p.Lys30=)
c.369G= (p.Lys123=)
c.420G= (p.Lys140=)
c.*402G= (n.*402G=)
4g.99583463G>TCA357502322MTTPc.339G>T (p.Lys113Asn)
c.90G>T (p.Lys30Asn)
c.369G>T (p.Lys123Asn)
c.420G>T (p.Lys140Asn)
c.*402G>T (n.*402G>T)
4g.99583464G>ACA357502323MTTPc.340G>A (p.Glu114Lys)
c.91G>A (p.Glu31Lys)
c.370G>A (p.Glu124Lys)
c.421G>A (p.Glu141Lys)
c.*403G>A (n.*403G>A)
 COSMIC
4g.99583464G>CCA357502325MTTPc.340G>C (p.Glu114Gln)
c.91G>C (p.Glu31Gln)
c.370G>C (p.Glu124Gln)
c.421G>C (p.Glu141Gln)
c.*403G>C (n.*403G>C)
4g.99583464G>TCA357502327MTTPc.340G>T (p.Glu114Ter)
c.91G>T (p.Glu31Ter)
c.370G>T (p.Glu124Ter)
c.421G>T (p.Glu141Ter)
c.*403G>T (n.*403G>T)
4g.99583465A=CA1480066739MTTPc.341A= (p.Glu114=)
c.92A= (p.Glu31=)
c.371A= (p.Glu124=)
c.422A= (p.Glu141=)
c.*404A= (n.*404A=)
4g.99583465A>CCA357502329MTTPc.341A>C (p.Glu114Ala)
c.92A>C (p.Glu31Ala)
c.371A>C (p.Glu124Ala)
c.422A>C (p.Glu141Ala)
c.*404A>C (n.*404A>C)
4g.99583465A>GCA102617567MTTPc.341A>G (p.Glu114Gly)
c.92A>G (p.Glu31Gly)
c.371A>G (p.Glu124Gly)
c.422A>G (p.Glu141Gly)
c.*404A>G (n.*404A>G)
 ClinVar dbSNP
4g.99583465A>TCA357502332MTTPc.341A>T (p.Glu114Val)
c.92A>T (p.Glu31Val)
c.371A>T (p.Glu124Val)
c.422A>T (p.Glu141Val)
c.*404A>T (n.*404A>T)
4g.99583466A>CCA357502334MTTPc.342A>C (p.Glu114Asp)
c.93A>C (p.Glu31Asp)
c.372A>C (p.Glu124Asp)
c.423A>C (p.Glu141Asp)
c.*405A>C (n.*405A>C)
4g.99583466A>GCA440328628MTTPc.342A>G (p.Glu114=)
c.93A>G (p.Glu31=)
c.372A>G (p.Glu124=)
c.423A>G (p.Glu141=)
c.*405A>G (n.*405A>G)
4g.99583466A>TCA357502336MTTPc.342A>T (p.Glu114Asp)
c.93A>T (p.Glu31Asp)
c.372A>T (p.Glu124Asp)
c.423A>T (p.Glu141Asp)
c.*405A>T (n.*405A>T)
4g.99583467A>CCA357502342MTTPc.343A>C (p.Asn115His)
c.94A>C (p.Asn32His)
c.373A>C (p.Asn125His)
c.424A>C (p.Asn142His)
c.*406A>C (n.*406A>C)
4g.99583467A>GCA357502340MTTPc.343A>G (p.Asn115Asp)
c.94A>G (p.Asn32Asp)
c.373A>G (p.Asn125Asp)
c.424A>G (p.Asn142Asp)
c.*406A>G (n.*406A>G)
4g.99583467A>TCA357502338MTTPc.343A>T (p.Asn115Tyr)
c.94A>T (p.Asn32Tyr)
c.373A>T (p.Asn125Tyr)
c.424A>T (p.Asn142Tyr)
c.*406A>T (n.*406A>T)
4g.99583468A>CCA357502343MTTPc.344A>C (p.Asn115Thr)
c.95A>C (p.Asn32Thr)
c.374A>C (p.Asn125Thr)
c.425A>C (p.Asn142Thr)
c.*407A>C (n.*407A>C)
4g.99583468A>GCA357502345MTTPc.344A>G (p.Asn115Ser)
c.95A>G (p.Asn32Ser)
c.374A>G (p.Asn125Ser)
c.425A>G (p.Asn142Ser)
c.*407A>G (n.*407A>G)
4g.99583468A>TCA357502347MTTPc.344A>T (p.Asn115Ile)
c.95A>T (p.Asn32Ile)
c.374A>T (p.Asn125Ile)
c.425A>T (p.Asn142Ile)
c.*407A>T (n.*407A>T)
4g.99583469C>ACA357502349MTTPc.345C>A (p.Asn115Lys)
c.96C>A (p.Asn32Lys)
c.375C>A (p.Asn125Lys)
c.426C>A (p.Asn142Lys)
c.*408C>A (n.*408C>A)
4g.99583469C>GCA357502350MTTPc.345C>G (p.Asn115Lys)
c.96C>G (p.Asn32Lys)
c.375C>G (p.Asn125Lys)
c.426C>G (p.Asn142Lys)
c.*408C>G (n.*408C>G)
4g.99583469C>TCA440328629MTTPc.345C>T (p.Asn115=)
c.96C>T (p.Asn32=)
c.375C>T (p.Asn125=)
c.426C>T (p.Asn142=)
c.*408C>T (n.*408C>T)
4g.99583470T>ACA357502352MTTPc.346T>A (p.Leu116Met)
c.97T>A (p.Leu33Met)
c.376T>A (p.Leu126Met)
c.427T>A (p.Leu143Met)
c.*409T>A (n.*409T>A)
4g.99583470T>CCA3021805MTTPc.346T>C (p.Leu116=)
c.97T>C (p.Leu33=)
c.376T>C (p.Leu126=)
c.427T>C (p.Leu143=)
c.*409T>C (n.*409T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99583470T>GCA357502354MTTPc.346T>G (p.Leu116Val)
c.97T>G (p.Leu33Val)
c.376T>G (p.Leu126Val)
c.427T>G (p.Leu143Val)
c.*409T>G (n.*409T>G)
4g.99583470T=CA1480066740MTTPc.346T= (p.Leu116=)
c.97T= (p.Leu33=)
c.376T= (p.Leu126=)
c.427T= (p.Leu143=)
c.*409T= (n.*409T=)
4g.99583471T>ACA357502356MTTPc.347T>A (p.Leu116Ter)
c.98T>A (p.Leu33Ter)
c.377T>A (p.Leu126Ter)
c.428T>A (p.Leu143Ter)
c.*410T>A (n.*410T>A)
4g.99583471T>CCA3021806MTTPc.347T>C (p.Leu116Ser)
c.98T>C (p.Leu33Ser)
c.377T>C (p.Leu126Ser)
c.428T>C (p.Leu143Ser)
c.*410T>C (n.*410T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99583471T>GCA357502359MTTPc.347T>G (p.Leu116Trp)
c.98T>G (p.Leu33Trp)
c.377T>G (p.Leu126Trp)
c.428T>G (p.Leu143Trp)
c.*410T>G (n.*410T>G)
4g.99583471T=CA1480066741MTTPc.347T= (p.Leu116=)
c.98T= (p.Leu33=)
c.377T= (p.Leu126=)
c.428T= (p.Leu143=)
c.*410T= (n.*410T=)
4g.99583472G>ACA440328630MTTPc.348G>A (p.Leu116=)
c.99G>A (p.Leu33=)
c.378G>A (p.Leu126=)
c.429G>A (p.Leu143=)
c.*411G>A (n.*411G>A)
4g.99583472G>CCA357502361MTTPc.348G>C (p.Leu116Phe)
c.99G>C (p.Leu33Phe)
c.378G>C (p.Leu126Phe)
c.429G>C (p.Leu143Phe)
c.*411G>C (n.*411G>C)
 gnomAD v4
4g.99583472G>TCA357502362MTTPc.348G>T (p.Leu116Phe)
c.99G>T (p.Leu33Phe)
c.378G>T (p.Leu126Phe)
c.429G>T (p.Leu143Phe)
c.*411G>T (n.*411G>T)
 dbSNP
4g.99583473G>ACA357502364MTTPc.349G>A (p.Glu117Lys)
c.100G>A (p.Glu34Lys)
c.379G>A (p.Glu127Lys)
c.430G>A (p.Glu144Lys)
c.*412G>A (n.*412G>A)
4g.99583473G>CCA357502366MTTPc.349G>C (p.Glu117Gln)
c.100G>C (p.Glu34Gln)
c.379G>C (p.Glu127Gln)
c.430G>C (p.Glu144Gln)
c.*412G>C (n.*412G>C)
 gnomAD v4
4g.99583473G>TCA357502363MTTPc.349G>T (p.Glu117Ter)
c.100G>T (p.Glu34Ter)
c.379G>T (p.Glu127Ter)
c.430G>T (p.Glu144Ter)
c.*412G>T (n.*412G>T)
4g.99583474A>CCA357502369MTTPc.350A>C (p.Glu117Ala)
c.101A>C (p.Glu34Ala)
c.380A>C (p.Glu127Ala)
c.431A>C (p.Glu144Ala)
c.*413A>C (n.*413A>C)
4g.99583474A>GCA357502370MTTPc.350A>G (p.Glu117Gly)
c.101A>G (p.Glu34Gly)
c.380A>G (p.Glu127Gly)
c.431A>G (p.Glu144Gly)
c.*413A>G (n.*413A>G)
4g.99583474A>TCA357502372MTTPc.350A>T (p.Glu117Val)
c.101A>T (p.Glu34Val)
c.380A>T (p.Glu127Val)
c.431A>T (p.Glu144Val)
c.*413A>T (n.*413A>T)
4g.99583475A>CCA357502375MTTPc.351A>C (p.Glu117Asp)
c.102A>C (p.Glu34Asp)
c.381A>C (p.Glu127Asp)
c.432A>C (p.Glu144Asp)
4g.99583475A>GCA440328631MTTPc.351A>G (p.Glu117=)
c.102A>G (p.Glu34=)
c.381A>G (p.Glu127=)
c.432A>G (p.Glu144=)
 dbSNP
4g.99583475A>TCA357502376MTTPc.351A>T (p.Glu117Asp)
c.102A>T (p.Glu34Asp)
c.381A>T (p.Glu127Asp)
c.432A>T (p.Glu144Asp)
4g.99583476G>ACA357502379MTTPc.352G>A (p.Ala118Thr)
c.103G>A (p.Ala35Thr)
c.382G>A (p.Ala128Thr)
c.433G>A (p.Ala145Thr)
 gnomAD v4
4g.99583476G>CCA357502381MTTPc.352G>C (p.Ala118Pro)
c.103G>C (p.Ala35Pro)
c.382G>C (p.Ala128Pro)
c.433G>C (p.Ala145Pro)
4g.99583476G=CA1480066742MTTPc.352G= (p.Ala118=)
c.103G= (p.Ala35=)
c.382G= (p.Ala128=)
c.433G= (p.Ala145=)
4g.99583476G>TCA3021807MTTPc.352G>T (p.Ala118Ser)
c.103G>T (p.Ala35Ser)
c.382G>T (p.Ala128Ser)
c.433G>T (p.Ala145Ser)
 dbSNP ExAC gnomAD v2
4g.99583477C>ACA357502384MTTPc.353C>A (p.Ala118Asp)
c.104C>A (p.Ala35Asp)
c.383C>A (p.Ala128Asp)
c.434C>A (p.Ala145Asp)
4g.99583477C>GCA357502386MTTPc.353C>G (p.Ala118Gly)
c.104C>G (p.Ala35Gly)
c.383C>G (p.Ala128Gly)
c.434C>G (p.Ala145Gly)
4g.99583477C>TCA357502388MTTPc.353C>T (p.Ala118Val)
c.104C>T (p.Ala35Val)
c.383C>T (p.Ala128Val)
c.434C>T (p.Ala145Val)
4g.99583478T>ACA440328632MTTPc.354T>A (p.Ala118=)
c.105T>A (p.Ala35=)
c.384T>A (p.Ala128=)
c.435T>A (p.Ala145=)
4g.99583478T>CCA3021808MTTPc.354T>C (p.Ala118=)
c.105T>C (p.Ala35=)
c.384T>C (p.Ala128=)
c.435T>C (p.Ala145=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99583478T>GCA440328633MTTPc.354T>G (p.Ala118=)
c.105T>G (p.Ala35=)
c.384T>G (p.Ala128=)
c.435T>G (p.Ala145=)
4g.99583478T=CA1480066743MTTPc.354T= (p.Ala118=)
c.105T= (p.Ala35=)
c.384T= (p.Ala128=)
c.435T= (p.Ala145=)
4g.99583479C>ACA357502394MTTPc.355C>A (p.Leu119Met)
c.106C>A (p.Leu36Met)
c.385C>A (p.Leu129Met)
c.436C>A (p.Leu146Met)
 dbSNP COSMIC
4g.99583479C=CA1480066744MTTPc.355C= (p.Leu119=)
c.106C= (p.Leu36=)
c.385C= (p.Leu129=)
c.436C= (p.Leu146=)
4g.99583479C>GCA357502391MTTPc.355C>G (p.Leu119Val)
c.106C>G (p.Leu36Val)
c.385C>G (p.Leu129Val)
c.436C>G (p.Leu146Val)
4g.99583479C>TCA440328634MTTPc.355C>T (p.Leu119=)
c.106C>T (p.Leu36=)
c.385C>T (p.Leu129=)
c.436C>T (p.Leu146=)
4g.99583480T>ACA357502396MTTPc.356T>A (p.Leu119Gln)
c.107T>A (p.Leu36Gln)
c.386T>A (p.Leu129Gln)
c.437T>A (p.Leu146Gln)
4g.99583480T>CCA357502398MTTPc.356T>C (p.Leu119Pro)
c.107T>C (p.Leu36Pro)
c.386T>C (p.Leu129Pro)
c.437T>C (p.Leu146Pro)
 dbSNP gnomAD v4
4g.99583480T>GCA357502399MTTPc.356T>G (p.Leu119Arg)
c.107T>G (p.Leu36Arg)
c.386T>G (p.Leu129Arg)
c.437T>G (p.Leu146Arg)
4g.99583480T=CA1480066745MTTPc.356T= (p.Leu119=)
c.107T= (p.Leu36=)
c.386T= (p.Leu129=)
c.437T= (p.Leu146=)
4g.99583481G>ACA440328635MTTPc.357G>A (p.Leu119=)
c.108G>A (p.Leu36=)
c.387G>A (p.Leu129=)
c.438G>A (p.Leu146=)
4g.99583481G>CCA440328636MTTPc.357G>C (p.Leu119=)
c.108G>C (p.Leu36=)
c.387G>C (p.Leu129=)
c.438G>C (p.Leu146=)
 gnomAD v4
4g.99583481G>TCA440328637MTTPc.357G>T (p.Leu119=)
c.108G>T (p.Leu36=)
c.387G>T (p.Leu129=)
c.438G>T (p.Leu146=)
4g.99583482C>ACA357502400MTTPc.358C>A (p.Gln120Lys)
c.109C>A (p.Gln37Lys)
c.388C>A (p.Gln130Lys)
c.439C>A (p.Gln147Lys)
 gnomAD v4
4g.99583482C=CA1480066747MTTPc.358C= (p.Gln120=)
c.109C= (p.Gln37=)
c.388C= (p.Gln130=)
c.439C= (p.Gln147=)
4g.99583482C>GCA357502402MTTPc.358C>G (p.Gln120Glu)
c.109C>G (p.Gln37Glu)
c.388C>G (p.Gln130Glu)
c.439C>G (p.Gln147Glu)
4g.99583482C>TCA357502404MTTPc.358C>T (p.Gln120Ter)
c.109C>T (p.Gln37Ter)
c.388C>T (p.Gln130Ter)
c.439C>T (p.Gln147Ter)
 ClinVar dbSNP
4g.99583482_99583483delinsCACA1480066746MTTPc.358_359delinsCA (p.Gln120=)
c.109_110delinsCA (p.Gln37=)
c.388_389delinsCA (p.Gln130=)
c.439_440delinsCA (p.Gln147=)
4g.99583483A>CCA357502406MTTPc.359A>C (p.Gln120Pro)
c.110A>C (p.Gln37Pro)
c.389A>C (p.Gln130Pro)
c.440A>C (p.Gln147Pro)
4g.99583483A>GCA357502408MTTPc.359A>G (p.Gln120Arg)
c.110A>G (p.Gln37Arg)
c.389A>G (p.Gln130Arg)
c.440A>G (p.Gln147Arg)
4g.99583483A>TCA357502410MTTPc.359A>T (p.Gln120Leu)
c.110A>T (p.Gln37Leu)
c.389A>T (p.Gln130Leu)
c.440A>T (p.Gln147Leu)
4g.99583485delCA800747554MTTPc.361del (p.Arg121AspfsTer7)
c.112del (p.Arg38AspfsTer7)
c.391del (p.Arg131AspfsTer7)
c.442del (p.Arg148AspfsTer7)
 dbSNP gnomAD v3 gnomAD v4
4g.99583484A>CCA357502412MTTPc.360A>C (p.Gln120His)
c.111A>C (p.Gln37His)
c.390A>C (p.Gln130His)
c.441A>C (p.Gln147His)
4g.99583484A>GCA440328638MTTPc.360A>G (p.Gln120=)
c.111A>G (p.Gln37=)
c.390A>G (p.Gln130=)
c.441A>G (p.Gln147=)
4g.99583484A>TCA357502414MTTPc.360A>T (p.Gln120His)
c.111A>T (p.Gln37His)
c.390A>T (p.Gln130His)
c.441A>T (p.Gln147His)
4g.99583485A>CCA440328639MTTPc.361A>C (p.Arg121=)
c.112A>C (p.Arg38=)
c.391A>C (p.Arg131=)
c.442A>C (p.Arg148=)
4g.99583485A>GCA357502416MTTPc.361A>G (p.Arg121Gly)
c.112A>G (p.Arg38Gly)
c.391A>G (p.Arg131Gly)
c.442A>G (p.Arg148Gly)
4g.99583485A>TCA357502418MTTPc.361A>T (p.Arg121Ter)
c.112A>T (p.Arg38Ter)
c.391A>T (p.Arg131Ter)
c.442A>T (p.Arg148Ter)
4g.99583486G>ACA357502422MTTPc.362G>A (p.Arg121Lys)
c.113G>A (p.Arg38Lys)
c.392G>A (p.Arg131Lys)
c.443G>A (p.Arg148Lys)
4g.99583486G>CCA357502424MTTPc.362G>C (p.Arg121Thr)
c.113G>C (p.Arg38Thr)
c.392G>C (p.Arg131Thr)
c.443G>C (p.Arg148Thr)
 gnomAD v4
4g.99583486G=CA1480066748MTTPc.362G= (p.Arg121=)
c.113G= (p.Arg38=)
c.392G= (p.Arg131=)
c.443G= (p.Arg148=)
4g.99583486G>TCA357502420MTTPc.362G>T (p.Arg121Ile)
c.113G>T (p.Arg38Ile)
c.392G>T (p.Arg131Ile)
c.443G>T (p.Arg148Ile)
 gnomAD v4
4g.99583487_99583493delCA2580071899MTTPc.363_369del (p.Arg121SerfsTer5)
c.114_120del (p.Arg38SerfsTer5)
c.393_399del (p.Arg131SerfsTer5)
c.444_450del (p.Arg148SerfsTer5)
 ClinVar
4g.99583486_99583487insTTTCA1065939237MTTPc.362_363insTTT (p.Arg121delinsSerLeu)
c.113_114insTTT (p.Arg38delinsSerLeu)
c.392_393insTTT (p.Arg131delinsSerLeu)
c.443_444insTTT (p.Arg148delinsSerLeu)
 dbSNP gnomAD v3 gnomAD v4
4g.99583487A=CA1480066749MTTPc.363A= (p.Arg121=)
c.114A= (p.Arg38=)
c.393A= (p.Arg131=)
c.444A= (p.Arg148=)
4g.99583487A>CCA357502428MTTPc.363A>C (p.Arg121Ser)
c.114A>C (p.Arg38Ser)
c.393A>C (p.Arg131Ser)
c.444A>C (p.Arg148Ser)
4g.99583487A>GCA440328640MTTPc.363A>G (p.Arg121=)
c.114A>G (p.Arg38=)
c.393A>G (p.Arg131=)
c.444A>G (p.Arg148=)
4g.99583487A>TCA357502426MTTPc.363A>T (p.Arg121Ser)
c.114A>T (p.Arg38Ser)
c.393A>T (p.Arg131Ser)
c.444A>T (p.Arg148Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.99583488C>ACA357502432MTTPc.364C>A (p.Pro122Thr)
c.115C>A (p.Pro39Thr)
c.394C>A (p.Pro132Thr)
c.445C>A (p.Pro149Thr)
4g.99583488C>GCA357502430MTTPc.364C>G (p.Pro122Ala)
c.115C>G (p.Pro39Ala)
c.394C>G (p.Pro132Ala)
c.445C>G (p.Pro149Ala)
 gnomAD v4
4g.99583488C>TCA357502431MTTPc.364C>T (p.Pro122Ser)
c.115C>T (p.Pro39Ser)
c.394C>T (p.Pro132Ser)
c.445C>T (p.Pro149Ser)
 gnomAD v4
4g.99583489C>ACA357502433MTTPc.365C>A (p.Pro122His)
c.116C>A (p.Pro39His)
c.395C>A (p.Pro132His)
c.446C>A (p.Pro149His)
4g.99583489C>GCA357502434MTTPc.365C>G (p.Pro122Arg)
c.116C>G (p.Pro39Arg)
c.395C>G (p.Pro132Arg)
c.446C>G (p.Pro149Arg)
4g.99583489C>TCA357502435MTTPc.365C>T (p.Pro122Leu)
c.116C>T (p.Pro39Leu)
c.395C>T (p.Pro132Leu)
c.446C>T (p.Pro149Leu)
4g.99583490_99583492dupCA2671532897MTTPc.366_368dup (p.Thr123_Leu124insThr)
c.117_119dup (p.Thr40_Leu41insThr)
c.396_398dup (p.Thr133_Leu134insThr)
c.447_449dup (p.Thr150_Leu151insThr)
 gnomAD v4
4g.99583490T>ACA440328641MTTPc.366T>A (p.Pro122=)
c.117T>A (p.Pro39=)
c.396T>A (p.Pro132=)
c.447T>A (p.Pro149=)
4g.99583490T>CCA440328642MTTPc.366T>C (p.Pro122=)
c.117T>C (p.Pro39=)
c.396T>C (p.Pro132=)
c.447T>C (p.Pro149=)
4g.99583490T>GCA440328643MTTPc.366T>G (p.Pro122=)
c.117T>G (p.Pro39=)
c.396T>G (p.Pro132=)
c.447T>G (p.Pro149=)
4g.99583491A=CA1480066750MTTPc.367A= (p.Thr123=)
c.118A= (p.Thr40=)
c.397A= (p.Thr133=)
c.448A= (p.Thr150=)
4g.99583491A>CCA357502436MTTPc.367A>C (p.Thr123Pro)
c.118A>C (p.Thr40Pro)
c.397A>C (p.Thr133Pro)
c.448A>C (p.Thr150Pro)
4g.99583491A>GCA3021809MTTPc.367A>G (p.Thr123Ala)
c.118A>G (p.Thr40Ala)
c.397A>G (p.Thr133Ala)
c.448A>G (p.Thr150Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583491A>TCA357502437MTTPc.367A>T (p.Thr123Ser)
c.118A>T (p.Thr40Ser)
c.397A>T (p.Thr133Ser)
c.448A>T (p.Thr150Ser)
4g.99583492C>ACA357502438MTTPc.368C>A (p.Thr123Lys)
c.119C>A (p.Thr40Lys)
c.398C>A (p.Thr133Lys)
c.449C>A (p.Thr150Lys)
4g.99583492C=CA1480066751MTTPc.368C= (p.Thr123=)
c.119C= (p.Thr40=)
c.398C= (p.Thr133=)
c.449C= (p.Thr150=)
4g.99583492C>GCA357502439MTTPc.368C>G (p.Thr123Arg)
c.119C>G (p.Thr40Arg)
c.398C>G (p.Thr133Arg)
c.449C>G (p.Thr150Arg)
4g.99583492C>TCA3021810MTTPc.368C>T (p.Thr123Met)
c.119C>T (p.Thr40Met)
c.398C>T (p.Thr133Met)
c.449C>T (p.Thr150Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.99583493G>ACA3021811MTTPc.369G>A (p.Thr123=)
c.120G>A (p.Thr40=)
c.399G>A (p.Thr133=)
c.450G>A (p.Thr150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583493G>CCA440328644MTTPc.369G>C (p.Thr123=)
c.120G>C (p.Thr40=)
c.399G>C (p.Thr133=)
c.450G>C (p.Thr150=)
4g.99583493G=CA1480066752MTTPc.369G= (p.Thr123=)
c.120G= (p.Thr40=)
c.399G= (p.Thr133=)
c.450G= (p.Thr150=)
4g.99583493G>TCA440328645MTTPc.369G>T (p.Thr123=)
c.120G>T (p.Thr40=)
c.399G>T (p.Thr133=)
c.450G>T (p.Thr150=)
4g.99583494C>ACA357502442MTTPc.370C>A (p.Leu124Ile)
c.121C>A (p.Leu41Ile)
c.400C>A (p.Leu134Ile)
c.451C>A (p.Leu151Ile)
4g.99583494C>GCA357502441MTTPc.370C>G (p.Leu124Val)
c.121C>G (p.Leu41Val)
c.400C>G (p.Leu134Val)
c.451C>G (p.Leu151Val)
 gnomAD v4
4g.99583494C>TCA357502440MTTPc.370C>T (p.Leu124Phe)
c.121C>T (p.Leu41Phe)
c.400C>T (p.Leu134Phe)
c.451C>T (p.Leu151Phe)
4g.99583495T>ACA357502443MTTPc.371T>A (p.Leu124His)
c.122T>A (p.Leu41His)
c.401T>A (p.Leu134His)
c.452T>A (p.Leu151His)
4g.99583495T>CCA357502444MTTPc.371T>C (p.Leu124Pro)
c.122T>C (p.Leu41Pro)
c.401T>C (p.Leu134Pro)
c.452T>C (p.Leu151Pro)
4g.99583495T>GCA357502445MTTPc.371T>G (p.Leu124Arg)
c.122T>G (p.Leu41Arg)
c.401T>G (p.Leu134Arg)
c.452T>G (p.Leu151Arg)
4g.99583496C>ACA440328646MTTPc.372C>A (p.Leu124=)
c.123C>A (p.Leu41=)
c.402C>A (p.Leu134=)
c.453C>A (p.Leu151=)
4g.99583496C>GCA440328647MTTPc.372C>G (p.Leu124=)
c.123C>G (p.Leu41=)
c.402C>G (p.Leu134=)
c.453C>G (p.Leu151=)
4g.99583496C>TCA440328648MTTPc.372C>T (p.Leu124=)
c.123C>T (p.Leu41=)
c.402C>T (p.Leu134=)
c.453C>T (p.Leu151=)
4g.99583497delCA2499217352MTTPc.373del (p.Leu125PhefsTer3)
c.124del (p.Leu42PhefsTer3)
c.403del (p.Leu135PhefsTer3)
c.454del (p.Leu152PhefsTer3)
 ClinVar dbSNP gnomAD v4
4g.99583497C>ACA357502446MTTPc.373C>A (p.Leu125Ile)
c.124C>A (p.Leu42Ile)
c.403C>A (p.Leu135Ile)
c.454C>A (p.Leu152Ile)
4g.99583497C>GCA357502447MTTPc.373C>G (p.Leu125Val)
c.124C>G (p.Leu42Val)
c.403C>G (p.Leu135Val)
c.454C>G (p.Leu152Val)
4g.99583497C>TCA357502448MTTPc.373C>T (p.Leu125Phe)
c.124C>T (p.Leu42Phe)
c.403C>T (p.Leu135Phe)
c.454C>T (p.Leu152Phe)
4g.99583498T>ACA357502449MTTPc.374T>A (p.Leu125His)
c.125T>A (p.Leu42His)
c.404T>A (p.Leu135His)
c.455T>A (p.Leu152His)
4g.99583498T>CCA102617651MTTPc.374T>C (p.Leu125Pro)
c.125T>C (p.Leu42Pro)
c.404T>C (p.Leu135Pro)
c.455T>C (p.Leu152Pro)
 dbSNP
4g.99583498T>GCA357502450MTTPc.374T>G (p.Leu125Arg)
c.125T>G (p.Leu42Arg)
c.404T>G (p.Leu135Arg)
c.455T>G (p.Leu152Arg)
4g.99583498T=CA1480066753MTTPc.374T= (p.Leu125=)
c.125T= (p.Leu42=)
c.404T= (p.Leu135=)
c.455T= (p.Leu152=)
4g.99583499T>ACA440328651MTTPc.375T>A (p.Leu125=)
c.126T>A (p.Leu42=)
c.405T>A (p.Leu135=)
c.456T>A (p.Leu152=)
 gnomAD v4
4g.99583499T>CCA440328650MTTPc.375T>C (p.Leu125=)
c.126T>C (p.Leu42=)
c.405T>C (p.Leu135=)
c.456T>C (p.Leu152=)
4g.99583499T>GCA440328649MTTPc.375T>G (p.Leu125=)
c.126T>G (p.Leu42=)
c.405T>G (p.Leu135=)
c.456T>G (p.Leu152=)
 gnomAD v4
4g.99583500C>ACA357502451MTTPc.376C>A (p.His126Asn)
c.127C>A (p.His43Asn)
c.406C>A (p.His136Asn)
c.457C>A (p.His153Asn)
4g.99583500C>GCA357502452MTTPc.376C>G (p.His126Asp)
c.127C>G (p.His43Asp)
c.406C>G (p.His136Asp)
c.457C>G (p.His153Asp)
4g.99583500C>TCA357502453MTTPc.376C>T (p.His126Tyr)
c.127C>T (p.His43Tyr)
c.406C>T (p.His136Tyr)
c.457C>T (p.His153Tyr)
4g.99583501A=CA1480066754MTTPc.377A= (p.His126=)
c.128A= (p.His43=)
c.407A= (p.His136=)
c.458A= (p.His153=)
4g.99583501A>CCA357502456MTTPc.377A>C (p.His126Pro)
c.128A>C (p.His43Pro)
c.407A>C (p.His136Pro)
c.458A>C (p.His153Pro)
4g.99583501A>GCA357502455MTTPc.377A>G (p.His126Arg)
c.128A>G (p.His43Arg)
c.407A>G (p.His136Arg)
c.458A>G (p.His153Arg)
 ClinVar dbSNP gnomAD v4
4g.99583501A>TCA357502454MTTPc.377A>T (p.His126Leu)
c.128A>T (p.His43Leu)
c.407A>T (p.His136Leu)
c.458A>T (p.His153Leu)
4g.99583502T>ACA357502457MTTPc.378T>A (p.His126Gln)
c.129T>A (p.His43Gln)
c.408T>A (p.His136Gln)
c.459T>A (p.His153Gln)
4g.99583502T>CCA440328652MTTPc.378T>C (p.His126=)
c.129T>C (p.His43=)
c.408T>C (p.His136=)
c.459T>C (p.His153=)
 ClinVar dbSNP
4g.99583502T>GCA357502458MTTPc.378T>G (p.His126Gln)
c.129T>G (p.His43Gln)
c.408T>G (p.His136Gln)
c.459T>G (p.His153Gln)
4g.99583503C>ACA357502459MTTPc.379C>A (p.Leu127Ile)
c.130C>A (p.Leu44Ile)
c.409C>A (p.Leu137Ile)
c.460C>A (p.Leu154Ile)
 COSMIC
4g.99583503C>GCA357502460MTTPc.379C>G (p.Leu127Val)
c.130C>G (p.Leu44Val)
c.409C>G (p.Leu137Val)
c.460C>G (p.Leu154Val)
4g.99583503C>TCA440328653MTTPc.379C>T (p.Leu127=)
c.130C>T (p.Leu44=)
c.409C>T (p.Leu137=)
c.460C>T (p.Leu154=)
4g.99583504T>ACA357502461MTTPc.380T>A (p.Leu127Gln)
c.131T>A (p.Leu44Gln)
c.410T>A (p.Leu137Gln)
c.461T>A (p.Leu154Gln)
4g.99583504T>CCA357502462MTTPc.380T>C (p.Leu127Pro)
c.131T>C (p.Leu44Pro)
c.410T>C (p.Leu137Pro)
c.461T>C (p.Leu154Pro)
4g.99583504T>GCA357502463MTTPc.380T>G (p.Leu127Arg)
c.131T>G (p.Leu44Arg)
c.410T>G (p.Leu137Arg)
c.461T>G (p.Leu154Arg)
4g.99583505A>CCA440328654MTTPc.381A>C (p.Leu127=)
c.132A>C (p.Leu44=)
c.411A>C (p.Leu137=)
c.462A>C (p.Leu154=)
 COSMIC
4g.99583505A>GCA440328656MTTPc.381A>G (p.Leu127=)
c.132A>G (p.Leu44=)
c.411A>G (p.Leu137=)
c.462A>G (p.Leu154=)
 ClinVar
4g.99583505A>TCA440328655MTTPc.381A>T (p.Leu127=)
c.132A>T (p.Leu44=)
c.411A>T (p.Leu137=)
c.462A>T (p.Leu154=)
4g.99583506A>CCA357502464MTTPc.382A>C (p.Ile128Leu)
c.133A>C (p.Ile45Leu)
c.412A>C (p.Ile138Leu)
c.463A>C (p.Ile155Leu)
4g.99583506A>GCA357502466MTTPc.382A>G (p.Ile128Val)
c.133A>G (p.Ile45Val)
c.412A>G (p.Ile138Val)
c.463A>G (p.Ile155Val)
4g.99583506A>TCA357502465MTTPc.382A>T (p.Ile128Phe)
c.133A>T (p.Ile45Phe)
c.412A>T (p.Ile138Phe)
c.463A>T (p.Ile155Phe)
4g.99583507T>ACA357502467MTTPc.383T>A (p.Ile128Asn)
c.134T>A (p.Ile45Asn)
c.413T>A (p.Ile138Asn)
c.464T>A (p.Ile155Asn)
4g.99583507T>CCA123823MTTPc.383T>C (p.Ile128Thr)
c.134T>C (p.Ile45Thr)
c.413T>C (p.Ile138Thr)
c.464T>C (p.Ile155Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583507T>GCA357502468MTTPc.383T>G (p.Ile128Ser)
c.134T>G (p.Ile45Ser)
c.413T>G (p.Ile138Ser)
c.464T>G (p.Ile155Ser)
4g.99583507T=CA1480066755MTTPc.383T= (p.Ile128=)
c.134T= (p.Ile45=)
c.413T= (p.Ile138=)
c.464T= (p.Ile155=)
4g.99583508C>ACA440328657MTTPc.384C>A (p.Ile128=)
c.135C>A (p.Ile45=)
c.414C>A (p.Ile138=)
c.465C>A (p.Ile155=)
4g.99583508C>GCA357502469MTTPc.384C>G (p.Ile128Met)
c.135C>G (p.Ile45Met)
c.414C>G (p.Ile138Met)
c.465C>G (p.Ile155Met)
4g.99583508C>TCA440328658MTTPc.384C>T (p.Ile128=)
c.135C>T (p.Ile45=)
c.414C>T (p.Ile138=)
c.465C>T (p.Ile155=)
4g.99583509C>ACA357502470MTTPc.385C>A (p.His129Asn)
c.136C>A (p.His46Asn)
c.415C>A (p.His139Asn)
c.466C>A (p.His156Asn)
4g.99583509C=CA1480066756MTTPc.385C= (p.His129=)
c.136C= (p.His46=)
c.415C= (p.His139=)
c.466C= (p.His156=)
4g.99583509C>GCA357502472MTTPc.385C>G (p.His129Asp)
c.136C>G (p.His46Asp)
c.415C>G (p.His139Asp)
c.466C>G (p.His156Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99583509C>TCA357502471MTTPc.385C>T (p.His129Tyr)
c.136C>T (p.His46Tyr)
c.415C>T (p.His139Tyr)
c.466C>T (p.His156Tyr)
4g.99583510A>CCA357502473MTTPc.386A>C (p.His129Pro)
c.137A>C (p.His46Pro)
c.416A>C (p.His139Pro)
c.467A>C (p.His156Pro)
4g.99583510A>GCA357502474MTTPc.386A>G (p.His129Arg)
c.137A>G (p.His46Arg)
c.416A>G (p.His139Arg)
c.467A>G (p.His156Arg)
 gnomAD v4
4g.99583510A>TCA357502475MTTPc.386A>T (p.His129Leu)
c.137A>T (p.His46Leu)
c.416A>T (p.His139Leu)
c.467A>T (p.His156Leu)
4g.99583511T>ACA357502476MTTPc.387T>A (p.His129Gln)
c.138T>A (p.His46Gln)
c.417T>A (p.His139Gln)
c.468T>A (p.His156Gln)
4g.99583511T>CCA440328659MTTPc.387T>C (p.His129=)
c.138T>C (p.His46=)
c.417T>C (p.His139=)
c.468T>C (p.His156=)
 ClinVar dbSNP gnomAD v4
4g.99583511T>GCA357502477MTTPc.387T>G (p.His129Gln)
c.138T>G (p.His46Gln)
c.417T>G (p.His139Gln)
c.468T>G (p.His156Gln)
4g.99583512G>ACA357502478MTTPc.388G>A (p.Gly130Arg)
c.139G>A (p.Gly47Arg)
c.418G>A (p.Gly140Arg)
c.469G>A (p.Gly157Arg)
4g.99583512G>CCA357502479MTTPc.388G>C (p.Gly130Arg)
c.139G>C (p.Gly47Arg)
c.418G>C (p.Gly140Arg)
c.469G>C (p.Gly157Arg)
4g.99583512G>TCA357502480MTTPc.388G>T (p.Gly130Ter)
c.139G>T (p.Gly47Ter)
c.418G>T (p.Gly140Ter)
c.469G>T (p.Gly157Ter)
4g.99583513G>ACA357502481MTTPc.389G>A (p.Gly130Glu)
c.140G>A (p.Gly47Glu)
c.419G>A (p.Gly140Glu)
c.470G>A (p.Gly157Glu)
 dbSNP COSMIC
4g.99583513G>CCA357502482MTTPc.389G>C (p.Gly130Ala)
c.140G>C (p.Gly47Ala)
c.419G>C (p.Gly140Ala)
c.470G>C (p.Gly157Ala)
4g.99583513G=CA1480066757MTTPc.389G= (p.Gly130=)
c.140G= (p.Gly47=)
c.419G= (p.Gly140=)
c.470G= (p.Gly157=)
4g.99583513G>TCA357502483MTTPc.389G>T (p.Gly130Val)
c.140G>T (p.Gly47Val)
c.419G>T (p.Gly140Val)
c.470G>T (p.Gly157Val)
 gnomAD v4
4g.99583514A>CCA440328660MTTPc.390A>C (p.Gly130=)
c.141A>C (p.Gly47=)
c.420A>C (p.Gly140=)
c.471A>C (p.Gly157=)
4g.99583514A>GCA440328661MTTPc.390A>G (p.Gly130=)
c.141A>G (p.Gly47=)
c.420A>G (p.Gly140=)
c.471A>G (p.Gly157=)
 gnomAD v4
4g.99583514A>TCA440328662MTTPc.390A>T (p.Gly130=)
c.141A>T (p.Gly47=)
c.420A>T (p.Gly140=)
c.471A>T (p.Gly157=)
4g.99583515A>CCA357502486MTTPc.391A>C (p.Lys131Gln)
c.142A>C (p.Lys48Gln)
c.421A>C (p.Lys141Gln)
c.472A>C (p.Lys158Gln)
4g.99583515A>GCA357502485MTTPc.391A>G (p.Lys131Glu)
c.142A>G (p.Lys48Glu)
c.421A>G (p.Lys141Glu)
c.472A>G (p.Lys158Glu)
4g.99583515A>TCA357502484MTTPc.391A>T (p.Lys131Ter)
c.142A>T (p.Lys48Ter)
c.421A>T (p.Lys141Ter)
c.472A>T (p.Lys158Ter)
4g.99583516A>CCA357502487MTTPc.392A>C (p.Lys131Thr)
c.143A>C (p.Lys48Thr)
c.422A>C (p.Lys141Thr)
c.473A>C (p.Lys158Thr)
4g.99583516A>GCA357502488MTTPc.392A>G (p.Lys131Arg)
c.143A>G (p.Lys48Arg)
c.422A>G (p.Lys141Arg)
c.473A>G (p.Lys158Arg)
4g.99583516A>TCA357502489MTTPc.392A>T (p.Lys131Met)
c.143A>T (p.Lys48Met)
c.422A>T (p.Lys141Met)
c.473A>T (p.Lys158Met)
4g.99583517G>ACA440328663MTTPc.393G>A (p.Lys131=)
c.144G>A (p.Lys48=)
c.423G>A (p.Lys141=)
c.474G>A (p.Lys158=)
4g.99583517G>CCA357502490MTTPc.393G>C (p.Lys131Asn)
c.144G>C (p.Lys48Asn)
c.423G>C (p.Lys141Asn)
c.474G>C (p.Lys158Asn)
4g.99583517G>TCA357502491MTTPc.393G>T (p.Lys131Asn)
c.144G>T (p.Lys48Asn)
c.423G>T (p.Lys141Asn)
c.474G>T (p.Lys158Asn)
 COSMIC
4g.99583517_99583518insACA2762811615MTTPc.393_393+1insA (n.393_393+1insA)
c.144_144+1insA (n.144_144+1insA)
c.393_394insA (p.Val132SerfsTer27)
c.423_423+1insA (n.423_423+1insA)
c.474_474+1insA (n.474_474+1insA)
4g.99583518G>ACA357502494MTTPc.393+1G>A (n.393+1G>A)
c.144+1G>A (n.144+1G>A)
c.394G>A (p.Val132Ile)
c.423+1G>A (n.423+1G>A)
c.474+1G>A (n.474+1G>A)
 gnomAD v4
4g.99583518G>CCA357502493MTTPc.393+1G>C (n.393+1G>C)
c.144+1G>C (n.144+1G>C)
c.394G>C (p.Val132Leu)
c.423+1G>C (n.423+1G>C)
c.474+1G>C (n.474+1G>C)
 ClinVar
4g.99583518G>TCA357502492MTTPc.393+1G>T (n.393+1G>T)
c.144+1G>T (n.144+1G>T)
c.394G>T (p.Val132Leu)
c.423+1G>T (n.423+1G>T)
c.474+1G>T (n.474+1G>T)
4g.99583518_99583519insACTCA2762811626MTTPc.393+1_393+2insACT (n.393+1_393+2insACT)
c.144+1_144+2insACT (n.144+1_144+2insACT)
c.394_395insACT (p.Val132delinsAspLeu)
c.423+1_423+2insACT (n.423+1_423+2insACT)
c.474+1_474+2insACT (n.474+1_474+2insACT)
4g.99583519T>ACA357502495MTTPc.393+2T>A (n.393+2T>A)
c.144+2T>A (n.144+2T>A)
c.395T>A (p.Val132Glu)
c.423+2T>A (n.423+2T>A)
c.474+2T>A (n.474+2T>A)
4g.99583519T>CCA357502496MTTPc.393+2T>C (n.393+2T>C)
c.144+2T>C (n.144+2T>C)
c.395T>C (p.Val132Ala)
c.423+2T>C (n.423+2T>C)
c.474+2T>C (n.474+2T>C)
4g.99583519T>GCA357502497MTTPc.393+2T>G (n.393+2T>G)
c.144+2T>G (n.144+2T>G)
c.395T>G (p.Val132Gly)
c.423+2T>G (n.423+2T>G)
c.474+2T>G (n.474+2T>G)
4g.99583520A>TCA2695203711MTTPc.393+3A>T (n.393+3A>T)
c.144+3A>T (n.144+3A>T)
c.396A>T (p.Val132=)
c.423+3A>T (n.423+3A>T)
c.474+3A>T (n.474+3A>T)
4g.99583521A=CA1480066758MTTPc.393+4A= (n.393+4A=)
c.144+4A= (n.144+4A=)
c.397A= (p.Lys133=)
c.423+4A= (n.423+4A=)
c.474+4A= (n.474+4A=)
4g.99583521A>CCA357502498MTTPc.393+4A>C (n.393+4A>C)
c.144+4A>C (n.144+4A>C)
c.397A>C (p.Lys133Gln)
c.423+4A>C (n.423+4A>C)
c.474+4A>C (n.474+4A>C)
4g.99583521A>GCA357502499MTTPc.393+4A>G (n.393+4A>G)
c.144+4A>G (n.144+4A>G)
c.397A>G (p.Lys133Glu)
c.423+4A>G (n.423+4A>G)
c.474+4A>G (n.474+4A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99583521A>TCA357502500MTTPc.393+4A>T (n.393+4A>T)
c.144+4A>T (n.144+4A>T)
c.397A>T (p.Lys133Ter)
c.423+4A>T (n.423+4A>T)
c.474+4A>T (n.474+4A>T)
4g.99583522A=CA1480066759MTTPc.393+5A= (n.393+5A=)
c.144+5A= (n.144+5A=)
c.398A= (p.Lys133=)
c.423+5A= (n.423+5A=)
c.474+5A= (n.474+5A=)
4g.99583522A>CCA357502502MTTPc.393+5A>C (n.393+5A>C)
c.144+5A>C (n.144+5A>C)
c.398A>C (p.Lys133Thr)
c.423+5A>C (n.423+5A>C)
c.474+5A>C (n.474+5A>C)
4g.99583522A>GCA3021812MTTPc.393+5A>G (n.393+5A>G)
c.144+5A>G (n.144+5A>G)
c.398A>G (p.Lys133Arg)
c.423+5A>G (n.423+5A>G)
c.474+5A>G (n.474+5A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583522A>TCA357502501MTTPc.393+5A>T (n.393+5A>T)
c.144+5A>T (n.144+5A>T)
c.398A>T (p.Lys133Met)
c.423+5A>T (n.423+5A>T)
c.474+5A>T (n.474+5A>T)
4g.99583523G>CCA357502503MTTPc.393+6G>C (n.393+6G>C)
c.144+6G>C (n.144+6G>C)
c.399G>C (p.Lys133Asn)
c.423+6G>C (n.423+6G>C)
c.474+6G>C (n.474+6G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.99583523G=CA1480066760MTTPc.393+6G= (n.393+6G=)
c.144+6G= (n.144+6G=)
c.399G= (p.Lys133=)
c.423+6G= (n.423+6G=)
c.474+6G= (n.474+6G=)
4g.99583523G>TCA357502504MTTPc.393+6G>T (n.393+6G>T)
c.144+6G>T (n.144+6G>T)
c.399G>T (p.Lys133Asn)
c.423+6G>T (n.423+6G>T)
c.474+6G>T (n.474+6G>T)
4g.99583524_99583526delCA2578152163MTTPc.393+7_393+9del (n.393+7_393+9del)
c.144+7_144+9del (n.144+7_144+9del)
c.400_402del (p.Gly134del)
c.423+7_423+9del (n.423+7_423+9del)
c.474+7_474+9del (n.474+7_474+9del)
 ClinVar gnomAD v4
4g.99583523_99583524insACACA2762811639MTTPc.393+6_393+7insACA (n.393+6_393+7insACA)
c.144+6_144+7insACA (n.144+6_144+7insACA)
c.399_400insACA (p.Lys133_Gly134insThr)
c.423+6_423+7insACA (n.423+6_423+7insACA)
c.474+6_474+7insACA (n.474+6_474+7insACA)
4g.99583524G>ACA3021813MTTPc.393+7G>A (n.393+7G>A)
c.144+7G>A (n.144+7G>A)
c.400G>A (p.Gly134Arg)
c.423+7G>A (n.423+7G>A)
c.474+7G>A (n.474+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583524G>CCA357502505MTTPc.393+7G>C (n.393+7G>C)
c.144+7G>C (n.144+7G>C)
c.400G>C (p.Gly134Arg)
c.423+7G>C (n.423+7G>C)
c.474+7G>C (n.474+7G>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99583524G=CA1480066762MTTPc.393+7G= (n.393+7G=)
c.144+7G= (n.144+7G=)
c.400G= (p.Gly134=)
c.423+7G= (n.423+7G=)
c.474+7G= (n.474+7G=)
4g.99583524G>TCA357502506MTTPc.393+7G>T (n.393+7G>T)
c.144+7G>T (n.144+7G>T)
c.400G>T (p.Gly134Trp)
c.423+7G>T (n.423+7G>T)
c.474+7G>T (n.474+7G>T)
 dbSNP gnomAD v2
4g.99583524_99583525insACACA2762811644MTTPc.393+7_393+8insACA (n.393+7_393+8insACA)
c.144+7_144+8insACA (n.144+7_144+8insACA)
c.400_401insACA (p.Gly134delinsAspArg)
c.423+7_423+8insACA (n.423+7_423+8insACA)
c.474+7_474+8insACA (n.474+7_474+8insACA)
4g.99583525G>ACA357502507MTTPc.393+8G>A (n.393+8G>A)
c.144+8G>A (n.144+8G>A)
c.401G>A (p.Gly134Glu)
c.423+8G>A (n.423+8G>A)
c.474+8G>A (n.474+8G>A)
 gnomAD v4
4g.99583525G>CCA357502508MTTPc.393+8G>C (n.393+8G>C)
c.144+8G>C (n.144+8G>C)
c.401G>C (p.Gly134Ala)
c.423+8G>C (n.423+8G>C)
c.474+8G>C (n.474+8G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.99583525G>TCA357502509MTTPc.393+8G>T (n.393+8G>T)
c.144+8G>T (n.144+8G>T)
c.401G>T (p.Gly134Val)
c.423+8G>T (n.423+8G>T)
c.474+8G>T (n.474+8G>T)
4g.99583526G>ACA3021814MTTPc.393+9G>A (n.393+9G>A)
c.144+9G>A (n.144+9G>A)
c.402G>A (p.Gly134=)
c.423+9G>A (n.423+9G>A)
c.474+9G>A (n.474+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99583526G=CA1480066765MTTPc.393+9G= (n.393+9G=)
c.144+9G= (n.144+9G=)
c.402G= (p.Gly134=)
c.423+9G= (n.423+9G=)
c.474+9G= (n.474+9G=)
4g.99583526G>TCA102617665MTTPc.393+9G>T (n.393+9G>T)
c.144+9G>T (n.144+9G>T)
c.402G>T (p.Gly134=)
c.423+9G>T (n.423+9G>T)
c.474+9G>T (n.474+9G>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99583527C>ACA3021816MTTPc.393+10C>A (n.393+10C>A)
c.144+10C>A (n.144+10C>A)
c.403C>A (p.Arg135Ser)
c.423+10C>A (n.423+10C>A)
c.474+10C>A (n.474+10C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99583527C=CA1480066767MTTPc.393+10C= (n.393+10C=)
c.144+10C= (n.144+10C=)
c.403C= (p.Arg135=)
c.423+10C= (n.423+10C=)
c.474+10C= (n.474+10C=)
4g.99583527C>GCA357502510MTTPc.393+10C>G (n.393+10C>G)
c.144+10C>G (n.144+10C>G)
c.403C>G (p.Arg135Gly)
c.423+10C>G (n.423+10C>G)
c.474+10C>G (n.474+10C>G)
4g.99583527C>TCA3021815MTTPc.393+10C>T (n.393+10C>T)
c.144+10C>T (n.144+10C>T)
c.403C>T (p.Arg135Cys)
c.423+10C>T (n.423+10C>T)
c.474+10C>T (n.474+10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583527_99583528insACACA2762811650MTTPc.393+10_393+11insACA (n.393+10_393+11insACA)
c.144+10_144+11insACA (n.144+10_144+11insACA)
c.403_404insACA (p.Arg135delinsHisSer)
c.423+10_423+11insACA (n.423+10_423+11insACA)
c.474+10_474+11insACA (n.474+10_474+11insACA)
4g.99583528G>ACA3021817MTTPc.393+11G>A (n.393+11G>A)
c.144+11G>A (n.144+11G>A)
c.404G>A (p.Arg135His)
c.423+11G>A (n.423+11G>A)
c.474+11G>A (n.474+11G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583528G>CCA357502512MTTPc.393+11G>C (n.393+11G>C)
c.144+11G>C (n.144+11G>C)
c.404G>C (p.Arg135Pro)
c.423+11G>C (n.423+11G>C)
c.474+11G>C (n.474+11G>C)
4g.99583528G=CA1480066771MTTPc.393+11G= (n.393+11G=)
c.144+11G= (n.144+11G=)
c.404G= (p.Arg135=)
c.423+11G= (n.423+11G=)
c.474+11G= (n.474+11G=)
4g.99583528G>TCA357502511MTTPc.393+11G>T (n.393+11G>T)
c.144+11G>T (n.144+11G>T)
c.404G>T (p.Arg135Leu)
c.423+11G>T (n.423+11G>T)
c.474+11G>T (n.474+11G>T)
4g.99583530T>ACA357502513MTTPc.393+13T>A (n.393+13T>A)
c.144+13T>A (n.144+13T>A)
c.406T>A (p.Leu136Ile)
c.423+13T>A (n.423+13T>A)
c.474+13T>A (n.474+13T>A)
4g.99583530T>GCA357502514MTTPc.393+13T>G (n.393+13T>G)
c.144+13T>G (n.144+13T>G)
c.406T>G (p.Leu136Val)
c.423+13T>G (n.423+13T>G)
c.474+13T>G (n.474+13T>G)
4g.99583531T>ACA357502515MTTPc.393+14T>A (n.393+14T>A)
c.144+14T>A (n.144+14T>A)
c.407T>A (p.Leu136Ter)
c.423+14T>A (n.423+14T>A)
c.474+14T>A (n.474+14T>A)
4g.99583531T>CCA357502516MTTPc.393+14T>C (n.393+14T>C)
c.144+14T>C (n.144+14T>C)
c.407T>C (p.Leu136Ser)
c.423+14T>C (n.423+14T>C)
c.474+14T>C (n.474+14T>C)
4g.99583531T>GCA357502517MTTPc.393+14T>G (n.393+14T>G)
c.144+14T>G (n.144+14T>G)
c.407T>G (p.Leu136Ter)
c.423+14T>G (n.423+14T>G)
c.474+14T>G (n.474+14T>G)
4g.99583532A>CCA357502518MTTPc.393+15A>C (n.393+15A>C)
c.144+15A>C (n.144+15A>C)
c.408A>C (p.Leu136Phe)
c.423+15A>C (n.423+15A>C)
c.474+15A>C (n.474+15A>C)
4g.99583532A>TCA357502519MTTPc.393+15A>T (n.393+15A>T)
c.144+15A>T (n.144+15A>T)
c.408A>T (p.Leu136Phe)
c.423+15A>T (n.423+15A>T)
c.474+15A>T (n.474+15A>T)
4g.99583533G>ACA357502520MTTPc.393+16G>A (n.393+16G>A)
c.144+16G>A (n.144+16G>A)
c.409G>A (p.Asp137Asn)
c.423+16G>A (n.423+16G>A)
c.474+16G>A (n.474+16G>A)
4g.99583533G>CCA357502521MTTPc.393+16G>C (n.393+16G>C)
c.144+16G>C (n.144+16G>C)
c.409G>C (p.Asp137His)
c.423+16G>C (n.423+16G>C)
c.474+16G>C (n.474+16G>C)
 gnomAD v4
4g.99583533G>TCA357502522MTTPc.393+16G>T (n.393+16G>T)
c.144+16G>T (n.144+16G>T)
c.409G>T (p.Asp137Tyr)
c.423+16G>T (n.423+16G>T)
c.474+16G>T (n.474+16G>T)
4g.99583534A>CCA357502523MTTPc.393+17A>C (n.393+17A>C)
c.144+17A>C (n.144+17A>C)
c.410A>C (p.Asp137Ala)
c.423+17A>C (n.423+17A>C)
c.474+17A>C (n.474+17A>C)
4g.99583534A>GCA357502524MTTPc.393+17A>G (n.393+17A>G)
c.144+17A>G (n.144+17A>G)
c.410A>G (p.Asp137Gly)
c.423+17A>G (n.423+17A>G)
c.474+17A>G (n.474+17A>G)
 ClinVar dbSNP
4g.99583534A>TCA357502525MTTPc.393+17A>T (n.393+17A>T)
c.144+17A>T (n.144+17A>T)
c.410A>T (p.Asp137Val)
c.423+17A>T (n.423+17A>T)
c.474+17A>T (n.474+17A>T)
4g.99583535T>ACA357502527MTTPc.393+18T>A (n.393+18T>A)
c.144+18T>A (n.144+18T>A)
c.411T>A (p.Asp137Glu)
c.423+18T>A (n.423+18T>A)
c.474+18T>A (n.474+18T>A)
4g.99583535T>GCA357502526MTTPc.393+18T>G (n.393+18T>G)
c.144+18T>G (n.144+18T>G)
c.411T>G (p.Asp137Glu)
c.423+18T>G (n.423+18T>G)
c.474+18T>G (n.474+18T>G)
4g.99583536T>ACA357502528MTTPc.393+19T>A (n.393+19T>A)
c.144+19T>A (n.144+19T>A)
c.412T>A (p.Ser138Thr)
c.423+19T>A (n.423+19T>A)
c.474+19T>A (n.474+19T>A)
4g.99583536T>CCA357502529MTTPc.393+19T>C (n.393+19T>C)
c.144+19T>C (n.144+19T>C)
c.412T>C (p.Ser138Pro)
c.423+19T>C (n.423+19T>C)
c.474+19T>C (n.474+19T>C)
4g.99583536T>GCA357502530MTTPc.393+19T>G (n.393+19T>G)
c.144+19T>G (n.144+19T>G)
c.412T>G (p.Ser138Ala)
c.423+19T>G (n.423+19T>G)
c.474+19T>G (n.474+19T>G)
 gnomAD v4
4g.99583537C>ACA357502531MTTPc.393+20C>A (n.393+20C>A)
c.144+20C>A (n.144+20C>A)
c.413C>A (p.Ser138Tyr)
c.423+20C>A (n.423+20C>A)
c.474+20C>A (n.474+20C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.99583537C=CA1480066778MTTPc.393+20C= (n.393+20C=)
c.144+20C= (n.144+20C=)
c.413C= (p.Ser138=)
c.423+20C= (n.423+20C=)
c.474+20C= (n.474+20C=)
4g.99583537C>GCA357502532MTTPc.393+20C>G (n.393+20C>G)
c.144+20C>G (n.144+20C>G)
c.413C>G (p.Ser138Cys)
c.423+20C>G (n.423+20C>G)
c.474+20C>G (n.474+20C>G)
 ClinVar
4g.99583537C>TCA357502533MTTPc.393+20C>T (n.393+20C>T)
c.144+20C>T (n.144+20C>T)
c.413C>T (p.Ser138Phe)
c.423+20C>T (n.423+20C>T)
c.474+20C>T (n.474+20C>T)
4g.99583540_99583541delCA2553108324MTTPc.393+23_393+24del (n.393+23_393+24del)
c.144+23_144+24del (n.144+23_144+24del)
c.416_417del (p.Thr139AsnfsTer19)
c.423+23_423+24del (n.423+23_423+24del)
c.474+23_474+24del (n.474+23_474+24del)
4g.99583539A>CCA357502534MTTPc.393+22A>C (n.393+22A>C)
c.144+22A>C (n.144+22A>C)
c.415A>C (p.Thr139Pro)
c.423+22A>C (n.423+22A>C)
c.474+22A>C (n.474+22A>C)
4g.99583539A>GCA357502535MTTPc.393+22A>G (n.393+22A>G)
c.144+22A>G (n.144+22A>G)
c.415A>G (p.Thr139Ala)
c.423+22A>G (n.423+22A>G)
c.474+22A>G (n.474+22A>G)
4g.99583539A>TCA357502536MTTPc.393+22A>T (n.393+22A>T)
c.144+22A>T (n.144+22A>T)
c.415A>T (p.Thr139Ser)
c.423+22A>T (n.423+22A>T)
c.474+22A>T (n.474+22A>T)
4g.99583540C>ACA357502537MTTPc.393+23C>A (n.393+23C>A)
c.144+23C>A (n.144+23C>A)
c.416C>A (p.Thr139Lys)
c.423+23C>A (n.423+23C>A)
c.474+23C>A (n.474+23C>A)
4g.99583540C>GCA357502538MTTPc.393+23C>G (n.393+23C>G)
c.144+23C>G (n.144+23C>G)
c.416C>G (p.Thr139Arg)
c.423+23C>G (n.423+23C>G)
c.474+23C>G (n.474+23C>G)
4g.99583540C>TCA357502539MTTPc.393+23C>T (n.393+23C>T)
c.144+23C>T (n.144+23C>T)
c.416C>T (p.Thr139Ile)
c.423+23C>T (n.423+23C>T)
c.474+23C>T (n.474+23C>T)
4g.99583542A>CCA357502542MTTPc.393+25A>C (n.393+25A>C)
c.144+25A>C (n.144+25A>C)
c.418A>C (p.Thr140Pro)
c.423+25A>C (n.423+25A>C)
c.474+25A>C (n.474+25A>C)
4g.99583542A>GCA357502541MTTPc.393+25A>G (n.393+25A>G)
c.144+25A>G (n.144+25A>G)
c.418A>G (p.Thr140Ala)
c.423+25A>G (n.423+25A>G)
c.474+25A>G (n.474+25A>G)
 gnomAD v4
4g.99583542A>TCA357502540MTTPc.393+25A>T (n.393+25A>T)
c.144+25A>T (n.144+25A>T)
c.418A>T (p.Thr140Ser)
c.423+25A>T (n.423+25A>T)
c.474+25A>T (n.474+25A>T)
4g.99583543C>ACA357502543MTTPc.393+26C>A (n.393+26C>A)
c.144+26C>A (n.144+26C>A)
c.419C>A (p.Thr140Asn)
c.423+26C>A (n.423+26C>A)
c.474+26C>A (n.474+26C>A)
 gnomAD v4
4g.99583543C>GCA357502545MTTPc.393+26C>G (n.393+26C>G)
c.144+26C>G (n.144+26C>G)
c.419C>G (p.Thr140Ser)
c.423+26C>G (n.423+26C>G)
c.474+26C>G (n.474+26C>G)
4g.99583543C>TCA357502544MTTPc.393+26C>T (n.393+26C>T)
c.144+26C>T (n.144+26C>T)
c.419C>T (p.Thr140Ile)
c.423+26C>T (n.423+26C>T)
c.474+26C>T (n.474+26C>T)
4g.99583544T>ACA553568471MTTPc.393+27T>A (n.393+27T>A)
c.144+27T>A (n.144+27T>A)
c.420T>A (p.Thr140=)
c.423+27T>A (n.423+27T>A)
c.474+27T>A (n.474+27T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.99583544T=CA1480066780MTTPc.393+27T= (n.393+27T=)
c.144+27T= (n.144+27T=)
c.420T= (p.Thr140=)
c.423+27T= (n.423+27T=)
c.474+27T= (n.474+27T=)
4g.99583545T>ACA357502546MTTPc.393+28T>A (n.393+28T>A)
c.144+28T>A (n.144+28T>A)
c.421T>A (p.Phe141Ile)
c.423+28T>A (n.423+28T>A)
c.474+28T>A (n.474+28T>A)
4g.99583545T>CCA357502548MTTPc.393+28T>C (n.393+28T>C)
c.144+28T>C (n.144+28T>C)
c.421T>C (p.Phe141Leu)
c.423+28T>C (n.423+28T>C)
c.474+28T>C (n.474+28T>C)
4g.99583545T>GCA357502547MTTPc.393+28T>G (n.393+28T>G)
c.144+28T>G (n.144+28T>G)
c.421T>G (p.Phe141Val)
c.423+28T>G (n.423+28T>G)
c.474+28T>G (n.474+28T>G)
4g.99583546T>ACA357502549MTTPc.393+29T>A (n.393+29T>A)
c.144+29T>A (n.144+29T>A)
c.422T>A (p.Phe141Tyr)
c.423+29T>A (n.423+29T>A)
c.474+29T>A (n.474+29T>A)
4g.99583546T>CCA357502551MTTPc.393+29T>C (n.393+29T>C)
c.144+29T>C (n.144+29T>C)
c.422T>C (p.Phe141Ser)
c.423+29T>C (n.423+29T>C)
c.474+29T>C (n.474+29T>C)
 gnomAD v4
4g.99583546T>GCA357502550MTTPc.393+29T>G (n.393+29T>G)
c.144+29T>G (n.144+29T>G)
c.422T>G (p.Phe141Cys)
c.423+29T>G (n.423+29T>G)
c.474+29T>G (n.474+29T>G)
4g.99583546_99583547insACA2762811652MTTPc.393+29_393+30insA (n.393+29_393+30insA)
c.144+29_144+30insA (n.144+29_144+30insA)
c.422_423insA (p.Phe141LeufsTer18)
c.423+29_423+30insA (n.423+29_423+30insA)
c.474+29_474+30insA (n.474+29_474+30insA)
4g.99583547T>ACA357502552MTTPc.393+30T>A (n.393+30T>A)
c.144+30T>A (n.144+30T>A)
c.423T>A (p.Phe141Leu)
c.423+30T>A (n.423+30T>A)
c.474+30T>A (n.474+30T>A)
4g.99583547T>GCA357502553MTTPc.393+30T>G (n.393+30T>G)
c.144+30T>G (n.144+30T>G)
c.423T>G (p.Phe141Leu)
c.423+30T>G (n.423+30T>G)
c.474+30T>G (n.474+30T>G)
 gnomAD v4
4g.99583547_99583553delCA2762811653MTTPc.393+30_393+36del (n.393+30_393+36del)
c.144+30_144+36del (n.144+30_144+36del)
c.423_429del (p.Phe141LeufsTer19)
c.423+30_423+36del (n.423+30_423+36del)
c.474+30_474+36del (n.474+30_474+36del)
4g.99583548T>ACA357502554MTTPc.393+31T>A (n.393+31T>A)
c.144+31T>A (n.144+31T>A)
c.424T>A (p.Ser142Thr)
c.423+31T>A (n.423+31T>A)
c.474+31T>A (n.474+31T>A)
4g.99583548T>CCA357502555MTTPc.393+31T>C (n.393+31T>C)
c.144+31T>C (n.144+31T>C)
c.424T>C (p.Ser142Pro)
c.423+31T>C (n.423+31T>C)
c.474+31T>C (n.474+31T>C)
4g.99583548T>GCA357502556MTTPc.393+31T>G (n.393+31T>G)
c.144+31T>G (n.144+31T>G)
c.424T>G (p.Ser142Ala)
c.423+31T>G (n.423+31T>G)
c.474+31T>G (n.474+31T>G)
4g.99583549C>ACA357502557MTTPc.393+32C>A (n.393+32C>A)
c.144+32C>A (n.144+32C>A)
c.425C>A (p.Ser142Tyr)
c.423+32C>A (n.423+32C>A)
c.474+32C>A (n.474+32C>A)
4g.99583549C>GCA357502558MTTPc.393+32C>G (n.393+32C>G)
c.144+32C>G (n.144+32C>G)
c.425C>G (p.Ser142Cys)
c.423+32C>G (n.423+32C>G)
c.474+32C>G (n.474+32C>G)
4g.99583549C>TCA357502559MTTPc.393+32C>T (n.393+32C>T)
c.144+32C>T (n.144+32C>T)
c.425C>T (p.Ser142Phe)
c.423+32C>T (n.423+32C>T)
c.474+32C>T (n.474+32C>T)
4g.99583549_99583550insACAGCA2762811655MTTPc.393+32_393+33insACAG (n.393+32_393+33insACAG)
c.144+32_144+33insACAG (n.144+32_144+33insACAG)
c.425_426insACAG (p.Pro143GlnfsTer17)
c.423+32_423+33insACAG (n.423+32_423+33insACAG)
c.474+32_474+33insACAG (n.474+32_474+33insACAG)
4g.99583551C>ACA357502560MTTPc.393+34C>A (n.393+34C>A)
c.144+34C>A (n.144+34C>A)
c.427C>A (p.Pro143Thr)
c.423+34C>A (n.423+34C>A)
c.474+34C>A (n.474+34C>A)
4g.99583551C=CA1480066783MTTPc.393+34C= (n.393+34C=)
c.144+34C= (n.144+34C=)
c.427C= (p.Pro143=)
c.423+34C= (n.423+34C=)
c.474+34C= (n.474+34C=)
4g.99583551C>GCA357502561MTTPc.393+34C>G (n.393+34C>G)
c.144+34C>G (n.144+34C>G)
c.427C>G (p.Pro143Ala)
c.423+34C>G (n.423+34C>G)
c.474+34C>G (n.474+34C>G)
4g.99583551C>TCA3021818MTTPc.393+34C>T (n.393+34C>T)
c.144+34C>T (n.144+34C>T)
c.427C>T (p.Pro143Ser)
c.423+34C>T (n.423+34C>T)
c.474+34C>T (n.474+34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99583552C>ACA357502562MTTPc.393+35C>A (n.393+35C>A)
c.144+35C>A (n.144+35C>A)
c.428C>A (p.Pro143Gln)
c.423+35C>A (n.423+35C>A)
c.474+35C>A (n.474+35C>A)
4g.99583552C=CA1480066787MTTPc.393+35C= (n.393+35C=)
c.144+35C= (n.144+35C=)
c.428C= (p.Pro143=)
c.423+35C= (n.423+35C=)
c.474+35C= (n.474+35C=)
4g.99583552C>GCA357502564MTTPc.393+35C>G (n.393+35C>G)
c.144+35C>G (n.144+35C>G)
c.428C>G (p.Pro143Arg)
c.423+35C>G (n.423+35C>G)
c.474+35C>G (n.474+35C>G)
4g.99583552C>TCA357502563MTTPc.393+35C>T (n.393+35C>T)
c.144+35C>T (n.144+35C>T)
c.428C>T (p.Pro143Leu)
c.423+35C>T (n.423+35C>T)
c.474+35C>T (n.474+35C>T)
 dbSNP gnomAD v4
4g.99583553A=CA1480066789MTTPc.393+36A= (n.393+36A=)
c.144+36A= (n.144+36A=)
c.429A= (p.Pro143=)
c.423+36A= (n.423+36A=)
c.474+36A= (n.474+36A=)
4g.99583553A>GCA553568472MTTPc.393+36A>G (n.393+36A>G)
c.144+36A>G (n.144+36A>G)
c.429A>G (p.Pro143=)
c.423+36A>G (n.423+36A>G)
c.474+36A>G (n.474+36A>G)
 dbSNP gnomAD v2
4g.99583554A>CCA357502565MTTPc.393+37A>C (n.393+37A>C)
c.144+37A>C (n.144+37A>C)
c.430A>C (p.Thr144Pro)
c.423+37A>C (n.423+37A>C)
c.474+37A>C (n.474+37A>C)
4g.99583554A>GCA357502566MTTPc.393+37A>G (n.393+37A>G)
c.144+37A>G (n.144+37A>G)
c.430A>G (p.Thr144Ala)
c.423+37A>G (n.423+37A>G)
c.474+37A>G (n.474+37A>G)
 gnomAD v4
4g.99583554A>TCA357502567MTTPc.393+37A>T (n.393+37A>T)
c.144+37A>T (n.144+37A>T)
c.430A>T (p.Thr144Ser)
c.423+37A>T (n.423+37A>T)
c.474+37A>T (n.474+37A>T)
4g.99583554_99583555insAGGCA2762811656MTTPc.393+37_393+38insAGG (n.393+37_393+38insAGG)
c.144+37_144+38insAGG (n.144+37_144+38insAGG)
c.430_431insAGG (p.Thr144delinsLysAla)
c.423+37_423+38insAGG (n.423+37_423+38insAGG)
c.474+37_474+38insAGG (n.474+37_474+38insAGG)
4g.99583555C>ACA357502568MTTPc.393+38C>A (n.393+38C>A)
c.144+38C>A (n.144+38C>A)
c.431C>A (p.Thr144Asn)
c.423+38C>A (n.423+38C>A)
c.474+38C>A (n.474+38C>A)
 gnomAD v4
4g.99583555C>GCA357502569MTTPc.393+38C>G (n.393+38C>G)
c.144+38C>G (n.144+38C>G)
c.431C>G (p.Thr144Ser)
c.423+38C>G (n.423+38C>G)
c.474+38C>G (n.474+38C>G)
4g.99583555C>TCA357502570MTTPc.393+38C>T (n.393+38C>T)
c.144+38C>T (n.144+38C>T)
c.431C>T (p.Thr144Ile)
c.423+38C>T (n.423+38C>T)
c.474+38C>T (n.474+38C>T)
4g.99583556T>GCA2671532898MTTPc.393+39T>G (n.393+39T>G)
c.144+39T>G (n.144+39T>G)
c.432T>G (p.Thr144=)
c.423+39T>G (n.423+39T>G)
c.474+39T>G (n.474+39T>G)
 gnomAD v4
4g.99583557T>ACA357502571MTTPc.393+40T>A (n.393+40T>A)
c.144+40T>A (n.144+40T>A)
c.433T>A (p.Ser145Thr)
c.423+40T>A (n.423+40T>A)
c.474+40T>A (n.474+40T>A)
4g.99583557T>CCA357502572MTTPc.393+40T>C (n.393+40T>C)
c.144+40T>C (n.144+40T>C)
c.433T>C (p.Ser145Pro)
c.423+40T>C (n.423+40T>C)
c.474+40T>C (n.474+40T>C)
 gnomAD v4
4g.99583557T>GCA102617738MTTPc.393+40T>G (n.393+40T>G)
c.144+40T>G (n.144+40T>G)
c.433T>G (p.Ser145Ala)
c.423+40T>G (n.423+40T>G)
c.474+40T>G (n.474+40T>G)
 dbSNP gnomAD v3 gnomAD v4
4g.99583557T=CA1480066795MTTPc.393+40T= (n.393+40T=)
c.144+40T= (n.144+40T=)
c.433T= (p.Ser145=)
c.423+40T= (n.423+40T=)
c.474+40T= (n.474+40T=)
4g.99583557_99583559delinsTCACA1480066794MTTPc.393+40_393+42delinsTCA (n.393+40_393+42delinsTCA)
c.144+40_144+42delinsTCA (n.144+40_144+42delinsTCA)
c.433_435delinsTCA (p.Ser145=)
c.423+40_423+42delinsTCA (n.423+40_423+42delinsTCA)
c.474+40_474+42delinsTCA (n.474+40_474+42delinsTCA)
4g.99583558C>ACA357502574MTTPc.393+41C>A (n.393+41C>A)
c.144+41C>A (n.144+41C>A)
c.434C>A (p.Ser145Ter)
c.423+41C>A (n.423+41C>A)
c.474+41C>A (n.474+41C>A)
4g.99583558C>GCA357502575MTTPc.393+41C>G (n.393+41C>G)
c.144+41C>G (n.144+41C>G)
c.434C>G (p.Ser145Ter)
c.423+41C>G (n.423+41C>G)
c.474+41C>G (n.474+41C>G)
4g.99583558C>TCA357502573MTTPc.393+41C>T (n.393+41C>T)
c.144+41C>T (n.144+41C>T)
c.434C>T (p.Ser145Leu)
c.423+41C>T (n.423+41C>T)
c.474+41C>T (n.474+41C>T)
4g.99583558_99583559delCA800747695MTTPc.393+41_393+42del (n.393+41_393+42del)
c.144+41_144+42del (n.144+41_144+42del)
c.434_435del (p.Ser145LeufsTer13)
c.423+41_423+42del (n.423+41_423+42del)
c.474+41_474+42del (n.474+41_474+42del)
 dbSNP gnomAD v3 gnomAD v4
4g.99583559A=CA1480066802MTTPc.393+42A= (n.393+42A=)
c.144+42A= (n.144+42A=)
c.435A= (p.Ser145=)
c.423+42A= (n.423+42A=)
c.474+42A= (n.474+42A=)
4g.99583559A>GCA2671532899MTTPc.393+42A>G (n.393+42A>G)
c.144+42A>G (n.144+42A>G)
c.435A>G (p.Ser145=)
c.423+42A>G (n.423+42A>G)
c.474+42A>G (n.474+42A>G)
 gnomAD v4
4g.99583559A>TCA553568473MTTPc.393+42A>T (n.393+42A>T)
c.144+42A>T (n.144+42A>T)
c.435A>T (p.Ser145=)
c.423+42A>T (n.423+42A>T)
c.474+42A>T (n.474+42A>T)
 dbSNP gnomAD v2 gnomAD v4
4g.99583560T>ACA357502576MTTPc.393+43T>A (n.393+43T>A)
c.144+43T>A (n.144+43T>A)
c.436T>A (p.Tyr146Asn)
c.423+43T>A (n.423+43T>A)
c.474+43T>A (n.474+43T>A)
 dbSNP gnomAD v2 gnomAD v4
4g.99583560T>CCA357502577MTTPc.393+43T>C (n.393+43T>C)
c.144+43T>C (n.144+43T>C)
c.436T>C (p.Tyr146His)
c.423+43T>C (n.423+43T>C)
c.474+43T>C (n.474+43T>C)
4g.99583560T>GCA357502578MTTPc.393+43T>G (n.393+43T>G)
c.144+43T>G (n.144+43T>G)
c.436T>G (p.Tyr146Asp)
c.423+43T>G (n.423+43T>G)
c.474+43T>G (n.474+43T>G)
4g.99583560T=CA1480066804MTTPc.393+43T= (n.393+43T=)
c.144+43T= (n.144+43T=)
c.436T= (p.Tyr146=)
c.423+43T= (n.423+43T=)
c.474+43T= (n.474+43T=)
4g.99583561A=CA1480066807MTTPc.393+44A= (n.393+44A=)
c.144+44A= (n.144+44A=)
c.437A= (p.Tyr146=)
c.423+44A= (n.423+44A=)
c.474+44A= (n.474+44A=)
4g.99583561A>CCA357502579MTTPc.393+44A>C (n.393+44A>C)
c.144+44A>C (n.144+44A>C)
c.437A>C (p.Tyr146Ser)
c.423+44A>C (n.423+44A>C)
c.474+44A>C (n.474+44A>C)
4g.99583561A>GCA102617739MTTPc.393+44A>G (n.393+44A>G)
c.144+44A>G (n.144+44A>G)
c.437A>G (p.Tyr146Cys)
c.423+44A>G (n.423+44A>G)
c.474+44A>G (n.474+44A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.99583561A>TCA357502580MTTPc.393+44A>T (n.393+44A>T)
c.144+44A>T (n.144+44A>T)
c.437A>T (p.Tyr146Phe)
c.423+44A>T (n.423+44A>T)
c.474+44A>T (n.474+44A>T)

Number of alleles fetched