Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230710734G>ACA1448385AGTc.90C>T (p.His30=)
n.601C>T
c.117C>T (p.His39=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710734G>CCA345207703AGTc.90C>G (p.His30Gln)
n.601C>G
c.117C>G (p.His39Gln)
1g.230710734G=CA1144110391AGTc.90C= (p.His30=)
n.601C=
c.117C= (p.His39=)
1g.230710734G>TCA345207704AGTc.90C>A (p.His30Gln)
n.601C>A
c.117C>A (p.His39Gln)
1g.230710735T>ACA345207708AGTc.89A>T (p.His30Leu)
n.600A>T
c.116A>T (p.His39Leu)
1g.230710735T>CCA38872445AGTc.89A>G (p.His30Arg)
n.600A>G
c.116A>G (p.His39Arg)
 dbSNP gnomAD v4
1g.230710735T>GCA345207706AGTc.89A>C (p.His30Pro)
n.600A>C
c.116A>C (p.His39Pro)
 dbSNP
1g.230710735T=CA1145147796AGTc.89A= (p.His30=)
n.600A=
c.116A= (p.His39=)
1g.230710736G>ACA345207711AGTc.88C>T (p.His30Tyr)
n.599C>T
c.115C>T (p.His39Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.230710736G>CCA345207712AGTc.88C>G (p.His30Asp)
n.599C>G
c.115C>G (p.His39Asp)
1g.230710736G=CA1226658845AGTc.88C= (p.His30=)
n.599C=
c.115C= (p.His39=)
1g.230710736G>TCA345207714AGTc.88C>A (p.His30Asn)
n.599C>A
c.115C>A (p.His39Asn)
1g.230710737T>ACA424037003AGTc.87A>T (p.Ile29=)
n.598A>T
c.114A>T (p.Ile38=)
1g.230710737T>CCA345207716AGTc.87A>G (p.Ile29Met)
n.598A>G
c.114A>G (p.Ile38Met)
1g.230710737T>GCA424037004AGTc.87A>C (p.Ile29=)
n.598A>C
c.114A>C (p.Ile38=)
 gnomAD v4
1g.230710738A>CCA345207718AGTc.86T>G (p.Ile29Arg)
n.597T>G
c.113T>G (p.Ile38Arg)
1g.230710738A>GCA345207720AGTc.86T>C (p.Ile29Thr)
n.597T>C
c.113T>C (p.Ile38Thr)
1g.230710738A>TCA345207722AGTc.86T>A (p.Ile29Lys)
n.597T>A
c.113T>A (p.Ile38Lys)
 COSMIC
1g.230710739T>ACA345207723AGTc.85A>T (p.Ile29Leu)
n.596A>T
c.112A>T (p.Ile38Leu)
1g.230710739T>CCA345207725AGTc.85A>G (p.Ile29Val)
n.596A>G
c.112A>G (p.Ile38Val)
 gnomAD v4
1g.230710739T>GCA38872450AGTc.85A>C (p.Ile29Leu)
n.596A>C
c.112A>C (p.Ile38Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.230710739T=CA1226658851AGTc.85A= (p.Ile29=)
n.596A=
c.112A= (p.Ile38=)
1g.230710739_230710740delinsTGCA1226658850AGTc.84_85delinsCA (p.Tyr28=)
n.595_596delinsCA
c.111_112delinsCA (p.Tyr37=)
1g.230710740delCA1013240076AGTc.84del (p.Tyr28Ter)
n.595del
c.111del (p.Tyr37Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.230710740G>ACA424037010AGTc.84C>T (p.Tyr28=)
n.595C>T
c.111C>T (p.Tyr37=)
 gnomAD v4 COSMIC
1g.230710740G>CCA345207727AGTc.84C>G (p.Tyr28Ter)
n.595C>G
c.111C>G (p.Tyr37Ter)
1g.230710740G>TCA345207728AGTc.84C>A (p.Tyr28Ter)
n.595C>A
c.111C>A (p.Tyr37Ter)
1g.230710741T>ACA345207733AGTc.83A>T (p.Tyr28Phe)
n.594A>T
c.110A>T (p.Tyr37Phe)
1g.230710741T>CCA345207734AGTc.83A>G (p.Tyr28Cys)
n.594A>G
c.110A>G (p.Tyr37Cys)
1g.230710741T>GCA345207731AGTc.83A>C (p.Tyr28Ser)
n.594A>C
c.110A>C (p.Tyr37Ser)
1g.230710742A>CCA345207736AGTc.82T>G (p.Tyr28Asp)
n.593T>G
c.109T>G (p.Tyr37Asp)
1g.230710742A>GCA345207738AGTc.82T>C (p.Tyr28His)
n.593T>C
c.109T>C (p.Tyr37His)
1g.230710742A>TCA345207740AGTc.82T>A (p.Tyr28Asn)
n.593T>A
c.109T>A (p.Tyr37Asn)
 gnomAD v4
1g.230710743C>ACA424037016AGTc.81G>T (p.Val27=)
n.592G>T
c.108G>T (p.Val36=)
1g.230710743C>GCA424037018AGTc.81G>C (p.Val27=)
n.592G>C
c.108G>C (p.Val36=)
1g.230710743C>TCA424037019AGTc.81G>A (p.Val27=)
n.592G>A
c.108G>A (p.Val36=)
1g.230710744A=CA1226658858AGTc.80T= (p.Val27=)
n.591T=
c.107T= (p.Val36=)
1g.230710744A>CCA345207741AGTc.80T>G (p.Val27Gly)
n.591T>G
c.107T>G (p.Val36Gly)
 dbSNP
1g.230710744A>GCA345207742AGTc.80T>C (p.Val27Ala)
n.591T>C
c.107T>C (p.Val36Ala)
1g.230710744A>TCA345207744AGTc.80T>A (p.Val27Glu)
n.591T>A
c.107T>A (p.Val36Glu)
1g.230710745C>ACA345207746AGTc.79G>T (p.Val27Leu)
n.590G>T
c.106G>T (p.Val36Leu)
1g.230710745C=CA1226658859AGTc.79G= (p.Val27=)
n.590G=
c.106G= (p.Val36=)
1g.230710745C>GCA345207749AGTc.79G>C (p.Val27Leu)
n.590G>C
c.106G>C (p.Val36Leu)
 dbSNP gnomAD v2 gnomAD v4
1g.230710745C>TCA345207748AGTc.79G>A (p.Val27Met)
n.590G>A
c.106G>A (p.Val36Met)
1g.230710746C>ACA424037026AGTc.78G>T (p.Arg26=)
n.589G>T
c.105G>T (p.Arg35=)
1g.230710746C>GCA424037027AGTc.78G>C (p.Arg26=)
n.589G>C
c.105G>C (p.Arg35=)
1g.230710746C>TCA424037029AGTc.78G>A (p.Arg26=)
n.589G>A
c.105G>A (p.Arg35=)
1g.230710747C>ACA345207752AGTc.77G>T (p.Arg26Leu)
n.588G>T
c.104G>T (p.Arg35Leu)
1g.230710747C=CA1226658864AGTc.77G= (p.Arg26=)
n.588G=
c.104G= (p.Arg35=)
1g.230710747C>GCA345207754AGTc.77G>C (p.Arg26Pro)
n.588G>C
c.104G>C (p.Arg35Pro)
1g.230710747C>TCA1448386AGTc.77G>A (p.Arg26Gln)
n.588G>A
c.104G>A (p.Arg35Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710748G>ACA1448387AGTc.76C>T (p.Arg26Trp)
n.587C>T
c.103C>T (p.Arg35Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710748G>CCA345207757AGTc.76C>G (p.Arg26Gly)
n.587C>G
c.103C>G (p.Arg35Gly)
1g.230710748G=CA1226658871AGTc.76C= (p.Arg26=)
n.587C=
c.103C= (p.Arg35=)
1g.230710748G>TCA424037032AGTc.76C>A (p.Arg26=)
n.587C>A
c.103C>A (p.Arg35=)
1g.230710749G>ACA424037035AGTc.75C>T (p.Asp25=)
n.586C>T
c.102C>T (p.Asp34=)
 gnomAD v4
1g.230710749G>CCA345207760AGTc.75C>G (p.Asp25Glu)
n.586C>G
c.102C>G (p.Asp34Glu)
1g.230710749G>TCA345207759AGTc.75C>A (p.Asp25Glu)
n.586C>A
c.102C>A (p.Asp34Glu)
1g.230710750T>ACA345207762AGTc.74A>T (p.Asp25Val)
n.585A>T
c.101A>T (p.Asp34Val)
1g.230710750T>CCA345207766AGTc.74A>G (p.Asp25Gly)
n.585A>G
c.101A>G (p.Asp34Gly)
1g.230710750T>GCA345207764AGTc.74A>C (p.Asp25Ala)
n.585A>C
c.101A>C (p.Asp34Ala)
1g.230710751C>ACA345207767AGTc.73G>T (p.Asp25Tyr)
n.584G>T
c.100G>T (p.Asp34Tyr)
 gnomAD v4
1g.230710751C>GCA345207768AGTc.73G>C (p.Asp25His)
n.584G>C
c.100G>C (p.Asp34His)
1g.230710751C>TCA345207770AGTc.73G>A (p.Asp25Asn)
n.584G>A
c.100G>A (p.Asp34Asn)
1g.230710752A=CA1226658878AGTc.72T= (p.Gly24=)
n.583T=
c.99T= (p.Gly33=)
1g.230710752A>CCA424037043AGTc.72T>G (p.Gly24=)
n.583T>G
c.99T>G (p.Gly33=)
 dbSNP
1g.230710752A>GCA424037044AGTc.72T>C (p.Gly24=)
n.583T>C
c.99T>C (p.Gly33=)
1g.230710752A>TCA424037046AGTc.72T>A (p.Gly24=)
n.583T>A
c.99T>A (p.Gly33=)
1g.230710752_230710753delinsACCA1226658874AGTc.71_72delinsGT (p.Gly24=)
n.582_583delinsGT
c.98_99delinsGT (p.Gly33=)
1g.230710753C>ACA345207772AGTc.71G>T (p.Gly24Val)
n.582G>T
c.98G>T (p.Gly33Val)
1g.230710753C>GCA345207774AGTc.71G>C (p.Gly24Ala)
n.582G>C
c.98G>C (p.Gly33Ala)
1g.230710753C>TCA345207775AGTc.71G>A (p.Gly24Asp)
n.582G>A
c.98G>A (p.Gly33Asp)
1g.230710754delCA1226658882AGTc.71del (p.Gly24ValfsTer?)
n.582del
c.98del (p.Gly33ValfsTer?)
 dbSNP
1g.230710754C>ACA345207777AGTc.70G>T (p.Gly24Cys)
n.581G>T
c.97G>T (p.Gly33Cys)
1g.230710754C=CA1226658884AGTc.70G= (p.Gly24=)
n.581G=
c.97G= (p.Gly33=)
1g.230710754C>GCA345207779AGTc.70G>C (p.Gly24Arg)
n.581G>C
c.97G>C (p.Gly33Arg)
1g.230710754C>TCA1448388AGTc.70G>A (p.Gly24Ser)
n.581G>A
c.97G>A (p.Gly33Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710755T>ACA424037051AGTc.69A>T (p.Ala23=)
n.580A>T
c.96A>T (p.Ala32=)
1g.230710755T>CCA424037055AGTc.69A>G (p.Ala23=)
n.580A>G
c.96A>G (p.Ala32=)
1g.230710755T>GCA424037052AGTc.69A>C (p.Ala23=)
n.580A>C
c.96A>C (p.Ala32=)
1g.230710756G>ACA345207781AGTc.68C>T (p.Ala23Val)
n.579C>T
c.95C>T (p.Ala32Val)
1g.230710756G>CCA345207783AGTc.68C>G (p.Ala23Gly)
n.579C>G
c.95C>G (p.Ala32Gly)
1g.230710756G>TCA345207785AGTc.68C>A (p.Ala23Glu)
n.579C>A
c.95C>A (p.Ala32Glu)
1g.230710757C>ACA345207791AGTc.67G>T (p.Ala23Ser)
n.578G>T
c.94G>T (p.Ala32Ser)
 dbSNP
1g.230710757C=CA1226658887AGTc.67G= (p.Ala23=)
n.578G=
c.94G= (p.Ala32=)
1g.230710757C>GCA345207789AGTc.67G>C (p.Ala23Pro)
n.578G>C
c.94G>C (p.Ala32Pro)
1g.230710757C>TCA345207787AGTc.67G>A (p.Ala23Thr)
n.578G>A
c.94G>A (p.Ala32Thr)
 gnomAD v4
1g.230710758A>CCA424037062AGTc.66T>G (p.Ala22=)
n.577T>G
c.93T>G (p.Ala31=)
1g.230710758A>GCA424037063AGTc.66T>C (p.Ala22=)
n.577T>C
c.93T>C (p.Ala31=)
 COSMIC
1g.230710758A>TCA424037064AGTc.66T>A (p.Ala22=)
n.577T>A
c.93T>A (p.Ala31=)
1g.230710759_230710760insAAGCA2650971419AGTc.66_67insTCT (p.Ala22_Ala23insSer)
n.577_578insTCT
c.93_94insTCT (p.Ala31_Ala32insSer)
 gnomAD v4
1g.230710759G>ACA345207792AGTc.65C>T (p.Ala22Val)
n.576C>T
c.92C>T (p.Ala31Val)
1g.230710759G>CCA1448389AGTc.65C>G (p.Ala22Gly)
n.576C>G
c.92C>G (p.Ala31Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710759G=CA1142335807AGTc.65C= (p.Ala22=)
n.576C=
c.92C= (p.Ala31=)
1g.230710759G>TCA345207795AGTc.65C>A (p.Ala22Asp)
n.576C>A
c.92C>A (p.Ala31Asp)
1g.230710759_230710760insAAGCTATACTCAGGAAAATCTGATGGGGACAAAAATCAATTGATTAATTAGCTCTTTATTATAAGCTTTAAATGGAAAAGAATCTATCA2650971420AGTc.64_65insATAGATTCTTTTCCATTTAAAGCTTATAATAAAGAGCTAATTAATCAATTGATTTTTGTCCCCATCAGATTTTCCTGAGTATAGCTT (p.Ala22AspfsTer7)
n.575_576insATAGATTCTTTTCCATTTAAAGCTTATAATAAAGAGCTAATTAATCAATTGATTTTTGTCCCCATCAGATTTTCCTGAGTATAGCTT
c.91_92insATAGATTCTTTTCCATTTAAAGCTTATAATAAAGAGCTAATTAATCAATTGATTTTTGTCCCCATCAGATTTTCCTGAGTATAGCTT (p.Ala31AspfsTer7)
 gnomAD v4
1g.230710760C>ACA345207796AGTc.64G>T (p.Ala22Ser)
n.575G>T
c.91G>T (p.Ala31Ser)
1g.230710760C=CA1226658896AGTc.64G= (p.Ala22=)
n.575G=
c.91G= (p.Ala31=)
1g.230710760C>GCA345207797AGTc.64G>C (p.Ala22Pro)
n.575G>C
c.91G>C (p.Ala31Pro)
1g.230710760C>TCA1448390AGTc.64G>A (p.Ala22Thr)
n.575G>A
c.91G>A (p.Ala31Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710760_230710761insTATACTCA2650971421AGTc.63_64insAGTATA (p.Leu21_Ala22insSerIle)
n.574_575insAGTATA
c.90_91insAGTATA (p.Leu30_Ala31insSerIle)
 gnomAD v4
1g.230710761C>ACA424037070AGTc.63G>T (p.Leu21=)
n.574G>T
c.90G>T (p.Leu30=)
1g.230710761C>GCA424037072AGTc.63G>C (p.Leu21=)
n.574G>C
c.90G>C (p.Leu30=)
1g.230710761C>TCA424037071AGTc.63G>A (p.Leu21=)
n.574G>A
c.90G>A (p.Leu30=)
1g.230710762A>CCA345207799AGTc.62T>G (p.Leu21Arg)
n.573T>G
c.89T>G (p.Leu30Arg)
1g.230710762A>GCA345207801AGTc.62T>C (p.Leu21Pro)
n.573T>C
c.89T>C (p.Leu30Pro)
 gnomAD v4
1g.230710762A>TCA345207803AGTc.62T>A (p.Leu21Gln)
n.573T>A
c.89T>A (p.Leu30Gln)
1g.230710763G>ACA424037077AGTc.61C>T (p.Leu21=)
n.572C>T
c.88C>T (p.Leu30=)
 dbSNP gnomAD v3 gnomAD v4
1g.230710763G>CCA345207804AGTc.61C>G (p.Leu21Val)
n.572C>G
c.88C>G (p.Leu30Val)
1g.230710763G=CA1226658898AGTc.61C= (p.Leu21=)
n.572C=
c.88C= (p.Leu30=)
1g.230710763G>TCA345207805AGTc.61C>A (p.Leu21Met)
n.572C>A
c.88C>A (p.Leu30Met)
1g.230710764G>ACA424037080AGTc.60C>T (p.Gly20=)
n.571C>T
c.87C>T (p.Gly29=)
1g.230710764G>CCA424037081AGTc.60C>G (p.Gly20=)
n.571C>G
c.87C>G (p.Gly29=)
1g.230710764G=CA1226658916AGTc.60C= (p.Gly20=)
n.571C=
c.87C= (p.Gly29=)
1g.230710764G>TCA1448391AGTc.60C>A (p.Gly20=)
n.571C>A
c.87C>A (p.Gly29=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710765C>ACA345207811AGTc.59G>T (p.Gly20Val)
n.570G>T
c.86G>T (p.Gly29Val)
1g.230710765C=CA1141936788AGTc.59G= (p.Gly20=)
n.570G=
c.86G= (p.Gly29=)
1g.230710765C>GCA345207809AGTc.59G>C (p.Gly20Ala)
n.570G>C
c.86G>C (p.Gly29Ala)
1g.230710765C>TCA1448392AGTc.59G>A (p.Gly20Asp)
n.570G>A
c.86G>A (p.Gly29Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710769_230710773dupCA2650971422AGTc.55_59dup (p.Ala23TrpfsTer?)
n.566_570dup
c.82_86dup (p.Ala32TrpfsTer?)
 gnomAD v4
1g.230710766C>ACA345207813AGTc.58G>T (p.Gly20Cys)
n.569G>T
c.85G>T (p.Gly29Cys)
1g.230710766C>GCA345207814AGTc.58G>C (p.Gly20Arg)
n.569G>C
c.85G>C (p.Gly29Arg)
1g.230710766C>TCA345207815AGTc.58G>A (p.Gly20Ser)
n.569G>A
c.85G>A (p.Gly29Ser)
1g.230710767A=CA1226658924AGTc.57T= (p.Ala19=)
n.568T=
c.84T= (p.Ala28=)
1g.230710767A>CCA424037086AGTc.57T>G (p.Ala19=)
n.568T>G
c.84T>G (p.Ala28=)
 dbSNP gnomAD v2 gnomAD v4
1g.230710767A>GCA424037087AGTc.57T>C (p.Ala19=)
n.568T>C
c.84T>C (p.Ala28=)
1g.230710767A>TCA424037089AGTc.57T>A (p.Ala19=)
n.568T>A
c.84T>A (p.Ala28=)
1g.230710768G>ACA345207817AGTc.56C>T (p.Ala19Val)
n.567C>T
c.83C>T (p.Ala28Val)
 dbSNP gnomAD v2 gnomAD v4
1g.230710768G>CCA345207819AGTc.56C>G (p.Ala19Gly)
n.567C>G
c.83C>G (p.Ala28Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.230710768G=CA1226658929AGTc.56C= (p.Ala19=)
n.567C=
c.83C= (p.Ala28=)
1g.230710768G>TCA345207820AGTc.56C>A (p.Ala19Asp)
n.567C>A
c.83C>A (p.Ala28Asp)
1g.230710769C>ACA345207825AGTc.55G>T (p.Ala19Ser)
n.566G>T
c.82G>T (p.Ala28Ser)
1g.230710769C=CA1226658932AGTc.55G= (p.Ala19=)
n.566G=
c.82G= (p.Ala28=)
1g.230710769C>GCA1448393AGTc.55G>C (p.Ala19Pro)
n.566G>C
c.82G>C (p.Ala28Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710769C>TCA345207823AGTc.55G>A (p.Ala19Thr)
n.566G>A
c.82G>A (p.Ala28Thr)
1g.230710770C>ACA345207827AGTc.54G>T (p.Trp18Cys)
n.565G>T
c.81G>T (p.Trp27Cys)
1g.230710770C>GCA345207829AGTc.54G>C (p.Trp18Cys)
n.565G>C
c.81G>C (p.Trp27Cys)
1g.230710770C>TCA345207831AGTc.54G>A (p.Trp18Ter)
n.565G>A
c.81G>A (p.Trp27Ter)
1g.230710771C>ACA345207833AGTc.53G>T (p.Trp18Leu)
n.564G>T
c.80G>T (p.Trp27Leu)
1g.230710771C>GCA345207834AGTc.53G>C (p.Trp18Ser)
n.564G>C
c.80G>C (p.Trp27Ser)
1g.230710771C>TCA345207836AGTc.53G>A (p.Trp18Ter)
n.564G>A
c.80G>A (p.Trp27Ter)
 ClinVar
1g.230710772A>CCA345207838AGTc.52T>G (p.Trp18Gly)
n.563T>G
c.79T>G (p.Trp27Gly)
1g.230710772A>GCA345207842AGTc.52T>C (p.Trp18Arg)
n.563T>C
c.79T>C (p.Trp27Arg)
 gnomAD v4
1g.230710772A>TCA345207840AGTc.52T>A (p.Trp18Arg)
n.563T>A
c.79T>A (p.Trp27Arg)
1g.230710773G>ACA424037092AGTc.51C>T (p.Ala17=)
n.562C>T
c.78C>T (p.Ala26=)
 gnomAD v4
1g.230710773G>CCA424037094AGTc.51C>G (p.Ala17=)
n.562C>G
c.78C>G (p.Ala26=)
1g.230710773G>TCA424037096AGTc.51C>A (p.Ala17=)
n.562C>A
c.78C>A (p.Ala26=)
1g.230710774G>ACA345207844AGTc.50C>T (p.Ala17Val)
n.561C>T
c.77C>T (p.Ala26Val)
1g.230710774G>CCA345207845AGTc.50C>G (p.Ala17Gly)
n.561C>G
c.77C>G (p.Ala26Gly)
1g.230710774G>TCA345207847AGTc.50C>A (p.Ala17Asp)
n.561C>A
c.77C>A (p.Ala26Asp)
1g.230710775C>ACA345207849AGTc.49G>T (p.Ala17Ser)
n.560G>T
c.76G>T (p.Ala26Ser)
1g.230710775C>GCA345207851AGTc.49G>C (p.Ala17Pro)
n.560G>C
c.76G>C (p.Ala26Pro)
1g.230710775C>TCA345207852AGTc.49G>A (p.Ala17Thr)
n.560G>A
c.76G>A (p.Ala26Thr)
1g.230710776C>ACA424037098AGTc.48G>T (p.Leu16=)
n.559G>T
c.75G>T (p.Leu25=)
1g.230710776C=CA1226658937AGTc.48G= (p.Leu16=)
n.559G=
c.75G= (p.Leu25=)
1g.230710776C>GCA424037099AGTc.48G>C (p.Leu16=)
n.559G>C
c.75G>C (p.Leu25=)
1g.230710776C>TCA424037100AGTc.48G>A (p.Leu16=)
n.559G>A
c.75G>A (p.Leu25=)
 dbSNP
1g.230710777A>CCA345207854AGTc.47T>G (p.Leu16Arg)
n.558T>G
c.74T>G (p.Leu25Arg)
1g.230710777A>GCA345207856AGTc.47T>C (p.Leu16Pro)
n.558T>C
c.74T>C (p.Leu25Pro)
 gnomAD v4
1g.230710777A>TCA345207857AGTc.47T>A (p.Leu16Gln)
n.558T>A
c.74T>A (p.Leu25Gln)
1g.230710778G>ACA424037104AGTc.46C>T (p.Leu16=)
n.557C>T
c.73C>T (p.Leu25=)
1g.230710778G>CCA345207859AGTc.46C>G (p.Leu16Val)
n.557C>G
c.73C>G (p.Leu25Val)
 dbSNP
1g.230710778G>TCA345207861AGTc.46C>A (p.Leu16Met)
n.557C>A
c.73C>A (p.Leu25Met)
1g.230710779delCA2574016144AGTc.46del (p.Leu16TrpfsTer?)
n.557del
c.73del (p.Leu25TrpfsTer?)
1g.230710779G>ACA424037105AGTc.45C>T (p.Leu15=)
n.556C>T
c.72C>T (p.Leu24=)
1g.230710779G>CCA424037106AGTc.45C>G (p.Leu15=)
n.556C>G
c.72C>G (p.Leu24=)
1g.230710779G>TCA424037107AGTc.45C>A (p.Leu15=)
n.556C>A
c.72C>A (p.Leu24=)
1g.230710780A>CCA345207863AGTc.44T>G (p.Leu15Arg)
n.555T>G
c.71T>G (p.Leu24Arg)
1g.230710780A>GCA345207865AGTc.44T>C (p.Leu15Pro)
n.555T>C
c.71T>C (p.Leu24Pro)
 gnomAD v4
1g.230710780A>TCA345207864AGTc.44T>A (p.Leu15His)
n.555T>A
c.71T>A (p.Leu24His)
1g.230710781G>ACA345207868AGTc.43C>T (p.Leu15Phe)
n.554C>T
c.70C>T (p.Leu24Phe)
1g.230710781G>CCA345207871AGTc.43C>G (p.Leu15Val)
n.554C>G
c.70C>G (p.Leu24Val)
1g.230710781G>TCA345207870AGTc.43C>A (p.Leu15Ile)
n.554C>A
c.70C>A (p.Leu24Ile)
1g.230710782delCA2650971423AGTc.43del (p.Leu15SerfsTer?)
n.554del
c.70del (p.Leu24SerfsTer?)
 gnomAD v4
1g.230710782G>ACA424037109AGTc.42C>T (p.Cys14=)
n.553C>T
c.69C>T (p.Cys23=)
1g.230710782G>CCA345207873AGTc.42C>G (p.Cys14Trp)
n.553C>G
c.69C>G (p.Cys23Trp)
1g.230710782G>TCA345207875AGTc.42C>A (p.Cys14Ter)
n.553C>A
c.69C>A (p.Cys23Ter)
 gnomAD v4
1g.230710783C>ACA345207877AGTc.41G>T (p.Cys14Phe)
n.552G>T
c.68G>T (p.Cys23Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.230710783C=CA1226658940AGTc.41G= (p.Cys14=)
n.552G=
c.68G= (p.Cys23=)
1g.230710783C>GCA1448394AGTc.41G>C (p.Cys14Ser)
n.552G>C
c.68G>C (p.Cys23Ser)
 dbSNP ExAC gnomAD v2
1g.230710783C>TCA345207878AGTc.41G>A (p.Cys14Tyr)
n.552G>A
c.68G>A (p.Cys23Tyr)
1g.230710784A>CCA345207881AGTc.40T>G (p.Cys14Gly)
n.551T>G
c.67T>G (p.Cys23Gly)
1g.230710784A>GCA345207884AGTc.40T>C (p.Cys14Arg)
n.551T>C
c.67T>C (p.Cys23Arg)
1g.230710784A>TCA345207883AGTc.40T>A (p.Cys14Ser)
n.551T>A
c.67T>A (p.Cys23Ser)
1g.230710785G>ACA423884029AGTc.39C>T (p.Leu13=)
n.550C>T
c.66C>T (p.Leu22=)
1g.230710785G>CCA423884032AGTc.39C>G (p.Leu13=)
n.550C>G
c.66C>G (p.Leu22=)
1g.230710785G>TCA423884033AGTc.39C>A (p.Leu13=)
n.550C>A
c.66C>A (p.Leu22=)
1g.230710786A>CCA345207886AGTc.38T>G (p.Leu13Arg)
n.549T>G
c.65T>G (p.Leu22Arg)
1g.230710786A>GCA345207889AGTc.38T>C (p.Leu13Pro)
n.549T>C
c.65T>C (p.Leu22Pro)
1g.230710786A>TCA345207888AGTc.38T>A (p.Leu13His)
n.549T>A
c.65T>A (p.Leu22His)
1g.230710787G>ACA1448395AGTc.37C>T (p.Leu13Phe)
n.548C>T
c.64C>T (p.Leu22Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710787G>CCA345207892AGTc.37C>G (p.Leu13Val)
n.548C>G
c.64C>G (p.Leu22Val)
1g.230710787G=CA1226658944AGTc.37C= (p.Leu13=)
n.548C=
c.64C= (p.Leu22=)
1g.230710787G>TCA345207894AGTc.37C>A (p.Leu13Ile)
n.548C>A
c.64C>A (p.Leu22Ile)
1g.230710788G>ACA423884036AGTc.36C>T (p.Ile12=)
n.547C>T
c.63C>T (p.Ile21=)
 dbSNP gnomAD v4
1g.230710788G>CCA345207896AGTc.36C>G (p.Ile12Met)
n.547C>G
c.63C>G (p.Ile21Met)
1g.230710788G=CA1226658949AGTc.36C= (p.Ile12=)
n.547C=
c.63C= (p.Ile21=)
1g.230710788G>TCA423884038AGTc.36C>A (p.Ile12=)
n.547C>A
c.63C>A (p.Ile21=)
1g.230710789A>CCA345207897AGTc.35T>G (p.Ile12Ser)
n.546T>G
c.62T>G (p.Ile21Ser)
1g.230710789A>GCA345207899AGTc.35T>C (p.Ile12Thr)
n.546T>C
c.62T>C (p.Ile21Thr)
1g.230710789A>TCA345207900AGTc.35T>A (p.Ile12Asn)
n.546T>A
c.62T>A (p.Ile21Asn)
1g.230710790T>ACA345207902AGTc.34A>T (p.Ile12Phe)
n.545A>T
c.61A>T (p.Ile21Phe)
1g.230710790T>CCA345207903AGTc.34A>G (p.Ile12Val)
n.545A>G
c.61A>G (p.Ile21Val)
1g.230710790T>GCA345207905AGTc.34A>C (p.Ile12Leu)
n.545A>C
c.61A>C (p.Ile21Leu)
1g.230710791G>ACA423884042AGTc.33C>T (p.Thr11=)
n.544C>T
c.60C>T (p.Thr20=)
1g.230710791G>CCA423884041AGTc.33C>G (p.Thr11=)
n.544C>G
c.60C>G (p.Thr20=)
1g.230710791G>TCA423884039AGTc.33C>A (p.Thr11=)
n.544C>A
c.60C>A (p.Thr20=)
1g.230710792G>ACA345207910AGTc.32C>T (p.Thr11Ile)
n.543C>T
c.59C>T (p.Thr20Ile)
1g.230710792G>CCA345207908AGTc.32C>G (p.Thr11Ser)
n.543C>G
c.59C>G (p.Thr20Ser)
1g.230710792G>TCA345207907AGTc.32C>A (p.Thr11Asn)
n.543C>A
c.59C>A (p.Thr20Asn)
1g.230710793T>ACA345207912AGTc.31A>T (p.Thr11Ser)
n.542A>T
c.58A>T (p.Thr20Ser)
1g.230710793T>CCA345207914AGTc.31A>G (p.Thr11Ala)
n.542A>G
c.58A>G (p.Thr20Ala)
1g.230710793T>GCA1448396AGTc.31A>C (p.Thr11Pro)
n.542A>C
c.58A>C (p.Thr20Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710793T=CA1140439370AGTc.31A= (p.Thr11=)
n.542A=
c.58A= (p.Thr20=)
1g.230710794G>ACA423884043AGTc.30C>T (p.Ala10=)
n.541C>T
c.57C>T (p.Ala19=)
 COSMIC
1g.230710794G>CCA423884044AGTc.30C>G (p.Ala10=)
n.541C>G
c.57C>G (p.Ala19=)
1g.230710794G>TCA423884045AGTc.30C>A (p.Ala10=)
n.541C>A
c.57C>A (p.Ala19=)
1g.230710795G>ACA345207917AGTc.29C>T (p.Ala10Val)
n.540C>T
c.56C>T (p.Ala19Val)
 gnomAD v4
1g.230710795G>CCA345207918AGTc.29C>G (p.Ala10Gly)
n.540C>G
c.56C>G (p.Ala19Gly)
1g.230710795G>TCA345207920AGTc.29C>A (p.Ala10Asp)
n.540C>A
c.56C>A (p.Ala19Asp)
1g.230710796C>ACA345207922AGTc.28G>T (p.Ala10Ser)
n.539G>T
c.55G>T (p.Ala19Ser)
1g.230710796C>GCA345207924AGTc.28G>C (p.Ala10Pro)
n.539G>C
c.55G>C (p.Ala19Pro)
 gnomAD v4
1g.230710796C>TCA345207925AGTc.28G>A (p.Ala10Thr)
n.539G>A
c.55G>A (p.Ala19Thr)
1g.230710797C>ACA345207926AGTc.27G>T (p.Arg9Ser)
n.538G>T
c.54G>T (p.Arg18Ser)
1g.230710797C>GCA345207928AGTc.27G>C (p.Arg9Ser)
n.538G>C
c.54G>C (p.Arg18Ser)
1g.230710797C>TCA423884046AGTc.27G>A (p.Arg9=)
n.538G>A
c.54G>A (p.Arg18=)
 gnomAD v4
1g.230710798C>ACA345207932AGTc.26G>T (p.Arg9Met)
n.537G>T
c.53G>T (p.Arg18Met)
1g.230710798C>GCA345207931AGTc.26G>C (p.Arg9Thr)
n.537G>C
c.53G>C (p.Arg18Thr)
1g.230710798C>TCA345207930AGTc.26G>A (p.Arg9Lys)
n.537G>A
c.53G>A (p.Arg18Lys)
1g.230710799T>ACA345207935AGTc.25A>T (p.Arg9Trp)
n.536A>T
c.52A>T (p.Arg18Trp)
1g.230710799T>CCA345207937AGTc.25A>G (p.Arg9Gly)
n.536A>G
c.52A>G (p.Arg18Gly)
1g.230710799T>GCA423884047AGTc.25A>C (p.Arg9=)
n.536A>C
c.52A>C (p.Arg18=)
1g.230710800C>ACA423884049AGTc.24G>T (p.Leu8=)
n.535G>T
c.51G>T (p.Leu17=)
1g.230710800C>GCA423884051AGTc.24G>C (p.Leu8=)
n.535G>C
c.51G>C (p.Leu17=)
1g.230710800C>TCA423884052AGTc.24G>A (p.Leu8=)
n.535G>A
c.51G>A (p.Leu17=)
 gnomAD v4
1g.230710801A>CCA345207938AGTc.23T>G (p.Leu8Arg)
n.534T>G
c.50T>G (p.Leu17Arg)
1g.230710801A>GCA345207940AGTc.23T>C (p.Leu8Pro)
n.534T>C
c.50T>C (p.Leu17Pro)
1g.230710801A>TCA345207942AGTc.23T>A (p.Leu8Gln)
n.534T>A
c.50T>A (p.Leu17Gln)
1g.230710802G>ACA423884054AGTc.22C>T (p.Leu8=)
n.533C>T
c.49C>T (p.Leu17=)
1g.230710802G>CCA345207944AGTc.22C>G (p.Leu8Val)
n.533C>G
c.49C>G (p.Leu17Val)
1g.230710802G>TCA345207945AGTc.22C>A (p.Leu8Met)
n.533C>A
c.49C>A (p.Leu17Met)
1g.230710803G>ACA1448397AGTc.21C>T (p.Ser7=)
n.532C>T
c.48C>T (p.Ser16=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710803G>CCA345207947AGTc.21C>G (p.Ser7Arg)
n.532C>G
c.48C>G (p.Ser16Arg)
1g.230710803G=CA1141825639AGTc.21C= (p.Ser7=)
n.532C=
c.48C= (p.Ser16=)
1g.230710803G>TCA345207949AGTc.21C>A (p.Ser7Arg)
n.532C>A
c.48C>A (p.Ser16Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.230710804C>ACA345207951AGTc.20G>T (p.Ser7Ile)
n.531G>T
c.47G>T (p.Ser16Ile)
1g.230710804C=CA1226658960AGTc.20G= (p.Ser7=)
n.531G=
c.47G= (p.Ser16=)
1g.230710804C>GCA345207952AGTc.20G>C (p.Ser7Thr)
n.531G>C
c.47G>C (p.Ser16Thr)
1g.230710804C>TCA38872506AGTc.20G>A (p.Ser7Asn)
n.531G>A
c.47G>A (p.Ser16Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.230710805T>ACA345207955AGTc.19A>T (p.Ser7Cys)
n.530A>T
c.46A>T (p.Ser16Cys)
 gnomAD v4
1g.230710805T>CCA345207958AGTc.19A>G (p.Ser7Gly)
n.530A>G
c.46A>G (p.Ser16Gly)
 gnomAD v4
1g.230710805T>GCA345207957AGTc.19A>C (p.Ser7Arg)
n.530A>C
c.46A>C (p.Ser16Arg)
1g.230710806C>ACA423884058AGTc.18G>T (p.Val6=)
n.529G>T
c.45G>T (p.Val15=)
1g.230710806C=CA1226658967AGTc.18G= (p.Val6=)
n.529G=
c.45G= (p.Val15=)
1g.230710806C>GCA423884059AGTc.18G>C (p.Val6=)
n.529G>C
c.45G>C (p.Val15=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710806C>TCA1448398AGTc.18G>A (p.Val6=)
n.529G>A
c.45G>A (p.Val15=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710807A>CCA345207962AGTc.17T>G (p.Val6Gly)
n.528T>G
c.44T>G (p.Val15Gly)
1g.230710807A>GCA345207964AGTc.17T>C (p.Val6Ala)
n.528T>C
c.44T>C (p.Val15Ala)
1g.230710807A>TCA345207965AGTc.17T>A (p.Val6Glu)
n.528T>A
c.44T>A (p.Val15Glu)
1g.230710808C>ACA345207967AGTc.16G>T (p.Val6Leu)
n.527G>T
c.43G>T (p.Val15Leu)
1g.230710808C>GCA345207968AGTc.16G>C (p.Val6Leu)
n.527G>C
c.43G>C (p.Val15Leu)
1g.230710808C>TCA345207969AGTc.16G>A (p.Val6Met)
n.527G>A
c.43G>A (p.Val15Met)
 gnomAD v3 gnomAD v4
1g.230710809A>CCA423884061AGTc.15T>G (p.Gly5=)
n.526T>G
c.42T>G (p.Gly14=)
1g.230710809A>GCA423884062AGTc.15T>C (p.Gly5=)
n.526T>C
c.42T>C (p.Gly14=)
 dbSNP
1g.230710809A>TCA423884063AGTc.15T>A (p.Gly5=)
n.526T>A
c.42T>A (p.Gly14=)
1g.230710810C>ACA345207971AGTc.14G>T (p.Gly5Val)
n.525G>T
c.41G>T (p.Gly14Val)
1g.230710810C=CA1226658969AGTc.14G= (p.Gly5=)
n.525G=
c.41G= (p.Gly14=)
1g.230710810C>GCA345207973AGTc.14G>C (p.Gly5Ala)
n.525G>C
c.41G>C (p.Gly14Ala)
 dbSNP
1g.230710810C>TCA345207975AGTc.14G>A (p.Gly5Asp)
n.525G>A
c.41G>A (p.Gly14Asp)
 gnomAD v4
1g.230710811delCA2650971424AGTc.14del (p.Gly5ValfsTer2)
n.525del
c.41del (p.Gly14ValfsTer2)
 gnomAD v4
1g.230710811C>ACA345207977AGTc.13G>T (p.Gly5Cys)
n.524G>T
c.40G>T (p.Gly14Cys)
 gnomAD v4
1g.230710811C=CA1144174870AGTc.13G= (p.Gly5=)
n.524G=
c.40G= (p.Gly14=)
1g.230710811C>GCA345207979AGTc.13G>C (p.Gly5Arg)
n.524G>C
c.40G>C (p.Gly14Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.230710811C>TCA1448399AGTc.13G>A (p.Gly5Ser)
n.524G>A
c.40G>A (p.Gly14Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710812G>ACA1448400AGTc.12C>T (p.Ala4=)
n.523C>T
c.39C>T (p.Ala13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710812G>CCA423884065AGTc.12C>G (p.Ala4=)
n.523C>G
c.39C>G (p.Ala13=)
1g.230710812G=CA1140727501AGTc.12C= (p.Ala4=)
n.523C=
c.39C= (p.Ala13=)
1g.230710812G>TCA423884066AGTc.12C>A (p.Ala4=)
n.523C>A
c.39C>A (p.Ala13=)
 gnomAD v4
1g.230710813G>ACA345207982AGTc.11C>T (p.Ala4Val)
n.522C>T
c.38C>T (p.Ala13Val)
 dbSNP gnomAD v2
1g.230710813G>CCA345207984AGTc.11C>G (p.Ala4Gly)
n.522C>G
c.38C>G (p.Ala13Gly)
1g.230710813G=CA1226658979AGTc.11C= (p.Ala4=)
n.522C=
c.38C= (p.Ala13=)
1g.230710813G>TCA345207986AGTc.11C>A (p.Ala4Asp)
n.522C>A
c.38C>A (p.Ala13Asp)
1g.230710814C>ACA345207987AGTc.10G>T (p.Ala4Ser)
n.521G>T
c.37G>T (p.Ala13Ser)
1g.230710814C=CA1226658981AGTc.10G= (p.Ala4=)
n.521G=
c.37G= (p.Ala13=)
1g.230710814C>GCA345207989AGTc.10G>C (p.Ala4Pro)
n.521G>C
c.37G>C (p.Ala13Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.230710814C>TCA38872536AGTc.10G>A (p.Ala4Thr)
n.521G>A
c.37G>A (p.Ala13Thr)
 ClinVar dbSNP
1g.230710815A>CCA423884069AGTc.9T>G (p.Pro3=)
n.520T>G
c.36T>G (p.Pro12=)
1g.230710815A>GCA423884068AGTc.9T>C (p.Pro3=)
n.520T>C
c.36T>C (p.Pro12=)
1g.230710815A>TCA423884067AGTc.9T>A (p.Pro3=)
n.520T>A
c.36T>A (p.Pro12=)
1g.230710816G>ACA345207991AGTc.8C>T (p.Pro3Leu)
n.519C>T
c.35C>T (p.Pro12Leu)
1g.230710816G>CCA345207993AGTc.8C>G (p.Pro3Arg)
n.519C>G
c.35C>G (p.Pro12Arg)
1g.230710816G>TCA345207995AGTc.8C>A (p.Pro3His)
n.519C>A
c.35C>A (p.Pro12His)
1g.230710817G>ACA345207997AGTc.7C>T (p.Pro3Ser)
n.518C>T
c.34C>T (p.Pro12Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.230710817G>CCA345207999AGTc.7C>G (p.Pro3Ala)
n.518C>G
c.34C>G (p.Pro12Ala)
1g.230710817G=CA1226658985AGTc.7C= (p.Pro3=)
n.518C=
c.34C= (p.Pro12=)
1g.230710817G>TCA345208001AGTc.7C>A (p.Pro3Thr)
n.518C>A
c.34C>A (p.Pro12Thr)
1g.230710818A=CA1226658988AGTc.6T= (p.Ala2=)
n.517T=
c.33T= (p.Ala11=)
1g.230710818A>CCA423884073AGTc.6T>G (p.Ala2=)
n.517T>G
c.33T>G (p.Ala11=)
1g.230710818A>GCA423884074AGTc.6T>C (p.Ala2=)
n.517T>C
c.33T>C (p.Ala11=)
 dbSNP
1g.230710818A>TCA423884075AGTc.6T>A (p.Ala2=)
n.517T>A
c.33T>A (p.Ala11=)
1g.230710819G>ACA345208006AGTc.5C>T (p.Ala2Val)
n.516C>T
c.32C>T (p.Ala11Val)
1g.230710819G>CCA345208005AGTc.5C>G (p.Ala2Gly)
n.516C>G
c.32C>G (p.Ala11Gly)
1g.230710819G>TCA345208003AGTc.5C>A (p.Ala2Asp)
n.516C>A
c.32C>A (p.Ala11Asp)
1g.230710820C>ACA345208008AGTc.4G>T (p.Ala2Ser)
n.515G>T
c.31G>T (p.Ala11Ser)
1g.230710820C=CA1226658994AGTc.4G= (p.Ala2=)
n.515G=
c.31G= (p.Ala11=)
1g.230710820C>GCA345208009AGTc.4G>C (p.Ala2Pro)
n.515G>C
c.31G>C (p.Ala11Pro)
1g.230710820C>TCA38872543AGTc.4G>A (p.Ala2Thr)
n.515G>A
c.31G>A (p.Ala11Thr)
 dbSNP gnomAD v4 COSMIC
1g.230710821C>ACA345208011AGTc.3G>T (p.Met1Ile)
n.514G>T
c.30G>T (p.Met10Ile)
1g.230710821C=CA1148403853AGTc.3G= (p.Met1=)
n.514G=
c.30G= (p.Met10=)
1g.230710821C>GCA345208012AGTc.3G>C (p.Met1Ile)
n.514G>C
c.30G>C (p.Met10Ile)
 gnomAD v4
1g.230710821C>TCA1448401AGTc.3G>A (p.Met1Ile)
n.514G>A
c.30G>A (p.Met10Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710822A>CCA345208013AGTc.2T>G (p.Met1Arg)
n.513T>G
c.29T>G (p.Met10Arg)
1g.230710822A>GCA345208014AGTc.2T>C (p.Met1Thr)
n.513T>C
c.29T>C (p.Met10Thr)
1g.230710822A>TCA345208016AGTc.2T>A (p.Met1Lys)
n.513T>A
c.29T>A (p.Met10Lys)
1g.230710823T>ACA1448402AGTc.1A>T (p.Met1Leu)
n.512A>T
c.28A>T (p.Met10Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710823T>CCA345208018AGTc.1A>G (p.Met1Val)
n.512A>G
c.28A>G (p.Met10Val)
1g.230710823T>GCA345208020AGTc.1A>C (p.Met1Leu)
n.512A>C
c.28A>C (p.Met10Leu)
1g.230710823T=CA1143355746AGTc.1A= (p.Met1=)
n.512A=
c.28A= (p.Met10=)
1g.230710824C>ACA345208023AGTc.-1G>T (n.-1G>T)
n.511G>T
c.27G>T (p.Glu9Asp)
1g.230710824C=CA1226659006AGTc.-1G= (n.-1G=)
n.511G=
c.27G= (p.Glu9=)
1g.230710824C>GCA38872550AGTc.-1G>C (n.-1G>C)
n.511G>C
c.27G>C (p.Glu9Asp)
 dbSNP gnomAD v3 gnomAD v4
1g.230710824C>TCA1448403AGTc.-1G>A (n.-1G>A)
n.511G>A
c.27G>A (p.Glu9=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710825T>ACA345208024AGTc.-2A>T (n.-2A>T)
n.510A>T
c.26A>T (p.Glu9Val)
1g.230710825T>CCA345208026AGTc.-2A>G (n.-2A>G)
n.510A>G
c.26A>G (p.Glu9Gly)
 COSMIC
1g.230710825T>GCA345208028AGTc.-2A>C (n.-2A>C)
n.510A>C
c.26A>C (p.Glu9Ala)
1g.230710826C>ACA345208030AGTc.-3G>T (n.-3G>T)
n.509G>T
c.25G>T (p.Glu9Ter)
1g.230710826C>GCA345208031AGTc.-3G>C (n.-3G>C)
n.509G>C
c.25G>C (p.Glu9Gln)
1g.230710826C>TCA345208033AGTc.-3G>A (n.-3G>A)
n.509G>A
c.25G>A (p.Glu9Lys)
1g.230710827A=CA1143537509AGTc.-4T= (n.-4T=)
n.508T=
c.24T= (p.Ser8=)
1g.230710827A>CCA423884080AGTc.-4T>G (n.-4T>G)
n.508T>G
c.24T>G (p.Ser8=)
1g.230710827A>GCA38872575AGTc.-4T>C (n.-4T>C)
n.508T>C
c.24T>C (p.Ser8=)
 dbSNP gnomAD v4
1g.230710827A>TCA423884081AGTc.-4T>A (n.-4T>A)
n.508T>A
c.24T>A (p.Ser8=)
1g.230710828G>ACA345208035AGTc.-5C>T (n.-5C>T)
n.507C>T
c.23C>T (p.Ser8Phe)
1g.230710828G>CCA345208037AGTc.-5C>G (n.-5C>G)
n.507C>G
c.23C>G (p.Ser8Cys)
1g.230710828G>TCA345208038AGTc.-5C>A (n.-5C>A)
n.507C>A
c.23C>A (p.Ser8Tyr)
1g.230710829A>CCA345208040AGTc.-6T>G (n.-6T>G)
n.506T>G
c.22T>G (p.Ser8Ala)
1g.230710829A>GCA345208041AGTc.-6T>C (n.-6T>C)
n.506T>C
c.22T>C (p.Ser8Pro)
1g.230710829A>TCA345208044AGTc.-6T>A (n.-6T>A)
n.506T>A
c.22T>A (p.Ser8Thr)
1g.230710830C>ACA1448404AGTc.-7G>T (n.-7G>T)
n.505G>T
c.21G>T (p.Gln7His)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710830C=CA1148719172AGTc.-7G= (n.-7G=)
n.505G=
c.21G= (p.Gln7=)
1g.230710830C>GCA345208046AGTc.-7G>C (n.-7G>C)
n.505G>C
c.21G>C (p.Gln7His)
1g.230710830C>TCA1448405AGTc.-7G>A (n.-7G>A)
n.505G>A
c.21G>A (p.Gln7=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.230710831T>ACA345208049AGTc.-8A>T (n.-8A>T)
n.504A>T
c.20A>T (p.Gln7Leu)
 gnomAD v4
1g.230710831T>CCA345208051AGTc.-8A>G (n.-8A>G)
n.504A>G
c.20A>G (p.Gln7Arg)
 gnomAD v4
1g.230710831T>GCA345208053AGTc.-8A>C (n.-8A>C)
n.504A>C
c.20A>C (p.Gln7Pro)
1g.230710832G>ACA345208055AGTc.-9C>T (n.-9C>T)
n.503C>T
c.19C>T (p.Gln7Ter)
1g.230710832G>CCA345208056AGTc.-9C>G (n.-9C>G)
n.503C>G
c.19C>G (p.Gln7Glu)
1g.230710832G>TCA345208058AGTc.-9C>A (n.-9C>A)
n.503C>A
c.19C>A (p.Gln7Lys)
1g.230710835delCA2698274113AGTc.-9del (n.-9del)
n.503del
c.19del (p.Gln7SerfsTer9)
 dbSNP
1g.230710833G>ACA423884083AGTc.-10C>T (n.-10C>T)
n.502C>T
c.18C>T (p.Pro6=)
1g.230710833G>CCA423884084AGTc.-10C>G (n.-10C>G)
n.502C>G
c.18C>G (p.Pro6=)
1g.230710833G>TCA423884085AGTc.-10C>A (n.-10C>A)
n.502C>A
c.18C>A (p.Pro6=)
 gnomAD v4
1g.230710834G>ACA345208060AGTc.-11C>T (n.-11C>T)
n.501C>T
c.17C>T (p.Pro6Leu)
 gnomAD v4
1g.230710834G>CCA1448406AGTc.-11C>G (n.-11C>G)
n.501C>G
c.17C>G (p.Pro6Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.230710834G=CA1226659022AGTc.-11C= (n.-11C=)
n.501C=
c.17C= (p.Pro6=)
1g.230710834G>TCA345208062AGTc.-11C>A (n.-11C>A)
n.501C>A
c.17C>A (p.Pro6His)
 gnomAD v4

Number of alleles fetched