Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.207611713A=CA1149115085CR1c.6332A= (p.His2111=)
c.4982A= (p.His1661=)
c.1180-4862A=
c.6347A= (p.His2116=)
c.4997A= (p.His1666=)
1g.207611713A>CCA344544993CR1c.6332A>C (p.His2111Pro)
c.4982A>C (p.His1661Pro)
c.1180-4862A>C
c.6347A>C (p.His2116Pro)
c.4997A>C (p.His1666Pro)
1g.207611713A>GCA1370421CR1c.6332A>G (p.His2111Arg)
c.4982A>G (p.His1661Arg)
c.1180-4862A>G
c.6347A>G (p.His2116Arg)
c.4997A>G (p.His1666Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611713A>TCA344544994CR1c.6332A>T (p.His2111Leu)
c.4982A>T (p.His1661Leu)
c.1180-4862A>T
c.6347A>T (p.His2116Leu)
c.4997A>T (p.His1666Leu)
1g.207611714T>ACA344544996CR1c.6333T>A (p.His2111Gln)
c.4983T>A (p.His1661Gln)
c.1180-4861T>A
c.6348T>A (p.His2116Gln)
c.4998T>A (p.His1666Gln)
1g.207611714T>CCA422972777CR1c.6333T>C (p.His2111=)
c.4983T>C (p.His1661=)
c.1180-4861T>C
c.6348T>C (p.His2116=)
c.4998T>C (p.His1666=)
1g.207611714T>GCA344544995CR1c.6333T>G (p.His2111Gln)
c.4983T>G (p.His1661Gln)
c.1180-4861T>G
c.6348T>G (p.His2116Gln)
c.4998T>G (p.His1666Gln)
1g.207611715A>CCA344544997CR1c.6334A>C (p.Thr2112Pro)
c.4984A>C (p.Thr1662Pro)
c.1180-4860A>C
c.6349A>C (p.Thr2117Pro)
c.4999A>C (p.Thr1667Pro)
1g.207611715A>GCA344544999CR1c.6334A>G (p.Thr2112Ala)
c.4984A>G (p.Thr1662Ala)
c.1180-4860A>G
c.6349A>G (p.Thr2117Ala)
c.4999A>G (p.Thr1667Ala)
1g.207611715A>TCA344544998CR1c.6334A>T (p.Thr2112Ser)
c.4984A>T (p.Thr1662Ser)
c.1180-4860A>T
c.6349A>T (p.Thr2117Ser)
c.4999A>T (p.Thr1667Ser)
1g.207611715_207611716delinsACCA2483456531CR1c.6334_6335delinsAC (p.Thr2112=)
c.4984_4985delinsAC (p.Thr1662=)
c.1180-4860_1180-4859delinsAC
c.6349_6350delinsAC (p.Thr2117=)
c.4999_5000delinsAC (p.Thr1667=)
1g.207611716C>ACA344545000CR1c.6335C>A (p.Thr2112Asn)
c.4985C>A (p.Thr1662Asn)
c.1180-4859C>A
c.6350C>A (p.Thr2117Asn)
c.5000C>A (p.Thr1667Asn)
 gnomAD v4
1g.207611716C=CA2483456532CR1c.6335C= (p.Thr2112=)
c.4985C= (p.Thr1662=)
c.1180-4859C=
c.6350C= (p.Thr2117=)
c.5000C= (p.Thr1667=)
1g.207611716C>GCA344545001CR1c.6335C>G (p.Thr2112Ser)
c.4985C>G (p.Thr1662Ser)
c.1180-4859C>G
c.6350C>G (p.Thr2117Ser)
c.5000C>G (p.Thr1667Ser)
1g.207611716C>TCA344545002CR1c.6335C>T (p.Thr2112Ile)
c.4985C>T (p.Thr1662Ile)
c.1180-4859C>T
c.6350C>T (p.Thr2117Ile)
c.5000C>T (p.Thr1667Ile)
 dbSNP gnomAD v2 gnomAD v4
1g.207611718delCA528999500CR1c.6337del (p.Leu2113Ter)
c.4987del (p.Leu1663Ter)
c.1180-4857del
c.6352del (p.Leu2118Ter)
c.5002del (p.Leu1668Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.207611717C>ACA422972784CR1c.6336C>A (p.Thr2112=)
c.4986C>A (p.Thr1662=)
c.1180-4858C>A
c.6351C>A (p.Thr2117=)
c.5001C>A (p.Thr1667=)
1g.207611717C>GCA422972785CR1c.6336C>G (p.Thr2112=)
c.4986C>G (p.Thr1662=)
c.1180-4858C>G
c.6351C>G (p.Thr2117=)
c.5001C>G (p.Thr1667=)
1g.207611717C>TCA422972787CR1c.6336C>T (p.Thr2112=)
c.4986C>T (p.Thr1662=)
c.1180-4858C>T
c.6351C>T (p.Thr2117=)
c.5001C>T (p.Thr1667=)
1g.207611718C>ACA344545003CR1c.6337C>A (p.Leu2113Ile)
c.4987C>A (p.Leu1663Ile)
c.1180-4857C>A
c.6352C>A (p.Leu2118Ile)
c.5002C>A (p.Leu1668Ile)
1g.207611718C>GCA344545004CR1c.6337C>G (p.Leu2113Val)
c.4987C>G (p.Leu1663Val)
c.1180-4857C>G
c.6352C>G (p.Leu2118Val)
c.5002C>G (p.Leu1668Val)
 gnomAD v4
1g.207611718C>TCA422972790CR1c.6337C>T (p.Leu2113=)
c.4987C>T (p.Leu1663=)
c.1180-4857C>T
c.6352C>T (p.Leu2118=)
c.5002C>T (p.Leu1668=)
 COSMIC COSMIC
1g.207611719T>ACA344545005CR1c.6338T>A (p.Leu2113Gln)
c.4988T>A (p.Leu1663Gln)
c.1180-4856T>A
c.6353T>A (p.Leu2118Gln)
c.5003T>A (p.Leu1668Gln)
 gnomAD v4
1g.207611719T>CCA344545006CR1c.6338T>C (p.Leu2113Pro)
c.4988T>C (p.Leu1663Pro)
c.1180-4856T>C
c.6353T>C (p.Leu2118Pro)
c.5003T>C (p.Leu1668Pro)
 dbSNP gnomAD v2 gnomAD v4
1g.207611719T>GCA344545007CR1c.6338T>G (p.Leu2113Arg)
c.4988T>G (p.Leu1663Arg)
c.1180-4856T>G
c.6353T>G (p.Leu2118Arg)
c.5003T>G (p.Leu1668Arg)
1g.207611719T=CA2483456533CR1c.6338T= (p.Leu2113=)
c.4988T= (p.Leu1663=)
c.1180-4856T=
c.6353T= (p.Leu2118=)
c.5003T= (p.Leu1668=)
1g.207611720A>CCA422972795CR1c.6339A>C (p.Leu2113=)
c.4989A>C (p.Leu1663=)
c.1180-4855A>C
c.6354A>C (p.Leu2118=)
c.5004A>C (p.Leu1668=)
1g.207611720A>GCA422972797CR1c.6339A>G (p.Leu2113=)
c.4989A>G (p.Leu1663=)
c.1180-4855A>G
c.6354A>G (p.Leu2118=)
c.5004A>G (p.Leu1668=)
1g.207611720A>TCA422972798CR1c.6339A>T (p.Leu2113=)
c.4989A>T (p.Leu1663=)
c.1180-4855A>T
c.6354A>T (p.Leu2118=)
c.5004A>T (p.Leu1668=)
1g.207611721A>CCA344545008CR1c.6340A>C (p.Ser2114Arg)
c.4990A>C (p.Ser1664Arg)
c.1180-4854A>C
c.6355A>C (p.Ser2119Arg)
c.5005A>C (p.Ser1669Arg)
1g.207611721A>GCA344545009CR1c.6340A>G (p.Ser2114Gly)
c.4990A>G (p.Ser1664Gly)
c.1180-4854A>G
c.6355A>G (p.Ser2119Gly)
c.5005A>G (p.Ser1669Gly)
1g.207611721A>TCA344545010CR1c.6340A>T (p.Ser2114Cys)
c.4990A>T (p.Ser1664Cys)
c.1180-4854A>T
c.6355A>T (p.Ser2119Cys)
c.5005A>T (p.Ser1669Cys)
1g.207611722G>ACA344545011CR1c.6341G>A (p.Ser2114Asn)
c.4991G>A (p.Ser1664Asn)
c.1180-4853G>A
c.6356G>A (p.Ser2119Asn)
c.5006G>A (p.Ser1669Asn)
1g.207611722G>CCA344545012CR1c.6341G>C (p.Ser2114Thr)
c.4991G>C (p.Ser1664Thr)
c.1180-4853G>C
c.6356G>C (p.Ser2119Thr)
c.5006G>C (p.Ser1669Thr)
1g.207611722G>TCA344545013CR1c.6341G>T (p.Ser2114Ile)
c.4991G>T (p.Ser1664Ile)
c.1180-4853G>T
c.6356G>T (p.Ser2119Ile)
c.5006G>T (p.Ser1669Ile)
1g.207611723C>ACA344545014CR1c.6342C>A (p.Ser2114Arg)
c.4992C>A (p.Ser1664Arg)
c.1180-4852C>A
c.6357C>A (p.Ser2119Arg)
c.5007C>A (p.Ser1669Arg)
1g.207611723C>GCA344545015CR1c.6342C>G (p.Ser2114Arg)
c.4992C>G (p.Ser1664Arg)
c.1180-4852C>G
c.6357C>G (p.Ser2119Arg)
c.5007C>G (p.Ser1669Arg)
1g.207611723C>TCA422972808CR1c.6342C>T (p.Ser2114=)
c.4992C>T (p.Ser1664=)
c.1180-4852C>T
c.6357C>T (p.Ser2119=)
c.5007C>T (p.Ser1669=)
1g.207611724C>ACA344545016CR1c.6343C>A (p.His2115Asn)
c.4993C>A (p.His1665Asn)
c.1180-4851C>A
c.6358C>A (p.His2120Asn)
c.5008C>A (p.His1670Asn)
1g.207611724C>GCA344545017CR1c.6343C>G (p.His2115Asp)
c.4993C>G (p.His1665Asp)
c.1180-4851C>G
c.6358C>G (p.His2120Asp)
c.5008C>G (p.His1670Asp)
1g.207611724C>TCA344545018CR1c.6343C>T (p.His2115Tyr)
c.4993C>T (p.His1665Tyr)
c.1180-4851C>T
c.6358C>T (p.His2120Tyr)
c.5008C>T (p.His1670Tyr)
 gnomAD v3 gnomAD v4
1g.207611725A>CCA344545019CR1c.6344A>C (p.His2115Pro)
c.4994A>C (p.His1665Pro)
c.1180-4850A>C
c.6359A>C (p.His2120Pro)
c.5009A>C (p.His1670Pro)
1g.207611725A>GCA344545020CR1c.6344A>G (p.His2115Arg)
c.4994A>G (p.His1665Arg)
c.1180-4850A>G
c.6359A>G (p.His2120Arg)
c.5009A>G (p.His1670Arg)
1g.207611725A>TCA344545021CR1c.6344A>T (p.His2115Leu)
c.4994A>T (p.His1665Leu)
c.1180-4850A>T
c.6359A>T (p.His2120Leu)
c.5009A>T (p.His1670Leu)
1g.207611726T>ACA344545022CR1c.6345T>A (p.His2115Gln)
c.4995T>A (p.His1665Gln)
c.1180-4849T>A
c.6360T>A (p.His2120Gln)
c.5010T>A (p.His1670Gln)
1g.207611726T>CCA422972817CR1c.6345T>C (p.His2115=)
c.4995T>C (p.His1665=)
c.1180-4849T>C
c.6360T>C (p.His2120=)
c.5010T>C (p.His1670=)
 dbSNP gnomAD v2 gnomAD v4
1g.207611726T>GCA344545023CR1c.6345T>G (p.His2115Gln)
c.4995T>G (p.His1665Gln)
c.1180-4849T>G
c.6360T>G (p.His2120Gln)
c.5010T>G (p.His1670Gln)
1g.207611726T=CA2483456534CR1c.6345T= (p.His2115=)
c.4995T= (p.His1665=)
c.1180-4849T=
c.6360T= (p.His2120=)
c.5010T= (p.His1670=)
1g.207611727C>ACA344545024CR1c.6346C>A (p.Gln2116Lys)
c.4996C>A (p.Gln1666Lys)
c.1180-4848C>A
c.6361C>A (p.Gln2121Lys)
c.5011C>A (p.Gln1671Lys)
1g.207611727C=CA2483456535CR1c.6346C= (p.Gln2116=)
c.4996C= (p.Gln1666=)
c.1180-4848C=
c.6361C= (p.Gln2121=)
c.5011C= (p.Gln1671=)
1g.207611727C>GCA36655196CR1c.6346C>G (p.Gln2116Glu)
c.4996C>G (p.Gln1666Glu)
c.1180-4848C>G
c.6361C>G (p.Gln2121Glu)
c.5011C>G (p.Gln1671Glu)
 dbSNP
1g.207611727C>TCA36655198CR1c.6346C>T (p.Gln2116Ter)
c.4996C>T (p.Gln1666Ter)
c.1180-4848C>T
c.6361C>T (p.Gln2121Ter)
c.5011C>T (p.Gln1671Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.207611728A>CCA344545027CR1c.6347A>C (p.Gln2116Pro)
c.4997A>C (p.Gln1666Pro)
c.1180-4847A>C
c.6362A>C (p.Gln2121Pro)
c.5012A>C (p.Gln1671Pro)
1g.207611728A>GCA344545026CR1c.6347A>G (p.Gln2116Arg)
c.4997A>G (p.Gln1666Arg)
c.1180-4847A>G
c.6362A>G (p.Gln2121Arg)
c.5012A>G (p.Gln1671Arg)
 gnomAD v4
1g.207611728A>TCA344545025CR1c.6347A>T (p.Gln2116Leu)
c.4997A>T (p.Gln1666Leu)
c.1180-4847A>T
c.6362A>T (p.Gln2121Leu)
c.5012A>T (p.Gln1671Leu)
1g.207611729G>ACA1370422CR1c.6348G>A (p.Gln2116=)
c.4998G>A (p.Gln1666=)
c.1180-4846G>A
c.6363G>A (p.Gln2121=)
c.5013G>A (p.Gln1671=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611729G>CCA344545028CR1c.6348G>C (p.Gln2116His)
c.4998G>C (p.Gln1666His)
c.1180-4846G>C
c.6363G>C (p.Gln2121His)
c.5013G>C (p.Gln1671His)
1g.207611729G=CA2483456536CR1c.6348G= (p.Gln2116=)
c.4998G= (p.Gln1666=)
c.1180-4846G=
c.6363G= (p.Gln2121=)
c.5013G= (p.Gln1671=)
1g.207611729G>TCA344545029CR1c.6348G>T (p.Gln2116His)
c.4998G>T (p.Gln1666His)
c.1180-4846G>T
c.6363G>T (p.Gln2121His)
c.5013G>T (p.Gln1671His)
1g.207611730G>ACA344545030CR1c.6349G>A (p.Asp2117Asn)
c.4999G>A (p.Asp1667Asn)
c.1180-4845G>A
c.6364G>A (p.Asp2122Asn)
c.5014G>A (p.Asp1672Asn)
 gnomAD v4
1g.207611730G>CCA344545031CR1c.6349G>C (p.Asp2117His)
c.4999G>C (p.Asp1667His)
c.1180-4845G>C
c.6364G>C (p.Asp2122His)
c.5014G>C (p.Asp1672His)
1g.207611730G>TCA344545032CR1c.6349G>T (p.Asp2117Tyr)
c.4999G>T (p.Asp1667Tyr)
c.1180-4845G>T
c.6364G>T (p.Asp2122Tyr)
c.5014G>T (p.Asp1672Tyr)
1g.207611731A>CCA344545035CR1c.6350A>C (p.Asp2117Ala)
c.5000A>C (p.Asp1667Ala)
c.1180-4844A>C
c.6365A>C (p.Asp2122Ala)
c.5015A>C (p.Asp1672Ala)
1g.207611731A>GCA344545034CR1c.6350A>G (p.Asp2117Gly)
c.5000A>G (p.Asp1667Gly)
c.1180-4844A>G
c.6365A>G (p.Asp2122Gly)
c.5015A>G (p.Asp1672Gly)
 gnomAD v4
1g.207611731A>TCA344545033CR1c.6350A>T (p.Asp2117Val)
c.5000A>T (p.Asp1667Val)
c.1180-4844A>T
c.6365A>T (p.Asp2122Val)
c.5015A>T (p.Asp1672Val)
1g.207611733_207611735delCA2650269920CR1c.6352_6354del (p.Asn2118del)
c.5002_5004del (p.Asn1668del)
c.1180-4842_1180-4840del
c.6367_6369del (p.Asn2123del)
c.5017_5019del (p.Asn1673del)
 gnomAD v4
1g.207611732C>ACA344545036CR1c.6351C>A (p.Asp2117Glu)
c.5001C>A (p.Asp1667Glu)
c.1180-4843C>A
c.6366C>A (p.Asp2122Glu)
c.5016C>A (p.Asp1672Glu)
1g.207611732C=CA1147040781CR1c.6351C= (p.Asp2117=)
c.5001C= (p.Asp1667=)
c.1180-4843C=
c.6366C= (p.Asp2122=)
c.5016C= (p.Asp1672=)
1g.207611732C>GCA344545037CR1c.6351C>G (p.Asp2117Glu)
c.5001C>G (p.Asp1667Glu)
c.1180-4843C>G
c.6366C>G (p.Asp2122Glu)
c.5016C>G (p.Asp1672Glu)
1g.207611732C>TCA1370423CR1c.6351C>T (p.Asp2117=)
c.5001C>T (p.Asp1667=)
c.1180-4843C>T
c.6366C>T (p.Asp2122=)
c.5016C>T (p.Asp1672=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611733A>CCA344545038CR1c.6352A>C (p.Asn2118His)
c.5002A>C (p.Asn1668His)
c.1180-4842A>C
c.6367A>C (p.Asn2123His)
c.5017A>C (p.Asn1673His)
1g.207611733A>GCA344545039CR1c.6352A>G (p.Asn2118Asp)
c.5002A>G (p.Asn1668Asp)
c.1180-4842A>G
c.6367A>G (p.Asn2123Asp)
c.5017A>G (p.Asn1673Asp)
1g.207611733A>TCA344545040CR1c.6352A>T (p.Asn2118Tyr)
c.5002A>T (p.Asn1668Tyr)
c.1180-4842A>T
c.6367A>T (p.Asn2123Tyr)
c.5017A>T (p.Asn1673Tyr)
1g.207611734A>CCA344545041CR1c.6353A>C (p.Asn2118Thr)
c.5003A>C (p.Asn1668Thr)
c.1180-4841A>C
c.6368A>C (p.Asn2123Thr)
c.5018A>C (p.Asn1673Thr)
1g.207611734A>GCA344545043CR1c.6353A>G (p.Asn2118Ser)
c.5003A>G (p.Asn1668Ser)
c.1180-4841A>G
c.6368A>G (p.Asn2123Ser)
c.5018A>G (p.Asn1673Ser)
1g.207611734A>TCA344545042CR1c.6353A>T (p.Asn2118Ile)
c.5003A>T (p.Asn1668Ile)
c.1180-4841A>T
c.6368A>T (p.Asn2123Ile)
c.5018A>T (p.Asn1673Ile)
1g.207611735delCA2650269921CR1c.6354del (p.Ser2120HisfsTer?)
c.5004del (p.Ser1670HisfsTer?)
c.1180-4840del
c.6369del (p.Ser2125HisfsTer?)
c.5019del (p.Ser1675HisfsTer?)
 gnomAD v4
1g.207611735C>ACA1370424CR1c.6354C>A (p.Asn2118Lys)
c.5004C>A (p.Asn1668Lys)
c.1180-4840C>A
c.6369C>A (p.Asn2123Lys)
c.5019C>A (p.Asn1673Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611735C=CA1149040170CR1c.6354C= (p.Asn2118=)
c.5004C= (p.Asn1668=)
c.1180-4840C=
c.6369C= (p.Asn2123=)
c.5019C= (p.Asn1673=)
1g.207611735C>GCA344545044CR1c.6354C>G (p.Asn2118Lys)
c.5004C>G (p.Asn1668Lys)
c.1180-4840C>G
c.6369C>G (p.Asn2123Lys)
c.5019C>G (p.Asn1673Lys)
1g.207611735C>TCA422972842CR1c.6354C>T (p.Asn2118=)
c.5004C>T (p.Asn1668=)
c.1180-4840C>T
c.6369C>T (p.Asn2123=)
c.5019C>T (p.Asn1673=)
1g.207611735_207611736delinsCTCA2483456537CR1c.6354_6355delinsCT (p.Asn2118=)
c.5004_5005delinsCT (p.Asn1668=)
c.1180-4840_1180-4839delinsCT
c.6369_6370delinsCT (p.Asn2123=)
c.5019_5020delinsCT (p.Asn1673=)
1g.207611736T>ACA344545045CR1c.6355T>A (p.Phe2119Ile)
c.5005T>A (p.Phe1669Ile)
c.1180-4839T>A
c.6370T>A (p.Phe2124Ile)
c.5020T>A (p.Phe1674Ile)
1g.207611736T>CCA344545046CR1c.6355T>C (p.Phe2119Leu)
c.5005T>C (p.Phe1669Leu)
c.1180-4839T>C
c.6370T>C (p.Phe2124Leu)
c.5020T>C (p.Phe1674Leu)
1g.207611736T>GCA344545047CR1c.6355T>G (p.Phe2119Val)
c.5005T>G (p.Phe1669Val)
c.1180-4839T>G
c.6370T>G (p.Phe2124Val)
c.5020T>G (p.Phe1674Val)
1g.207611739delCA730633333CR1c.6358del (p.Ser2120HisfsTer?)
c.5008del (p.Ser1670HisfsTer?)
c.1180-4836del
c.6373del (p.Ser2125HisfsTer?)
c.5023del (p.Ser1675HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
1g.207611737T>ACA344545048CR1c.6356T>A (p.Phe2119Tyr)
c.5006T>A (p.Phe1669Tyr)
c.1180-4838T>A
c.6371T>A (p.Phe2124Tyr)
c.5021T>A (p.Phe1674Tyr)
1g.207611737T>CCA1370425CR1c.6356T>C (p.Phe2119Ser)
c.5006T>C (p.Phe1669Ser)
c.1180-4838T>C
c.6371T>C (p.Phe2124Ser)
c.5021T>C (p.Phe1674Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.207611737T>GCA344545049CR1c.6356T>G (p.Phe2119Cys)
c.5006T>G (p.Phe1669Cys)
c.1180-4838T>G
c.6371T>G (p.Phe2124Cys)
c.5021T>G (p.Phe1674Cys)
1g.207611737T=CA2483456538CR1c.6356T= (p.Phe2119=)
c.5006T= (p.Phe1669=)
c.1180-4838T=
c.6371T= (p.Phe2124=)
c.5021T= (p.Phe1674=)
1g.207611738T>ACA344545050CR1c.6357T>A (p.Phe2119Leu)
c.5007T>A (p.Phe1669Leu)
c.1180-4837T>A
c.6372T>A (p.Phe2124Leu)
c.5022T>A (p.Phe1674Leu)
1g.207611738T>CCA1370426CR1c.6357T>C (p.Phe2119=)
c.5007T>C (p.Phe1669=)
c.1180-4837T>C
c.6372T>C (p.Phe2124=)
c.5022T>C (p.Phe1674=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611738T>GCA344545051CR1c.6357T>G (p.Phe2119Leu)
c.5007T>G (p.Phe1669Leu)
c.1180-4837T>G
c.6372T>G (p.Phe2124Leu)
c.5022T>G (p.Phe1674Leu)
1g.207611738T=CA2483456539CR1c.6357T= (p.Phe2119=)
c.5007T= (p.Phe1669=)
c.1180-4837T=
c.6372T= (p.Phe2124=)
c.5022T= (p.Phe1674=)
1g.207611739T>ACA344545052CR1c.6358T>A (p.Ser2120Thr)
c.5008T>A (p.Ser1670Thr)
c.1180-4836T>A
c.6373T>A (p.Ser2125Thr)
c.5023T>A (p.Ser1675Thr)
1g.207611739T>CCA344545054CR1c.6358T>C (p.Ser2120Pro)
c.5008T>C (p.Ser1670Pro)
c.1180-4836T>C
c.6373T>C (p.Ser2125Pro)
c.5023T>C (p.Ser1675Pro)
1g.207611739T>GCA344545053CR1c.6358T>G (p.Ser2120Ala)
c.5008T>G (p.Ser1670Ala)
c.1180-4836T>G
c.6373T>G (p.Ser2125Ala)
c.5023T>G (p.Ser1675Ala)
1g.207611740C>ACA344545055CR1c.6359C>A (p.Ser2120Ter)
c.5009C>A (p.Ser1670Ter)
c.1180-4835C>A
c.6374C>A (p.Ser2125Ter)
c.5024C>A (p.Ser1675Ter)
1g.207611740C>GCA344545057CR1c.6359C>G (p.Ser2120Ter)
c.5009C>G (p.Ser1670Ter)
c.1180-4835C>G
c.6374C>G (p.Ser2125Ter)
c.5024C>G (p.Ser1675Ter)
1g.207611740C>TCA344545056CR1c.6359C>T (p.Ser2120Leu)
c.5009C>T (p.Ser1670Leu)
c.1180-4835C>T
c.6374C>T (p.Ser2125Leu)
c.5024C>T (p.Ser1675Leu)
 gnomAD v4 COSMIC COSMIC
1g.207611741A>CCA422972856CR1c.6360A>C (p.Ser2120=)
c.5010A>C (p.Ser1670=)
c.1180-4834A>C
c.6375A>C (p.Ser2125=)
c.5025A>C (p.Ser1675=)
1g.207611741A>GCA422972858CR1c.6360A>G (p.Ser2120=)
c.5010A>G (p.Ser1670=)
c.1180-4834A>G
c.6375A>G (p.Ser2125=)
c.5025A>G (p.Ser1675=)
1g.207611741A>TCA422972860CR1c.6360A>T (p.Ser2120=)
c.5010A>T (p.Ser1670=)
c.1180-4834A>T
c.6375A>T (p.Ser2125=)
c.5025A>T (p.Ser1675=)
1g.207611742C>ACA344545058CR1c.6361C>A (p.Pro2121Thr)
c.5011C>A (p.Pro1671Thr)
c.1180-4833C>A
c.6376C>A (p.Pro2126Thr)
c.5026C>A (p.Pro1676Thr)
1g.207611742C>GCA344545060CR1c.6361C>G (p.Pro2121Ala)
c.5011C>G (p.Pro1671Ala)
c.1180-4833C>G
c.6376C>G (p.Pro2126Ala)
c.5026C>G (p.Pro1676Ala)
1g.207611742C>TCA344545059CR1c.6361C>T (p.Pro2121Ser)
c.5011C>T (p.Pro1671Ser)
c.1180-4833C>T
c.6376C>T (p.Pro2126Ser)
c.5026C>T (p.Pro1676Ser)
1g.207611743C>ACA344545061CR1c.6362C>A (p.Pro2121His)
c.5012C>A (p.Pro1671His)
c.1180-4832C>A
c.6377C>A (p.Pro2126His)
c.5027C>A (p.Pro1676His)
1g.207611743C>GCA344545063CR1c.6362C>G (p.Pro2121Arg)
c.5012C>G (p.Pro1671Arg)
c.1180-4832C>G
c.6377C>G (p.Pro2126Arg)
c.5027C>G (p.Pro1676Arg)
1g.207611743C>TCA344545062CR1c.6362C>T (p.Pro2121Leu)
c.5012C>T (p.Pro1671Leu)
c.1180-4832C>T
c.6377C>T (p.Pro2126Leu)
c.5027C>T (p.Pro1676Leu)
 gnomAD v4
1g.207611744T>ACA422972866CR1c.6363T>A (p.Pro2121=)
c.5013T>A (p.Pro1671=)
c.1180-4831T>A
c.6378T>A (p.Pro2126=)
c.5028T>A (p.Pro1676=)
1g.207611744T>CCA422972869CR1c.6363T>C (p.Pro2121=)
c.5013T>C (p.Pro1671=)
c.1180-4831T>C
c.6378T>C (p.Pro2126=)
c.5028T>C (p.Pro1676=)
1g.207611744T>GCA422972868CR1c.6363T>G (p.Pro2121=)
c.5013T>G (p.Pro1671=)
c.1180-4831T>G
c.6378T>G (p.Pro2126=)
c.5028T>G (p.Pro1676=)
1g.207611745G>ACA344545064CR1c.6364G>A (p.Gly2122Arg)
c.5014G>A (p.Gly1672Arg)
c.1180-4830G>A
c.6379G>A (p.Gly2127Arg)
c.5029G>A (p.Gly1677Arg)
 gnomAD v4
1g.207611745G>CCA344545065CR1c.6364G>C (p.Gly2122Arg)
c.5014G>C (p.Gly1672Arg)
c.1180-4830G>C
c.6379G>C (p.Gly2127Arg)
c.5029G>C (p.Gly1677Arg)
1g.207611745G>TCA344545066CR1c.6364G>T (p.Gly2122Trp)
c.5014G>T (p.Gly1672Trp)
c.1180-4830G>T
c.6379G>T (p.Gly2127Trp)
c.5029G>T (p.Gly1677Trp)
1g.207611746G>ACA344545067CR1c.6365G>A (p.Gly2122Glu)
c.5015G>A (p.Gly1672Glu)
c.1180-4829G>A
c.6380G>A (p.Gly2127Glu)
c.5030G>A (p.Gly1677Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.207611746G>CCA36655208CR1c.6365G>C (p.Gly2122Ala)
c.5015G>C (p.Gly1672Ala)
c.1180-4829G>C
c.6380G>C (p.Gly2127Ala)
c.5030G>C (p.Gly1677Ala)
 dbSNP gnomAD v3 gnomAD v4
1g.207611746G=CA1143924818CR1c.6365G= (p.Gly2122=)
c.5015G= (p.Gly1672=)
c.1180-4829G=
c.6380G= (p.Gly2127=)
c.5030G= (p.Gly1677=)
1g.207611746G>TCA344545068CR1c.6365G>T (p.Gly2122Val)
c.5015G>T (p.Gly1672Val)
c.1180-4829G>T
c.6380G>T (p.Gly2127Val)
c.5030G>T (p.Gly1677Val)
1g.207611747G>ACA422972877CR1c.6366G>A (p.Gly2122=)
c.5016G>A (p.Gly1672=)
c.1180-4828G>A
c.6381G>A (p.Gly2127=)
c.5031G>A (p.Gly1677=)
1g.207611747G>CCA422972879CR1c.6366G>C (p.Gly2122=)
c.5016G>C (p.Gly1672=)
c.1180-4828G>C
c.6381G>C (p.Gly2127=)
c.5031G>C (p.Gly1677=)
1g.207611747G=CA2483456540CR1c.6366G= (p.Gly2122=)
c.5016G= (p.Gly1672=)
c.1180-4828G=
c.6381G= (p.Gly2127=)
c.5031G= (p.Gly1677=)
1g.207611747G>TCA422972880CR1c.6366G>T (p.Gly2122=)
c.5016G>T (p.Gly1672=)
c.1180-4828G>T
c.6381G>T (p.Gly2127=)
c.5031G>T (p.Gly1677=)
 dbSNP gnomAD v3 gnomAD v4
1g.207611748C>ACA344545069CR1c.6367C>A (p.Gln2123Lys)
c.5017C>A (p.Gln1673Lys)
c.1180-4827C>A
c.6382C>A (p.Gln2128Lys)
c.5032C>A (p.Gln1678Lys)
1g.207611748C>GCA344545070CR1c.6367C>G (p.Gln2123Glu)
c.5017C>G (p.Gln1673Glu)
c.1180-4827C>G
c.6382C>G (p.Gln2128Glu)
c.5032C>G (p.Gln1678Glu)
1g.207611748C>TCA344545071CR1c.6367C>T (p.Gln2123Ter)
c.5017C>T (p.Gln1673Ter)
c.1180-4827C>T
c.6382C>T (p.Gln2128Ter)
c.5032C>T (p.Gln1678Ter)
1g.207611749A=CA2483456541CR1c.6368A= (p.Gln2123=)
c.5018A= (p.Gln1673=)
c.1180-4826A=
c.6383A= (p.Gln2128=)
c.5033A= (p.Gln1678=)
1g.207611749A>CCA344545072CR1c.6368A>C (p.Gln2123Pro)
c.5018A>C (p.Gln1673Pro)
c.1180-4826A>C
c.6383A>C (p.Gln2128Pro)
c.5033A>C (p.Gln1678Pro)
1g.207611749A>GCA36655210CR1c.6368A>G (p.Gln2123Arg)
c.5018A>G (p.Gln1673Arg)
c.1180-4826A>G
c.6383A>G (p.Gln2128Arg)
c.5033A>G (p.Gln1678Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.207611749A>TCA344545073CR1c.6368A>T (p.Gln2123Leu)
c.5018A>T (p.Gln1673Leu)
c.1180-4826A>T
c.6383A>T (p.Gln2128Leu)
c.5033A>T (p.Gln1678Leu)
1g.207611750G>ACA422972886CR1c.6369G>A (p.Gln2123=)
c.5019G>A (p.Gln1673=)
c.1180-4825G>A
c.6384G>A (p.Gln2128=)
c.5034G>A (p.Gln1678=)
1g.207611750G>CCA344545074CR1c.6369G>C (p.Gln2123His)
c.5019G>C (p.Gln1673His)
c.1180-4825G>C
c.6384G>C (p.Gln2128His)
c.5034G>C (p.Gln1678His)
1g.207611750G>TCA344545075CR1c.6369G>T (p.Gln2123His)
c.5019G>T (p.Gln1673His)
c.1180-4825G>T
c.6384G>T (p.Gln2128His)
c.5034G>T (p.Gln1678His)
1g.207611751G>ACA1370427CR1c.6370G>A (p.Glu2124Lys)
c.5020G>A (p.Glu1674Lys)
c.1180-4824G>A
c.6385G>A (p.Glu2129Lys)
c.5035G>A (p.Glu1679Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611751G>CCA344545077CR1c.6370G>C (p.Glu2124Gln)
c.5020G>C (p.Glu1674Gln)
c.1180-4824G>C
c.6385G>C (p.Glu2129Gln)
c.5035G>C (p.Glu1679Gln)
 dbSNP
1g.207611751G=CA2483456542CR1c.6370G= (p.Glu2124=)
c.5020G= (p.Glu1674=)
c.1180-4824G=
c.6385G= (p.Glu2129=)
c.5035G= (p.Glu1679=)
1g.207611751G>TCA344545076CR1c.6370G>T (p.Glu2124Ter)
c.5020G>T (p.Glu1674Ter)
c.1180-4824G>T
c.6385G>T (p.Glu2129Ter)
c.5035G>T (p.Glu1679Ter)
 gnomAD v4
1g.207611752A>CCA344545078CR1c.6371A>C (p.Glu2124Ala)
c.5021A>C (p.Glu1674Ala)
c.1180-4823A>C
c.6386A>C (p.Glu2129Ala)
c.5036A>C (p.Glu1679Ala)
1g.207611752A>GCA344545079CR1c.6371A>G (p.Glu2124Gly)
c.5021A>G (p.Glu1674Gly)
c.1180-4823A>G
c.6386A>G (p.Glu2129Gly)
c.5036A>G (p.Glu1679Gly)
1g.207611752A>TCA344545080CR1c.6371A>T (p.Glu2124Val)
c.5021A>T (p.Glu1674Val)
c.1180-4823A>T
c.6386A>T (p.Glu2129Val)
c.5036A>T (p.Glu1679Val)
1g.207611753A>CCA344545081CR1c.6372A>C (p.Glu2124Asp)
c.5022A>C (p.Glu1674Asp)
c.1180-4822A>C
c.6387A>C (p.Glu2129Asp)
c.5037A>C (p.Glu1679Asp)
1g.207611753A>GCA422972893CR1c.6372A>G (p.Glu2124=)
c.5022A>G (p.Glu1674=)
c.1180-4822A>G
c.6387A>G (p.Glu2129=)
c.5037A>G (p.Glu1679=)
1g.207611753A>TCA344545082CR1c.6372A>T (p.Glu2124Asp)
c.5022A>T (p.Glu1674Asp)
c.1180-4822A>T
c.6387A>T (p.Glu2129Asp)
c.5037A>T (p.Glu1679Asp)
1g.207611754G>ACA344545083CR1c.6373G>A (p.Val2125Met)
c.5023G>A (p.Val1675Met)
c.1180-4821G>A
c.6388G>A (p.Val2130Met)
c.5038G>A (p.Val1680Met)
 gnomAD v4
1g.207611754G>CCA1370429CR1c.6373G>C (p.Val2125Leu)
c.5023G>C (p.Val1675Leu)
c.1180-4821G>C
c.6388G>C (p.Val2130Leu)
c.5038G>C (p.Val1680Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611754G=CA1143529754CR1c.6373G= (p.Val2125=)
c.5023G= (p.Val1675=)
c.1180-4821G=
c.6388G= (p.Val2130=)
c.5038G= (p.Val1680=)
1g.207611754G>TCA1370428CR1c.6373G>T (p.Val2125Leu)
c.5023G>T (p.Val1675Leu)
c.1180-4821G>T
c.6388G>T (p.Val2130Leu)
c.5038G>T (p.Val1680Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611755T>ACA344545084CR1c.6374T>A (p.Val2125Glu)
c.5024T>A (p.Val1675Glu)
c.1180-4820T>A
c.6389T>A (p.Val2130Glu)
c.5039T>A (p.Val1680Glu)
1g.207611755T>CCA344545085CR1c.6374T>C (p.Val2125Ala)
c.5024T>C (p.Val1675Ala)
c.1180-4820T>C
c.6389T>C (p.Val2130Ala)
c.5039T>C (p.Val1680Ala)
1g.207611755T>GCA344545086CR1c.6374T>G (p.Val2125Gly)
c.5024T>G (p.Val1675Gly)
c.1180-4820T>G
c.6389T>G (p.Val2130Gly)
c.5039T>G (p.Val1680Gly)
1g.207611756G>ACA422972899CR1c.6375G>A (p.Val2125=)
c.5025G>A (p.Val1675=)
c.1180-4819G>A
c.6390G>A (p.Val2130=)
c.5040G>A (p.Val1680=)
 dbSNP gnomAD v2 gnomAD v4
1g.207611756G>CCA422972900CR1c.6375G>C (p.Val2125=)
c.5025G>C (p.Val1675=)
c.1180-4819G>C
c.6390G>C (p.Val2130=)
c.5040G>C (p.Val1680=)
1g.207611756G=CA2483456543CR1c.6375G= (p.Val2125=)
c.5025G= (p.Val1675=)
c.1180-4819G=
c.6390G= (p.Val2130=)
c.5040G= (p.Val1680=)
1g.207611756G>TCA422972905CR1c.6375G>T (p.Val2125=)
c.5025G>T (p.Val1675=)
c.1180-4819G>T
c.6390G>T (p.Val2130=)
c.5040G>T (p.Val1680=)
1g.207611757T>ACA344545087CR1c.6376T>A (p.Phe2126Ile)
c.5026T>A (p.Phe1676Ile)
c.1180-4818T>A
c.6391T>A (p.Phe2131Ile)
c.5041T>A (p.Phe1681Ile)
1g.207611757T>CCA344545088CR1c.6376T>C (p.Phe2126Leu)
c.5026T>C (p.Phe1676Leu)
c.1180-4818T>C
c.6391T>C (p.Phe2131Leu)
c.5041T>C (p.Phe1681Leu)
1g.207611757T>GCA344545089CR1c.6376T>G (p.Phe2126Val)
c.5026T>G (p.Phe1676Val)
c.1180-4818T>G
c.6391T>G (p.Phe2131Val)
c.5041T>G (p.Phe1681Val)
1g.207611758T>ACA344545092CR1c.6377T>A (p.Phe2126Tyr)
c.5027T>A (p.Phe1676Tyr)
c.1180-4817T>A
c.6392T>A (p.Phe2131Tyr)
c.5042T>A (p.Phe1681Tyr)
 COSMIC COSMIC
1g.207611758T>CCA344545091CR1c.6377T>C (p.Phe2126Ser)
c.5027T>C (p.Phe1676Ser)
c.1180-4817T>C
c.6392T>C (p.Phe2131Ser)
c.5042T>C (p.Phe1681Ser)
1g.207611758T>GCA344545090CR1c.6377T>G (p.Phe2126Cys)
c.5027T>G (p.Phe1676Cys)
c.1180-4817T>G
c.6392T>G (p.Phe2131Cys)
c.5042T>G (p.Phe1681Cys)
1g.207611759C>ACA344545093CR1c.6378C>A (p.Phe2126Leu)
c.5028C>A (p.Phe1676Leu)
c.1180-4816C>A
c.6393C>A (p.Phe2131Leu)
c.5043C>A (p.Phe1681Leu)
1g.207611759C=CA2483456544CR1c.6378C= (p.Phe2126=)
c.5028C= (p.Phe1676=)
c.1180-4816C=
c.6393C= (p.Phe2131=)
c.5043C= (p.Phe1681=)
1g.207611759C>GCA344545094CR1c.6378C>G (p.Phe2126Leu)
c.5028C>G (p.Phe1676Leu)
c.1180-4816C>G
c.6393C>G (p.Phe2131Leu)
c.5043C>G (p.Phe1681Leu)
1g.207611759C>TCA422972914CR1c.6378C>T (p.Phe2126=)
c.5028C>T (p.Phe1676=)
c.1180-4816C>T
c.6393C>T (p.Phe2131=)
c.5043C>T (p.Phe1681=)
 dbSNP
1g.207611760T>ACA344545095CR1c.6379T>A (p.Tyr2127Asn)
c.5029T>A (p.Tyr1677Asn)
c.1180-4815T>A
c.6394T>A (p.Tyr2132Asn)
c.5044T>A (p.Tyr1682Asn)
1g.207611760T>CCA344545096CR1c.6379T>C (p.Tyr2127His)
c.5029T>C (p.Tyr1677His)
c.1180-4815T>C
c.6394T>C (p.Tyr2132His)
c.5044T>C (p.Tyr1682His)
 gnomAD v4
1g.207611760T>GCA344545097CR1c.6379T>G (p.Tyr2127Asp)
c.5029T>G (p.Tyr1677Asp)
c.1180-4815T>G
c.6394T>G (p.Tyr2132Asp)
c.5044T>G (p.Tyr1682Asp)
1g.207611761A>CCA344545098CR1c.6380A>C (p.Tyr2127Ser)
c.5030A>C (p.Tyr1677Ser)
c.1180-4814A>C
c.6395A>C (p.Tyr2132Ser)
c.5045A>C (p.Tyr1682Ser)
1g.207611761A>GCA344545099CR1c.6380A>G (p.Tyr2127Cys)
c.5030A>G (p.Tyr1677Cys)
c.1180-4814A>G
c.6395A>G (p.Tyr2132Cys)
c.5045A>G (p.Tyr1682Cys)
 gnomAD v4
1g.207611761A>TCA344545100CR1c.6380A>T (p.Tyr2127Phe)
c.5030A>T (p.Tyr1677Phe)
c.1180-4814A>T
c.6395A>T (p.Tyr2132Phe)
c.5045A>T (p.Tyr1682Phe)
1g.207611762C>ACA344545101CR1c.6381C>A (p.Tyr2127Ter)
c.5031C>A (p.Tyr1677Ter)
c.1180-4813C>A
c.6396C>A (p.Tyr2132Ter)
c.5046C>A (p.Tyr1682Ter)
1g.207611762C=CA2483456545CR1c.6381C= (p.Tyr2127=)
c.5031C= (p.Tyr1677=)
c.1180-4813C=
c.6396C= (p.Tyr2132=)
c.5046C= (p.Tyr1682=)
1g.207611762C>GCA344545102CR1c.6381C>G (p.Tyr2127Ter)
c.5031C>G (p.Tyr1677Ter)
c.1180-4813C>G
c.6396C>G (p.Tyr2132Ter)
c.5046C>G (p.Tyr1682Ter)
1g.207611762C>TCA422972922CR1c.6381C>T (p.Tyr2127=)
c.5031C>T (p.Tyr1677=)
c.1180-4813C>T
c.6396C>T (p.Tyr2132=)
c.5046C>T (p.Tyr1682=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611763A>CCA344545103CR1c.6382A>C (p.Ser2128Arg)
c.5032A>C (p.Ser1678Arg)
c.1180-4812A>C
c.6397A>C (p.Ser2133Arg)
c.5047A>C (p.Ser1683Arg)
1g.207611763A>GCA344545104CR1c.6382A>G (p.Ser2128Gly)
c.5032A>G (p.Ser1678Gly)
c.1180-4812A>G
c.6397A>G (p.Ser2133Gly)
c.5047A>G (p.Ser1683Gly)
1g.207611763A>TCA344545105CR1c.6382A>T (p.Ser2128Cys)
c.5032A>T (p.Ser1678Cys)
c.1180-4812A>T
c.6397A>T (p.Ser2133Cys)
c.5047A>T (p.Ser1683Cys)
1g.207611764G>ACA344545108CR1c.6383G>A (p.Ser2128Asn)
c.5033G>A (p.Ser1678Asn)
c.1180-4811G>A
c.6398G>A (p.Ser2133Asn)
c.5048G>A (p.Ser1683Asn)
1g.207611764G>CCA344545107CR1c.6383G>C (p.Ser2128Thr)
c.5033G>C (p.Ser1678Thr)
c.1180-4811G>C
c.6398G>C (p.Ser2133Thr)
c.5048G>C (p.Ser1683Thr)
1g.207611764G>TCA344545106CR1c.6383G>T (p.Ser2128Ile)
c.5033G>T (p.Ser1678Ile)
c.1180-4811G>T
c.6398G>T (p.Ser2133Ile)
c.5048G>T (p.Ser1683Ile)
1g.207611765C>ACA344545109CR1c.6384C>A (p.Ser2128Arg)
c.5034C>A (p.Ser1678Arg)
c.1180-4810C>A
c.6399C>A (p.Ser2133Arg)
c.5049C>A (p.Ser1683Arg)
 dbSNP gnomAD v3 gnomAD v4
1g.207611765C=CA2483456546CR1c.6384C= (p.Ser2128=)
c.5034C= (p.Ser1678=)
c.1180-4810C=
c.6399C= (p.Ser2133=)
c.5049C= (p.Ser1683=)
1g.207611765C>GCA344545110CR1c.6384C>G (p.Ser2128Arg)
c.5034C>G (p.Ser1678Arg)
c.1180-4810C>G
c.6399C>G (p.Ser2133Arg)
c.5049C>G (p.Ser1683Arg)
1g.207611765C>TCA422972931CR1c.6384C>T (p.Ser2128=)
c.5034C>T (p.Ser1678=)
c.1180-4810C>T
c.6399C>T (p.Ser2133=)
c.5049C>T (p.Ser1683=)
1g.207611766T>ACA344545111CR1c.6385T>A (p.Cys2129Ser)
c.5035T>A (p.Cys1679Ser)
c.1180-4809T>A
c.6400T>A (p.Cys2134Ser)
c.5050T>A (p.Cys1684Ser)
1g.207611766T>CCA344545112CR1c.6385T>C (p.Cys2129Arg)
c.5035T>C (p.Cys1679Arg)
c.1180-4809T>C
c.6400T>C (p.Cys2134Arg)
c.5050T>C (p.Cys1684Arg)
1g.207611766T>GCA344545113CR1c.6385T>G (p.Cys2129Gly)
c.5035T>G (p.Cys1679Gly)
c.1180-4809T>G
c.6400T>G (p.Cys2134Gly)
c.5050T>G (p.Cys1684Gly)
1g.207611767G>ACA344545114CR1c.6386G>A (p.Cys2129Tyr)
c.5036G>A (p.Cys1679Tyr)
c.1180-4808G>A
c.6401G>A (p.Cys2134Tyr)
c.5051G>A (p.Cys1684Tyr)
1g.207611767G>CCA1370430CR1c.6386G>C (p.Cys2129Ser)
c.5036G>C (p.Cys1679Ser)
c.1180-4808G>C
c.6401G>C (p.Cys2134Ser)
c.5051G>C (p.Cys1684Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611767G=CA2483456547CR1c.6386G= (p.Cys2129=)
c.5036G= (p.Cys1679=)
c.1180-4808G=
c.6401G= (p.Cys2134=)
c.5051G= (p.Cys1684=)
1g.207611767G>TCA344545115CR1c.6386G>T (p.Cys2129Phe)
c.5036G>T (p.Cys1679Phe)
c.1180-4808G>T
c.6401G>T (p.Cys2134Phe)
c.5051G>T (p.Cys1684Phe)
1g.207611768T>ACA344545116CR1c.6387T>A (p.Cys2129Ter)
c.5037T>A (p.Cys1679Ter)
c.1180-4807T>A
c.6402T>A (p.Cys2134Ter)
c.5052T>A (p.Cys1684Ter)
1g.207611768T>CCA422972940CR1c.6387T>C (p.Cys2129=)
c.5037T>C (p.Cys1679=)
c.1180-4807T>C
c.6402T>C (p.Cys2134=)
c.5052T>C (p.Cys1684=)
1g.207611768T>GCA344545117CR1c.6387T>G (p.Cys2129Trp)
c.5037T>G (p.Cys1679Trp)
c.1180-4807T>G
c.6402T>G (p.Cys2134Trp)
c.5052T>G (p.Cys1684Trp)
1g.207611769G>ACA344545118CR1c.6388G>A (p.Glu2130Lys)
c.5038G>A (p.Glu1680Lys)
c.1180-4806G>A
c.6403G>A (p.Glu2135Lys)
c.5053G>A (p.Glu1685Lys)
 dbSNP gnomAD v4
1g.207611769G>CCA344545119CR1c.6388G>C (p.Glu2130Gln)
c.5038G>C (p.Glu1680Gln)
c.1180-4806G>C
c.6403G>C (p.Glu2135Gln)
c.5053G>C (p.Glu1685Gln)
1g.207611769G=CA2483456548CR1c.6388G= (p.Glu2130=)
c.5038G= (p.Glu1680=)
c.1180-4806G=
c.6403G= (p.Glu2135=)
c.5053G= (p.Glu1685=)
1g.207611769G>TCA344545120CR1c.6388G>T (p.Glu2130Ter)
c.5038G>T (p.Glu1680Ter)
c.1180-4806G>T
c.6403G>T (p.Glu2135Ter)
c.5053G>T (p.Glu1685Ter)
1g.207611770A>CCA344545122CR1c.6389A>C (p.Glu2130Ala)
c.5039A>C (p.Glu1680Ala)
c.1180-4805A>C
c.6404A>C (p.Glu2135Ala)
c.5054A>C (p.Glu1685Ala)
1g.207611770A>GCA344545123CR1c.6389A>G (p.Glu2130Gly)
c.5039A>G (p.Glu1680Gly)
c.1180-4805A>G
c.6404A>G (p.Glu2135Gly)
c.5054A>G (p.Glu1685Gly)
1g.207611770A>TCA344545121CR1c.6389A>T (p.Glu2130Val)
c.5039A>T (p.Glu1680Val)
c.1180-4805A>T
c.6404A>T (p.Glu2135Val)
c.5054A>T (p.Glu1685Val)
1g.207611771G>ACA422972949CR1c.6390G>A (p.Glu2130=)
c.5040G>A (p.Glu1680=)
c.1180-4804G>A
c.6405G>A (p.Glu2135=)
c.5055G>A (p.Glu1685=)
1g.207611771G>CCA344545124CR1c.6390G>C (p.Glu2130Asp)
c.5040G>C (p.Glu1680Asp)
c.1180-4804G>C
c.6405G>C (p.Glu2135Asp)
c.5055G>C (p.Glu1685Asp)
1g.207611771G>TCA344545125CR1c.6390G>T (p.Glu2130Asp)
c.5040G>T (p.Glu1680Asp)
c.1180-4804G>T
c.6405G>T (p.Glu2135Asp)
c.5055G>T (p.Glu1685Asp)
1g.207611772C>ACA344545126CR1c.6391C>A (p.Pro2131Thr)
c.5041C>A (p.Pro1681Thr)
c.1180-4803C>A
c.6406C>A (p.Pro2136Thr)
c.5056C>A (p.Pro1686Thr)
1g.207611772C>GCA344545127CR1c.6391C>G (p.Pro2131Ala)
c.5041C>G (p.Pro1681Ala)
c.1180-4803C>G
c.6406C>G (p.Pro2136Ala)
c.5056C>G (p.Pro1686Ala)
1g.207611772C>TCA344545128CR1c.6391C>T (p.Pro2131Ser)
c.5041C>T (p.Pro1681Ser)
c.1180-4803C>T
c.6406C>T (p.Pro2136Ser)
c.5056C>T (p.Pro1686Ser)
1g.207611773C>ACA344545129CR1c.6392C>A (p.Pro2131His)
c.5042C>A (p.Pro1681His)
c.1180-4802C>A
c.6407C>A (p.Pro2136His)
c.5057C>A (p.Pro1686His)
1g.207611773C>GCA344545130CR1c.6392C>G (p.Pro2131Arg)
c.5042C>G (p.Pro1681Arg)
c.1180-4802C>G
c.6407C>G (p.Pro2136Arg)
c.5057C>G (p.Pro1686Arg)
1g.207611773C>TCA344545131CR1c.6392C>T (p.Pro2131Leu)
c.5042C>T (p.Pro1681Leu)
c.1180-4802C>T
c.6407C>T (p.Pro2136Leu)
c.5057C>T (p.Pro1686Leu)
1g.207611774C>ACA422972950CR1c.6393C>A (p.Pro2131=)
c.5043C>A (p.Pro1681=)
c.1180-4801C>A
c.6408C>A (p.Pro2136=)
c.5058C>A (p.Pro1686=)
 COSMIC COSMIC
1g.207611774C=CA2483456549CR1c.6393C= (p.Pro2131=)
c.5043C= (p.Pro1681=)
c.1180-4801C=
c.6408C= (p.Pro2136=)
c.5058C= (p.Pro1686=)
1g.207611774C>GCA422972951CR1c.6393C>G (p.Pro2131=)
c.5043C>G (p.Pro1681=)
c.1180-4801C>G
c.6408C>G (p.Pro2136=)
c.5058C>G (p.Pro1686=)
1g.207611774C>TCA422972952CR1c.6393C>T (p.Pro2131=)
c.5043C>T (p.Pro1681=)
c.1180-4801C>T
c.6408C>T (p.Pro2136=)
c.5058C>T (p.Pro1686=)
 dbSNP gnomAD v2
1g.207611775A=CA2483456550CR1c.6394A= (p.Ser2132=)
c.5044A= (p.Ser1682=)
c.1180-4800A=
c.6409A= (p.Ser2137=)
c.5059A= (p.Ser1687=)
1g.207611775A>CCA344545132CR1c.6394A>C (p.Ser2132Arg)
c.5044A>C (p.Ser1682Arg)
c.1180-4800A>C
c.6409A>C (p.Ser2137Arg)
c.5059A>C (p.Ser1687Arg)
1g.207611775A>GCA344545133CR1c.6394A>G (p.Ser2132Gly)
c.5044A>G (p.Ser1682Gly)
c.1180-4800A>G
c.6409A>G (p.Ser2137Gly)
c.5059A>G (p.Ser1687Gly)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.207611775A>TCA344545134CR1c.6394A>T (p.Ser2132Cys)
c.5044A>T (p.Ser1682Cys)
c.1180-4800A>T
c.6409A>T (p.Ser2137Cys)
c.5059A>T (p.Ser1687Cys)
 COSMIC COSMIC
1g.207611776G>ACA344545135CR1c.6395G>A (p.Ser2132Asn)
c.5045G>A (p.Ser1682Asn)
c.1180-4799G>A
c.6410G>A (p.Ser2137Asn)
c.5060G>A (p.Ser1687Asn)
1g.207611776G>CCA344545136CR1c.6395G>C (p.Ser2132Thr)
c.5045G>C (p.Ser1682Thr)
c.1180-4799G>C
c.6410G>C (p.Ser2137Thr)
c.5060G>C (p.Ser1687Thr)
 dbSNP gnomAD v4
1g.207611776G=CA2483456551CR1c.6395G= (p.Ser2132=)
c.5045G= (p.Ser1682=)
c.1180-4799G=
c.6410G= (p.Ser2137=)
c.5060G= (p.Ser1687=)
1g.207611776G>TCA344545137CR1c.6395G>T (p.Ser2132Ile)
c.5045G>T (p.Ser1682Ile)
c.1180-4799G>T
c.6410G>T (p.Ser2137Ile)
c.5060G>T (p.Ser1687Ile)
1g.207611777C>ACA344545139CR1c.6396C>A (p.Ser2132Arg)
c.5046C>A (p.Ser1682Arg)
c.1180-4798C>A
c.6411C>A (p.Ser2137Arg)
c.5061C>A (p.Ser1687Arg)
1g.207611777C=CA2483456552CR1c.6396C= (p.Ser2132=)
c.5046C= (p.Ser1682=)
c.1180-4798C=
c.6411C= (p.Ser2137=)
c.5061C= (p.Ser1687=)
1g.207611777C>GCA344545138CR1c.6396C>G (p.Ser2132Arg)
c.5046C>G (p.Ser1682Arg)
c.1180-4798C>G
c.6411C>G (p.Ser2137Arg)
c.5061C>G (p.Ser1687Arg)
1g.207611777C>TCA1370431CR1c.6396C>T (p.Ser2132=)
c.5046C>T (p.Ser1682=)
c.1180-4798C>T
c.6411C>T (p.Ser2137=)
c.5061C>T (p.Ser1687=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611778T>ACA344545140CR1c.6397T>A (p.Tyr2133Asn)
c.5047T>A (p.Tyr1683Asn)
c.1180-4797T>A
c.6412T>A (p.Tyr2138Asn)
c.5062T>A (p.Tyr1688Asn)
1g.207611778T>CCA344545141CR1c.6397T>C (p.Tyr2133His)
c.5047T>C (p.Tyr1683His)
c.1180-4797T>C
c.6412T>C (p.Tyr2138His)
c.5062T>C (p.Tyr1688His)
1g.207611778T>GCA344545142CR1c.6397T>G (p.Tyr2133Asp)
c.5047T>G (p.Tyr1683Asp)
c.1180-4797T>G
c.6412T>G (p.Tyr2138Asp)
c.5062T>G (p.Tyr1688Asp)
1g.207611779A=CA2483456553CR1c.6398A= (p.Tyr2133=)
c.5048A= (p.Tyr1683=)
c.1180-4796A=
c.6413A= (p.Tyr2138=)
c.5063A= (p.Tyr1688=)
1g.207611779A>CCA344545143CR1c.6398A>C (p.Tyr2133Ser)
c.5048A>C (p.Tyr1683Ser)
c.1180-4796A>C
c.6413A>C (p.Tyr2138Ser)
c.5063A>C (p.Tyr1688Ser)
1g.207611779A>GCA344545144CR1c.6398A>G (p.Tyr2133Cys)
c.5048A>G (p.Tyr1683Cys)
c.1180-4796A>G
c.6413A>G (p.Tyr2138Cys)
c.5063A>G (p.Tyr1688Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611779A>TCA344545145CR1c.6398A>T (p.Tyr2133Phe)
c.5048A>T (p.Tyr1683Phe)
c.1180-4796A>T
c.6413A>T (p.Tyr2138Phe)
c.5063A>T (p.Tyr1688Phe)
1g.207611780T>ACA344545146CR1c.6399T>A (p.Tyr2133Ter)
c.5049T>A (p.Tyr1683Ter)
c.1180-4795T>A
c.6414T>A (p.Tyr2138Ter)
c.5064T>A (p.Tyr1688Ter)
1g.207611780T>CCA422972963CR1c.6399T>C (p.Tyr2133=)
c.5049T>C (p.Tyr1683=)
c.1180-4795T>C
c.6414T>C (p.Tyr2138=)
c.5064T>C (p.Tyr1688=)
 gnomAD v4
1g.207611780T>GCA344545147CR1c.6399T>G (p.Tyr2133Ter)
c.5049T>G (p.Tyr1683Ter)
c.1180-4795T>G
c.6414T>G (p.Tyr2138Ter)
c.5064T>G (p.Tyr1688Ter)
1g.207611781G>ACA344545148CR1c.6400G>A (p.Asp2134Asn)
c.5050G>A (p.Asp1684Asn)
c.1180-4794G>A
c.6415G>A (p.Asp2139Asn)
c.5065G>A (p.Asp1689Asn)
1g.207611781G>CCA344545149CR1c.6400G>C (p.Asp2134His)
c.5050G>C (p.Asp1684His)
c.1180-4794G>C
c.6415G>C (p.Asp2139His)
c.5065G>C (p.Asp1689His)
1g.207611781G=CA2483456554CR1c.6400G= (p.Asp2134=)
c.5050G= (p.Asp1684=)
c.1180-4794G=
c.6415G= (p.Asp2139=)
c.5065G= (p.Asp1689=)
1g.207611781G>TCA1370432CR1c.6400G>T (p.Asp2134Tyr)
c.5050G>T (p.Asp1684Tyr)
c.1180-4794G>T
c.6415G>T (p.Asp2139Tyr)
c.5065G>T (p.Asp1689Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611782A=CA1146972848CR1c.6401A= (p.Asp2134=)
c.5051A= (p.Asp1684=)
c.1180-4793A=
c.6416A= (p.Asp2139=)
c.5066A= (p.Asp1689=)
1g.207611782A>CCA344545151CR1c.6401A>C (p.Asp2134Ala)
c.5051A>C (p.Asp1684Ala)
c.1180-4793A>C
c.6416A>C (p.Asp2139Ala)
c.5066A>C (p.Asp1689Ala)
1g.207611782A>GCA1370433CR1c.6401A>G (p.Asp2134Gly)
c.5051A>G (p.Asp1684Gly)
c.1180-4793A>G
c.6416A>G (p.Asp2139Gly)
c.5066A>G (p.Asp1689Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611782A>TCA344545150CR1c.6401A>T (p.Asp2134Val)
c.5051A>T (p.Asp1684Val)
c.1180-4793A>T
c.6416A>T (p.Asp2139Val)
c.5066A>T (p.Asp1689Val)
 dbSNP
1g.207611783C>ACA344545152CR1c.6402C>A (p.Asp2134Glu)
c.5052C>A (p.Asp1684Glu)
c.1180-4792C>A
c.6417C>A (p.Asp2139Glu)
c.5067C>A (p.Asp1689Glu)
1g.207611783C>GCA344545153CR1c.6402C>G (p.Asp2134Glu)
c.5052C>G (p.Asp1684Glu)
c.1180-4792C>G
c.6417C>G (p.Asp2139Glu)
c.5067C>G (p.Asp1689Glu)
1g.207611783C>TCA422972971CR1c.6402C>T (p.Asp2134=)
c.5052C>T (p.Asp1684=)
c.1180-4792C>T
c.6417C>T (p.Asp2139=)
c.5067C>T (p.Asp1689=)
 gnomAD v4
1g.207611784C>ACA344545154CR1c.6403C>A (p.Leu2135Ile)
c.5053C>A (p.Leu1685Ile)
c.1180-4791C>A
c.6418C>A (p.Leu2140Ile)
c.5068C>A (p.Leu1690Ile)
1g.207611784C>GCA344545155CR1c.6403C>G (p.Leu2135Val)
c.5053C>G (p.Leu1685Val)
c.1180-4791C>G
c.6418C>G (p.Leu2140Val)
c.5068C>G (p.Leu1690Val)
1g.207611784C>TCA344545156CR1c.6403C>T (p.Leu2135Phe)
c.5053C>T (p.Leu1685Phe)
c.1180-4791C>T
c.6418C>T (p.Leu2140Phe)
c.5068C>T (p.Leu1690Phe)
1g.207611785T>ACA344545157CR1c.6404T>A (p.Leu2135His)
c.5054T>A (p.Leu1685His)
c.1180-4790T>A
c.6419T>A (p.Leu2140His)
c.5069T>A (p.Leu1690His)
1g.207611785T>CCA344545158CR1c.6404T>C (p.Leu2135Pro)
c.5054T>C (p.Leu1685Pro)
c.1180-4790T>C
c.6419T>C (p.Leu2140Pro)
c.5069T>C (p.Leu1690Pro)
1g.207611785T>GCA344545159CR1c.6404T>G (p.Leu2135Arg)
c.5054T>G (p.Leu1685Arg)
c.1180-4790T>G
c.6419T>G (p.Leu2140Arg)
c.5069T>G (p.Leu1690Arg)
1g.207611786C>ACA422972979CR1c.6405C>A (p.Leu2135=)
c.5055C>A (p.Leu1685=)
c.1180-4789C>A
c.6420C>A (p.Leu2140=)
c.5070C>A (p.Leu1690=)
 COSMIC COSMIC
1g.207611786C=CA2483456555CR1c.6405C= (p.Leu2135=)
c.5055C= (p.Leu1685=)
c.1180-4789C=
c.6420C= (p.Leu2140=)
c.5070C= (p.Leu1690=)
1g.207611786C>GCA422972977CR1c.6405C>G (p.Leu2135=)
c.5055C>G (p.Leu1685=)
c.1180-4789C>G
c.6420C>G (p.Leu2140=)
c.5070C>G (p.Leu1690=)
1g.207611786C>TCA1370434CR1c.6405C>T (p.Leu2135=)
c.5055C>T (p.Leu1685=)
c.1180-4789C>T
c.6420C>T (p.Leu2140=)
c.5070C>T (p.Leu1690=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611787A>CCA422972980CR1c.6406A>C (p.Arg2136=)
c.5056A>C (p.Arg1686=)
c.1180-4788A>C
c.6421A>C (p.Arg2141=)
c.5071A>C (p.Arg1691=)
1g.207611787A>GCA344545160CR1c.6406A>G (p.Arg2136Gly)
c.5056A>G (p.Arg1686Gly)
c.1180-4788A>G
c.6421A>G (p.Arg2141Gly)
c.5071A>G (p.Arg1691Gly)
1g.207611787A>TCA344545161CR1c.6406A>T (p.Arg2136Ter)
c.5056A>T (p.Arg1686Ter)
c.1180-4788A>T
c.6421A>T (p.Arg2141Ter)
c.5071A>T (p.Arg1691Ter)
1g.207611788G>ACA344545162CR1c.6407G>A (p.Arg2136Lys)
c.5057G>A (p.Arg1686Lys)
c.1180-4787G>A
c.6422G>A (p.Arg2141Lys)
c.5072G>A (p.Arg1691Lys)
1g.207611788G>CCA344545163CR1c.6407G>C (p.Arg2136Thr)
c.5057G>C (p.Arg1686Thr)
c.1180-4787G>C
c.6422G>C (p.Arg2141Thr)
c.5072G>C (p.Arg1691Thr)
1g.207611788G>TCA344545164CR1c.6407G>T (p.Arg2136Ile)
c.5057G>T (p.Arg1686Ile)
c.1180-4787G>T
c.6422G>T (p.Arg2141Ile)
c.5072G>T (p.Arg1691Ile)
1g.207611789A=CA2483456556CR1c.6408A= (p.Arg2136=)
c.5058A= (p.Arg1686=)
c.1180-4786A=
c.6423A= (p.Arg2141=)
c.5073A= (p.Arg1691=)
1g.207611789A>CCA344545165CR1c.6408A>C (p.Arg2136Ser)
c.5058A>C (p.Arg1686Ser)
c.1180-4786A>C
c.6423A>C (p.Arg2141Ser)
c.5073A>C (p.Arg1691Ser)
1g.207611789A>GCA422972983CR1c.6408A>G (p.Arg2136=)
c.5058A>G (p.Arg1686=)
c.1180-4786A>G
c.6423A>G (p.Arg2141=)
c.5073A>G (p.Arg1691=)
1g.207611789A>TCA344545166CR1c.6408A>T (p.Arg2136Ser)
c.5058A>T (p.Arg1686Ser)
c.1180-4786A>T
c.6423A>T (p.Arg2141Ser)
c.5073A>T (p.Arg1691Ser)
1g.207611790G>ACA344545167CR1c.6409G>A (p.Gly2137Arg)
c.5059G>A (p.Gly1687Arg)
c.1180-4785G>A
c.6424G>A (p.Gly2142Arg)
c.5074G>A (p.Gly1692Arg)
 gnomAD v4
1g.207611790G>CCA36655222CR1c.6409G>C (p.Gly2137Arg)
c.5059G>C (p.Gly1687Arg)
c.1180-4785G>C
c.6424G>C (p.Gly2142Arg)
c.5074G>C (p.Gly1692Arg)
 dbSNP gnomAD v4
1g.207611790G=CA2483456557CR1c.6409G= (p.Gly2137=)
c.5059G= (p.Gly1687=)
c.1180-4785G=
c.6424G= (p.Gly2142=)
c.5074G= (p.Gly1692=)
1g.207611790G>TCA344545168CR1c.6409G>T (p.Gly2137Trp)
c.5059G>T (p.Gly1687Trp)
c.1180-4785G>T
c.6424G>T (p.Gly2142Trp)
c.5074G>T (p.Gly1692Trp)
1g.207611790_207611793delinsGGGGCA1140518296CR1c.6409_6412delinsGGGG (p.Gly2137=)
c.5059_5062delinsGGGG (p.Gly1687=)
c.1180-4785_1180-4782delinsGGGG
c.6424_6427delinsGGGG (p.Gly2142=)
c.5074_5077delinsGGGG (p.Gly1692=)
1g.207611793dupCA36655221CR1c.6412dup (p.Ala2138GlyfsTer15)
c.5062dup (p.Ala1688GlyfsTer15)
c.1180-4782dup
c.6427dup (p.Ala2143GlyfsTer15)
c.5077dup (p.Ala1693GlyfsTer15)
 dbSNP
1g.207611791G>ACA1370435CR1c.6410G>A (p.Gly2137Glu)
c.5060G>A (p.Gly1687Glu)
c.1180-4784G>A
c.6425G>A (p.Gly2142Glu)
c.5075G>A (p.Gly1692Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611791G>CCA344545169CR1c.6410G>C (p.Gly2137Ala)
c.5060G>C (p.Gly1687Ala)
c.1180-4784G>C
c.6425G>C (p.Gly2142Ala)
c.5075G>C (p.Gly1692Ala)
1g.207611791G=CA2483456558CR1c.6410G= (p.Gly2137=)
c.5060G= (p.Gly1687=)
c.1180-4784G=
c.6425G= (p.Gly2142=)
c.5075G= (p.Gly1692=)
1g.207611791G>TCA344545170CR1c.6410G>T (p.Gly2137Val)
c.5060G>T (p.Gly1687Val)
c.1180-4784G>T
c.6425G>T (p.Gly2142Val)
c.5075G>T (p.Gly1692Val)
1g.207611792G>ACA422972991CR1c.6411G>A (p.Gly2137=)
c.5061G>A (p.Gly1687=)
c.1180-4783G>A
c.6426G>A (p.Gly2142=)
c.5076G>A (p.Gly1692=)
1g.207611792G>CCA422972993CR1c.6411G>C (p.Gly2137=)
c.5061G>C (p.Gly1687=)
c.1180-4783G>C
c.6426G>C (p.Gly2142=)
c.5076G>C (p.Gly1692=)
1g.207611792G>TCA422972994CR1c.6411G>T (p.Gly2137=)
c.5061G>T (p.Gly1687=)
c.1180-4783G>T
c.6426G>T (p.Gly2142=)
c.5076G>T (p.Gly1692=)
1g.207611793G>ACA344545171CR1c.6412G>A (p.Ala2138Thr)
c.5062G>A (p.Ala1688Thr)
c.1180-4782G>A
c.6427G>A (p.Ala2143Thr)
c.5077G>A (p.Ala1693Thr)
 dbSNP gnomAD v4
1g.207611793G>CCA344545172CR1c.6412G>C (p.Ala2138Pro)
c.5062G>C (p.Ala1688Pro)
c.1180-4782G>C
c.6427G>C (p.Ala2143Pro)
c.5077G>C (p.Ala1693Pro)
1g.207611793G=CA2483456559CR1c.6412G= (p.Ala2138=)
c.5062G= (p.Ala1688=)
c.1180-4782G=
c.6427G= (p.Ala2143=)
c.5077G= (p.Ala1693=)
1g.207611793G>TCA344545173CR1c.6412G>T (p.Ala2138Ser)
c.5062G>T (p.Ala1688Ser)
c.1180-4782G>T
c.6427G>T (p.Ala2143Ser)
c.5077G>T (p.Ala1693Ser)
1g.207611794C>ACA344545174CR1c.6413C>A (p.Ala2138Asp)
c.5063C>A (p.Ala1688Asp)
c.1180-4781C>A
c.6428C>A (p.Ala2143Asp)
c.5078C>A (p.Ala1693Asp)
1g.207611794C>GCA344545175CR1c.6413C>G (p.Ala2138Gly)
c.5063C>G (p.Ala1688Gly)
c.1180-4781C>G
c.6428C>G (p.Ala2143Gly)
c.5078C>G (p.Ala1693Gly)
1g.207611794C>TCA344545176CR1c.6413C>T (p.Ala2138Val)
c.5063C>T (p.Ala1688Val)
c.1180-4781C>T
c.6428C>T (p.Ala2143Val)
c.5078C>T (p.Ala1693Val)
1g.207611795T>ACA422973002CR1c.6414T>A (p.Ala2138=)
c.5064T>A (p.Ala1688=)
c.1180-4780T>A
c.6429T>A (p.Ala2143=)
c.5079T>A (p.Ala1693=)
1g.207611795T>CCA422973003CR1c.6414T>C (p.Ala2138=)
c.5064T>C (p.Ala1688=)
c.1180-4780T>C
c.6429T>C (p.Ala2143=)
c.5079T>C (p.Ala1693=)
1g.207611795T>GCA422973001CR1c.6414T>G (p.Ala2138=)
c.5064T>G (p.Ala1688=)
c.1180-4780T>G
c.6429T>G (p.Ala2143=)
c.5079T>G (p.Ala1693=)
1g.207611796G>ACA36655224CR1c.6415G>A (p.Ala2139Thr)
c.5065G>A (p.Ala1689Thr)
c.1180-4779G>A
c.6430G>A (p.Ala2144Thr)
c.5080G>A (p.Ala1694Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.207611796G>CCA344545177CR1c.6415G>C (p.Ala2139Pro)
c.5065G>C (p.Ala1689Pro)
c.1180-4779G>C
c.6430G>C (p.Ala2144Pro)
c.5080G>C (p.Ala1694Pro)
1g.207611796G=CA2483456560CR1c.6415G= (p.Ala2139=)
c.5065G= (p.Ala1689=)
c.1180-4779G=
c.6430G= (p.Ala2144=)
c.5080G= (p.Ala1694=)
1g.207611796G>TCA344545178CR1c.6415G>T (p.Ala2139Ser)
c.5065G>T (p.Ala1689Ser)
c.1180-4779G>T
c.6430G>T (p.Ala2144Ser)
c.5080G>T (p.Ala1694Ser)
1g.207611797C>ACA344545179CR1c.6416C>A (p.Ala2139Glu)
c.5066C>A (p.Ala1689Glu)
c.1180-4778C>A
c.6431C>A (p.Ala2144Glu)
c.5081C>A (p.Ala1694Glu)
1g.207611797C=CA2483456561CR1c.6416C= (p.Ala2139=)
c.5066C= (p.Ala1689=)
c.1180-4778C=
c.6431C= (p.Ala2144=)
c.5081C= (p.Ala1694=)
1g.207611797C>GCA344545180CR1c.6416C>G (p.Ala2139Gly)
c.5066C>G (p.Ala1689Gly)
c.1180-4778C>G
c.6431C>G (p.Ala2144Gly)
c.5081C>G (p.Ala1694Gly)
1g.207611797C>TCA1370436CR1c.6416C>T (p.Ala2139Val)
c.5066C>T (p.Ala1689Val)
c.1180-4778C>T
c.6431C>T (p.Ala2144Val)
c.5081C>T (p.Ala1694Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611798G>ACA422973010CR1c.6417G>A (p.Ala2139=)
c.5067G>A (p.Ala1689=)
c.1180-4777G>A
c.6432G>A (p.Ala2144=)
c.5082G>A (p.Ala1694=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611798G>CCA422973011CR1c.6417G>C (p.Ala2139=)
c.5067G>C (p.Ala1689=)
c.1180-4777G>C
c.6432G>C (p.Ala2144=)
c.5082G>C (p.Ala1694=)
1g.207611798G=CA2483456562CR1c.6417G= (p.Ala2139=)
c.5067G= (p.Ala1689=)
c.1180-4777G=
c.6432G= (p.Ala2144=)
c.5082G= (p.Ala1694=)
1g.207611798G>TCA422973013CR1c.6417G>T (p.Ala2139=)
c.5067G>T (p.Ala1689=)
c.1180-4777G>T
c.6432G>T (p.Ala2144=)
c.5082G>T (p.Ala1694=)
1g.207611799T>ACA344545181CR1c.6418T>A (p.Ser2140Thr)
c.5068T>A (p.Ser1690Thr)
c.1180-4776T>A
c.6433T>A (p.Ser2145Thr)
c.5083T>A (p.Ser1695Thr)
1g.207611799T>CCA344545182CR1c.6418T>C (p.Ser2140Pro)
c.5068T>C (p.Ser1690Pro)
c.1180-4776T>C
c.6433T>C (p.Ser2145Pro)
c.5083T>C (p.Ser1695Pro)
 dbSNP gnomAD v4
1g.207611799T>GCA344545183CR1c.6418T>G (p.Ser2140Ala)
c.5068T>G (p.Ser1690Ala)
c.1180-4776T>G
c.6433T>G (p.Ser2145Ala)
c.5083T>G (p.Ser1695Ala)
1g.207611799T=CA2483456563CR1c.6418T= (p.Ser2140=)
c.5068T= (p.Ser1690=)
c.1180-4776T=
c.6433T= (p.Ser2145=)
c.5083T= (p.Ser1695=)
1g.207611800C>ACA344545184CR1c.6419C>A (p.Ser2140Tyr)
c.5069C>A (p.Ser1690Tyr)
c.1180-4775C>A
c.6434C>A (p.Ser2145Tyr)
c.5084C>A (p.Ser1695Tyr)
1g.207611800C=CA2483456564CR1c.6419C= (p.Ser2140=)
c.5069C= (p.Ser1690=)
c.1180-4775C=
c.6434C= (p.Ser2145=)
c.5084C= (p.Ser1695=)
1g.207611800C>GCA1370437CR1c.6419C>G (p.Ser2140Cys)
c.5069C>G (p.Ser1690Cys)
c.1180-4775C>G
c.6434C>G (p.Ser2145Cys)
c.5084C>G (p.Ser1695Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.207611800C>TCA1370438CR1c.6419C>T (p.Ser2140Phe)
c.5069C>T (p.Ser1690Phe)
c.1180-4775C>T
c.6434C>T (p.Ser2145Phe)
c.5084C>T (p.Ser1695Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611801T>ACA422973022CR1c.6420T>A (p.Ser2140=)
c.5070T>A (p.Ser1690=)
c.1180-4774T>A
c.6435T>A (p.Ser2145=)
c.5085T>A (p.Ser1695=)
1g.207611801T>CCA422973023CR1c.6420T>C (p.Ser2140=)
c.5070T>C (p.Ser1690=)
c.1180-4774T>C
c.6435T>C (p.Ser2145=)
c.5085T>C (p.Ser1695=)
1g.207611801T>GCA422973025CR1c.6420T>G (p.Ser2140=)
c.5070T>G (p.Ser1690=)
c.1180-4774T>G
c.6435T>G (p.Ser2145=)
c.5085T>G (p.Ser1695=)
1g.207611802C>ACA344545185CR1c.6421C>A (p.Leu2141Met)
c.5071C>A (p.Leu1691Met)
c.1180-4773C>A
c.6436C>A (p.Leu2146Met)
c.5086C>A (p.Leu1696Met)
 COSMIC COSMIC
1g.207611802C=CA2483456565CR1c.6421C= (p.Leu2141=)
c.5071C= (p.Leu1691=)
c.1180-4773C=
c.6436C= (p.Leu2146=)
c.5086C= (p.Leu1696=)
1g.207611802C>GCA344545186CR1c.6421C>G (p.Leu2141Val)
c.5071C>G (p.Leu1691Val)
c.1180-4773C>G
c.6436C>G (p.Leu2146Val)
c.5086C>G (p.Leu1696Val)
1g.207611802C>TCA422973028CR1c.6421C>T (p.Leu2141=)
c.5071C>T (p.Leu1691=)
c.1180-4773C>T
c.6436C>T (p.Leu2146=)
c.5086C>T (p.Leu1696=)
 dbSNP gnomAD v3 gnomAD v4
1g.207611803T>ACA344545187CR1c.6422T>A (p.Leu2141Gln)
c.5072T>A (p.Leu1691Gln)
c.1180-4772T>A
c.6437T>A (p.Leu2146Gln)
c.5087T>A (p.Leu1696Gln)
1g.207611803T>CCA344545188CR1c.6422T>C (p.Leu2141Pro)
c.5072T>C (p.Leu1691Pro)
c.1180-4772T>C
c.6437T>C (p.Leu2146Pro)
c.5087T>C (p.Leu1696Pro)
1g.207611803T>GCA344545189CR1c.6422T>G (p.Leu2141Arg)
c.5072T>G (p.Leu1691Arg)
c.1180-4772T>G
c.6437T>G (p.Leu2146Arg)
c.5087T>G (p.Leu1696Arg)
 gnomAD v4
1g.207611804G>ACA422973032CR1c.6423G>A (p.Leu2141=)
c.5073G>A (p.Leu1691=)
c.1180-4771G>A
c.6438G>A (p.Leu2146=)
c.5088G>A (p.Leu1696=)
 dbSNP gnomAD v2 gnomAD v4
1g.207611804G>CCA422973034CR1c.6423G>C (p.Leu2141=)
c.5073G>C (p.Leu1691=)
c.1180-4771G>C
c.6438G>C (p.Leu2146=)
c.5088G>C (p.Leu1696=)
1g.207611804G=CA2483456566CR1c.6423G= (p.Leu2141=)
c.5073G= (p.Leu1691=)
c.1180-4771G=
c.6438G= (p.Leu2146=)
c.5088G= (p.Leu1696=)
1g.207611804G>TCA422973037CR1c.6423G>T (p.Leu2141=)
c.5073G>T (p.Leu1691=)
c.1180-4771G>T
c.6438G>T (p.Leu2146=)
c.5088G>T (p.Leu1696=)
1g.207611805C>ACA344545192CR1c.6424C>A (p.His2142Asn)
c.5074C>A (p.His1692Asn)
c.1180-4770C>A
c.6439C>A (p.His2147Asn)
c.5089C>A (p.His1697Asn)
1g.207611805C>GCA344545191CR1c.6424C>G (p.His2142Asp)
c.5074C>G (p.His1692Asp)
c.1180-4770C>G
c.6439C>G (p.His2147Asp)
c.5089C>G (p.His1697Asp)
1g.207611805C>TCA344545190CR1c.6424C>T (p.His2142Tyr)
c.5074C>T (p.His1692Tyr)
c.1180-4770C>T
c.6439C>T (p.His2147Tyr)
c.5089C>T (p.His1697Tyr)
1g.207611806A>CCA344545193CR1c.6425A>C (p.His2142Pro)
c.5075A>C (p.His1692Pro)
c.1180-4769A>C
c.6440A>C (p.His2147Pro)
c.5090A>C (p.His1697Pro)
1g.207611806A>GCA344545194CR1c.6425A>G (p.His2142Arg)
c.5075A>G (p.His1692Arg)
c.1180-4769A>G
c.6440A>G (p.His2147Arg)
c.5090A>G (p.His1697Arg)
1g.207611806A>TCA344545195CR1c.6425A>T (p.His2142Leu)
c.5075A>T (p.His1692Leu)
c.1180-4769A>T
c.6440A>T (p.His2147Leu)
c.5090A>T (p.His1697Leu)
1g.207611807C>ACA344545196CR1c.6426C>A (p.His2142Gln)
c.5076C>A (p.His1692Gln)
c.1180-4768C>A
c.6441C>A (p.His2147Gln)
c.5091C>A (p.His1697Gln)
1g.207611807C=CA2483456567CR1c.6426C= (p.His2142=)
c.5076C= (p.His1692=)
c.1180-4768C=
c.6441C= (p.His2147=)
c.5091C= (p.His1697=)
1g.207611807C>GCA344545197CR1c.6426C>G (p.His2142Gln)
c.5076C>G (p.His1692Gln)
c.1180-4768C>G
c.6441C>G (p.His2147Gln)
c.5091C>G (p.His1697Gln)
1g.207611807C>TCA1370439CR1c.6426C>T (p.His2142=)
c.5076C>T (p.His1692=)
c.1180-4768C>T
c.6441C>T (p.His2147=)
c.5091C>T (p.His1697=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611808T>ACA344545198CR1c.6427T>A (p.Cys2143Ser)
c.5077T>A (p.Cys1693Ser)
c.1180-4767T>A
c.6442T>A (p.Cys2148Ser)
c.5092T>A (p.Cys1698Ser)
 COSMIC COSMIC
1g.207611808T>CCA1370440CR1c.6427T>C (p.Cys2143Arg)
c.5077T>C (p.Cys1693Arg)
c.1180-4767T>C
c.6442T>C (p.Cys2148Arg)
c.5092T>C (p.Cys1698Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.207611808T>GCA344545199CR1c.6427T>G (p.Cys2143Gly)
c.5077T>G (p.Cys1693Gly)
c.1180-4767T>G
c.6442T>G (p.Cys2148Gly)
c.5092T>G (p.Cys1698Gly)
1g.207611808T=CA2483456568CR1c.6427T= (p.Cys2143=)
c.5077T= (p.Cys1693=)
c.1180-4767T=
c.6442T= (p.Cys2148=)
c.5092T= (p.Cys1698=)
1g.207611809G>ACA344545200CR1c.6428G>A (p.Cys2143Tyr)
c.5078G>A (p.Cys1693Tyr)
c.1180-4766G>A
c.6443G>A (p.Cys2148Tyr)
c.5093G>A (p.Cys1698Tyr)
1g.207611809G>CCA344545201CR1c.6428G>C (p.Cys2143Ser)
c.5078G>C (p.Cys1693Ser)
c.1180-4766G>C
c.6443G>C (p.Cys2148Ser)
c.5093G>C (p.Cys1698Ser)
1g.207611809G>TCA344545202CR1c.6428G>T (p.Cys2143Phe)
c.5078G>T (p.Cys1693Phe)
c.1180-4766G>T
c.6443G>T (p.Cys2148Phe)
c.5093G>T (p.Cys1698Phe)
1g.207611810C>ACA344545203CR1c.6429C>A (p.Cys2143Ter)
c.5079C>A (p.Cys1693Ter)
c.1180-4765C>A
c.6444C>A (p.Cys2148Ter)
c.5094C>A (p.Cys1698Ter)
1g.207611810C=CA2483456569CR1c.6429C= (p.Cys2143=)
c.5079C= (p.Cys1693=)
c.1180-4765C=
c.6444C= (p.Cys2148=)
c.5094C= (p.Cys1698=)
1g.207611810C>GCA344545204CR1c.6429C>G (p.Cys2143Trp)
c.5079C>G (p.Cys1693Trp)
c.1180-4765C>G
c.6444C>G (p.Cys2148Trp)
c.5094C>G (p.Cys1698Trp)
 dbSNP gnomAD v2 gnomAD v4
1g.207611810C>TCA422973053CR1c.6429C>T (p.Cys2143=)
c.5079C>T (p.Cys1693=)
c.1180-4765C>T
c.6444C>T (p.Cys2148=)
c.5094C>T (p.Cys1698=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.207611811A>CCA344545206CR1c.6430A>C (p.Thr2144Pro)
c.5080A>C (p.Thr1694Pro)
c.1180-4764A>C
c.6445A>C (p.Thr2149Pro)
c.5095A>C (p.Thr1699Pro)
1g.207611811A>GCA344545207CR1c.6430A>G (p.Thr2144Ala)
c.5080A>G (p.Thr1694Ala)
c.1180-4764A>G
c.6445A>G (p.Thr2149Ala)
c.5095A>G (p.Thr1699Ala)
 ClinVar
1g.207611811A>TCA344545205CR1c.6430A>T (p.Thr2144Ser)
c.5080A>T (p.Thr1694Ser)
c.1180-4764A>T
c.6445A>T (p.Thr2149Ser)
c.5095A>T (p.Thr1699Ser)
1g.207611812C>ACA344545208CR1c.6431C>A (p.Thr2144Lys)
c.5081C>A (p.Thr1694Lys)
c.1180-4763C>A
c.6446C>A (p.Thr2149Lys)
c.5096C>A (p.Thr1699Lys)
 dbSNP gnomAD v4
1g.207611812C=CA1143725981CR1c.6431C= (p.Thr2144=)
c.5081C= (p.Thr1694=)
c.1180-4763C=
c.6446C= (p.Thr2149=)
c.5096C= (p.Thr1699=)
1g.207611812C>GCA344545209CR1c.6431C>G (p.Thr2144Arg)
c.5081C>G (p.Thr1694Arg)
c.1180-4763C>G
c.6446C>G (p.Thr2149Arg)
c.5096C>G (p.Thr1699Arg)
1g.207611812C>TCA1370441CR1c.6431C>T (p.Thr2144Met)
c.5081C>T (p.Thr1694Met)
c.1180-4763C>T
c.6446C>T (p.Thr2149Met)
c.5096C>T (p.Thr1699Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611813G>ACA1370442CR1c.6432G>A (p.Thr2144=)
c.5082G>A (p.Thr1694=)
c.1180-4762G>A
c.6447G>A (p.Thr2149=)
c.5097G>A (p.Thr1699=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.207611813G>CCA422973060CR1c.6432G>C (p.Thr2144=)
c.5082G>C (p.Thr1694=)
c.1180-4762G>C
c.6447G>C (p.Thr2149=)
c.5097G>C (p.Thr1699=)
1g.207611813G=CA1143950609CR1c.6432G= (p.Thr2144=)
c.5082G= (p.Thr1694=)
c.1180-4762G=
c.6447G= (p.Thr2149=)
c.5097G= (p.Thr1699=)
1g.207611813G>TCA422973059CR1c.6432G>T (p.Thr2144=)
c.5082G>T (p.Thr1694=)
c.1180-4762G>T
c.6447G>T (p.Thr2149=)
c.5097G>T (p.Thr1699=)

Number of alleles fetched