Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99910676_99910681delinsTATAAACA1183941594AGLc.3701-36_3701-31delinsTATAAA (n.3701-36_3701-31delinsTATAAA)
n.3912-36_3912-31delinsTATAAA
c.3653-36_3653-31delinsTATAAA (n.3653-36_3653-31delinsTATAAA)
c.3650-36_3650-31delinsTATAAA (n.3650-36_3650-31delinsTATAAA)
c.1961-36_1961-31delinsTATAAA (n.1961-36_1961-31delinsTATAAA)
1g.99910679_99910683delCA741018998AGLc.3701-33_3701-29del (n.3701-33_3701-29del)
n.3912-33_3912-29del
c.3653-33_3653-29del (n.3653-33_3653-29del)
c.3650-33_3650-29del (n.3650-33_3650-29del)
c.1961-33_1961-29del (n.1961-33_1961-29del)
 dbSNP
1g.99910678_99910680delinsTAACA1183941597AGLc.3701-34_3701-32delinsTAA (n.3701-34_3701-32delinsTAA)
n.3912-34_3912-32delinsTAA
c.3653-34_3653-32delinsTAA (n.3653-34_3653-32delinsTAA)
c.3650-34_3650-32delinsTAA (n.3650-34_3650-32delinsTAA)
c.1961-34_1961-32delinsTAA (n.1961-34_1961-32delinsTAA)
1g.99910679A>GCA2574444696AGLc.3701-33A>G (n.3701-33A>G)
n.3912-33A>G
c.3653-33A>G (n.3653-33A>G)
c.3650-33A>G (n.3650-33A>G)
c.1961-33A>G (n.1961-33A>G)
1g.99910679A>TCA2646738674AGLc.3701-33A>T (n.3701-33A>T)
n.3912-33A>T
c.3653-33A>T (n.3653-33A>T)
c.3650-33A>T (n.3650-33A>T)
c.1961-33A>T (n.1961-33A>T)
 gnomAD v4
1g.99910682delCA2574444695AGLc.3701-30del (n.3701-30del)
n.3912-30del
c.3653-30del (n.3653-30del)
c.3650-30del (n.3650-30del)
c.1961-30del (n.1961-30del)
1g.99910681_99910682delCA524710404AGLc.3701-31_3701-30del (n.3701-31_3701-30del)
n.3912-31_3912-30del
c.3653-31_3653-30del (n.3653-31_3653-30del)
c.3650-31_3650-30del (n.3650-31_3650-30del)
c.1961-31_1961-30del (n.1961-31_1961-30del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99910680A=CA1183941598AGLc.3701-32A= (n.3701-32A=)
n.3912-32A=
c.3653-32A= (n.3653-32A=)
c.3650-32A= (n.3650-32A=)
c.1961-32A= (n.1961-32A=)
1g.99910680A>CCA2646738676AGLc.3701-32A>C (n.3701-32A>C)
n.3912-32A>C
c.3653-32A>C (n.3653-32A>C)
c.3650-32A>C (n.3650-32A>C)
c.1961-32A>C (n.1961-32A>C)
 gnomAD v4
1g.99910680A>GCA1183941599AGLc.3701-32A>G (n.3701-32A>G)
n.3912-32A>G
c.3653-32A>G (n.3653-32A>G)
c.3650-32A>G (n.3650-32A>G)
c.1961-32A>G (n.1961-32A>G)
 dbSNP
1g.99910680_99910684delCA2646738675AGLc.3701-32_3701-28del (n.3701-32_3701-28del)
n.3912-32_3912-28del
c.3653-32_3653-28del (n.3653-32_3653-28del)
c.3650-32_3650-28del (n.3650-32_3650-28del)
c.1961-32_1961-28del (n.1961-32_1961-28del)
 gnomAD v4
1g.99910681A=CA1183941600AGLc.3701-31A= (n.3701-31A=)
n.3912-31A=
c.3653-31A= (n.3653-31A=)
c.3650-31A= (n.3650-31A=)
c.1961-31A= (n.1961-31A=)
1g.99910681A>TCA1183941601AGLc.3701-31A>T (n.3701-31A>T)
n.3912-31A>T
c.3653-31A>T (n.3653-31A>T)
c.3650-31A>T (n.3650-31A>T)
c.1961-31A>T (n.1961-31A>T)
 dbSNP
1g.99910681_99910686delinsAATTTTCA1183941602AGLc.3701-31_3701-26delinsAATTTT (n.3701-31_3701-26delinsAATTTT)
n.3912-31_3912-26delinsAATTTT
c.3653-31_3653-26delinsAATTTT (n.3653-31_3653-26delinsAATTTT)
c.3650-31_3650-26delinsAATTTT (n.3650-31_3650-26delinsAATTTT)
c.1961-31_1961-26delinsAATTTT (n.1961-31_1961-26delinsAATTTT)
1g.99910689_99910693delCA524710405AGLc.3701-23_3701-19del (n.3701-23_3701-19del)
n.3912-23_3912-19del
c.3653-23_3653-19del (n.3653-23_3653-19del)
c.3650-23_3650-19del (n.3650-23_3650-19del)
c.1961-23_1961-19del (n.1961-23_1961-19del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99910683T>CCA524710406AGLc.3701-29T>C (n.3701-29T>C)
n.3912-29T>C
c.3653-29T>C (n.3653-29T>C)
c.3650-29T>C (n.3650-29T>C)
c.1961-29T>C (n.1961-29T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.99910683T>GCA2646738677AGLc.3701-29T>G (n.3701-29T>G)
n.3912-29T>G
c.3653-29T>G (n.3653-29T>G)
c.3650-29T>G (n.3650-29T>G)
c.1961-29T>G (n.1961-29T>G)
 gnomAD v4
1g.99910683T=CA1183941603AGLc.3701-29T= (n.3701-29T=)
n.3912-29T=
c.3653-29T= (n.3653-29T=)
c.3650-29T= (n.3650-29T=)
c.1961-29T= (n.1961-29T=)
1g.99910684T>ACA1183941605AGLc.3701-28T>A (n.3701-28T>A)
n.3912-28T>A
c.3653-28T>A (n.3653-28T>A)
c.3650-28T>A (n.3650-28T>A)
c.1961-28T>A (n.1961-28T>A)
 dbSNP
1g.99910684T=CA1183941604AGLc.3701-28T= (n.3701-28T=)
n.3912-28T=
c.3653-28T= (n.3653-28T=)
c.3650-28T= (n.3650-28T=)
c.1961-28T= (n.1961-28T=)
1g.99910685T>ACA2574444698AGLc.3701-27T>A (n.3701-27T>A)
n.3912-27T>A
c.3653-27T>A (n.3653-27T>A)
c.3650-27T>A (n.3650-27T>A)
c.1961-27T>A (n.1961-27T>A)
1g.99910685T>GCA967192AGLc.3701-27T>G (n.3701-27T>G)
n.3912-27T>G
c.3653-27T>G (n.3653-27T>G)
c.3650-27T>G (n.3650-27T>G)
c.1961-27T>G (n.1961-27T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910685T=CA1183941606AGLc.3701-27T= (n.3701-27T=)
n.3912-27T=
c.3653-27T= (n.3653-27T=)
c.3650-27T= (n.3650-27T=)
c.1961-27T= (n.1961-27T=)
1g.99910686T>ACA2574444699AGLc.3701-26T>A (n.3701-26T>A)
n.3912-26T>A
c.3653-26T>A (n.3653-26T>A)
c.3650-26T>A (n.3650-26T>A)
c.1961-26T>A (n.1961-26T>A)
1g.99910687A=CA1183941607AGLc.3701-25A= (n.3701-25A=)
n.3912-25A=
c.3653-25A= (n.3653-25A=)
c.3650-25A= (n.3650-25A=)
c.1961-25A= (n.1961-25A=)
1g.99910687A>GCA1183941608AGLc.3701-25A>G (n.3701-25A>G)
n.3912-25A>G
c.3653-25A>G (n.3653-25A>G)
c.3650-25A>G (n.3650-25A>G)
c.1961-25A>G (n.1961-25A>G)
 dbSNP gnomAD v4
1g.99910687A>TCA524710407AGLc.3701-25A>T (n.3701-25A>T)
n.3912-25A>T
c.3653-25A>T (n.3653-25A>T)
c.3650-25A>T (n.3650-25A>T)
c.1961-25A>T (n.1961-25A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.99910688T>CCA2646738680AGLc.3701-24T>C (n.3701-24T>C)
n.3912-24T>C
c.3653-24T>C (n.3653-24T>C)
c.3650-24T>C (n.3650-24T>C)
c.1961-24T>C (n.1961-24T>C)
 gnomAD v4
1g.99910691dupCA524710408AGLc.3701-21dup (n.3701-21dup)
n.3912-21dup
c.3653-21dup (n.3653-21dup)
c.3650-21dup (n.3650-21dup)
c.1961-21dup (n.1961-21dup)
 dbSNP gnomAD v2 gnomAD v4
1g.99910691delCA2646738678AGLc.3701-21del (n.3701-21del)
n.3912-21del
c.3653-21del (n.3653-21del)
c.3650-21del (n.3650-21del)
c.1961-21del (n.1961-21del)
 gnomAD v4
1g.99910690_99910702delCA2646738679AGLc.3701-22_3701-10del (n.3701-22_3701-10del)
n.3912-22_3912-10del
c.3653-22_3653-10del (n.3653-22_3653-10del)
c.3650-22_3650-10del (n.3650-22_3650-10del)
c.1961-22_1961-10del (n.1961-22_1961-10del)
 gnomAD v4
1g.99910689T>CCA2646738681AGLc.3701-23T>C (n.3701-23T>C)
n.3912-23T>C
c.3653-23T>C (n.3653-23T>C)
c.3650-23T>C (n.3650-23T>C)
c.1961-23T>C (n.1961-23T>C)
 gnomAD v4
1g.99910691T>ACA2646738682AGLc.3701-21T>A (n.3701-21T>A)
n.3912-21T>A
c.3653-21T>A (n.3653-21T>A)
c.3650-21T>A (n.3650-21T>A)
c.1961-21T>A (n.1961-21T>A)
 gnomAD v4
1g.99910691T>CCA741019011AGLc.3701-21T>C (n.3701-21T>C)
n.3912-21T>C
c.3653-21T>C (n.3653-21T>C)
c.3650-21T>C (n.3650-21T>C)
c.1961-21T>C (n.1961-21T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.99910691T=CA1183941609AGLc.3701-21T= (n.3701-21T=)
n.3912-21T=
c.3653-21T= (n.3653-21T=)
c.3650-21T= (n.3650-21T=)
c.1961-21T= (n.1961-21T=)
1g.99910692A>TCA2646738683AGLc.3701-20A>T (n.3701-20A>T)
n.3912-20A>T
c.3653-20A>T (n.3653-20A>T)
c.3650-20A>T (n.3650-20A>T)
c.1961-20A>T (n.1961-20A>T)
 gnomAD v4
1g.99910693T>CCA2646738684AGLc.3701-19T>C (n.3701-19T>C)
n.3912-19T>C
c.3653-19T>C (n.3653-19T>C)
c.3650-19T>C (n.3650-19T>C)
c.1961-19T>C (n.1961-19T>C)
 gnomAD v4
1g.99910693T>GCA2574444701AGLc.3701-19T>G (n.3701-19T>G)
n.3912-19T>G
c.3653-19T>G (n.3653-19T>G)
c.3650-19T>G (n.3650-19T>G)
c.1961-19T>G (n.1961-19T>G)
1g.99910694A>GCA2646738686AGLc.3701-18A>G (n.3701-18A>G)
n.3912-18A>G
c.3653-18A>G (n.3653-18A>G)
c.3650-18A>G (n.3650-18A>G)
c.1961-18A>G (n.1961-18A>G)
 gnomAD v4
1g.99910694A>TCA2646738687AGLc.3701-18A>T (n.3701-18A>T)
n.3912-18A>T
c.3653-18A>T (n.3653-18A>T)
c.3650-18A>T (n.3650-18A>T)
c.1961-18A>T (n.1961-18A>T)
 gnomAD v4
1g.99910697_99910698dupCA2646738685AGLc.3701-15_3701-14dup (n.3701-15_3701-14dup)
n.3912-15_3912-14dup
c.3653-15_3653-14dup (n.3653-15_3653-14dup)
c.3650-15_3650-14dup (n.3650-15_3650-14dup)
c.1961-15_1961-14dup (n.1961-15_1961-14dup)
 gnomAD v4
1g.99910695C>ACA2586967094AGLc.3701-17C>A (n.3701-17C>A)
n.3912-17C>A
c.3653-17C>A (n.3653-17C>A)
c.3650-17C>A (n.3650-17C>A)
c.1961-17C>A (n.1961-17C>A)
 gnomAD v4
1g.99910695C=CA1183941610AGLc.3701-17C= (n.3701-17C=)
n.3912-17C=
c.3653-17C= (n.3653-17C=)
c.3650-17C= (n.3650-17C=)
c.1961-17C= (n.1961-17C=)
1g.99910695C>TCA741019013AGLc.3701-17C>T (n.3701-17C>T)
n.3912-17C>T
c.3653-17C>T (n.3653-17C>T)
c.3650-17C>T (n.3650-17C>T)
c.1961-17C>T (n.1961-17C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.99910696A>GCA2646738689AGLc.3701-16A>G (n.3701-16A>G)
n.3912-16A>G
c.3653-16A>G (n.3653-16A>G)
c.3650-16A>G (n.3650-16A>G)
c.1961-16A>G (n.1961-16A>G)
 gnomAD v4
1g.99910696A>TCA2646738688AGLc.3701-16A>T (n.3701-16A>T)
n.3912-16A>T
c.3653-16A>T (n.3653-16A>T)
c.3650-16A>T (n.3650-16A>T)
c.1961-16A>T (n.1961-16A>T)
 gnomAD v4
1g.99910697C>ACA2646738690AGLc.3701-15C>A (n.3701-15C>A)
n.3912-15C>A
c.3653-15C>A (n.3653-15C>A)
c.3650-15C>A (n.3650-15C>A)
c.1961-15C>A (n.1961-15C>A)
 ClinVar gnomAD v4
1g.99910697_99910702delinsCATTTTCA1183941611AGLc.3701-15_3701-10delinsCATTTT (n.3701-15_3701-10delinsCATTTT)
n.3912-15_3912-10delinsCATTTT
c.3653-15_3653-10delinsCATTTT (n.3653-15_3653-10delinsCATTTT)
c.3650-15_3650-10delinsCATTTT (n.3650-15_3650-10delinsCATTTT)
c.1961-15_1961-10delinsCATTTT (n.1961-15_1961-10delinsCATTTT)
1g.99910698A>GCA2646738691AGLc.3701-14A>G (n.3701-14A>G)
n.3912-14A>G
c.3653-14A>G (n.3653-14A>G)
c.3650-14A>G (n.3650-14A>G)
c.1961-14A>G (n.1961-14A>G)
 gnomAD v4
1g.99910698_99910702delCA741019015AGLc.3701-14_3701-10del (n.3701-14_3701-10del)
n.3912-14_3912-10del
c.3653-14_3653-10del (n.3653-14_3653-10del)
c.3650-14_3650-10del (n.3650-14_3650-10del)
c.1961-14_1961-10del (n.1961-14_1961-10del)
 ClinVar dbSNP gnomAD v4
1g.99910699T>GCA2646738692AGLc.3701-13T>G (n.3701-13T>G)
n.3912-13T>G
c.3653-13T>G (n.3653-13T>G)
c.3650-13T>G (n.3650-13T>G)
c.1961-13T>G (n.1961-13T>G)
 gnomAD v4
1g.99910700T>CCA2646738693AGLc.3701-12T>C (n.3701-12T>C)
n.3912-12T>C
c.3653-12T>C (n.3653-12T>C)
c.3650-12T>C (n.3650-12T>C)
c.1961-12T>C (n.1961-12T>C)
 gnomAD v4
1g.99910700T>GCA967193AGLc.3701-12T>G (n.3701-12T>G)
n.3912-12T>G
c.3653-12T>G (n.3653-12T>G)
c.3650-12T>G (n.3650-12T>G)
c.1961-12T>G (n.1961-12T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910700T=CA1145910738AGLc.3701-12T= (n.3701-12T=)
n.3912-12T=
c.3653-12T= (n.3653-12T=)
c.3650-12T= (n.3650-12T=)
c.1961-12T= (n.1961-12T=)
1g.99910701T>CCA2646738694AGLc.3701-11T>C (n.3701-11T>C)
n.3912-11T>C
c.3653-11T>C (n.3653-11T>C)
c.3650-11T>C (n.3650-11T>C)
c.1961-11T>C (n.1961-11T>C)
 gnomAD v4
1g.99910702T>GCA967194AGLc.3701-10T>G (n.3701-10T>G)
n.3912-10T>G
c.3653-10T>G (n.3653-10T>G)
c.3650-10T>G (n.3650-10T>G)
c.1961-10T>G (n.1961-10T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910702T=CA1183941612AGLc.3701-10T= (n.3701-10T=)
n.3912-10T=
c.3653-10T= (n.3653-10T=)
c.3650-10T= (n.3650-10T=)
c.1961-10T= (n.1961-10T=)
1g.99910703G=CA1183941613AGLc.3701-9G= (n.3701-9G=)
n.3912-9G=
c.3653-9G= (n.3653-9G=)
c.3650-9G= (n.3650-9G=)
c.1961-9G= (n.1961-9G=)
1g.99910703G>TCA967195AGLc.3701-9G>T (n.3701-9G>T)
n.3912-9G>T
c.3653-9G>T (n.3653-9G>T)
c.3650-9G>T (n.3650-9G>T)
c.1961-9G>T (n.1961-9G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910704T>CCA2646738697AGLc.3701-8T>C (n.3701-8T>C)
n.3912-8T>C
c.3653-8T>C (n.3653-8T>C)
c.3650-8T>C (n.3650-8T>C)
c.1961-8T>C (n.1961-8T>C)
 gnomAD v4
1g.99910704T>GCA1004957098AGLc.3701-8T>G (n.3701-8T>G)
n.3912-8T>G
c.3653-8T>G (n.3653-8T>G)
c.3650-8T>G (n.3650-8T>G)
c.1961-8T>G (n.1961-8T>G)
 dbSNP gnomAD v3 gnomAD v4
1g.99910704T=CA1183941614AGLc.3701-8T= (n.3701-8T=)
n.3912-8T=
c.3653-8T= (n.3653-8T=)
c.3650-8T= (n.3650-8T=)
c.1961-8T= (n.1961-8T=)
1g.99910709dupCA2646738695AGLc.3701-3dup (n.3701-3dup)
n.3912-3dup
c.3653-3dup (n.3653-3dup)
c.3650-3dup (n.3650-3dup)
c.1961-3dup (n.1961-3dup)
 gnomAD v4
1g.99910709delCA2646738696AGLc.3701-3del (n.3701-3del)
n.3912-3del
c.3653-3del (n.3653-3del)
c.3650-3del (n.3650-3del)
c.1961-3del (n.1961-3del)
 gnomAD v4
1g.99910706T>CCA1004957099AGLc.3701-6T>C (n.3701-6T>C)
n.3912-6T>C
c.3653-6T>C (n.3653-6T>C)
c.3650-6T>C (n.3650-6T>C)
c.1961-6T>C (n.1961-6T>C)
 gnomAD v3 gnomAD v4
1g.99910706T>GCA2744753410AGLc.3701-6T>G (n.3701-6T>G)
n.3912-6T>G
c.3653-6T>G (n.3653-6T>G)
c.3650-6T>G (n.3650-6T>G)
c.1961-6T>G (n.1961-6T>G)
1g.99910707T>CCA2646738698AGLc.3701-5T>C (n.3701-5T>C)
n.3912-5T>C
c.3653-5T>C (n.3653-5T>C)
c.3650-5T>C (n.3650-5T>C)
c.1961-5T>C (n.1961-5T>C)
 ClinVar gnomAD v4
1g.99910707T>GCA16603722AGLc.3701-5T>G (n.3701-5T>G)
n.3912-5T>G
c.3653-5T>G (n.3653-5T>G)
c.3650-5T>G (n.3650-5T>G)
c.1961-5T>G (n.1961-5T>G)
 ClinVar dbSNP gnomAD v4
1g.99910707T=CA1183941615AGLc.3701-5T= (n.3701-5T=)
n.3912-5T=
c.3653-5T= (n.3653-5T=)
c.3650-5T= (n.3650-5T=)
c.1961-5T= (n.1961-5T=)
1g.99910708T>CCA2646738699AGLc.3701-4T>C (n.3701-4T>C)
n.3912-4T>C
c.3653-4T>C (n.3653-4T>C)
c.3650-4T>C (n.3650-4T>C)
c.1961-4T>C (n.1961-4T>C)
 gnomAD v4
1g.99910710A=CA1183941616AGLc.3701-2A= (n.3701-2A=)
n.3912-2A=
c.3653-2A= (n.3653-2A=)
c.3650-2A= (n.3650-2A=)
c.1961-2A= (n.1961-2A=)
1g.99910710A>CCA27553373AGLc.3701-2A>C (n.3701-2A>C)
n.3912-2A>C
c.3653-2A>C (n.3653-2A>C)
c.3650-2A>C (n.3650-2A>C)
c.1961-2A>C (n.1961-2A>C)
 dbSNP
1g.99910710A>GCA341337114AGLc.3701-2A>G (n.3701-2A>G)
n.3912-2A>G
c.3653-2A>G (n.3653-2A>G)
c.3650-2A>G (n.3650-2A>G)
c.1961-2A>G (n.1961-2A>G)
 ClinVar
1g.99910710A>TCA967196AGLc.3701-2A>T (n.3701-2A>T)
n.3912-2A>T
c.3653-2A>T (n.3653-2A>T)
c.3650-2A>T (n.3650-2A>T)
c.1961-2A>T (n.1961-2A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910711G>ACA341337126AGLc.3701-1G>A (n.3701-1G>A)
n.3912-1G>A
c.3653-1G>A (n.3653-1G>A)
c.3650-1G>A (n.3650-1G>A)
c.1961-1G>A (n.1961-1G>A)
 gnomAD v4
1g.99910711G>CCA341337128AGLc.3701-1G>C (n.3701-1G>C)
n.3912-1G>C
c.3653-1G>C (n.3653-1G>C)
c.3650-1G>C (n.3650-1G>C)
c.1961-1G>C (n.1961-1G>C)
 dbSNP gnomAD v4
1g.99910711G=CA1183941618AGLc.3701-1G= (n.3701-1G=)
n.3912-1G=
c.3653-1G= (n.3653-1G=)
c.3650-1G= (n.3650-1G=)
c.1961-1G= (n.1961-1G=)
1g.99910711G>TCA341337130AGLc.3701-1G>T (n.3701-1G>T)
n.3912-1G>T
c.3653-1G>T (n.3653-1G>T)
c.3650-1G>T (n.3650-1G>T)
c.1961-1G>T (n.1961-1G>T)
 gnomAD v4
1g.99910712G>ACA341337135AGLc.3701G>A (p.Gly1234Asp)
n.3912G>A
c.3653G>A (p.Gly1218Asp)
c.3650G>A (p.Gly1217Asp)
c.1961G>A (p.Gly654Asp)
 gnomAD v4
1g.99910712G>CCA341337153AGLc.3701G>C (p.Gly1234Ala)
n.3912G>C
c.3653G>C (p.Gly1218Ala)
c.3650G>C (p.Gly1217Ala)
c.1961G>C (p.Gly654Ala)
1g.99910712G>TCA341337160AGLc.3701G>T (p.Gly1234Val)
n.3912G>T
c.3653G>T (p.Gly1218Val)
c.3650G>T (p.Gly1217Val)
c.1961G>T (p.Gly654Val)
1g.99910713T>ACA419090950AGLc.3702T>A (p.Gly1234=)
n.3913T>A
c.3654T>A (p.Gly1218=)
c.3651T>A (p.Gly1217=)
c.1962T>A (p.Gly654=)
1g.99910713T>CCA419090949AGLc.3702T>C (p.Gly1234=)
n.3913T>C
c.3654T>C (p.Gly1218=)
c.3651T>C (p.Gly1217=)
c.1962T>C (p.Gly654=)
1g.99910713T>GCA419090947AGLc.3702T>G (p.Gly1234=)
n.3913T>G
c.3654T>G (p.Gly1218=)
c.3651T>G (p.Gly1217=)
c.1962T>G (p.Gly654=)
1g.99910716delCA2646738700AGLc.3705del (p.Phe1235LeufsTer3)
n.3916del
c.3657del (p.Phe1219LeufsTer3)
c.3654del (p.Phe1218LeufsTer3)
c.1965del (p.Phe655LeufsTer3)
 gnomAD v4
1g.99910714T>ACA341337166AGLc.3703T>A (p.Phe1235Ile)
n.3914T>A
c.3655T>A (p.Phe1219Ile)
c.3652T>A (p.Phe1218Ile)
c.1963T>A (p.Phe655Ile)
1g.99910714T>CCA341337168AGLc.3703T>C (p.Phe1235Leu)
n.3914T>C
c.3655T>C (p.Phe1219Leu)
c.3652T>C (p.Phe1218Leu)
c.1963T>C (p.Phe655Leu)
1g.99910714T>GCA341337164AGLc.3703T>G (p.Phe1235Val)
n.3914T>G
c.3655T>G (p.Phe1219Val)
c.3652T>G (p.Phe1218Val)
c.1963T>G (p.Phe655Val)
1g.99910715T>ACA341337172AGLc.3704T>A (p.Phe1235Tyr)
n.3915T>A
c.3656T>A (p.Phe1219Tyr)
c.3653T>A (p.Phe1218Tyr)
c.1964T>A (p.Phe655Tyr)
1g.99910715T>CCA341337178AGLc.3704T>C (p.Phe1235Ser)
n.3915T>C
c.3656T>C (p.Phe1219Ser)
c.3653T>C (p.Phe1218Ser)
c.1964T>C (p.Phe655Ser)
1g.99910715T>GCA341337182AGLc.3704T>G (p.Phe1235Cys)
n.3915T>G
c.3656T>G (p.Phe1219Cys)
c.3653T>G (p.Phe1218Cys)
c.1964T>G (p.Phe655Cys)
1g.99910715T=CA1183941619AGLc.3704T= (p.Phe1235=)
n.3915T=
c.3656T= (p.Phe1219=)
c.3653T= (p.Phe1218=)
c.1964T= (p.Phe655=)
1g.99910715_99910716insGCA1183941622AGLc.3704_3705insG (p.Phe1235LeufsTer2)
n.3915_3916insG
c.3656_3657insG (p.Phe1219LeufsTer2)
c.3653_3654insG (p.Phe1218LeufsTer2)
c.1964_1965insG (p.Phe655LeufsTer2)
 dbSNP
1g.99910716T>ACA341337199AGLc.3705T>A (p.Phe1235Leu)
n.3916T>A
c.3657T>A (p.Phe1219Leu)
c.3654T>A (p.Phe1218Leu)
c.1965T>A (p.Phe655Leu)
1g.99910716T>CCA967197AGLc.3705T>C (p.Phe1235=)
n.3916T>C
c.3657T>C (p.Phe1219=)
c.3654T>C (p.Phe1218=)
c.1965T>C (p.Phe655=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910716T>GCA341337203AGLc.3705T>G (p.Phe1235Leu)
n.3916T>G
c.3657T>G (p.Phe1219Leu)
c.3654T>G (p.Phe1218Leu)
c.1965T>G (p.Phe655Leu)
1g.99910716T=CA1183941620AGLc.3705T= (p.Phe1235=)
n.3916T=
c.3657T= (p.Phe1219=)
c.3654T= (p.Phe1218=)
c.1965T= (p.Phe655=)
1g.99910717A=CA1183941623AGLc.3706A= (p.Asn1236=)
n.3917A=
c.3658A= (p.Asn1220=)
c.3655A= (p.Asn1219=)
c.1966A= (p.Asn656=)
1g.99910717A>CCA341337207AGLc.3706A>C (p.Asn1236His)
n.3917A>C
c.3658A>C (p.Asn1220His)
c.3655A>C (p.Asn1219His)
c.1966A>C (p.Asn656His)
 ClinVar dbSNP
1g.99910717A>GCA341337211AGLc.3706A>G (p.Asn1236Asp)
n.3917A>G
c.3658A>G (p.Asn1220Asp)
c.3655A>G (p.Asn1219Asp)
c.1966A>G (p.Asn656Asp)
 gnomAD v4
1g.99910717A>TCA341337214AGLc.3706A>T (p.Asn1236Tyr)
n.3917A>T
c.3658A>T (p.Asn1220Tyr)
c.3655A>T (p.Asn1219Tyr)
c.1966A>T (p.Asn656Tyr)
1g.99910718A>CCA341337220AGLc.3707A>C (p.Asn1236Thr)
n.3918A>C
c.3659A>C (p.Asn1220Thr)
c.3656A>C (p.Asn1219Thr)
c.1967A>C (p.Asn656Thr)
1g.99910718A>GCA341337224AGLc.3707A>G (p.Asn1236Ser)
n.3918A>G
c.3659A>G (p.Asn1220Ser)
c.3656A>G (p.Asn1219Ser)
c.1967A>G (p.Asn656Ser)
1g.99910718A>TCA341337232AGLc.3707A>T (p.Asn1236Ile)
n.3918A>T
c.3659A>T (p.Asn1220Ile)
c.3656A>T (p.Asn1219Ile)
c.1967A>T (p.Asn656Ile)
1g.99910721_99910722delCA2586967095AGLc.3710_3711del (p.Ile1237AsnfsTer5)
n.3921_3922del
c.3662_3663del (p.Ile1221AsnfsTer5)
c.3659_3660del (p.Ile1220AsnfsTer5)
c.1970_1971del (p.Ile657AsnfsTer5)
1g.99910718_99910725dupCA967198AGLc.3707_3714dup (p.Ala1239IlefsTer2)
n.3918_3925dup
c.3659_3666dup (p.Ala1223IlefsTer2)
c.3656_3663dup (p.Ala1222IlefsTer2)
c.1967_1974dup (p.Ala659IlefsTer2)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910719T>ACA341337241AGLc.3708T>A (p.Asn1236Lys)
n.3919T>A
c.3660T>A (p.Asn1220Lys)
c.3657T>A (p.Asn1219Lys)
c.1968T>A (p.Asn656Lys)
1g.99910719T>CCA419090977AGLc.3708T>C (p.Asn1236=)
n.3919T>C
c.3660T>C (p.Asn1220=)
c.3657T>C (p.Asn1219=)
c.1968T>C (p.Asn656=)
 gnomAD v4
1g.99910719T>GCA341337238AGLc.3708T>G (p.Asn1236Lys)
n.3919T>G
c.3660T>G (p.Asn1220Lys)
c.3657T>G (p.Asn1219Lys)
c.1968T>G (p.Asn656Lys)
1g.99910720A=CA1183941626AGLc.3709A= (p.Ile1237=)
n.3920A=
c.3661A= (p.Ile1221=)
c.3658A= (p.Ile1220=)
c.1969A= (p.Ile657=)
1g.99910720A>CCA341337245AGLc.3709A>C (p.Ile1237Leu)
n.3920A>C
c.3661A>C (p.Ile1221Leu)
c.3658A>C (p.Ile1220Leu)
c.1969A>C (p.Ile657Leu)
1g.99910720A>GCA341337253AGLc.3709A>G (p.Ile1237Val)
n.3920A>G
c.3661A>G (p.Ile1221Val)
c.3658A>G (p.Ile1220Val)
c.1969A>G (p.Ile657Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99910720A>TCA341337260AGLc.3709A>T (p.Ile1237Leu)
n.3920A>T
c.3661A>T (p.Ile1221Leu)
c.3658A>T (p.Ile1220Leu)
c.1969A>T (p.Ile657Leu)
1g.99910721T>ACA341337263AGLc.3710T>A (p.Ile1237Lys)
n.3921T>A
c.3662T>A (p.Ile1221Lys)
c.3659T>A (p.Ile1220Lys)
c.1970T>A (p.Ile657Lys)
1g.99910721T>CCA341337275AGLc.3710T>C (p.Ile1237Thr)
n.3921T>C
c.3662T>C (p.Ile1221Thr)
c.3659T>C (p.Ile1220Thr)
c.1970T>C (p.Ile657Thr)
1g.99910721T>GCA341337278AGLc.3710T>G (p.Ile1237Arg)
n.3921T>G
c.3662T>G (p.Ile1221Arg)
c.3659T>G (p.Ile1220Arg)
c.1970T>G (p.Ile657Arg)
1g.99910722A>CCA419090991AGLc.3711A>C (p.Ile1237=)
n.3922A>C
c.3663A>C (p.Ile1221=)
c.3660A>C (p.Ile1220=)
c.1971A>C (p.Ile657=)
1g.99910722A>GCA341337283AGLc.3711A>G (p.Ile1237Met)
n.3922A>G
c.3663A>G (p.Ile1221Met)
c.3660A>G (p.Ile1220Met)
c.1971A>G (p.Ile657Met)
1g.99910722A>TCA419090994AGLc.3711A>T (p.Ile1237=)
n.3922A>T
c.3663A>T (p.Ile1221=)
c.3660A>T (p.Ile1220=)
c.1971A>T (p.Ile657=)
1g.99910723A=CA1183941628AGLc.3712A= (p.Thr1238=)
n.3923A=
c.3664A= (p.Thr1222=)
c.3661A= (p.Thr1221=)
c.1972A= (p.Thr658=)
1g.99910723A>CCA341337289AGLc.3712A>C (p.Thr1238Pro)
n.3923A>C
c.3664A>C (p.Thr1222Pro)
c.3661A>C (p.Thr1221Pro)
c.1972A>C (p.Thr658Pro)
1g.99910723A>GCA341337292AGLc.3712A>G (p.Thr1238Ala)
n.3923A>G
c.3664A>G (p.Thr1222Ala)
c.3661A>G (p.Thr1221Ala)
c.1972A>G (p.Thr658Ala)
 dbSNP
1g.99910723A>TCA341337295AGLc.3712A>T (p.Thr1238Ser)
n.3923A>T
c.3664A>T (p.Thr1222Ser)
c.3661A>T (p.Thr1221Ser)
c.1972A>T (p.Thr658Ser)
1g.99910724C>ACA341337300AGLc.3713C>A (p.Thr1238Asn)
n.3924C>A
c.3665C>A (p.Thr1222Asn)
c.3662C>A (p.Thr1221Asn)
c.1973C>A (p.Thr658Asn)
 gnomAD v4
1g.99910724C>GCA341337303AGLc.3713C>G (p.Thr1238Ser)
n.3924C>G
c.3665C>G (p.Thr1222Ser)
c.3662C>G (p.Thr1221Ser)
c.1973C>G (p.Thr658Ser)
1g.99910724C>TCA341337305AGLc.3713C>T (p.Thr1238Ile)
n.3924C>T
c.3665C>T (p.Thr1222Ile)
c.3662C>T (p.Thr1221Ile)
c.1973C>T (p.Thr658Ile)
1g.99910725T>ACA419091005AGLc.3714T>A (p.Thr1238=)
n.3925T>A
c.3666T>A (p.Thr1222=)
c.3663T>A (p.Thr1221=)
c.1974T>A (p.Thr658=)
1g.99910725T>CCA419091007AGLc.3714T>C (p.Thr1238=)
n.3925T>C
c.3666T>C (p.Thr1222=)
c.3663T>C (p.Thr1221=)
c.1974T>C (p.Thr658=)
 dbSNP gnomAD v2 gnomAD v4
1g.99910725T>GCA419091008AGLc.3714T>G (p.Thr1238=)
n.3925T>G
c.3666T>G (p.Thr1222=)
c.3663T>G (p.Thr1221=)
c.1974T>G (p.Thr658=)
1g.99910725T=CA1183941629AGLc.3714T= (p.Thr1238=)
n.3925T=
c.3666T= (p.Thr1222=)
c.3663T= (p.Thr1221=)
c.1974T= (p.Thr658=)
1g.99910726G>ACA341337315AGLc.3715G>A (p.Ala1239Thr)
n.3926G>A
c.3667G>A (p.Ala1223Thr)
c.3664G>A (p.Ala1222Thr)
c.1975G>A (p.Ala659Thr)
 gnomAD v4
1g.99910726G>CCA341337312AGLc.3715G>C (p.Ala1239Pro)
n.3926G>C
c.3667G>C (p.Ala1223Pro)
c.3664G>C (p.Ala1222Pro)
c.1975G>C (p.Ala659Pro)
1g.99910726G>TCA341337310AGLc.3715G>T (p.Ala1239Ser)
n.3926G>T
c.3667G>T (p.Ala1223Ser)
c.3664G>T (p.Ala1222Ser)
c.1975G>T (p.Ala659Ser)
1g.99910727C>ACA341337318AGLc.3716C>A (p.Ala1239Glu)
n.3927C>A
c.3668C>A (p.Ala1223Glu)
c.3665C>A (p.Ala1222Glu)
c.1976C>A (p.Ala659Glu)
1g.99910727C=CA1183941631AGLc.3716C= (p.Ala1239=)
n.3927C=
c.3668C= (p.Ala1223=)
c.3665C= (p.Ala1222=)
c.1976C= (p.Ala659=)
1g.99910727C>GCA341337324AGLc.3716C>G (p.Ala1239Gly)
n.3927C>G
c.3668C>G (p.Ala1223Gly)
c.3665C>G (p.Ala1222Gly)
c.1976C>G (p.Ala659Gly)
1g.99910727C>TCA341337321AGLc.3716C>T (p.Ala1239Val)
n.3927C>T
c.3668C>T (p.Ala1223Val)
c.3665C>T (p.Ala1222Val)
c.1976C>T (p.Ala659Val)
 dbSNP gnomAD v3 gnomAD v4
1g.99910728A>CCA419091019AGLc.3717A>C (p.Ala1239=)
n.3928A>C
c.3669A>C (p.Ala1223=)
c.3666A>C (p.Ala1222=)
c.1977A>C (p.Ala659=)
1g.99910728A>GCA419091022AGLc.3717A>G (p.Ala1239=)
n.3928A>G
c.3669A>G (p.Ala1223=)
c.3666A>G (p.Ala1222=)
c.1977A>G (p.Ala659=)
 gnomAD v4
1g.99910728A>TCA419091024AGLc.3717A>T (p.Ala1239=)
n.3928A>T
c.3669A>T (p.Ala1223=)
c.3666A>T (p.Ala1222=)
c.1977A>T (p.Ala659=)
1g.99910729G>ACA341337325AGLc.3718G>A (p.Gly1240Arg)
n.3929G>A
c.3670G>A (p.Gly1224Arg)
c.3667G>A (p.Gly1223Arg)
c.1978G>A (p.Gly660Arg)
 gnomAD v4
1g.99910729G>CCA341337327AGLc.3718G>C (p.Gly1240Arg)
n.3929G>C
c.3670G>C (p.Gly1224Arg)
c.3667G>C (p.Gly1223Arg)
c.1978G>C (p.Gly660Arg)
1g.99910729G=CA1183941634AGLc.3718G= (p.Gly1240=)
n.3929G=
c.3670G= (p.Gly1224=)
c.3667G= (p.Gly1223=)
c.1978G= (p.Gly660=)
1g.99910729G>TCA341337326AGLc.3718G>T (p.Gly1240Ter)
n.3929G>T
c.3670G>T (p.Gly1224Ter)
c.3667G>T (p.Gly1223Ter)
c.1978G>T (p.Gly660Ter)
 ClinVar dbSNP
1g.99910730G>ACA341337328AGLc.3719G>A (p.Gly1240Glu)
n.3930G>A
c.3671G>A (p.Gly1224Glu)
c.3668G>A (p.Gly1223Glu)
c.1979G>A (p.Gly660Glu)
1g.99910730G>CCA341337332AGLc.3719G>C (p.Gly1240Ala)
n.3930G>C
c.3671G>C (p.Gly1224Ala)
c.3668G>C (p.Gly1223Ala)
c.1979G>C (p.Gly660Ala)
1g.99910730G=CA1183941636AGLc.3719G= (p.Gly1240=)
n.3930G=
c.3671G= (p.Gly1224=)
c.3668G= (p.Gly1223=)
c.1979G= (p.Gly660=)
1g.99910730G>TCA341337330AGLc.3719G>T (p.Gly1240Val)
n.3930G>T
c.3671G>T (p.Gly1224Val)
c.3668G>T (p.Gly1223Val)
c.1979G>T (p.Gly660Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99910731A>CCA419091036AGLc.3720A>C (p.Gly1240=)
n.3931A>C
c.3672A>C (p.Gly1224=)
c.3669A>C (p.Gly1223=)
c.1980A>C (p.Gly660=)
1g.99910731A>GCA419091040AGLc.3720A>G (p.Gly1240=)
n.3931A>G
c.3672A>G (p.Gly1224=)
c.3669A>G (p.Gly1223=)
c.1980A>G (p.Gly660=)
1g.99910731A>TCA419091038AGLc.3720A>T (p.Gly1240=)
n.3931A>T
c.3672A>T (p.Gly1224=)
c.3669A>T (p.Gly1223=)
c.1980A>T (p.Gly660=)
1g.99910732G>ACA341337335AGLc.3721G>A (p.Val1241Ile)
n.3932G>A
c.3673G>A (p.Val1225Ile)
c.3670G>A (p.Val1224Ile)
c.1981G>A (p.Val661Ile)
1g.99910732G>CCA341337337AGLc.3721G>C (p.Val1241Leu)
n.3932G>C
c.3673G>C (p.Val1225Leu)
c.3670G>C (p.Val1224Leu)
c.1981G>C (p.Val661Leu)
1g.99910732G>TCA341337340AGLc.3721G>T (p.Val1241Phe)
n.3932G>T
c.3673G>T (p.Val1225Phe)
c.3670G>T (p.Val1224Phe)
c.1981G>T (p.Val661Phe)
1g.99910733T>ACA341337343AGLc.3722T>A (p.Val1241Asp)
n.3933T>A
c.3674T>A (p.Val1225Asp)
c.3671T>A (p.Val1224Asp)
c.1982T>A (p.Val661Asp)
1g.99910733T>CCA341337345AGLc.3722T>C (p.Val1241Ala)
n.3933T>C
c.3674T>C (p.Val1225Ala)
c.3671T>C (p.Val1224Ala)
c.1982T>C (p.Val661Ala)
1g.99910733T>GCA341337347AGLc.3722T>G (p.Val1241Gly)
n.3933T>G
c.3674T>G (p.Val1225Gly)
c.3671T>G (p.Val1224Gly)
c.1982T>G (p.Val661Gly)
1g.99910733_99910736delinsTTGACA1183941638AGLc.3722_3725delinsTTGA (p.Val1241=)
n.3933_3936delinsTTGA
c.3674_3677delinsTTGA (p.Val1225=)
c.3671_3674delinsTTGA (p.Val1224=)
c.1982_1985delinsTTGA (p.Val661=)
1g.99910734T>ACA419091055AGLc.3723T>A (p.Val1241=)
n.3934T>A
c.3675T>A (p.Val1225=)
c.3672T>A (p.Val1224=)
c.1983T>A (p.Val661=)
1g.99910734T>CCA419091057AGLc.3723T>C (p.Val1241=)
n.3934T>C
c.3675T>C (p.Val1225=)
c.3672T>C (p.Val1224=)
c.1983T>C (p.Val661=)
1g.99910734T>GCA419091059AGLc.3723T>G (p.Val1241=)
n.3934T>G
c.3675T>G (p.Val1225=)
c.3672T>G (p.Val1224=)
c.1983T>G (p.Val661=)
1g.99910737_99910739delCA967199AGLc.3726_3728del (p.Asp1242del)
n.3937_3939del
c.3678_3680del (p.Asp1226del)
c.3675_3677del (p.Asp1225del)
c.1986_1988del (p.Asp662del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910735G>ACA967200AGLc.3724G>A (p.Asp1242Asn)
n.3935G>A
c.3676G>A (p.Asp1226Asn)
c.3673G>A (p.Asp1225Asn)
c.1984G>A (p.Asp662Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910735G>CCA341337360AGLc.3724G>C (p.Asp1242His)
n.3935G>C
c.3676G>C (p.Asp1226His)
c.3673G>C (p.Asp1225His)
c.1984G>C (p.Asp662His)
1g.99910735G=CA1183941641AGLc.3724G= (p.Asp1242=)
n.3935G=
c.3676G= (p.Asp1226=)
c.3673G= (p.Asp1225=)
c.1984G= (p.Asp662=)
1g.99910735G>TCA341337370AGLc.3724G>T (p.Asp1242Tyr)
n.3935G>T
c.3676G>T (p.Asp1226Tyr)
c.3673G>T (p.Asp1225Tyr)
c.1984G>T (p.Asp662Tyr)
1g.99910736A>CCA341337392AGLc.3725A>C (p.Asp1242Ala)
n.3936A>C
c.3677A>C (p.Asp1226Ala)
c.3674A>C (p.Asp1225Ala)
c.1985A>C (p.Asp662Ala)
1g.99910736A>GCA341337381AGLc.3725A>G (p.Asp1242Gly)
n.3936A>G
c.3677A>G (p.Asp1226Gly)
c.3674A>G (p.Asp1225Gly)
c.1985A>G (p.Asp662Gly)
1g.99910736A>TCA341337379AGLc.3725A>T (p.Asp1242Val)
n.3936A>T
c.3677A>T (p.Asp1226Val)
c.3674A>T (p.Asp1225Val)
c.1985A>T (p.Asp662Val)
 gnomAD v4
1g.99910737T>ACA341337397AGLc.3726T>A (p.Asp1242Glu)
n.3937T>A
c.3678T>A (p.Asp1226Glu)
c.3675T>A (p.Asp1225Glu)
c.1986T>A (p.Asp662Glu)
1g.99910737T>CCA967201AGLc.3726T>C (p.Asp1242=)
n.3937T>C
c.3678T>C (p.Asp1226=)
c.3675T>C (p.Asp1225=)
c.1986T>C (p.Asp662=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910737T>GCA341337404AGLc.3726T>G (p.Asp1242Glu)
n.3937T>G
c.3678T>G (p.Asp1226Glu)
c.3675T>G (p.Asp1225Glu)
c.1986T>G (p.Asp662Glu)
1g.99910737T=CA1183941642AGLc.3726T= (p.Asp1242=)
n.3937T=
c.3678T= (p.Asp1226=)
c.3675T= (p.Asp1225=)
c.1986T= (p.Asp662=)
1g.99910738G>ACA967202AGLc.3727G>A (p.Glu1243Lys)
n.3938G>A
c.3679G>A (p.Glu1227Lys)
c.3676G>A (p.Glu1226Lys)
c.1987G>A (p.Glu663Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910738G>CCA341337409AGLc.3727G>C (p.Glu1243Gln)
n.3938G>C
c.3679G>C (p.Glu1227Gln)
c.3676G>C (p.Glu1226Gln)
c.1987G>C (p.Glu663Gln)
1g.99910738G=CA1183941643AGLc.3727G= (p.Glu1243=)
n.3938G=
c.3679G= (p.Glu1227=)
c.3676G= (p.Glu1226=)
c.1987G= (p.Glu663=)
1g.99910738G>TCA341337411AGLc.3727G>T (p.Glu1243Ter)
n.3938G>T
c.3679G>T (p.Glu1227Ter)
c.3676G>T (p.Glu1226Ter)
c.1987G>T (p.Glu663Ter)
1g.99910739A>CCA341337414AGLc.3728A>C (p.Glu1243Ala)
n.3939A>C
c.3680A>C (p.Glu1227Ala)
c.3677A>C (p.Glu1226Ala)
c.1988A>C (p.Glu663Ala)
1g.99910739A>GCA341337416AGLc.3728A>G (p.Glu1243Gly)
n.3939A>G
c.3680A>G (p.Glu1227Gly)
c.3677A>G (p.Glu1226Gly)
c.1988A>G (p.Glu663Gly)
1g.99910739A>TCA341337420AGLc.3728A>T (p.Glu1243Val)
n.3939A>T
c.3680A>T (p.Glu1227Val)
c.3677A>T (p.Glu1226Val)
c.1988A>T (p.Glu663Val)
1g.99910740A>CCA341337423AGLc.3729A>C (p.Glu1243Asp)
n.3940A>C
c.3681A>C (p.Glu1227Asp)
c.3678A>C (p.Glu1226Asp)
c.1989A>C (p.Glu663Asp)
1g.99910740A>GCA419091089AGLc.3729A>G (p.Glu1243=)
n.3940A>G
c.3681A>G (p.Glu1227=)
c.3678A>G (p.Glu1226=)
c.1989A>G (p.Glu663=)
1g.99910740A>TCA341337426AGLc.3729A>T (p.Glu1243Asp)
n.3940A>T
c.3681A>T (p.Glu1227Asp)
c.3678A>T (p.Glu1226Asp)
c.1989A>T (p.Glu663Asp)
1g.99910741G>ACA967203AGLc.3730G>A (p.Glu1244Lys)
n.3941G>A
c.3682G>A (p.Glu1228Lys)
c.3679G>A (p.Glu1227Lys)
c.1990G>A (p.Glu664Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910741G>CCA341337432AGLc.3730G>C (p.Glu1244Gln)
n.3941G>C
c.3682G>C (p.Glu1228Gln)
c.3679G>C (p.Glu1227Gln)
c.1990G>C (p.Glu664Gln)
1g.99910741G=CA1183941644AGLc.3730G= (p.Glu1244=)
n.3941G=
c.3682G= (p.Glu1228=)
c.3679G= (p.Glu1227=)
c.1990G= (p.Glu664=)
1g.99910741G>TCA341337430AGLc.3730G>T (p.Glu1244Ter)
n.3941G>T
c.3682G>T (p.Glu1228Ter)
c.3679G>T (p.Glu1227Ter)
c.1990G>T (p.Glu664Ter)
1g.99910742A>CCA341337439AGLc.3731A>C (p.Glu1244Ala)
n.3942A>C
c.3683A>C (p.Glu1228Ala)
c.3680A>C (p.Glu1227Ala)
c.1991A>C (p.Glu664Ala)
1g.99910742A>GCA341337441AGLc.3731A>G (p.Glu1244Gly)
n.3942A>G
c.3683A>G (p.Glu1228Gly)
c.3680A>G (p.Glu1227Gly)
c.1991A>G (p.Glu664Gly)
1g.99910742A>TCA341337443AGLc.3731A>T (p.Glu1244Val)
n.3942A>T
c.3683A>T (p.Glu1228Val)
c.3680A>T (p.Glu1227Val)
c.1991A>T (p.Glu664Val)
1g.99910744delCA2695198082AGLc.3733del (p.Thr1245GlnfsTer?)
n.3944del
c.3685del (p.Thr1229GlnfsTer?)
c.3682del (p.Thr1228GlnfsTer?)
c.1993del (p.Thr665GlnfsTer?)
 ClinVar
1g.99910743A>CCA341337448AGLc.3732A>C (p.Glu1244Asp)
n.3943A>C
c.3684A>C (p.Glu1228Asp)
c.3681A>C (p.Glu1227Asp)
c.1992A>C (p.Glu664Asp)
1g.99910743A>GCA419091111AGLc.3732A>G (p.Glu1244=)
n.3943A>G
c.3684A>G (p.Glu1228=)
c.3681A>G (p.Glu1227=)
c.1992A>G (p.Glu664=)
 ClinVar
1g.99910743A>TCA341337451AGLc.3732A>T (p.Glu1244Asp)
n.3943A>T
c.3684A>T (p.Glu1228Asp)
c.3681A>T (p.Glu1227Asp)
c.1992A>T (p.Glu664Asp)
1g.99910744A=CA1183941645AGLc.3733A= (p.Thr1245=)
n.3944A=
c.3685A= (p.Thr1229=)
c.3682A= (p.Thr1228=)
c.1993A= (p.Thr665=)
1g.99910744A>CCA341337454AGLc.3733A>C (p.Thr1245Pro)
n.3944A>C
c.3685A>C (p.Thr1229Pro)
c.3682A>C (p.Thr1228Pro)
c.1993A>C (p.Thr665Pro)
1g.99910744A>GCA967204AGLc.3733A>G (p.Thr1245Ala)
n.3944A>G
c.3685A>G (p.Thr1229Ala)
c.3682A>G (p.Thr1228Ala)
c.1993A>G (p.Thr665Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910744A>TCA341337464AGLc.3733A>T (p.Thr1245Ser)
n.3944A>T
c.3685A>T (p.Thr1229Ser)
c.3682A>T (p.Thr1228Ser)
c.1993A>T (p.Thr665Ser)
1g.99910745C>ACA341337471AGLc.3734C>A (p.Thr1245Lys)
n.3945C>A
c.3686C>A (p.Thr1229Lys)
c.3683C>A (p.Thr1228Lys)
c.1994C>A (p.Thr665Lys)
1g.99910745C=CA1183941647AGLc.3734C= (p.Thr1245=)
n.3945C=
c.3686C= (p.Thr1229=)
c.3683C= (p.Thr1228=)
c.1994C= (p.Thr665=)
1g.99910745C>GCA341337474AGLc.3734C>G (p.Thr1245Arg)
n.3945C>G
c.3686C>G (p.Thr1229Arg)
c.3683C>G (p.Thr1228Arg)
c.1994C>G (p.Thr665Arg)
 dbSNP
1g.99910745C>TCA341337476AGLc.3734C>T (p.Thr1245Ile)
n.3945C>T
c.3686C>T (p.Thr1229Ile)
c.3683C>T (p.Thr1228Ile)
c.1994C>T (p.Thr665Ile)
 dbSNP gnomAD v4
1g.99910746A>CCA419091128AGLc.3735A>C (p.Thr1245=)
n.3946A>C
c.3687A>C (p.Thr1229=)
c.3684A>C (p.Thr1228=)
c.1995A>C (p.Thr665=)
1g.99910746A>GCA419091125AGLc.3735A>G (p.Thr1245=)
n.3946A>G
c.3687A>G (p.Thr1229=)
c.3684A>G (p.Thr1228=)
c.1995A>G (p.Thr665=)
1g.99910746A>TCA419091126AGLc.3735A>T (p.Thr1245=)
n.3946A>T
c.3687A>T (p.Thr1229=)
c.3684A>T (p.Thr1228=)
c.1995A>T (p.Thr665=)
 gnomAD v4
1g.99910747G>ACA341337489AGLc.3736G>A (p.Gly1246Arg)
n.3947G>A
c.3688G>A (p.Gly1230Arg)
c.3685G>A (p.Gly1229Arg)
c.1996G>A (p.Gly666Arg)
1g.99910747G>CCA341337482AGLc.3736G>C (p.Gly1246Arg)
n.3947G>C
c.3688G>C (p.Gly1230Arg)
c.3685G>C (p.Gly1229Arg)
c.1996G>C (p.Gly666Arg)
1g.99910747G>TCA341337479AGLc.3736G>T (p.Gly1246Ter)
n.3947G>T
c.3688G>T (p.Gly1230Ter)
c.3685G>T (p.Gly1229Ter)
c.1996G>T (p.Gly666Ter)
1g.99910748delCA2646738701AGLc.3737del (p.Gly1246AspfsTer?)
n.3948del
c.3689del (p.Gly1230AspfsTer?)
c.3686del (p.Gly1229AspfsTer?)
c.1997del (p.Gly666AspfsTer?)
 gnomAD v4
1g.99910748G>ACA341337492AGLc.3737G>A (p.Gly1246Glu)
n.3948G>A
c.3689G>A (p.Gly1230Glu)
c.3686G>A (p.Gly1229Glu)
c.1997G>A (p.Gly666Glu)
1g.99910748G>CCA341337494AGLc.3737G>C (p.Gly1246Ala)
n.3948G>C
c.3689G>C (p.Gly1230Ala)
c.3686G>C (p.Gly1229Ala)
c.1997G>C (p.Gly666Ala)
1g.99910748G>TCA341337501AGLc.3737G>T (p.Gly1246Val)
n.3948G>T
c.3689G>T (p.Gly1230Val)
c.3686G>T (p.Gly1229Val)
c.1997G>T (p.Gly666Val)
1g.99910749A=CA1183941648AGLc.3738A= (p.Gly1246=)
n.3949A=
c.3690A= (p.Gly1230=)
c.3687A= (p.Gly1229=)
c.1998A= (p.Gly666=)
1g.99910749A>CCA419091143AGLc.3738A>C (p.Gly1246=)
n.3949A>C
c.3690A>C (p.Gly1230=)
c.3687A>C (p.Gly1229=)
c.1998A>C (p.Gly666=)
 ClinVar dbSNP
1g.99910749A>GCA27553424AGLc.3738A>G (p.Gly1246=)
n.3949A>G
c.3690A>G (p.Gly1230=)
c.3687A>G (p.Gly1229=)
c.1998A>G (p.Gly666=)
 dbSNP gnomAD v2 gnomAD v4
1g.99910749A>TCA967205AGLc.3738A>T (p.Gly1246=)
n.3949A>T
c.3690A>T (p.Gly1230=)
c.3687A>T (p.Gly1229=)
c.1998A>T (p.Gly666=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910750T>ACA341337506AGLc.3739T>A (p.Phe1247Ile)
n.3950T>A
c.3691T>A (p.Phe1231Ile)
c.3688T>A (p.Phe1230Ile)
c.1999T>A (p.Phe667Ile)
1g.99910750T>CCA341337510AGLc.3739T>C (p.Phe1247Leu)
n.3950T>C
c.3691T>C (p.Phe1231Leu)
c.3688T>C (p.Phe1230Leu)
c.1999T>C (p.Phe667Leu)
1g.99910750T>GCA341337512AGLc.3739T>G (p.Phe1247Val)
n.3950T>G
c.3691T>G (p.Phe1231Val)
c.3688T>G (p.Phe1230Val)
c.1999T>G (p.Phe667Val)
1g.99910751T>ACA341337514AGLc.3740T>A (p.Phe1247Tyr)
n.3951T>A
c.3692T>A (p.Phe1231Tyr)
c.3689T>A (p.Phe1230Tyr)
c.2000T>A (p.Phe667Tyr)
1g.99910751T>CCA341337515AGLc.3740T>C (p.Phe1247Ser)
n.3951T>C
c.3692T>C (p.Phe1231Ser)
c.3689T>C (p.Phe1230Ser)
c.2000T>C (p.Phe667Ser)
1g.99910751T>GCA341337516AGLc.3740T>G (p.Phe1247Cys)
n.3951T>G
c.3692T>G (p.Phe1231Cys)
c.3689T>G (p.Phe1230Cys)
c.2000T>G (p.Phe667Cys)
1g.99910752T>ACA341337518AGLc.3741T>A (p.Phe1247Leu)
n.3952T>A
c.3693T>A (p.Phe1231Leu)
c.3690T>A (p.Phe1230Leu)
c.2001T>A (p.Phe667Leu)
1g.99910752T>CCA419091156AGLc.3741T>C (p.Phe1247=)
n.3952T>C
c.3693T>C (p.Phe1231=)
c.3690T>C (p.Phe1230=)
c.2001T>C (p.Phe667=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99910752T>GCA341337533AGLc.3741T>G (p.Phe1247Leu)
n.3952T>G
c.3693T>G (p.Phe1231Leu)
c.3690T>G (p.Phe1230Leu)
c.2001T>G (p.Phe667Leu)
1g.99910752T=CA1183941650AGLc.3741T= (p.Phe1247=)
n.3952T=
c.3693T= (p.Phe1231=)
c.3690T= (p.Phe1230=)
c.2001T= (p.Phe667=)
1g.99910753G>ACA341337540AGLc.3742G>A (p.Val1248Ile)
n.3953G>A
c.3694G>A (p.Val1232Ile)
c.3691G>A (p.Val1231Ile)
c.2002G>A (p.Val668Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99910753G>CCA341337538AGLc.3742G>C (p.Val1248Leu)
n.3953G>C
c.3694G>C (p.Val1232Leu)
c.3691G>C (p.Val1231Leu)
c.2002G>C (p.Val668Leu)
1g.99910753G=CA1183941651AGLc.3742G= (p.Val1248=)
n.3953G=
c.3694G= (p.Val1232=)
c.3691G= (p.Val1231=)
c.2002G= (p.Val668=)
1g.99910753G>TCA341337536AGLc.3742G>T (p.Val1248Phe)
n.3953G>T
c.3694G>T (p.Val1232Phe)
c.3691G>T (p.Val1231Phe)
c.2002G>T (p.Val668Phe)
1g.99910754T>ACA341337546AGLc.3743T>A (p.Val1248Asp)
n.3954T>A
c.3695T>A (p.Val1232Asp)
c.3692T>A (p.Val1231Asp)
c.2003T>A (p.Val668Asp)
1g.99910754T>CCA341337552AGLc.3743T>C (p.Val1248Ala)
n.3954T>C
c.3695T>C (p.Val1232Ala)
c.3692T>C (p.Val1231Ala)
c.2003T>C (p.Val668Ala)
1g.99910754T>GCA341337548AGLc.3743T>G (p.Val1248Gly)
n.3954T>G
c.3695T>G (p.Val1232Gly)
c.3692T>G (p.Val1231Gly)
c.2003T>G (p.Val668Gly)
1g.99910756dupCA2646738702AGLc.3745dup (p.Tyr1249LeufsTer14)
n.3956dup
c.3697dup (p.Tyr1233LeufsTer14)
c.3694dup (p.Tyr1232LeufsTer14)
c.2005dup (p.Tyr669LeufsTer14)
 gnomAD v4
1g.99910756delCA2695198083AGLc.3745del (p.Tyr1249MetfsTer?)
n.3956del
c.3697del (p.Tyr1233MetfsTer?)
c.3694del (p.Tyr1232MetfsTer?)
c.2005del (p.Tyr669MetfsTer?)
 ClinVar
1g.99910755T>ACA419091163AGLc.3744T>A (p.Val1248=)
n.3955T>A
c.3696T>A (p.Val1232=)
c.3693T>A (p.Val1231=)
c.2004T>A (p.Val668=)
1g.99910755T>CCA419091165AGLc.3744T>C (p.Val1248=)
n.3955T>C
c.3696T>C (p.Val1232=)
c.3693T>C (p.Val1231=)
c.2004T>C (p.Val668=)
1g.99910755T>GCA419091166AGLc.3744T>G (p.Val1248=)
n.3955T>G
c.3696T>G (p.Val1232=)
c.3693T>G (p.Val1231=)
c.2004T>G (p.Val668=)
1g.99910756T>ACA341337557AGLc.3745T>A (p.Tyr1249Asn)
n.3956T>A
c.3697T>A (p.Tyr1233Asn)
c.3694T>A (p.Tyr1232Asn)
c.2005T>A (p.Tyr669Asn)
1g.99910756T>CCA341337560AGLc.3745T>C (p.Tyr1249His)
n.3956T>C
c.3697T>C (p.Tyr1233His)
c.3694T>C (p.Tyr1232His)
c.2005T>C (p.Tyr669His)
1g.99910756T>GCA341337563AGLc.3745T>G (p.Tyr1249Asp)
n.3956T>G
c.3697T>G (p.Tyr1233Asp)
c.3694T>G (p.Tyr1232Asp)
c.2005T>G (p.Tyr669Asp)
1g.99910757A=CA1183941652AGLc.3746A= (p.Tyr1249=)
n.3957A=
c.3698A= (p.Tyr1233=)
c.3695A= (p.Tyr1232=)
c.2006A= (p.Tyr669=)
1g.99910757A>CCA341337565AGLc.3746A>C (p.Tyr1249Ser)
n.3957A>C
c.3698A>C (p.Tyr1233Ser)
c.3695A>C (p.Tyr1232Ser)
c.2006A>C (p.Tyr669Ser)
1g.99910757A>GCA341337568AGLc.3746A>G (p.Tyr1249Cys)
n.3957A>G
c.3698A>G (p.Tyr1233Cys)
c.3695A>G (p.Tyr1232Cys)
c.2006A>G (p.Tyr669Cys)
1g.99910757A>TCA341337572AGLc.3746A>T (p.Tyr1249Phe)
n.3957A>T
c.3698A>T (p.Tyr1233Phe)
c.3695A>T (p.Tyr1232Phe)
c.2006A>T (p.Tyr669Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99910758T>ACA341337575AGLc.3747T>A (p.Tyr1249Ter)
n.3958T>A
c.3699T>A (p.Tyr1233Ter)
c.3696T>A (p.Tyr1232Ter)
c.2007T>A (p.Tyr669Ter)
1g.99910758T>CCA419091174AGLc.3747T>C (p.Tyr1249=)
n.3958T>C
c.3699T>C (p.Tyr1233=)
c.3696T>C (p.Tyr1232=)
c.2007T>C (p.Tyr669=)
 dbSNP gnomAD v2 gnomAD v4
1g.99910758T>GCA341337578AGLc.3747T>G (p.Tyr1249Ter)
n.3958T>G
c.3699T>G (p.Tyr1233Ter)
c.3696T>G (p.Tyr1232Ter)
c.2007T>G (p.Tyr669Ter)
1g.99910758T=CA1183941656AGLc.3747T= (p.Tyr1249=)
n.3958T=
c.3699T= (p.Tyr1233=)
c.3696T= (p.Tyr1232=)
c.2007T= (p.Tyr669=)
1g.99910758dupCA1139656258AGLc.3747dup (p.Gly1250TrpfsTer13)
n.3958dup
c.3699dup (p.Gly1234TrpfsTer13)
c.3696dup (p.Gly1233TrpfsTer13)
c.2007dup (p.Gly670TrpfsTer13)
 ClinVar dbSNP
1g.99910759G>ACA341337581AGLc.3748G>A (p.Gly1250Arg)
n.3959G>A
c.3700G>A (p.Gly1234Arg)
c.3697G>A (p.Gly1233Arg)
c.2008G>A (p.Gly670Arg)
1g.99910759G>CCA341337584AGLc.3748G>C (p.Gly1250Arg)
n.3959G>C
c.3700G>C (p.Gly1234Arg)
c.3697G>C (p.Gly1233Arg)
c.2008G>C (p.Gly670Arg)
1g.99910759G>TCA341337586AGLc.3748G>T (p.Gly1250Ter)
n.3959G>T
c.3700G>T (p.Gly1234Ter)
c.3697G>T (p.Gly1233Ter)
c.2008G>T (p.Gly670Ter)
1g.99910760G>ACA341337596AGLc.3749G>A (p.Gly1250Glu)
n.3960G>A
c.3701G>A (p.Gly1234Glu)
c.3698G>A (p.Gly1233Glu)
c.2009G>A (p.Gly670Glu)
1g.99910760G>CCA341337593AGLc.3749G>C (p.Gly1250Ala)
n.3960G>C
c.3701G>C (p.Gly1234Ala)
c.3698G>C (p.Gly1233Ala)
c.2009G>C (p.Gly670Ala)
1g.99910760G>TCA341337588AGLc.3749G>T (p.Gly1250Val)
n.3960G>T
c.3701G>T (p.Gly1234Val)
c.3698G>T (p.Gly1233Val)
c.2009G>T (p.Gly670Val)
1g.99910761A>CCA419091180AGLc.3750A>C (p.Gly1250=)
n.3961A>C
c.3702A>C (p.Gly1234=)
c.3699A>C (p.Gly1233=)
c.2010A>C (p.Gly670=)
1g.99910761A>GCA419091181AGLc.3750A>G (p.Gly1250=)
n.3961A>G
c.3702A>G (p.Gly1234=)
c.3699A>G (p.Gly1233=)
c.2010A>G (p.Gly670=)
1g.99910761A>TCA419091182AGLc.3750A>T (p.Gly1250=)
n.3961A>T
c.3702A>T (p.Gly1234=)
c.3699A>T (p.Gly1233=)
c.2010A>T (p.Gly670=)
1g.99910762G>ACA967206AGLc.3751G>A (p.Gly1251Arg)
n.3962G>A
c.3703G>A (p.Gly1235Arg)
c.3700G>A (p.Gly1234Arg)
c.2011G>A (p.Gly671Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910762G>CCA341337601AGLc.3751G>C (p.Gly1251Arg)
n.3962G>C
c.3703G>C (p.Gly1235Arg)
c.3700G>C (p.Gly1234Arg)
c.2011G>C (p.Gly671Arg)
1g.99910762G=CA1148236499AGLc.3751G= (p.Gly1251=)
n.3962G=
c.3703G= (p.Gly1235=)
c.3700G= (p.Gly1234=)
c.2011G= (p.Gly671=)
1g.99910762G>TCA341337605AGLc.3751G>T (p.Gly1251Ter)
n.3962G>T
c.3703G>T (p.Gly1235Ter)
c.3700G>T (p.Gly1234Ter)
c.2011G>T (p.Gly671Ter)
1g.99910763G>ACA341337608AGLc.3752G>A (p.Gly1251Glu)
n.3963G>A
c.3704G>A (p.Gly1235Glu)
c.3701G>A (p.Gly1234Glu)
c.2012G>A (p.Gly671Glu)
 gnomAD v4
1g.99910763G>CCA341337611AGLc.3752G>C (p.Gly1251Ala)
n.3963G>C
c.3704G>C (p.Gly1235Ala)
c.3701G>C (p.Gly1234Ala)
c.2012G>C (p.Gly671Ala)
1g.99910763G>TCA341337616AGLc.3752G>T (p.Gly1251Val)
n.3963G>T
c.3704G>T (p.Gly1235Val)
c.3701G>T (p.Gly1234Val)
c.2012G>T (p.Gly671Val)
1g.99910764A>CCA419091187AGLc.3753A>C (p.Gly1251=)
n.3964A>C
c.3705A>C (p.Gly1235=)
c.3702A>C (p.Gly1234=)
c.2013A>C (p.Gly671=)
1g.99910764A>GCA419091188AGLc.3753A>G (p.Gly1251=)
n.3964A>G
c.3705A>G (p.Gly1235=)
c.3702A>G (p.Gly1234=)
c.2013A>G (p.Gly671=)
1g.99910764A>TCA419091190AGLc.3753A>T (p.Gly1251=)
n.3964A>T
c.3705A>T (p.Gly1235=)
c.3702A>T (p.Gly1234=)
c.2013A>T (p.Gly671=)
1g.99910766delCA2586967096AGLc.3755del (p.Asn1252IlefsTer?)
n.3966del
c.3707del (p.Asn1236IlefsTer?)
c.3704del (p.Asn1235IlefsTer?)
c.2015del (p.Asn672IlefsTer?)
1g.99910765A>CCA341337621AGLc.3754A>C (p.Asn1252His)
n.3965A>C
c.3706A>C (p.Asn1236His)
c.3703A>C (p.Asn1235His)
c.2014A>C (p.Asn672His)
1g.99910765A>GCA341337625AGLc.3754A>G (p.Asn1252Asp)
n.3965A>G
c.3706A>G (p.Asn1236Asp)
c.3703A>G (p.Asn1235Asp)
c.2014A>G (p.Asn672Asp)
 ClinVar
1g.99910765A>TCA341337627AGLc.3754A>T (p.Asn1252Tyr)
n.3965A>T
c.3706A>T (p.Asn1236Tyr)
c.3703A>T (p.Asn1235Tyr)
c.2014A>T (p.Asn672Tyr)
1g.99910766A=CA1183941658AGLc.3755A= (p.Asn1252=)
n.3966A=
c.3707A= (p.Asn1236=)
c.3704A= (p.Asn1235=)
c.2015A= (p.Asn672=)
1g.99910766A>CCA341337635AGLc.3755A>C (p.Asn1252Thr)
n.3966A>C
c.3707A>C (p.Asn1236Thr)
c.3704A>C (p.Asn1235Thr)
c.2015A>C (p.Asn672Thr)
1g.99910766A>GCA341337637AGLc.3755A>G (p.Asn1252Ser)
n.3966A>G
c.3707A>G (p.Asn1236Ser)
c.3704A>G (p.Asn1235Ser)
c.2015A>G (p.Asn672Ser)
 ClinVar dbSNP
1g.99910766A>TCA341337639AGLc.3755A>T (p.Asn1252Ile)
n.3966A>T
c.3707A>T (p.Asn1236Ile)
c.3704A>T (p.Asn1235Ile)
c.2015A>T (p.Asn672Ile)
1g.99910767T>ACA341337643AGLc.3756T>A (p.Asn1252Lys)
n.3967T>A
c.3708T>A (p.Asn1236Lys)
c.3705T>A (p.Asn1235Lys)
c.2016T>A (p.Asn672Lys)
1g.99910767T>CCA419091197AGLc.3756T>C (p.Asn1252=)
n.3967T>C
c.3708T>C (p.Asn1236=)
c.3705T>C (p.Asn1235=)
c.2016T>C (p.Asn672=)
1g.99910767T>GCA341337642AGLc.3756T>G (p.Asn1252Lys)
n.3967T>G
c.3708T>G (p.Asn1236Lys)
c.3705T>G (p.Asn1235Lys)
c.2016T>G (p.Asn672Lys)
1g.99910767dupCA2499214926AGLc.3756dup (p.Arg1253SerfsTer10)
n.3967dup
c.3708dup (p.Arg1237SerfsTer10)
c.3705dup (p.Arg1236SerfsTer10)
c.2016dup (p.Arg673SerfsTer10)
 ClinVar dbSNP
1g.99910768C>ACA27553453AGLc.3757C>A (p.Arg1253Ser)
n.3968C>A
c.3709C>A (p.Arg1237Ser)
c.3706C>A (p.Arg1236Ser)
c.2017C>A (p.Arg673Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99910768C=CA1144066735AGLc.3757C= (p.Arg1253=)
n.3968C=
c.3709C= (p.Arg1237=)
c.3706C= (p.Arg1236=)
c.2017C= (p.Arg673=)
1g.99910768C>GCA341337654AGLc.3757C>G (p.Arg1253Gly)
n.3968C>G
c.3709C>G (p.Arg1237Gly)
c.3706C>G (p.Arg1236Gly)
c.2017C>G (p.Arg673Gly)
1g.99910768C>TCA967207AGLc.3757C>T (p.Arg1253Cys)
n.3968C>T
c.3709C>T (p.Arg1237Cys)
c.3706C>T (p.Arg1236Cys)
c.2017C>T (p.Arg673Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.99910769G>ACA967208AGLc.3758G>A (p.Arg1253His)
n.3969G>A
c.3710G>A (p.Arg1237His)
c.3707G>A (p.Arg1236His)
c.2018G>A (p.Arg673His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910769G>CCA341337661AGLc.3758G>C (p.Arg1253Pro)
n.3969G>C
c.3710G>C (p.Arg1237Pro)
c.3707G>C (p.Arg1236Pro)
c.2018G>C (p.Arg673Pro)
1g.99910769G=CA1140314085AGLc.3758G= (p.Arg1253=)
n.3969G=
c.3710G= (p.Arg1237=)
c.3707G= (p.Arg1236=)
c.2018G= (p.Arg673=)
1g.99910769G>TCA341337667AGLc.3758G>T (p.Arg1253Leu)
n.3969G>T
c.3710G>T (p.Arg1237Leu)
c.3707G>T (p.Arg1236Leu)
c.2018G>T (p.Arg673Leu)
1g.99910770T>ACA419091208AGLc.3759T>A (p.Arg1253=)
n.3970T>A
c.3711T>A (p.Arg1237=)
c.3708T>A (p.Arg1236=)
c.2019T>A (p.Arg673=)
1g.99910770T>CCA967209AGLc.3759T>C (p.Arg1253=)
n.3970T>C
c.3711T>C (p.Arg1237=)
c.3708T>C (p.Arg1236=)
c.2019T>C (p.Arg673=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910770T>GCA419091213AGLc.3759T>G (p.Arg1253=)
n.3970T>G
c.3711T>G (p.Arg1237=)
c.3708T>G (p.Arg1236=)
c.2019T>G (p.Arg673=)
1g.99910770T=CA1149105029AGLc.3759T= (p.Arg1253=)
n.3970T=
c.3711T= (p.Arg1237=)
c.3708T= (p.Arg1236=)
c.2019T= (p.Arg673=)
1g.99910771T>ACA341337675AGLc.3760T>A (p.Phe1254Ile)
n.3971T>A
c.3712T>A (p.Phe1238Ile)
c.3709T>A (p.Phe1237Ile)
c.2020T>A (p.Phe674Ile)
1g.99910771T>CCA341337677AGLc.3760T>C (p.Phe1254Leu)
n.3971T>C
c.3712T>C (p.Phe1238Leu)
c.3709T>C (p.Phe1237Leu)
c.2020T>C (p.Phe674Leu)
1g.99910771T>GCA341337688AGLc.3760T>G (p.Phe1254Val)
n.3971T>G
c.3712T>G (p.Phe1238Val)
c.3709T>G (p.Phe1237Val)
c.2020T>G (p.Phe674Val)
1g.99910772T>ACA341337691AGLc.3761T>A (p.Phe1254Tyr)
n.3972T>A
c.3713T>A (p.Phe1238Tyr)
c.3710T>A (p.Phe1237Tyr)
c.2021T>A (p.Phe674Tyr)
1g.99910772T>CCA341337693AGLc.3761T>C (p.Phe1254Ser)
n.3972T>C
c.3713T>C (p.Phe1238Ser)
c.3710T>C (p.Phe1237Ser)
c.2021T>C (p.Phe674Ser)
1g.99910772T>GCA341337695AGLc.3761T>G (p.Phe1254Cys)
n.3972T>G
c.3713T>G (p.Phe1238Cys)
c.3710T>G (p.Phe1237Cys)
c.2021T>G (p.Phe674Cys)
1g.99910773C>ACA341337698AGLc.3762C>A (p.Phe1254Leu)
n.3973C>A
c.3714C>A (p.Phe1238Leu)
c.3711C>A (p.Phe1237Leu)
c.2022C>A (p.Phe674Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99910773C=CA1183941661AGLc.3762C= (p.Phe1254=)
n.3973C=
c.3714C= (p.Phe1238=)
c.3711C= (p.Phe1237=)
c.2022C= (p.Phe674=)
1g.99910773C>GCA341337696AGLc.3762C>G (p.Phe1254Leu)
n.3973C>G
c.3714C>G (p.Phe1238Leu)
c.3711C>G (p.Phe1237Leu)
c.2022C>G (p.Phe674Leu)
1g.99910773C>TCA419091224AGLc.3762C>T (p.Phe1254=)
n.3973C>T
c.3714C>T (p.Phe1238=)
c.3711C>T (p.Phe1237=)
c.2022C>T (p.Phe674=)
1g.99910774A>CCA341337700AGLc.3763A>C (p.Asn1255His)
n.3974A>C
c.3715A>C (p.Asn1239His)
c.3712A>C (p.Asn1238His)
c.2023A>C (p.Asn675His)
1g.99910774A>GCA341337703AGLc.3763A>G (p.Asn1255Asp)
n.3974A>G
c.3715A>G (p.Asn1239Asp)
c.3712A>G (p.Asn1238Asp)
c.2023A>G (p.Asn675Asp)
1g.99910774A>TCA341337705AGLc.3763A>T (p.Asn1255Tyr)
n.3974A>T
c.3715A>T (p.Asn1239Tyr)
c.3712A>T (p.Asn1238Tyr)
c.2023A>T (p.Asn675Tyr)
1g.99910775A=CA1141598856AGLc.3764A= (p.Asn1255=)
n.3975A=
c.3716A= (p.Asn1239=)
c.3713A= (p.Asn1238=)
c.2024A= (p.Asn675=)
1g.99910775A>CCA967211AGLc.3764A>C (p.Asn1255Thr)
n.3975A>C
c.3716A>C (p.Asn1239Thr)
c.3713A>C (p.Asn1238Thr)
c.2024A>C (p.Asn675Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99910775A>GCA967210AGLc.3764A>G (p.Asn1255Ser)
n.3975A>G
c.3716A>G (p.Asn1239Ser)
c.3713A>G (p.Asn1238Ser)
c.2024A>G (p.Asn675Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99910775A>TCA341337707AGLc.3764A>T (p.Asn1255Ile)
n.3975A>T
c.3716A>T (p.Asn1239Ile)
c.3713A>T (p.Asn1238Ile)
c.2024A>T (p.Asn675Ile)
1g.99910776T>ACA341337708AGLc.3765T>A (p.Asn1255Lys)
n.3976T>A
c.3717T>A (p.Asn1239Lys)
c.3714T>A (p.Asn1238Lys)
c.2025T>A (p.Asn675Lys)
1g.99910776T>CCA419091237AGLc.3765T>C (p.Asn1255=)
n.3976T>C
c.3717T>C (p.Asn1239=)
c.3714T>C (p.Asn1238=)
c.2025T>C (p.Asn675=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99910776T>GCA341337710AGLc.3765T>G (p.Asn1255Lys)
n.3976T>G
c.3717T>G (p.Asn1239Lys)
c.3714T>G (p.Asn1238Lys)
c.2025T>G (p.Asn675Lys)
1g.99910776T=CA1183941665AGLc.3765T= (p.Asn1255=)
n.3976T=
c.3717T= (p.Asn1239=)
c.3714T= (p.Asn1238=)
c.2025T= (p.Asn675=)
1g.99910777T>ACA341337712AGLc.3766T>A (p.Cys1256Ser)
n.3977T>A
c.3718T>A (p.Cys1240Ser)
c.3715T>A (p.Cys1239Ser)
c.2026T>A (p.Cys676Ser)
1g.99910777T>CCA341337716AGLc.3766T>C (p.Cys1256Arg)
n.3977T>C
c.3718T>C (p.Cys1240Arg)
c.3715T>C (p.Cys1239Arg)
c.2026T>C (p.Cys676Arg)
 dbSNP
1g.99910777T>GCA341337718AGLc.3766T>G (p.Cys1256Gly)
n.3977T>G
c.3718T>G (p.Cys1240Gly)
c.3715T>G (p.Cys1239Gly)
c.2026T>G (p.Cys676Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.99910777T=CA1183941667AGLc.3766T= (p.Cys1256=)
n.3977T=
c.3718T= (p.Cys1240=)
c.3715T= (p.Cys1239=)
c.2026T= (p.Cys676=)
1g.99910778G>ACA341337723AGLc.3767G>A (p.Cys1256Tyr)
n.3978G>A
c.3719G>A (p.Cys1240Tyr)
c.3716G>A (p.Cys1239Tyr)
c.2027G>A (p.Cys676Tyr)
1g.99910778G>CCA341337725AGLc.3767G>C (p.Cys1256Ser)
n.3978G>C
c.3719G>C (p.Cys1240Ser)
c.3716G>C (p.Cys1239Ser)
c.2027G>C (p.Cys676Ser)
1g.99910778G>TCA341337727AGLc.3767G>T (p.Cys1256Phe)
n.3978G>T
c.3719G>T (p.Cys1240Phe)
c.3716G>T (p.Cys1239Phe)
c.2027G>T (p.Cys676Phe)
 ClinVar gnomAD v4
1g.99910779T>ACA341337728AGLc.3768T>A (p.Cys1256Ter)
n.3979T>A
c.3720T>A (p.Cys1240Ter)
c.3717T>A (p.Cys1239Ter)
c.2028T>A (p.Cys676Ter)
1g.99910779T>CCA419091250AGLc.3768T>C (p.Cys1256=)
n.3979T>C
c.3720T>C (p.Cys1240=)
c.3717T>C (p.Cys1239=)
c.2028T>C (p.Cys676=)
1g.99910779T>GCA341337730AGLc.3768T>G (p.Cys1256Trp)
n.3979T>G
c.3720T>G (p.Cys1240Trp)
c.3717T>G (p.Cys1239Trp)
c.2028T>G (p.Cys676Trp)

Number of alleles fetched