Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.15218765T>CCA2490796171NBASc.4418+8A>G
c.4426+13657A>G
c.943+8A>G
c.2288+8A>G
c.6432+8A>G (n.6432+8A>G)
c.512+13657A>G (n.512+13657A>G)
c.3575+8A>G
n.6280+13657A>G
c.6303+8A>G (n.6303+8A>G)
c.5793+8A>G (n.5793+8A>G)
c.4233+8A>G (n.4233+8A>G)
c.4224+8A>G (n.4224+8A>G)
n.6266+13657A>G
 dbSNP
2g.15218765T=CA2490796170NBASc.4418+8A=
c.4426+13657A=
c.943+8A=
c.2288+8A=
c.6432+8A= (n.6432+8A=)
c.512+13657A= (n.512+13657A=)
c.3575+8A=
n.6280+13657A=
c.6303+8A= (n.6303+8A=)
c.5793+8A= (n.5793+8A=)
c.4233+8A= (n.4233+8A=)
c.4224+8A= (n.4224+8A=)
n.6266+13657A=
2g.15218766C>ACA531314713NBASc.4418+7G>T
c.4426+13656G>T
c.943+7G>T
c.2288+7G>T
c.6432+7G>T (n.6432+7G>T)
c.512+13656G>T (n.512+13656G>T)
c.3575+7G>T
n.6280+13656G>T
c.6303+7G>T (n.6303+7G>T)
c.5793+7G>T (n.5793+7G>T)
c.4233+7G>T (n.4233+7G>T)
c.4224+7G>T (n.4224+7G>T)
n.6266+13656G>T
 dbSNP gnomAD v2 gnomAD v4
2g.15218766C=CA2490796172NBASc.4418+7G=
c.4426+13656G=
c.943+7G=
c.2288+7G=
c.6432+7G= (n.6432+7G=)
c.512+13656G= (n.512+13656G=)
c.3575+7G=
n.6280+13656G=
c.6303+7G= (n.6303+7G=)
c.5793+7G= (n.5793+7G=)
c.4233+7G= (n.4233+7G=)
c.4224+7G= (n.4224+7G=)
n.6266+13656G=
2g.15218766C>GCA1535015NBASc.4418+7G>C
c.4426+13656G>C
c.943+7G>C
c.2288+7G>C
c.6432+7G>C (n.6432+7G>C)
c.512+13656G>C (n.512+13656G>C)
c.3575+7G>C
n.6280+13656G>C
c.6303+7G>C (n.6303+7G>C)
c.5793+7G>C (n.5793+7G>C)
c.4233+7G>C (n.4233+7G>C)
c.4224+7G>C (n.4224+7G>C)
n.6266+13656G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218766C>TCA1535016NBASc.4418+7G>A
c.4426+13656G>A
c.943+7G>A
c.2288+7G>A
c.6432+7G>A (n.6432+7G>A)
c.512+13656G>A (n.512+13656G>A)
c.3575+7G>A
n.6280+13656G>A
c.6303+7G>A (n.6303+7G>A)
c.5793+7G>A (n.5793+7G>A)
c.4233+7G>A (n.4233+7G>A)
c.4224+7G>A (n.4224+7G>A)
n.6266+13656G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218767C>TCA2576680240NBASc.4418+6G>A
c.4426+13655G>A
c.943+6G>A
c.2288+6G>A
c.6432+6G>A (n.6432+6G>A)
c.512+13655G>A (n.512+13655G>A)
c.3575+6G>A
n.6280+13655G>A
c.6303+6G>A (n.6303+6G>A)
c.5793+6G>A (n.5793+6G>A)
c.4233+6G>A (n.4233+6G>A)
c.4224+6G>A (n.4224+6G>A)
n.6266+13655G>A
 gnomAD v4
2g.15218768C>ACA2490796174NBASc.4418+5G>T
c.4426+13654G>T
c.943+5G>T
c.2288+5G>T
c.6432+5G>T (n.6432+5G>T)
c.512+13654G>T (n.512+13654G>T)
c.3575+5G>T
n.6280+13654G>T
c.6303+5G>T (n.6303+5G>T)
c.5793+5G>T (n.5793+5G>T)
c.4233+5G>T (n.4233+5G>T)
c.4224+5G>T (n.4224+5G>T)
n.6266+13654G>T
 dbSNP gnomAD v4
2g.15218768C=CA2490796173NBASc.4418+5G=
c.4426+13654G=
c.943+5G=
c.2288+5G=
c.6432+5G= (n.6432+5G=)
c.512+13654G= (n.512+13654G=)
c.3575+5G=
n.6280+13654G=
c.6303+5G= (n.6303+5G=)
c.5793+5G= (n.5793+5G=)
c.4233+5G= (n.4233+5G=)
c.4224+5G= (n.4224+5G=)
n.6266+13654G=
2g.15218768C>GCA42584258NBASc.4418+5G>C
c.4426+13654G>C
c.943+5G>C
c.2288+5G>C
c.6432+5G>C (n.6432+5G>C)
c.512+13654G>C (n.512+13654G>C)
c.3575+5G>C
n.6280+13654G>C
c.6303+5G>C (n.6303+5G>C)
c.5793+5G>C (n.5793+5G>C)
c.4233+5G>C (n.4233+5G>C)
c.4224+5G>C (n.4224+5G>C)
n.6266+13654G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218768C>TCA2657931624NBASc.4418+5G>A
c.4426+13654G>A
c.943+5G>A
c.2288+5G>A
c.6432+5G>A (n.6432+5G>A)
c.512+13654G>A (n.512+13654G>A)
c.3575+5G>A
n.6280+13654G>A
c.6303+5G>A (n.6303+5G>A)
c.5793+5G>A (n.5793+5G>A)
c.4233+5G>A (n.4233+5G>A)
c.4224+5G>A (n.4224+5G>A)
n.6266+13654G>A
 gnomAD v4
2g.15218770T>CCA2657931625NBASc.4418+3A>G
c.4426+13652A>G
c.943+3A>G
c.2288+3A>G
c.6432+3A>G (n.6432+3A>G)
c.512+13652A>G (n.512+13652A>G)
c.3575+3A>G
n.6280+13652A>G
c.6303+3A>G (n.6303+3A>G)
c.5793+3A>G (n.5793+3A>G)
c.4233+3A>G (n.4233+3A>G)
c.4224+3A>G (n.4224+3A>G)
n.6266+13652A>G
 gnomAD v4
2g.15218771A>CCA345883679NBASc.4418+2T>G
c.4426+13651T>G
c.943+2T>G
c.2288+2T>G
c.6432+2T>G (n.6432+2T>G)
c.512+13651T>G (n.512+13651T>G)
c.3575+2T>G
n.6280+13651T>G
c.6303+2T>G (n.6303+2T>G)
c.5793+2T>G (n.5793+2T>G)
c.4233+2T>G (n.4233+2T>G)
c.4224+2T>G (n.4224+2T>G)
n.6266+13651T>G
2g.15218771A>GCA345883681NBASc.4418+2T>C
c.4426+13651T>C
c.943+2T>C
c.2288+2T>C
c.6432+2T>C (n.6432+2T>C)
c.512+13651T>C (n.512+13651T>C)
c.3575+2T>C
n.6280+13651T>C
c.6303+2T>C (n.6303+2T>C)
c.5793+2T>C (n.5793+2T>C)
c.4233+2T>C (n.4233+2T>C)
c.4224+2T>C (n.4224+2T>C)
n.6266+13651T>C
2g.15218771A>TCA345883683NBASc.4418+2T>A
c.4426+13651T>A
c.943+2T>A
c.2288+2T>A
c.6432+2T>A (n.6432+2T>A)
c.512+13651T>A (n.512+13651T>A)
c.3575+2T>A
n.6280+13651T>A
c.6303+2T>A (n.6303+2T>A)
c.5793+2T>A (n.5793+2T>A)
c.4233+2T>A (n.4233+2T>A)
c.4224+2T>A (n.4224+2T>A)
n.6266+13651T>A
2g.15218772C>ACA345883684NBASc.4418+1G>T
c.4426+13650G>T
c.943+1G>T
c.2288+1G>T
c.6432+1G>T (n.6432+1G>T)
c.512+13650G>T (n.512+13650G>T)
c.3575+1G>T
n.6280+13650G>T
c.6303+1G>T (n.6303+1G>T)
c.5793+1G>T (n.5793+1G>T)
c.4233+1G>T (n.4233+1G>T)
c.4224+1G>T (n.4224+1G>T)
n.6266+13650G>T
 COSMIC
2g.15218772C>GCA345883686NBASc.4418+1G>C
c.4426+13650G>C
c.943+1G>C
c.2288+1G>C
c.6432+1G>C (n.6432+1G>C)
c.512+13650G>C (n.512+13650G>C)
c.3575+1G>C
n.6280+13650G>C
c.6303+1G>C (n.6303+1G>C)
c.5793+1G>C (n.5793+1G>C)
c.4233+1G>C (n.4233+1G>C)
c.4224+1G>C (n.4224+1G>C)
n.6266+13650G>C
2g.15218772C>TCA345883687NBASc.4418+1G>A
c.4426+13650G>A
c.943+1G>A
c.2288+1G>A
c.6432+1G>A (n.6432+1G>A)
c.512+13650G>A (n.512+13650G>A)
c.3575+1G>A
n.6280+13650G>A
c.6303+1G>A (n.6303+1G>A)
c.5793+1G>A (n.5793+1G>A)
c.4233+1G>A (n.4233+1G>A)
c.4224+1G>A (n.4224+1G>A)
n.6266+13650G>A
2g.15218773C>ACA345883688NBASc.4418G>T
c.4426+13649G>T
c.943G>T
c.2288G>T
c.6432G>T (p.Gln2144His)
c.512+13649G>T (n.512+13649G>T)
c.3575G>T
n.6280+13649G>T
c.6303G>T (p.Gln2101His)
c.5793G>T (p.Gln1931His)
c.4233G>T (p.Gln1411His)
c.4224G>T (p.Gln1408His)
n.6266+13649G>T
2g.15218773C>GCA345883691NBASc.4418G>C
c.4426+13649G>C
c.943G>C
c.2288G>C
c.6432G>C (p.Gln2144His)
c.512+13649G>C (n.512+13649G>C)
c.3575G>C
n.6280+13649G>C
c.6303G>C (p.Gln2101His)
c.5793G>C (p.Gln1931His)
c.4233G>C (p.Gln1411His)
c.4224G>C (p.Gln1408His)
n.6266+13649G>C
2g.15218773C>TCA424866895NBASc.4418G>A
c.4426+13649G>A
c.943G>A
c.2288G>A
c.6432G>A (p.Gln2144=)
c.512+13649G>A (n.512+13649G>A)
c.3575G>A
n.6280+13649G>A
c.6303G>A (p.Gln2101=)
c.5793G>A (p.Gln1931=)
c.4233G>A (p.Gln1411=)
c.4224G>A (p.Gln1408=)
n.6266+13649G>A
2g.15218774T>ACA345883697NBASc.4417A>T
c.4426+13648A>T
c.942A>T
c.2287A>T
c.6431A>T (p.Gln2144Leu)
c.512+13648A>T (n.512+13648A>T)
c.3574A>T
n.6280+13648A>T
c.6302A>T (p.Gln2101Leu)
c.5792A>T (p.Gln1931Leu)
c.4232A>T (p.Gln1411Leu)
c.4223A>T (p.Gln1408Leu)
n.6266+13648A>T
 COSMIC
2g.15218774T>CCA345883694NBASc.4417A>G
c.4426+13648A>G
c.942A>G
c.2287A>G
c.6431A>G (p.Gln2144Arg)
c.512+13648A>G (n.512+13648A>G)
c.3574A>G
n.6280+13648A>G
c.6302A>G (p.Gln2101Arg)
c.5792A>G (p.Gln1931Arg)
c.4232A>G (p.Gln1411Arg)
c.4223A>G (p.Gln1408Arg)
n.6266+13648A>G
 gnomAD v4
2g.15218774T>GCA42584265NBASc.4417A>C
c.4426+13648A>C
c.942A>C
c.2287A>C
c.6431A>C (p.Gln2144Pro)
c.512+13648A>C (n.512+13648A>C)
c.3574A>C
n.6280+13648A>C
c.6302A>C (p.Gln2101Pro)
c.5792A>C (p.Gln1931Pro)
c.4232A>C (p.Gln1411Pro)
c.4223A>C (p.Gln1408Pro)
n.6266+13648A>C
 ClinVar dbSNP gnomAD v4
2g.15218774T=CA2490796175NBASc.4417A=
c.4426+13648A=
c.942A=
c.2287A=
c.6431A= (p.Gln2144=)
c.512+13648A= (n.512+13648A=)
c.3574A=
n.6280+13648A=
c.6302A= (p.Gln2101=)
c.5792A= (p.Gln1931=)
c.4232A= (p.Gln1411=)
c.4223A= (p.Gln1408=)
n.6266+13648A=
2g.15218775G>ACA345883699NBASc.4416C>T
c.4426+13647C>T
c.941C>T
c.2286C>T
c.6430C>T (p.Gln2144Ter)
c.512+13647C>T (n.512+13647C>T)
c.3573C>T
n.6280+13647C>T
c.6301C>T (p.Gln2101Ter)
c.5791C>T (p.Gln1931Ter)
c.4231C>T (p.Gln1411Ter)
c.4222C>T (p.Gln1408Ter)
n.6266+13647C>T
2g.15218775G>CCA345883700NBASc.4416C>G
c.4426+13647C>G
c.941C>G
c.2286C>G
c.6430C>G (p.Gln2144Glu)
c.512+13647C>G (n.512+13647C>G)
c.3573C>G
n.6280+13647C>G
c.6301C>G (p.Gln2101Glu)
c.5791C>G (p.Gln1931Glu)
c.4231C>G (p.Gln1411Glu)
c.4222C>G (p.Gln1408Glu)
n.6266+13647C>G
2g.15218775G>TCA345883701NBASc.4416C>A
c.4426+13647C>A
c.941C>A
c.2286C>A
c.6430C>A (p.Gln2144Lys)
c.512+13647C>A (n.512+13647C>A)
c.3573C>A
n.6280+13647C>A
c.6301C>A (p.Gln2101Lys)
c.5791C>A (p.Gln1931Lys)
c.4231C>A (p.Gln1411Lys)
c.4222C>A (p.Gln1408Lys)
n.6266+13647C>A
2g.15218776T>ACA345883703NBASc.4415A>T
c.4426+13646A>T
c.940A>T
c.2285A>T
c.6429A>T (p.Arg2143Ser)
c.512+13646A>T (n.512+13646A>T)
c.3572A>T
n.6280+13646A>T
c.6300A>T (p.Arg2100Ser)
c.5790A>T (p.Arg1930Ser)
c.4230A>T (p.Arg1410Ser)
c.4221A>T (p.Arg1407Ser)
n.6266+13646A>T
2g.15218776T>CCA424866896NBASc.4415A>G
c.4426+13646A>G
c.940A>G
c.2285A>G
c.6429A>G (p.Arg2143=)
c.512+13646A>G (n.512+13646A>G)
c.3572A>G
n.6280+13646A>G
c.6300A>G (p.Arg2100=)
c.5790A>G (p.Arg1930=)
c.4230A>G (p.Arg1410=)
c.4221A>G (p.Arg1407=)
n.6266+13646A>G
 gnomAD v4
2g.15218776T>GCA345883705NBASc.4415A>C
c.4426+13646A>C
c.940A>C
c.2285A>C
c.6429A>C (p.Arg2143Ser)
c.512+13646A>C (n.512+13646A>C)
c.3572A>C
n.6280+13646A>C
c.6300A>C (p.Arg2100Ser)
c.5790A>C (p.Arg1930Ser)
c.4230A>C (p.Arg1410Ser)
c.4221A>C (p.Arg1407Ser)
n.6266+13646A>C
2g.15218777C>ACA345883707NBASc.4414G>T
c.4426+13645G>T
c.939G>T
c.2284G>T
c.6428G>T (p.Arg2143Ile)
c.512+13645G>T (n.512+13645G>T)
c.3571G>T
n.6280+13645G>T
c.6299G>T (p.Arg2100Ile)
c.5789G>T (p.Arg1930Ile)
c.4229G>T (p.Arg1410Ile)
c.4220G>T (p.Arg1407Ile)
n.6266+13645G>T
2g.15218777C>GCA345883709NBASc.4414G>C
c.4426+13645G>C
c.939G>C
c.2284G>C
c.6428G>C (p.Arg2143Thr)
c.512+13645G>C (n.512+13645G>C)
c.3571G>C
n.6280+13645G>C
c.6299G>C (p.Arg2100Thr)
c.5789G>C (p.Arg1930Thr)
c.4229G>C (p.Arg1410Thr)
c.4220G>C (p.Arg1407Thr)
n.6266+13645G>C
 gnomAD v4
2g.15218777C>TCA345883711NBASc.4414G>A
c.4426+13645G>A
c.939G>A
c.2284G>A
c.6428G>A (p.Arg2143Lys)
c.512+13645G>A (n.512+13645G>A)
c.3571G>A
n.6280+13645G>A
c.6299G>A (p.Arg2100Lys)
c.5789G>A (p.Arg1930Lys)
c.4229G>A (p.Arg1410Lys)
c.4220G>A (p.Arg1407Lys)
n.6266+13645G>A
2g.15218778T>ACA345883714NBASc.4413A>T
c.4426+13644A>T
c.938A>T
c.2283A>T
c.6427A>T (p.Arg2143Ter)
c.512+13644A>T (n.512+13644A>T)
c.3570A>T
n.6280+13644A>T
c.6298A>T (p.Arg2100Ter)
c.5788A>T (p.Arg1930Ter)
c.4228A>T (p.Arg1410Ter)
c.4219A>T (p.Arg1407Ter)
n.6266+13644A>T
2g.15218778T>CCA345883716NBASc.4413A>G
c.4426+13644A>G
c.938A>G
c.2283A>G
c.6427A>G (p.Arg2143Gly)
c.512+13644A>G (n.512+13644A>G)
c.3570A>G
n.6280+13644A>G
c.6298A>G (p.Arg2100Gly)
c.5788A>G (p.Arg1930Gly)
c.4228A>G (p.Arg1410Gly)
c.4219A>G (p.Arg1407Gly)
n.6266+13644A>G
2g.15218778T>GCA424866897NBASc.4413A>C
c.4426+13644A>C
c.938A>C
c.2283A>C
c.6427A>C (p.Arg2143=)
c.512+13644A>C (n.512+13644A>C)
c.3570A>C
n.6280+13644A>C
c.6298A>C (p.Arg2100=)
c.5788A>C (p.Arg1930=)
c.4228A>C (p.Arg1410=)
c.4219A>C (p.Arg1407=)
n.6266+13644A>C
 dbSNP
2g.15218778T=CA2490796176NBASc.4413A=
c.4426+13644A=
c.938A=
c.2283A=
c.6427A= (p.Arg2143=)
c.512+13644A= (n.512+13644A=)
c.3570A=
n.6280+13644A=
c.6298A= (p.Arg2100=)
c.5788A= (p.Arg1930=)
c.4228A= (p.Arg1410=)
c.4219A= (p.Arg1407=)
n.6266+13644A=
2g.15218779C>ACA345883719NBASc.4412G>T
c.4426+13643G>T
c.937G>T
c.2282G>T
c.6426G>T (p.Gln2142His)
c.512+13643G>T (n.512+13643G>T)
c.3569G>T
n.6280+13643G>T
c.6297G>T (p.Gln2099His)
c.5787G>T (p.Gln1929His)
c.4227G>T (p.Gln1409His)
c.4218G>T (p.Gln1406His)
n.6266+13643G>T
2g.15218779C>GCA345883720NBASc.4412G>C
c.4426+13643G>C
c.937G>C
c.2282G>C
c.6426G>C (p.Gln2142His)
c.512+13643G>C (n.512+13643G>C)
c.3569G>C
n.6280+13643G>C
c.6297G>C (p.Gln2099His)
c.5787G>C (p.Gln1929His)
c.4227G>C (p.Gln1409His)
c.4218G>C (p.Gln1406His)
n.6266+13643G>C
2g.15218779C>TCA424866898NBASc.4412G>A
c.4426+13643G>A
c.937G>A
c.2282G>A
c.6426G>A (p.Gln2142=)
c.512+13643G>A (n.512+13643G>A)
c.3569G>A
n.6280+13643G>A
c.6297G>A (p.Gln2099=)
c.5787G>A (p.Gln1929=)
c.4227G>A (p.Gln1409=)
c.4218G>A (p.Gln1406=)
n.6266+13643G>A
2g.15218780T>ACA345883722NBASc.4411A>T
c.4426+13642A>T
c.936A>T
c.2281A>T
c.6425A>T (p.Gln2142Leu)
c.512+13642A>T (n.512+13642A>T)
c.3568A>T
n.6280+13642A>T
c.6296A>T (p.Gln2099Leu)
c.5786A>T (p.Gln1929Leu)
c.4226A>T (p.Gln1409Leu)
c.4217A>T (p.Gln1406Leu)
n.6266+13642A>T
2g.15218780T>CCA345883726NBASc.4411A>G
c.4426+13642A>G
c.936A>G
c.2281A>G
c.6425A>G (p.Gln2142Arg)
c.512+13642A>G (n.512+13642A>G)
c.3568A>G
n.6280+13642A>G
c.6296A>G (p.Gln2099Arg)
c.5786A>G (p.Gln1929Arg)
c.4226A>G (p.Gln1409Arg)
c.4217A>G (p.Gln1406Arg)
n.6266+13642A>G
2g.15218780T>GCA345883724NBASc.4411A>C
c.4426+13642A>C
c.936A>C
c.2281A>C
c.6425A>C (p.Gln2142Pro)
c.512+13642A>C (n.512+13642A>C)
c.3568A>C
n.6280+13642A>C
c.6296A>C (p.Gln2099Pro)
c.5786A>C (p.Gln1929Pro)
c.4226A>C (p.Gln1409Pro)
c.4217A>C (p.Gln1406Pro)
n.6266+13642A>C
2g.15218781G>ACA345883728NBASc.4410C>T
c.4426+13641C>T
c.935C>T
c.2280C>T
c.6424C>T (p.Gln2142Ter)
c.512+13641C>T (n.512+13641C>T)
c.3567C>T
n.6280+13641C>T
c.6295C>T (p.Gln2099Ter)
c.5785C>T (p.Gln1929Ter)
c.4225C>T (p.Gln1409Ter)
c.4216C>T (p.Gln1406Ter)
n.6266+13641C>T
2g.15218781G>CCA345883732NBASc.4410C>G
c.4426+13641C>G
c.935C>G
c.2280C>G
c.6424C>G (p.Gln2142Glu)
c.512+13641C>G (n.512+13641C>G)
c.3567C>G
n.6280+13641C>G
c.6295C>G (p.Gln2099Glu)
c.5785C>G (p.Gln1929Glu)
c.4225C>G (p.Gln1409Glu)
c.4216C>G (p.Gln1406Glu)
n.6266+13641C>G
2g.15218781G>TCA345883730NBASc.4410C>A
c.4426+13641C>A
c.935C>A
c.2280C>A
c.6424C>A (p.Gln2142Lys)
c.512+13641C>A (n.512+13641C>A)
c.3567C>A
n.6280+13641C>A
c.6295C>A (p.Gln2099Lys)
c.5785C>A (p.Gln1929Lys)
c.4225C>A (p.Gln1409Lys)
c.4216C>A (p.Gln1406Lys)
n.6266+13641C>A
2g.15218782G>ACA424866899NBASc.4409C>T
c.4426+13640C>T
c.934C>T
c.2279C>T
c.6423C>T (p.Pro2141=)
c.512+13640C>T (n.512+13640C>T)
c.3566C>T
n.6280+13640C>T
c.6294C>T (p.Pro2098=)
c.5784C>T (p.Pro1928=)
c.4224C>T (p.Pro1408=)
c.4215C>T (p.Pro1405=)
n.6266+13640C>T
 gnomAD v4 COSMIC
2g.15218782G>CCA424866900NBASc.4409C>G
c.4426+13640C>G
c.934C>G
c.2279C>G
c.6423C>G (p.Pro2141=)
c.512+13640C>G (n.512+13640C>G)
c.3566C>G
n.6280+13640C>G
c.6294C>G (p.Pro2098=)
c.5784C>G (p.Pro1928=)
c.4224C>G (p.Pro1408=)
c.4215C>G (p.Pro1405=)
n.6266+13640C>G
 gnomAD v4
2g.15218782G>TCA424866901NBASc.4409C>A
c.4426+13640C>A
c.934C>A
c.2279C>A
c.6423C>A (p.Pro2141=)
c.512+13640C>A (n.512+13640C>A)
c.3566C>A
n.6280+13640C>A
c.6294C>A (p.Pro2098=)
c.5784C>A (p.Pro1928=)
c.4224C>A (p.Pro1408=)
c.4215C>A (p.Pro1405=)
n.6266+13640C>A
2g.15218783G>ACA345883734NBASc.4408C>T
c.4426+13639C>T
c.933C>T
c.2278C>T
c.6422C>T (p.Pro2141Leu)
c.512+13639C>T (n.512+13639C>T)
c.3565C>T
n.6280+13639C>T
c.6293C>T (p.Pro2098Leu)
c.5783C>T (p.Pro1928Leu)
c.4223C>T (p.Pro1408Leu)
c.4214C>T (p.Pro1405Leu)
n.6266+13639C>T
2g.15218783G>CCA345883737NBASc.4408C>G
c.4426+13639C>G
c.933C>G
c.2278C>G
c.6422C>G (p.Pro2141Arg)
c.512+13639C>G (n.512+13639C>G)
c.3565C>G
n.6280+13639C>G
c.6293C>G (p.Pro2098Arg)
c.5783C>G (p.Pro1928Arg)
c.4223C>G (p.Pro1408Arg)
c.4214C>G (p.Pro1405Arg)
n.6266+13639C>G
 gnomAD v4
2g.15218783G=CA2490796177NBASc.4408C=
c.4426+13639C=
c.933C=
c.2278C=
c.6422C= (p.Pro2141=)
c.512+13639C= (n.512+13639C=)
c.3565C=
n.6280+13639C=
c.6293C= (p.Pro2098=)
c.5783C= (p.Pro1928=)
c.4223C= (p.Pro1408=)
c.4214C= (p.Pro1405=)
n.6266+13639C=
2g.15218783G>TCA1535017NBASc.4408C>A
c.4426+13639C>A
c.933C>A
c.2278C>A
c.6422C>A (p.Pro2141His)
c.512+13639C>A (n.512+13639C>A)
c.3565C>A
n.6280+13639C>A
c.6293C>A (p.Pro2098His)
c.5783C>A (p.Pro1928His)
c.4223C>A (p.Pro1408His)
c.4214C>A (p.Pro1405His)
n.6266+13639C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218784G>ACA345883739NBASc.4407C>T
c.4426+13638C>T
c.932C>T
c.2277C>T
c.6421C>T (p.Pro2141Ser)
c.512+13638C>T (n.512+13638C>T)
c.3564C>T
n.6280+13638C>T
c.6292C>T (p.Pro2098Ser)
c.5782C>T (p.Pro1928Ser)
c.4222C>T (p.Pro1408Ser)
c.4213C>T (p.Pro1405Ser)
n.6266+13638C>T
 gnomAD v4
2g.15218784G>CCA345883743NBASc.4407C>G
c.4426+13638C>G
c.932C>G
c.2277C>G
c.6421C>G (p.Pro2141Ala)
c.512+13638C>G (n.512+13638C>G)
c.3564C>G
n.6280+13638C>G
c.6292C>G (p.Pro2098Ala)
c.5782C>G (p.Pro1928Ala)
c.4222C>G (p.Pro1408Ala)
c.4213C>G (p.Pro1405Ala)
n.6266+13638C>G
2g.15218784G>TCA345883741NBASc.4407C>A
c.4426+13638C>A
c.932C>A
c.2277C>A
c.6421C>A (p.Pro2141Thr)
c.512+13638C>A (n.512+13638C>A)
c.3564C>A
n.6280+13638C>A
c.6292C>A (p.Pro2098Thr)
c.5782C>A (p.Pro1928Thr)
c.4222C>A (p.Pro1408Thr)
c.4213C>A (p.Pro1405Thr)
n.6266+13638C>A
2g.15218785C>ACA345883745NBASc.4406G>T
c.4426+13637G>T
c.931G>T
c.2276G>T
c.6420G>T (p.Trp2140Cys)
c.512+13637G>T (n.512+13637G>T)
c.3563G>T
n.6280+13637G>T
c.6291G>T (p.Trp2097Cys)
c.5781G>T (p.Trp1927Cys)
c.4221G>T (p.Trp1407Cys)
c.4212G>T (p.Trp1404Cys)
n.6266+13637G>T
2g.15218785C>GCA345883747NBASc.4406G>C
c.4426+13637G>C
c.931G>C
c.2276G>C
c.6420G>C (p.Trp2140Cys)
c.512+13637G>C (n.512+13637G>C)
c.3563G>C
n.6280+13637G>C
c.6291G>C (p.Trp2097Cys)
c.5781G>C (p.Trp1927Cys)
c.4221G>C (p.Trp1407Cys)
c.4212G>C (p.Trp1404Cys)
n.6266+13637G>C
2g.15218785C>TCA345883748NBASc.4406G>A
c.4426+13637G>A
c.931G>A
c.2276G>A
c.6420G>A (p.Trp2140Ter)
c.512+13637G>A (n.512+13637G>A)
c.3563G>A
n.6280+13637G>A
c.6291G>A (p.Trp2097Ter)
c.5781G>A (p.Trp1927Ter)
c.4221G>A (p.Trp1407Ter)
c.4212G>A (p.Trp1404Ter)
n.6266+13637G>A
2g.15218786C>ACA345883750NBASc.4405G>T
c.4426+13636G>T
c.930G>T
c.2275G>T
c.6419G>T (p.Trp2140Leu)
c.512+13636G>T (n.512+13636G>T)
c.3562G>T
n.6280+13636G>T
c.6290G>T (p.Trp2097Leu)
c.5780G>T (p.Trp1927Leu)
c.4220G>T (p.Trp1407Leu)
c.4211G>T (p.Trp1404Leu)
n.6266+13636G>T
2g.15218786C>GCA345883753NBASc.4405G>C
c.4426+13636G>C
c.930G>C
c.2275G>C
c.6419G>C (p.Trp2140Ser)
c.512+13636G>C (n.512+13636G>C)
c.3562G>C
n.6280+13636G>C
c.6290G>C (p.Trp2097Ser)
c.5780G>C (p.Trp1927Ser)
c.4220G>C (p.Trp1407Ser)
c.4211G>C (p.Trp1404Ser)
n.6266+13636G>C
2g.15218786C>TCA345883755NBASc.4405G>A
c.4426+13636G>A
c.930G>A
c.2275G>A
c.6419G>A (p.Trp2140Ter)
c.512+13636G>A (n.512+13636G>A)
c.3562G>A
n.6280+13636G>A
c.6290G>A (p.Trp2097Ter)
c.5780G>A (p.Trp1927Ter)
c.4220G>A (p.Trp1407Ter)
c.4211G>A (p.Trp1404Ter)
n.6266+13636G>A
2g.15218787A=CA2490796178NBASc.4404T=
c.4426+13635T=
c.929T=
c.2274T=
c.6418T= (p.Trp2140=)
c.512+13635T= (n.512+13635T=)
c.3561T=
n.6280+13635T=
c.6289T= (p.Trp2097=)
c.5779T= (p.Trp1927=)
c.4219T= (p.Trp1407=)
c.4210T= (p.Trp1404=)
n.6266+13635T=
2g.15218787A>CCA345883757NBASc.4404T>G
c.4426+13635T>G
c.929T>G
c.2274T>G
c.6418T>G (p.Trp2140Gly)
c.512+13635T>G (n.512+13635T>G)
c.3561T>G
n.6280+13635T>G
c.6289T>G (p.Trp2097Gly)
c.5779T>G (p.Trp1927Gly)
c.4219T>G (p.Trp1407Gly)
c.4210T>G (p.Trp1404Gly)
n.6266+13635T>G
2g.15218787A>GCA1535018NBASc.4404T>C
c.4426+13635T>C
c.929T>C
c.2274T>C
c.6418T>C (p.Trp2140Arg)
c.512+13635T>C (n.512+13635T>C)
c.3561T>C
n.6280+13635T>C
c.6289T>C (p.Trp2097Arg)
c.5779T>C (p.Trp1927Arg)
c.4219T>C (p.Trp1407Arg)
c.4210T>C (p.Trp1404Arg)
n.6266+13635T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218787A>TCA345883760NBASc.4404T>A
c.4426+13635T>A
c.929T>A
c.2274T>A
c.6418T>A (p.Trp2140Arg)
c.512+13635T>A (n.512+13635T>A)
c.3561T>A
n.6280+13635T>A
c.6289T>A (p.Trp2097Arg)
c.5779T>A (p.Trp1927Arg)
c.4219T>A (p.Trp1407Arg)
c.4210T>A (p.Trp1404Arg)
n.6266+13635T>A
 gnomAD v4
2g.15218788G>ACA424866902NBASc.4403C>T
c.4426+13634C>T
c.928C>T
c.2273C>T
c.6417C>T (p.Ser2139=)
c.512+13634C>T (n.512+13634C>T)
c.3560C>T
n.6280+13634C>T
c.6288C>T (p.Ser2096=)
c.5778C>T (p.Ser1926=)
c.4218C>T (p.Ser1406=)
c.4209C>T (p.Ser1403=)
n.6266+13634C>T
 gnomAD v4
2g.15218788G>CCA424866904NBASc.4403C>G
c.4426+13634C>G
c.928C>G
c.2273C>G
c.6417C>G (p.Ser2139=)
c.512+13634C>G (n.512+13634C>G)
c.3560C>G
n.6280+13634C>G
c.6288C>G (p.Ser2096=)
c.5778C>G (p.Ser1926=)
c.4218C>G (p.Ser1406=)
c.4209C>G (p.Ser1403=)
n.6266+13634C>G
2g.15218788G>TCA424866903NBASc.4403C>A
c.4426+13634C>A
c.928C>A
c.2273C>A
c.6417C>A (p.Ser2139=)
c.512+13634C>A (n.512+13634C>A)
c.3560C>A
n.6280+13634C>A
c.6288C>A (p.Ser2096=)
c.5778C>A (p.Ser1926=)
c.4218C>A (p.Ser1406=)
c.4209C>A (p.Ser1403=)
n.6266+13634C>A
2g.15218789G>ACA1535019NBASc.4402C>T
c.4426+13633C>T
c.927C>T
c.2272C>T
c.6416C>T (p.Ser2139Phe)
c.512+13633C>T (n.512+13633C>T)
c.3559C>T
n.6280+13633C>T
c.6287C>T (p.Ser2096Phe)
c.5777C>T (p.Ser1926Phe)
c.4217C>T (p.Ser1406Phe)
c.4208C>T (p.Ser1403Phe)
n.6266+13633C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218789G>CCA345883764NBASc.4402C>G
c.4426+13633C>G
c.927C>G
c.2272C>G
c.6416C>G (p.Ser2139Cys)
c.512+13633C>G (n.512+13633C>G)
c.3559C>G
n.6280+13633C>G
c.6287C>G (p.Ser2096Cys)
c.5777C>G (p.Ser1926Cys)
c.4217C>G (p.Ser1406Cys)
c.4208C>G (p.Ser1403Cys)
n.6266+13633C>G
2g.15218789G=CA2490796179NBASc.4402C=
c.4426+13633C=
c.927C=
c.2272C=
c.6416C= (p.Ser2139=)
c.512+13633C= (n.512+13633C=)
c.3559C=
n.6280+13633C=
c.6287C= (p.Ser2096=)
c.5777C= (p.Ser1926=)
c.4217C= (p.Ser1406=)
c.4208C= (p.Ser1403=)
n.6266+13633C=
2g.15218789G>TCA345883762NBASc.4402C>A
c.4426+13633C>A
c.927C>A
c.2272C>A
c.6416C>A (p.Ser2139Tyr)
c.512+13633C>A (n.512+13633C>A)
c.3559C>A
n.6280+13633C>A
c.6287C>A (p.Ser2096Tyr)
c.5777C>A (p.Ser1926Tyr)
c.4217C>A (p.Ser1406Tyr)
c.4208C>A (p.Ser1403Tyr)
n.6266+13633C>A
2g.15218790A>CCA345883772NBASc.4401T>G
c.4426+13632T>G
c.926T>G
c.2271T>G
c.6415T>G (p.Ser2139Ala)
c.512+13632T>G (n.512+13632T>G)
c.3558T>G
n.6280+13632T>G
c.6286T>G (p.Ser2096Ala)
c.5776T>G (p.Ser1926Ala)
c.4216T>G (p.Ser1406Ala)
c.4207T>G (p.Ser1403Ala)
n.6266+13632T>G
 gnomAD v4
2g.15218790A>GCA345883774NBASc.4401T>C
c.4426+13632T>C
c.926T>C
c.2271T>C
c.6415T>C (p.Ser2139Pro)
c.512+13632T>C (n.512+13632T>C)
c.3558T>C
n.6280+13632T>C
c.6286T>C (p.Ser2096Pro)
c.5776T>C (p.Ser1926Pro)
c.4216T>C (p.Ser1406Pro)
c.4207T>C (p.Ser1403Pro)
n.6266+13632T>C
2g.15218790A>TCA345883775NBASc.4401T>A
c.4426+13632T>A
c.926T>A
c.2271T>A
c.6415T>A (p.Ser2139Thr)
c.512+13632T>A (n.512+13632T>A)
c.3558T>A
n.6280+13632T>A
c.6286T>A (p.Ser2096Thr)
c.5776T>A (p.Ser1926Thr)
c.4216T>A (p.Ser1406Thr)
c.4207T>A (p.Ser1403Thr)
n.6266+13632T>A
2g.15218791G>ACA424866905NBASc.4400C>T
c.4426+13631C>T
c.925C>T
c.2270C>T
c.6414C>T (p.Ala2138=)
c.512+13631C>T (n.512+13631C>T)
c.3557C>T
n.6280+13631C>T
c.6285C>T (p.Ala2095=)
c.5775C>T (p.Ala1925=)
c.4215C>T (p.Ala1405=)
c.4206C>T (p.Ala1402=)
n.6266+13631C>T
 ClinVar dbSNP gnomAD v4
2g.15218791G>CCA424866906NBASc.4400C>G
c.4426+13631C>G
c.925C>G
c.2270C>G
c.6414C>G (p.Ala2138=)
c.512+13631C>G (n.512+13631C>G)
c.3557C>G
n.6280+13631C>G
c.6285C>G (p.Ala2095=)
c.5775C>G (p.Ala1925=)
c.4215C>G (p.Ala1405=)
c.4206C>G (p.Ala1402=)
n.6266+13631C>G
2g.15218791G=CA2490796180NBASc.4400C=
c.4426+13631C=
c.925C=
c.2270C=
c.6414C= (p.Ala2138=)
c.512+13631C= (n.512+13631C=)
c.3557C=
n.6280+13631C=
c.6285C= (p.Ala2095=)
c.5775C= (p.Ala1925=)
c.4215C= (p.Ala1405=)
c.4206C= (p.Ala1402=)
n.6266+13631C=
2g.15218791G>TCA424866907NBASc.4400C>A
c.4426+13631C>A
c.925C>A
c.2270C>A
c.6414C>A (p.Ala2138=)
c.512+13631C>A (n.512+13631C>A)
c.3557C>A
n.6280+13631C>A
c.6285C>A (p.Ala2095=)
c.5775C>A (p.Ala1925=)
c.4215C>A (p.Ala1405=)
c.4206C>A (p.Ala1402=)
n.6266+13631C>A
2g.15218792G>ACA345883776NBASc.4399C>T
c.4426+13630C>T
c.924C>T
c.2269C>T
c.6413C>T (p.Ala2138Val)
c.512+13630C>T (n.512+13630C>T)
c.3556C>T
n.6280+13630C>T
c.6284C>T (p.Ala2095Val)
c.5774C>T (p.Ala1925Val)
c.4214C>T (p.Ala1405Val)
c.4205C>T (p.Ala1402Val)
n.6266+13630C>T
2g.15218792G>CCA345883777NBASc.4399C>G
c.4426+13630C>G
c.924C>G
c.2269C>G
c.6413C>G (p.Ala2138Gly)
c.512+13630C>G (n.512+13630C>G)
c.3556C>G
n.6280+13630C>G
c.6284C>G (p.Ala2095Gly)
c.5774C>G (p.Ala1925Gly)
c.4214C>G (p.Ala1405Gly)
c.4205C>G (p.Ala1402Gly)
n.6266+13630C>G
2g.15218792G>TCA345883778NBASc.4399C>A
c.4426+13630C>A
c.924C>A
c.2269C>A
c.6413C>A (p.Ala2138Asp)
c.512+13630C>A (n.512+13630C>A)
c.3556C>A
n.6280+13630C>A
c.6284C>A (p.Ala2095Asp)
c.5774C>A (p.Ala1925Asp)
c.4214C>A (p.Ala1405Asp)
c.4205C>A (p.Ala1402Asp)
n.6266+13630C>A
 gnomAD v4 COSMIC
2g.15218793C>ACA345883779NBASc.4398G>T
c.4426+13629G>T
c.923G>T
c.2268G>T
c.6412G>T (p.Ala2138Ser)
c.512+13629G>T (n.512+13629G>T)
c.3555G>T
n.6280+13629G>T
c.6283G>T (p.Ala2095Ser)
c.5773G>T (p.Ala1925Ser)
c.4213G>T (p.Ala1405Ser)
c.4204G>T (p.Ala1402Ser)
n.6266+13629G>T
2g.15218793C>GCA345883780NBASc.4398G>C
c.4426+13629G>C
c.923G>C
c.2268G>C
c.6412G>C (p.Ala2138Pro)
c.512+13629G>C (n.512+13629G>C)
c.3555G>C
n.6280+13629G>C
c.6283G>C (p.Ala2095Pro)
c.5773G>C (p.Ala1925Pro)
c.4213G>C (p.Ala1405Pro)
c.4204G>C (p.Ala1402Pro)
n.6266+13629G>C
2g.15218793C>TCA345883781NBASc.4398G>A
c.4426+13629G>A
c.923G>A
c.2268G>A
c.6412G>A (p.Ala2138Thr)
c.512+13629G>A (n.512+13629G>A)
c.3555G>A
n.6280+13629G>A
c.6283G>A (p.Ala2095Thr)
c.5773G>A (p.Ala1925Thr)
c.4213G>A (p.Ala1405Thr)
c.4204G>A (p.Ala1402Thr)
n.6266+13629G>A
2g.15218794T>ACA345883782NBASc.4397A>T
c.4426+13628A>T
c.922A>T
c.2267A>T
c.6411A>T (p.Lys2137Asn)
c.512+13628A>T (n.512+13628A>T)
c.3554A>T
n.6280+13628A>T
c.6282A>T (p.Lys2094Asn)
c.5772A>T (p.Lys1924Asn)
c.4212A>T (p.Lys1404Asn)
c.4203A>T (p.Lys1401Asn)
n.6266+13628A>T
2g.15218794T>CCA424866908NBASc.4397A>G
c.4426+13628A>G
c.922A>G
c.2267A>G
c.6411A>G (p.Lys2137=)
c.512+13628A>G (n.512+13628A>G)
c.3554A>G
n.6280+13628A>G
c.6282A>G (p.Lys2094=)
c.5772A>G (p.Lys1924=)
c.4212A>G (p.Lys1404=)
c.4203A>G (p.Lys1401=)
n.6266+13628A>G
2g.15218794T>GCA345883783NBASc.4397A>C
c.4426+13628A>C
c.922A>C
c.2267A>C
c.6411A>C (p.Lys2137Asn)
c.512+13628A>C (n.512+13628A>C)
c.3554A>C
n.6280+13628A>C
c.6282A>C (p.Lys2094Asn)
c.5772A>C (p.Lys1924Asn)
c.4212A>C (p.Lys1404Asn)
c.4203A>C (p.Lys1401Asn)
n.6266+13628A>C
2g.15218795T>ACA345883794NBASc.4396A>T
c.4426+13627A>T
c.921A>T
c.2266A>T
c.6410A>T (p.Lys2137Ile)
c.512+13627A>T (n.512+13627A>T)
c.3553A>T
n.6280+13627A>T
c.6281A>T (p.Lys2094Ile)
c.5771A>T (p.Lys1924Ile)
c.4211A>T (p.Lys1404Ile)
c.4202A>T (p.Lys1401Ile)
n.6266+13627A>T
2g.15218795T>CCA345883796NBASc.4396A>G
c.4426+13627A>G
c.921A>G
c.2266A>G
c.6410A>G (p.Lys2137Arg)
c.512+13627A>G (n.512+13627A>G)
c.3553A>G
n.6280+13627A>G
c.6281A>G (p.Lys2094Arg)
c.5771A>G (p.Lys1924Arg)
c.4211A>G (p.Lys1404Arg)
c.4202A>G (p.Lys1401Arg)
n.6266+13627A>G
2g.15218795T>GCA345883791NBASc.4396A>C
c.4426+13627A>C
c.921A>C
c.2266A>C
c.6410A>C (p.Lys2137Thr)
c.512+13627A>C (n.512+13627A>C)
c.3553A>C
n.6280+13627A>C
c.6281A>C (p.Lys2094Thr)
c.5771A>C (p.Lys1924Thr)
c.4211A>C (p.Lys1404Thr)
c.4202A>C (p.Lys1401Thr)
n.6266+13627A>C
2g.15218796T>ACA345883799NBASc.4395A>T
c.4426+13626A>T
c.920A>T
c.2265A>T
c.6409A>T (p.Lys2137Ter)
c.512+13626A>T (n.512+13626A>T)
c.3552A>T
n.6280+13626A>T
c.6280A>T (p.Lys2094Ter)
c.5770A>T (p.Lys1924Ter)
c.4210A>T (p.Lys1404Ter)
c.4201A>T (p.Lys1401Ter)
n.6266+13626A>T
2g.15218796T>CCA345883800NBASc.4395A>G
c.4426+13626A>G
c.920A>G
c.2265A>G
c.6409A>G (p.Lys2137Glu)
c.512+13626A>G (n.512+13626A>G)
c.3552A>G
n.6280+13626A>G
c.6280A>G (p.Lys2094Glu)
c.5770A>G (p.Lys1924Glu)
c.4210A>G (p.Lys1404Glu)
c.4201A>G (p.Lys1401Glu)
n.6266+13626A>G
2g.15218796T>GCA345883801NBASc.4395A>C
c.4426+13626A>C
c.920A>C
c.2265A>C
c.6409A>C (p.Lys2137Gln)
c.512+13626A>C (n.512+13626A>C)
c.3552A>C
n.6280+13626A>C
c.6280A>C (p.Lys2094Gln)
c.5770A>C (p.Lys1924Gln)
c.4210A>C (p.Lys1404Gln)
c.4201A>C (p.Lys1401Gln)
n.6266+13626A>C
2g.15218797G>ACA424866909NBASc.4394C>T
c.4426+13625C>T
c.919C>T
c.2264C>T
c.6408C>T (p.Leu2136=)
c.512+13625C>T (n.512+13625C>T)
c.3551C>T
n.6280+13625C>T
c.6279C>T (p.Leu2093=)
c.5769C>T (p.Leu1923=)
c.4209C>T (p.Leu1403=)
c.4200C>T (p.Leu1400=)
n.6266+13625C>T
 gnomAD v4
2g.15218797G>CCA424866910NBASc.4394C>G
c.4426+13625C>G
c.919C>G
c.2264C>G
c.6408C>G (p.Leu2136=)
c.512+13625C>G (n.512+13625C>G)
c.3551C>G
n.6280+13625C>G
c.6279C>G (p.Leu2093=)
c.5769C>G (p.Leu1923=)
c.4209C>G (p.Leu1403=)
c.4200C>G (p.Leu1400=)
n.6266+13625C>G
2g.15218797G>TCA424866911NBASc.4394C>A
c.4426+13625C>A
c.919C>A
c.2264C>A
c.6408C>A (p.Leu2136=)
c.512+13625C>A (n.512+13625C>A)
c.3551C>A
n.6280+13625C>A
c.6279C>A (p.Leu2093=)
c.5769C>A (p.Leu1923=)
c.4209C>A (p.Leu1403=)
c.4200C>A (p.Leu1400=)
n.6266+13625C>A
2g.15218798A>CCA345883802NBASc.4393T>G
c.4426+13624T>G
c.918T>G
c.2263T>G
c.6407T>G (p.Leu2136Arg)
c.512+13624T>G (n.512+13624T>G)
c.3550T>G
n.6280+13624T>G
c.6278T>G (p.Leu2093Arg)
c.5768T>G (p.Leu1923Arg)
c.4208T>G (p.Leu1403Arg)
c.4199T>G (p.Leu1400Arg)
n.6266+13624T>G
2g.15218798A>GCA345883803NBASc.4393T>C
c.4426+13624T>C
c.918T>C
c.2263T>C
c.6407T>C (p.Leu2136Pro)
c.512+13624T>C (n.512+13624T>C)
c.3550T>C
n.6280+13624T>C
c.6278T>C (p.Leu2093Pro)
c.5768T>C (p.Leu1923Pro)
c.4208T>C (p.Leu1403Pro)
c.4199T>C (p.Leu1400Pro)
n.6266+13624T>C
2g.15218798A>TCA345883804NBASc.4393T>A
c.4426+13624T>A
c.918T>A
c.2263T>A
c.6407T>A (p.Leu2136His)
c.512+13624T>A (n.512+13624T>A)
c.3550T>A
n.6280+13624T>A
c.6278T>A (p.Leu2093His)
c.5768T>A (p.Leu1923His)
c.4208T>A (p.Leu1403His)
c.4199T>A (p.Leu1400His)
n.6266+13624T>A
2g.15218799G>ACA345883805NBASc.4392C>T
c.4426+13623C>T
c.917C>T
c.2262C>T
c.6406C>T (p.Leu2136Phe)
c.512+13623C>T (n.512+13623C>T)
c.3549C>T
n.6280+13623C>T
c.6277C>T (p.Leu2093Phe)
c.5767C>T (p.Leu1923Phe)
c.4207C>T (p.Leu1403Phe)
c.4198C>T (p.Leu1400Phe)
n.6266+13623C>T
2g.15218799G>CCA345883807NBASc.4392C>G
c.4426+13623C>G
c.917C>G
c.2262C>G
c.6406C>G (p.Leu2136Val)
c.512+13623C>G (n.512+13623C>G)
c.3549C>G
n.6280+13623C>G
c.6277C>G (p.Leu2093Val)
c.5767C>G (p.Leu1923Val)
c.4207C>G (p.Leu1403Val)
c.4198C>G (p.Leu1400Val)
n.6266+13623C>G
 gnomAD v4
2g.15218799G>TCA345883806NBASc.4392C>A
c.4426+13623C>A
c.917C>A
c.2262C>A
c.6406C>A (p.Leu2136Ile)
c.512+13623C>A (n.512+13623C>A)
c.3549C>A
n.6280+13623C>A
c.6277C>A (p.Leu2093Ile)
c.5767C>A (p.Leu1923Ile)
c.4207C>A (p.Leu1403Ile)
c.4198C>A (p.Leu1400Ile)
n.6266+13623C>A
2g.15218800A>CCA345883810NBASc.4391T>G
c.4426+13622T>G
c.916T>G
c.2261T>G
c.6405T>G (p.Ile2135Met)
c.512+13622T>G (n.512+13622T>G)
c.3548T>G
n.6280+13622T>G
c.6276T>G (p.Ile2092Met)
c.5766T>G (p.Ile1922Met)
c.4206T>G (p.Ile1402Met)
c.4197T>G (p.Ile1399Met)
n.6266+13622T>G
2g.15218800A>GCA424866913NBASc.4391T>C
c.4426+13622T>C
c.916T>C
c.2261T>C
c.6405T>C (p.Ile2135=)
c.512+13622T>C (n.512+13622T>C)
c.3548T>C
n.6280+13622T>C
c.6276T>C (p.Ile2092=)
c.5766T>C (p.Ile1922=)
c.4206T>C (p.Ile1402=)
c.4197T>C (p.Ile1399=)
n.6266+13622T>C
2g.15218800A>TCA424866912NBASc.4391T>A
c.4426+13622T>A
c.916T>A
c.2261T>A
c.6405T>A (p.Ile2135=)
c.512+13622T>A (n.512+13622T>A)
c.3548T>A
n.6280+13622T>A
c.6276T>A (p.Ile2092=)
c.5766T>A (p.Ile1922=)
c.4206T>A (p.Ile1402=)
c.4197T>A (p.Ile1399=)
n.6266+13622T>A
2g.15218801A>CCA345883813NBASc.4390T>G
c.4426+13621T>G
c.915T>G
c.2260T>G
c.6404T>G (p.Ile2135Ser)
c.512+13621T>G (n.512+13621T>G)
c.3547T>G
n.6280+13621T>G
c.6275T>G (p.Ile2092Ser)
c.5765T>G (p.Ile1922Ser)
c.4205T>G (p.Ile1402Ser)
c.4196T>G (p.Ile1399Ser)
n.6266+13621T>G
2g.15218801A>GCA345883817NBASc.4390T>C
c.4426+13621T>C
c.915T>C
c.2260T>C
c.6404T>C (p.Ile2135Thr)
c.512+13621T>C (n.512+13621T>C)
c.3547T>C
n.6280+13621T>C
c.6275T>C (p.Ile2092Thr)
c.5765T>C (p.Ile1922Thr)
c.4205T>C (p.Ile1402Thr)
c.4196T>C (p.Ile1399Thr)
n.6266+13621T>C
2g.15218801A>TCA345883823NBASc.4390T>A
c.4426+13621T>A
c.915T>A
c.2260T>A
c.6404T>A (p.Ile2135Asn)
c.512+13621T>A (n.512+13621T>A)
c.3547T>A
n.6280+13621T>A
c.6275T>A (p.Ile2092Asn)
c.5765T>A (p.Ile1922Asn)
c.4205T>A (p.Ile1402Asn)
c.4196T>A (p.Ile1399Asn)
n.6266+13621T>A
2g.15218802T>ACA345883828NBASc.4389A>T
c.4426+13620A>T
c.914A>T
c.2259A>T
c.6403A>T (p.Ile2135Phe)
c.512+13620A>T (n.512+13620A>T)
c.3546A>T
n.6280+13620A>T
c.6274A>T (p.Ile2092Phe)
c.5764A>T (p.Ile1922Phe)
c.4204A>T (p.Ile1402Phe)
c.4195A>T (p.Ile1399Phe)
n.6266+13620A>T
 dbSNP gnomAD v2
2g.15218802T>CCA345883836NBASc.4389A>G
c.4426+13620A>G
c.914A>G
c.2259A>G
c.6403A>G (p.Ile2135Val)
c.512+13620A>G (n.512+13620A>G)
c.3546A>G
n.6280+13620A>G
c.6274A>G (p.Ile2092Val)
c.5764A>G (p.Ile1922Val)
c.4204A>G (p.Ile1402Val)
c.4195A>G (p.Ile1399Val)
n.6266+13620A>G
 dbSNP
2g.15218802T>GCA345883835NBASc.4389A>C
c.4426+13620A>C
c.914A>C
c.2259A>C
c.6403A>C (p.Ile2135Leu)
c.512+13620A>C (n.512+13620A>C)
c.3546A>C
n.6280+13620A>C
c.6274A>C (p.Ile2092Leu)
c.5764A>C (p.Ile1922Leu)
c.4204A>C (p.Ile1402Leu)
c.4195A>C (p.Ile1399Leu)
n.6266+13620A>C
2g.15218802T=CA2490796181NBASc.4389A=
c.4426+13620A=
c.914A=
c.2259A=
c.6403A= (p.Ile2135=)
c.512+13620A= (n.512+13620A=)
c.3546A=
n.6280+13620A=
c.6274A= (p.Ile2092=)
c.5764A= (p.Ile1922=)
c.4204A= (p.Ile1402=)
c.4195A= (p.Ile1399=)
n.6266+13620A=
2g.15218803G>ACA424866914NBASc.4388C>T
c.4426+13619C>T
c.913C>T
c.2258C>T
c.6402C>T (p.Ala2134=)
c.512+13619C>T (n.512+13619C>T)
c.3545C>T
n.6280+13619C>T
c.6273C>T (p.Ala2091=)
c.5763C>T (p.Ala1921=)
c.4203C>T (p.Ala1401=)
c.4194C>T (p.Ala1398=)
n.6266+13619C>T
2g.15218803G>CCA424866915NBASc.4388C>G
c.4426+13619C>G
c.913C>G
c.2258C>G
c.6402C>G (p.Ala2134=)
c.512+13619C>G (n.512+13619C>G)
c.3545C>G
n.6280+13619C>G
c.6273C>G (p.Ala2091=)
c.5763C>G (p.Ala1921=)
c.4203C>G (p.Ala1401=)
c.4194C>G (p.Ala1398=)
n.6266+13619C>G
2g.15218803G>TCA424866916NBASc.4388C>A
c.4426+13619C>A
c.913C>A
c.2258C>A
c.6402C>A (p.Ala2134=)
c.512+13619C>A (n.512+13619C>A)
c.3545C>A
n.6280+13619C>A
c.6273C>A (p.Ala2091=)
c.5763C>A (p.Ala1921=)
c.4203C>A (p.Ala1401=)
c.4194C>A (p.Ala1398=)
n.6266+13619C>A
2g.15218804G>ACA345883838NBASc.4387C>T
c.4426+13618C>T
c.912C>T
c.2257C>T
c.6401C>T (p.Ala2134Val)
c.512+13618C>T (n.512+13618C>T)
c.3544C>T
n.6280+13618C>T
c.6272C>T (p.Ala2091Val)
c.5762C>T (p.Ala1921Val)
c.4202C>T (p.Ala1401Val)
c.4193C>T (p.Ala1398Val)
n.6266+13618C>T
 COSMIC
2g.15218804G>CCA345883839NBASc.4387C>G
c.4426+13618C>G
c.912C>G
c.2257C>G
c.6401C>G (p.Ala2134Gly)
c.512+13618C>G (n.512+13618C>G)
c.3544C>G
n.6280+13618C>G
c.6272C>G (p.Ala2091Gly)
c.5762C>G (p.Ala1921Gly)
c.4202C>G (p.Ala1401Gly)
c.4193C>G (p.Ala1398Gly)
n.6266+13618C>G
2g.15218804G>TCA345883840NBASc.4387C>A
c.4426+13618C>A
c.912C>A
c.2257C>A
c.6401C>A (p.Ala2134Asp)
c.512+13618C>A (n.512+13618C>A)
c.3544C>A
n.6280+13618C>A
c.6272C>A (p.Ala2091Asp)
c.5762C>A (p.Ala1921Asp)
c.4202C>A (p.Ala1401Asp)
c.4193C>A (p.Ala1398Asp)
n.6266+13618C>A
2g.15218805C>ACA345883841NBASc.4386G>T
c.4426+13617G>T
c.911G>T
c.2256G>T
c.6400G>T (p.Ala2134Ser)
c.512+13617G>T (n.512+13617G>T)
c.3543G>T
n.6280+13617G>T
c.6271G>T (p.Ala2091Ser)
c.5761G>T (p.Ala1921Ser)
c.4201G>T (p.Ala1401Ser)
c.4192G>T (p.Ala1398Ser)
n.6266+13617G>T
2g.15218805C=CA2490796182NBASc.4386G=
c.4426+13617G=
c.911G=
c.2256G=
c.6400G= (p.Ala2134=)
c.512+13617G= (n.512+13617G=)
c.3543G=
n.6280+13617G=
c.6271G= (p.Ala2091=)
c.5761G= (p.Ala1921=)
c.4201G= (p.Ala1401=)
c.4192G= (p.Ala1398=)
n.6266+13617G=
2g.15218805C>GCA345883842NBASc.4386G>C
c.4426+13617G>C
c.911G>C
c.2256G>C
c.6400G>C (p.Ala2134Pro)
c.512+13617G>C (n.512+13617G>C)
c.3543G>C
n.6280+13617G>C
c.6271G>C (p.Ala2091Pro)
c.5761G>C (p.Ala1921Pro)
c.4201G>C (p.Ala1401Pro)
c.4192G>C (p.Ala1398Pro)
n.6266+13617G>C
2g.15218805C>TCA345883843NBASc.4386G>A
c.4426+13617G>A
c.911G>A
c.2256G>A
c.6400G>A (p.Ala2134Thr)
c.512+13617G>A (n.512+13617G>A)
c.3543G>A
n.6280+13617G>A
c.6271G>A (p.Ala2091Thr)
c.5761G>A (p.Ala1921Thr)
c.4201G>A (p.Ala1401Thr)
c.4192G>A (p.Ala1398Thr)
n.6266+13617G>A
 dbSNP gnomAD v2 gnomAD v4
2g.15218806T>ACA345883844NBASc.4385A>T
c.4426+13616A>T
c.910A>T
c.2255A>T
c.6399A>T (p.Glu2133Asp)
c.512+13616A>T (n.512+13616A>T)
c.3542A>T
n.6280+13616A>T
c.6270A>T (p.Glu2090Asp)
c.5760A>T (p.Glu1920Asp)
c.4200A>T (p.Glu1400Asp)
c.4191A>T (p.Glu1397Asp)
n.6266+13616A>T
2g.15218806T>CCA424866917NBASc.4385A>G
c.4426+13616A>G
c.910A>G
c.2255A>G
c.6399A>G (p.Glu2133=)
c.512+13616A>G (n.512+13616A>G)
c.3542A>G
n.6280+13616A>G
c.6270A>G (p.Glu2090=)
c.5760A>G (p.Glu1920=)
c.4200A>G (p.Glu1400=)
c.4191A>G (p.Glu1397=)
n.6266+13616A>G
2g.15218806T>GCA345883845NBASc.4385A>C
c.4426+13616A>C
c.910A>C
c.2255A>C
c.6399A>C (p.Glu2133Asp)
c.512+13616A>C (n.512+13616A>C)
c.3542A>C
n.6280+13616A>C
c.6270A>C (p.Glu2090Asp)
c.5760A>C (p.Glu1920Asp)
c.4200A>C (p.Glu1400Asp)
c.4191A>C (p.Glu1397Asp)
n.6266+13616A>C
2g.15218807T>ACA345883848NBASc.4384A>T
c.4426+13615A>T
c.909A>T
c.2254A>T
c.6398A>T (p.Glu2133Val)
c.512+13615A>T (n.512+13615A>T)
c.3541A>T
n.6280+13615A>T
c.6269A>T (p.Glu2090Val)
c.5759A>T (p.Glu1920Val)
c.4199A>T (p.Glu1400Val)
c.4190A>T (p.Glu1397Val)
n.6266+13615A>T
2g.15218807T>CCA345883859NBASc.4384A>G
c.4426+13615A>G
c.909A>G
c.2254A>G
c.6398A>G (p.Glu2133Gly)
c.512+13615A>G (n.512+13615A>G)
c.3541A>G
n.6280+13615A>G
c.6269A>G (p.Glu2090Gly)
c.5759A>G (p.Glu1920Gly)
c.4199A>G (p.Glu1400Gly)
c.4190A>G (p.Glu1397Gly)
n.6266+13615A>G
2g.15218807T>GCA42584312NBASc.4384A>C
c.4426+13615A>C
c.909A>C
c.2254A>C
c.6398A>C (p.Glu2133Ala)
c.512+13615A>C (n.512+13615A>C)
c.3541A>C
n.6280+13615A>C
c.6269A>C (p.Glu2090Ala)
c.5759A>C (p.Glu1920Ala)
c.4199A>C (p.Glu1400Ala)
c.4190A>C (p.Glu1397Ala)
n.6266+13615A>C
 dbSNP
2g.15218807T=CA2490796183NBASc.4384A=
c.4426+13615A=
c.909A=
c.2254A=
c.6398A= (p.Glu2133=)
c.512+13615A= (n.512+13615A=)
c.3541A=
n.6280+13615A=
c.6269A= (p.Glu2090=)
c.5759A= (p.Glu1920=)
c.4199A= (p.Glu1400=)
c.4190A= (p.Glu1397=)
n.6266+13615A=
2g.15218808C>ACA345883862NBASc.4383G>T
c.4426+13614G>T
c.908G>T
c.2253G>T
c.6397G>T (p.Glu2133Ter)
c.512+13614G>T (n.512+13614G>T)
c.3540G>T
n.6280+13614G>T
c.6268G>T (p.Glu2090Ter)
c.5758G>T (p.Glu1920Ter)
c.4198G>T (p.Glu1400Ter)
c.4189G>T (p.Glu1397Ter)
n.6266+13614G>T
2g.15218808C=CA2490796184NBASc.4383G=
c.4426+13614G=
c.908G=
c.2253G=
c.6397G= (p.Glu2133=)
c.512+13614G= (n.512+13614G=)
c.3540G=
n.6280+13614G=
c.6268G= (p.Glu2090=)
c.5758G= (p.Glu1920=)
c.4198G= (p.Glu1400=)
c.4189G= (p.Glu1397=)
n.6266+13614G=
2g.15218808C>GCA345883864NBASc.4383G>C
c.4426+13614G>C
c.908G>C
c.2253G>C
c.6397G>C (p.Glu2133Gln)
c.512+13614G>C (n.512+13614G>C)
c.3540G>C
n.6280+13614G>C
c.6268G>C (p.Glu2090Gln)
c.5758G>C (p.Glu1920Gln)
c.4198G>C (p.Glu1400Gln)
c.4189G>C (p.Glu1397Gln)
n.6266+13614G>C
2g.15218808C>TCA42584315NBASc.4383G>A
c.4426+13614G>A
c.908G>A
c.2253G>A
c.6397G>A (p.Glu2133Lys)
c.512+13614G>A (n.512+13614G>A)
c.3540G>A
n.6280+13614G>A
c.6268G>A (p.Glu2090Lys)
c.5758G>A (p.Glu1920Lys)
c.4198G>A (p.Glu1400Lys)
c.4189G>A (p.Glu1397Lys)
n.6266+13614G>A
 dbSNP
2g.15218809A>CCA424866920NBASc.4382T>G
c.4426+13613T>G
c.907T>G
c.2252T>G
c.6396T>G (p.Thr2132=)
c.512+13613T>G (n.512+13613T>G)
c.3539T>G
n.6280+13613T>G
c.6267T>G (p.Thr2089=)
c.5757T>G (p.Thr1919=)
c.4197T>G (p.Thr1399=)
c.4188T>G (p.Thr1396=)
n.6266+13613T>G
 COSMIC
2g.15218809A>GCA424866919NBASc.4382T>C
c.4426+13613T>C
c.907T>C
c.2252T>C
c.6396T>C (p.Thr2132=)
c.512+13613T>C (n.512+13613T>C)
c.3539T>C
n.6280+13613T>C
c.6267T>C (p.Thr2089=)
c.5757T>C (p.Thr1919=)
c.4197T>C (p.Thr1399=)
c.4188T>C (p.Thr1396=)
n.6266+13613T>C
 gnomAD v4
2g.15218809A>TCA424866918NBASc.4382T>A
c.4426+13613T>A
c.907T>A
c.2252T>A
c.6396T>A (p.Thr2132=)
c.512+13613T>A (n.512+13613T>A)
c.3539T>A
n.6280+13613T>A
c.6267T>A (p.Thr2089=)
c.5757T>A (p.Thr1919=)
c.4197T>A (p.Thr1399=)
c.4188T>A (p.Thr1396=)
n.6266+13613T>A
2g.15218810G>ACA345883881NBASc.4381C>T
c.4426+13612C>T
c.906C>T
c.2251C>T
c.6395C>T (p.Thr2132Ile)
c.512+13612C>T (n.512+13612C>T)
c.3538C>T
n.6280+13612C>T
c.6266C>T (p.Thr2089Ile)
c.5756C>T (p.Thr1919Ile)
c.4196C>T (p.Thr1399Ile)
c.4187C>T (p.Thr1396Ile)
n.6266+13612C>T
2g.15218810G>CCA345883865NBASc.4381C>G
c.4426+13612C>G
c.906C>G
c.2251C>G
c.6395C>G (p.Thr2132Ser)
c.512+13612C>G (n.512+13612C>G)
c.3538C>G
n.6280+13612C>G
c.6266C>G (p.Thr2089Ser)
c.5756C>G (p.Thr1919Ser)
c.4196C>G (p.Thr1399Ser)
c.4187C>G (p.Thr1396Ser)
n.6266+13612C>G
2g.15218810G>TCA345883879NBASc.4381C>A
c.4426+13612C>A
c.906C>A
c.2251C>A
c.6395C>A (p.Thr2132Asn)
c.512+13612C>A (n.512+13612C>A)
c.3538C>A
n.6280+13612C>A
c.6266C>A (p.Thr2089Asn)
c.5756C>A (p.Thr1919Asn)
c.4196C>A (p.Thr1399Asn)
c.4187C>A (p.Thr1396Asn)
n.6266+13612C>A
2g.15218811T>ACA345883882NBASc.4380A>T
c.4426+13611A>T
c.905A>T
c.2250A>T
c.6394A>T (p.Thr2132Ser)
c.512+13611A>T (n.512+13611A>T)
c.3537A>T
n.6280+13611A>T
c.6265A>T (p.Thr2089Ser)
c.5755A>T (p.Thr1919Ser)
c.4195A>T (p.Thr1399Ser)
c.4186A>T (p.Thr1396Ser)
n.6266+13611A>T
 dbSNP
2g.15218811T>CCA345883883NBASc.4380A>G
c.4426+13611A>G
c.905A>G
c.2250A>G
c.6394A>G (p.Thr2132Ala)
c.512+13611A>G (n.512+13611A>G)
c.3537A>G
n.6280+13611A>G
c.6265A>G (p.Thr2089Ala)
c.5755A>G (p.Thr1919Ala)
c.4195A>G (p.Thr1399Ala)
c.4186A>G (p.Thr1396Ala)
n.6266+13611A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218811T>GCA345883885NBASc.4380A>C
c.4426+13611A>C
c.905A>C
c.2250A>C
c.6394A>C (p.Thr2132Pro)
c.512+13611A>C (n.512+13611A>C)
c.3537A>C
n.6280+13611A>C
c.6265A>C (p.Thr2089Pro)
c.5755A>C (p.Thr1919Pro)
c.4195A>C (p.Thr1399Pro)
c.4186A>C (p.Thr1396Pro)
n.6266+13611A>C
2g.15218811T=CA2490796185NBASc.4380A=
c.4426+13611A=
c.905A=
c.2250A=
c.6394A= (p.Thr2132=)
c.512+13611A= (n.512+13611A=)
c.3537A=
n.6280+13611A=
c.6265A= (p.Thr2089=)
c.5755A= (p.Thr1919=)
c.4195A= (p.Thr1399=)
c.4186A= (p.Thr1396=)
n.6266+13611A=
2g.15218812T>ACA345883886NBASc.4379A>T
c.4426+13610A>T
c.904A>T
c.2249A>T
c.6393A>T (p.Arg2131Ser)
c.512+13610A>T (n.512+13610A>T)
c.3536A>T
n.6280+13610A>T
c.6264A>T (p.Arg2088Ser)
c.5754A>T (p.Arg1918Ser)
c.4194A>T (p.Arg1398Ser)
c.4185A>T (p.Arg1395Ser)
n.6266+13610A>T
2g.15218812T>CCA424866921NBASc.4379A>G
c.4426+13610A>G
c.904A>G
c.2249A>G
c.6393A>G (p.Arg2131=)
c.512+13610A>G (n.512+13610A>G)
c.3536A>G
n.6280+13610A>G
c.6264A>G (p.Arg2088=)
c.5754A>G (p.Arg1918=)
c.4194A>G (p.Arg1398=)
c.4185A>G (p.Arg1395=)
n.6266+13610A>G
 ClinVar
2g.15218812T>GCA345883888NBASc.4379A>C
c.4426+13610A>C
c.904A>C
c.2249A>C
c.6393A>C (p.Arg2131Ser)
c.512+13610A>C (n.512+13610A>C)
c.3536A>C
n.6280+13610A>C
c.6264A>C (p.Arg2088Ser)
c.5754A>C (p.Arg1918Ser)
c.4194A>C (p.Arg1398Ser)
c.4185A>C (p.Arg1395Ser)
n.6266+13610A>C
2g.15218813C>ACA345883890NBASc.4378G>T
c.4426+13609G>T
c.903G>T
c.2248G>T
c.6392G>T (p.Arg2131Ile)
c.512+13609G>T (n.512+13609G>T)
c.3535G>T
n.6280+13609G>T
c.6263G>T (p.Arg2088Ile)
c.5753G>T (p.Arg1918Ile)
c.4193G>T (p.Arg1398Ile)
c.4184G>T (p.Arg1395Ile)
n.6266+13609G>T
2g.15218813C>GCA345883897NBASc.4378G>C
c.4426+13609G>C
c.903G>C
c.2248G>C
c.6392G>C (p.Arg2131Thr)
c.512+13609G>C (n.512+13609G>C)
c.3535G>C
n.6280+13609G>C
c.6263G>C (p.Arg2088Thr)
c.5753G>C (p.Arg1918Thr)
c.4193G>C (p.Arg1398Thr)
c.4184G>C (p.Arg1395Thr)
n.6266+13609G>C
2g.15218813C>TCA345883892NBASc.4378G>A
c.4426+13609G>A
c.903G>A
c.2248G>A
c.6392G>A (p.Arg2131Lys)
c.512+13609G>A (n.512+13609G>A)
c.3535G>A
n.6280+13609G>A
c.6263G>A (p.Arg2088Lys)
c.5753G>A (p.Arg1918Lys)
c.4193G>A (p.Arg1398Lys)
c.4184G>A (p.Arg1395Lys)
n.6266+13609G>A
2g.15218814T>ACA345883900NBASc.4377A>T
c.4426+13608A>T
c.902A>T
c.2247A>T
c.6391A>T (p.Arg2131Ter)
c.512+13608A>T (n.512+13608A>T)
c.3534A>T
n.6280+13608A>T
c.6262A>T (p.Arg2088Ter)
c.5752A>T (p.Arg1918Ter)
c.4192A>T (p.Arg1398Ter)
c.4183A>T (p.Arg1395Ter)
n.6266+13608A>T
2g.15218814T>CCA345883901NBASc.4377A>G
c.4426+13608A>G
c.902A>G
c.2247A>G
c.6391A>G (p.Arg2131Gly)
c.512+13608A>G (n.512+13608A>G)
c.3534A>G
n.6280+13608A>G
c.6262A>G (p.Arg2088Gly)
c.5752A>G (p.Arg1918Gly)
c.4192A>G (p.Arg1398Gly)
c.4183A>G (p.Arg1395Gly)
n.6266+13608A>G
 dbSNP
2g.15218814T>GCA424866922NBASc.4377A>C
c.4426+13608A>C
c.902A>C
c.2247A>C
c.6391A>C (p.Arg2131=)
c.512+13608A>C (n.512+13608A>C)
c.3534A>C
n.6280+13608A>C
c.6262A>C (p.Arg2088=)
c.5752A>C (p.Arg1918=)
c.4192A>C (p.Arg1398=)
c.4183A>C (p.Arg1395=)
n.6266+13608A>C
 dbSNP gnomAD v2
2g.15218814T=CA2490796186NBASc.4377A=
c.4426+13608A=
c.902A=
c.2247A=
c.6391A= (p.Arg2131=)
c.512+13608A= (n.512+13608A=)
c.3534A=
n.6280+13608A=
c.6262A= (p.Arg2088=)
c.5752A= (p.Arg1918=)
c.4192A= (p.Arg1398=)
c.4183A= (p.Arg1395=)
n.6266+13608A=
2g.15218815A=CA2490796187NBASc.4376T=
c.4426+13607T=
c.901T=
c.2246T=
c.6390T= (p.Phe2130=)
c.512+13607T= (n.512+13607T=)
c.3533T=
n.6280+13607T=
c.6261T= (p.Phe2087=)
c.5751T= (p.Phe1917=)
c.4191T= (p.Phe1397=)
c.4182T= (p.Phe1394=)
n.6266+13607T=
2g.15218815A>CCA1535020NBASc.4376T>G
c.4426+13607T>G
c.901T>G
c.2246T>G
c.6390T>G (p.Phe2130Leu)
c.512+13607T>G (n.512+13607T>G)
c.3533T>G
n.6280+13607T>G
c.6261T>G (p.Phe2087Leu)
c.5751T>G (p.Phe1917Leu)
c.4191T>G (p.Phe1397Leu)
c.4182T>G (p.Phe1394Leu)
n.6266+13607T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218815A>GCA424866923NBASc.4376T>C
c.4426+13607T>C
c.901T>C
c.2246T>C
c.6390T>C (p.Phe2130=)
c.512+13607T>C (n.512+13607T>C)
c.3533T>C
n.6280+13607T>C
c.6261T>C (p.Phe2087=)
c.5751T>C (p.Phe1917=)
c.4191T>C (p.Phe1397=)
c.4182T>C (p.Phe1394=)
n.6266+13607T>C
2g.15218815A>TCA345883903NBASc.4376T>A
c.4426+13607T>A
c.901T>A
c.2246T>A
c.6390T>A (p.Phe2130Leu)
c.512+13607T>A (n.512+13607T>A)
c.3533T>A
n.6280+13607T>A
c.6261T>A (p.Phe2087Leu)
c.5751T>A (p.Phe1917Leu)
c.4191T>A (p.Phe1397Leu)
c.4182T>A (p.Phe1394Leu)
n.6266+13607T>A
 gnomAD v4
2g.15218815_15218821delinsAAAGAACCA2490796188NBASc.4370_4376delinsGTTCTTT
c.4426+13601_4426+13607delinsGTTCTTT
c.895_901delinsGTTCTTT
c.2240_2246delinsGTTCTTT
c.6384_6390delinsGTTCTTT (p.Val2128=)
c.512+13601_512+13607delinsGTTCTTT (n.512+13601_512+13607delinsGTTCTTT)
c.3527_3533delinsGTTCTTT
n.6280+13601_6280+13607delinsGTTCTTT
c.6255_6261delinsGTTCTTT (p.Val2085=)
c.5745_5751delinsGTTCTTT (p.Val1915=)
c.4185_4191delinsGTTCTTT (p.Val1395=)
c.4176_4182delinsGTTCTTT (p.Val1392=)
n.6266+13601_6266+13607delinsGTTCTTT
2g.15218816A=CA2490796190NBASc.4375T=
c.4426+13606T=
c.900T=
c.2245T=
c.6389T= (p.Phe2130=)
c.512+13606T= (n.512+13606T=)
c.3532T=
n.6280+13606T=
c.6260T= (p.Phe2087=)
c.5750T= (p.Phe1917=)
c.4190T= (p.Phe1397=)
c.4181T= (p.Phe1394=)
n.6266+13606T=
2g.15218816A>CCA345883905NBASc.4375T>G
c.4426+13606T>G
c.900T>G
c.2245T>G
c.6389T>G (p.Phe2130Cys)
c.512+13606T>G (n.512+13606T>G)
c.3532T>G
n.6280+13606T>G
c.6260T>G (p.Phe2087Cys)
c.5750T>G (p.Phe1917Cys)
c.4190T>G (p.Phe1397Cys)
c.4181T>G (p.Phe1394Cys)
n.6266+13606T>G
 dbSNP
2g.15218816A>GCA345883913NBASc.4375T>C
c.4426+13606T>C
c.900T>C
c.2245T>C
c.6389T>C (p.Phe2130Ser)
c.512+13606T>C (n.512+13606T>C)
c.3532T>C
n.6280+13606T>C
c.6260T>C (p.Phe2087Ser)
c.5750T>C (p.Phe1917Ser)
c.4190T>C (p.Phe1397Ser)
c.4181T>C (p.Phe1394Ser)
n.6266+13606T>C
2g.15218816A>TCA345883910NBASc.4375T>A
c.4426+13606T>A
c.900T>A
c.2245T>A
c.6389T>A (p.Phe2130Tyr)
c.512+13606T>A (n.512+13606T>A)
c.3532T>A
n.6280+13606T>A
c.6260T>A (p.Phe2087Tyr)
c.5750T>A (p.Phe1917Tyr)
c.4190T>A (p.Phe1397Tyr)
c.4181T>A (p.Phe1394Tyr)
n.6266+13606T>A
2g.15218817_15218822delCA2490796189NBASc.4370_4375del
c.4426+13601_4426+13606del
c.895_900del
c.2240_2245del
c.6384_6389del (p.Phe2129_Phe2130del)
c.512+13601_512+13606del (n.512+13601_512+13606del)
c.3527_3532del
n.6280+13601_6280+13606del
c.6255_6260del (p.Phe2086_Phe2087del)
c.5745_5750del (p.Phe1916_Phe1917del)
c.4185_4190del (p.Phe1396_Phe1397del)
c.4176_4181del (p.Phe1393_Phe1394del)
n.6266+13601_6266+13606del
 dbSNP gnomAD v4
2g.15218817A>CCA345883915NBASc.4374T>G
c.4426+13605T>G
c.899T>G
c.2244T>G
c.6388T>G (p.Phe2130Val)
c.512+13605T>G (n.512+13605T>G)
c.3531T>G
n.6280+13605T>G
c.6259T>G (p.Phe2087Val)
c.5749T>G (p.Phe1917Val)
c.4189T>G (p.Phe1397Val)
c.4180T>G (p.Phe1394Val)
n.6266+13605T>G
2g.15218817A>GCA345883917NBASc.4374T>C
c.4426+13605T>C
c.899T>C
c.2244T>C
c.6388T>C (p.Phe2130Leu)
c.512+13605T>C (n.512+13605T>C)
c.3531T>C
n.6280+13605T>C
c.6259T>C (p.Phe2087Leu)
c.5749T>C (p.Phe1917Leu)
c.4189T>C (p.Phe1397Leu)
c.4180T>C (p.Phe1394Leu)
n.6266+13605T>C
 gnomAD v4
2g.15218817A>TCA345883918NBASc.4374T>A
c.4426+13605T>A
c.899T>A
c.2244T>A
c.6388T>A (p.Phe2130Ile)
c.512+13605T>A (n.512+13605T>A)
c.3531T>A
n.6280+13605T>A
c.6259T>A (p.Phe2087Ile)
c.5749T>A (p.Phe1917Ile)
c.4189T>A (p.Phe1397Ile)
c.4180T>A (p.Phe1394Ile)
n.6266+13605T>A
2g.15218818G>ACA424866924NBASc.4373C>T
c.4426+13604C>T
c.898C>T
c.2243C>T
c.6387C>T (p.Phe2129=)
c.512+13604C>T (n.512+13604C>T)
c.3530C>T
n.6280+13604C>T
c.6258C>T (p.Phe2086=)
c.5748C>T (p.Phe1916=)
c.4188C>T (p.Phe1396=)
c.4179C>T (p.Phe1393=)
n.6266+13604C>T
2g.15218818G>CCA345883920NBASc.4373C>G
c.4426+13604C>G
c.898C>G
c.2243C>G
c.6387C>G (p.Phe2129Leu)
c.512+13604C>G (n.512+13604C>G)
c.3530C>G
n.6280+13604C>G
c.6258C>G (p.Phe2086Leu)
c.5748C>G (p.Phe1916Leu)
c.4188C>G (p.Phe1396Leu)
c.4179C>G (p.Phe1393Leu)
n.6266+13604C>G
2g.15218818G>TCA345883923NBASc.4373C>A
c.4426+13604C>A
c.898C>A
c.2243C>A
c.6387C>A (p.Phe2129Leu)
c.512+13604C>A (n.512+13604C>A)
c.3530C>A
n.6280+13604C>A
c.6258C>A (p.Phe2086Leu)
c.5748C>A (p.Phe1916Leu)
c.4188C>A (p.Phe1396Leu)
c.4179C>A (p.Phe1393Leu)
n.6266+13604C>A
2g.15218819A>CCA345883928NBASc.4372T>G
c.4426+13603T>G
c.897T>G
c.2242T>G
c.6386T>G (p.Phe2129Cys)
c.512+13603T>G (n.512+13603T>G)
c.3529T>G
n.6280+13603T>G
c.6257T>G (p.Phe2086Cys)
c.5747T>G (p.Phe1916Cys)
c.4187T>G (p.Phe1396Cys)
c.4178T>G (p.Phe1393Cys)
n.6266+13603T>G
2g.15218819A>GCA345883930NBASc.4372T>C
c.4426+13603T>C
c.897T>C
c.2242T>C
c.6386T>C (p.Phe2129Ser)
c.512+13603T>C (n.512+13603T>C)
c.3529T>C
n.6280+13603T>C
c.6257T>C (p.Phe2086Ser)
c.5747T>C (p.Phe1916Ser)
c.4187T>C (p.Phe1396Ser)
c.4178T>C (p.Phe1393Ser)
n.6266+13603T>C
2g.15218819A>TCA345883936NBASc.4372T>A
c.4426+13603T>A
c.897T>A
c.2242T>A
c.6386T>A (p.Phe2129Tyr)
c.512+13603T>A (n.512+13603T>A)
c.3529T>A
n.6280+13603T>A
c.6257T>A (p.Phe2086Tyr)
c.5747T>A (p.Phe1916Tyr)
c.4187T>A (p.Phe1396Tyr)
c.4178T>A (p.Phe1393Tyr)
n.6266+13603T>A
2g.15218820A=CA2490796191NBASc.4371T=
c.4426+13602T=
c.896T=
c.2241T=
c.6385T= (p.Phe2129=)
c.512+13602T= (n.512+13602T=)
c.3528T=
n.6280+13602T=
c.6256T= (p.Phe2086=)
c.5746T= (p.Phe1916=)
c.4186T= (p.Phe1396=)
c.4177T= (p.Phe1393=)
n.6266+13602T=
2g.15218820A>CCA345883938NBASc.4371T>G
c.4426+13602T>G
c.896T>G
c.2241T>G
c.6385T>G (p.Phe2129Val)
c.512+13602T>G (n.512+13602T>G)
c.3528T>G
n.6280+13602T>G
c.6256T>G (p.Phe2086Val)
c.5746T>G (p.Phe1916Val)
c.4186T>G (p.Phe1396Val)
c.4177T>G (p.Phe1393Val)
n.6266+13602T>G
2g.15218820A>GCA1535021NBASc.4371T>C
c.4426+13602T>C
c.896T>C
c.2241T>C
c.6385T>C (p.Phe2129Leu)
c.512+13602T>C (n.512+13602T>C)
c.3528T>C
n.6280+13602T>C
c.6256T>C (p.Phe2086Leu)
c.5746T>C (p.Phe1916Leu)
c.4186T>C (p.Phe1396Leu)
c.4177T>C (p.Phe1393Leu)
n.6266+13602T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218820A>TCA345883946NBASc.4371T>A
c.4426+13602T>A
c.896T>A
c.2241T>A
c.6385T>A (p.Phe2129Ile)
c.512+13602T>A (n.512+13602T>A)
c.3528T>A
n.6280+13602T>A
c.6256T>A (p.Phe2086Ile)
c.5746T>A (p.Phe1916Ile)
c.4186T>A (p.Phe1396Ile)
c.4177T>A (p.Phe1393Ile)
n.6266+13602T>A
2g.15218821C>ACA424866925NBASc.4370G>T
c.4426+13601G>T
c.895G>T
c.2240G>T
c.6384G>T (p.Val2128=)
c.512+13601G>T (n.512+13601G>T)
c.3527G>T
n.6280+13601G>T
c.6255G>T (p.Val2085=)
c.5745G>T (p.Val1915=)
c.4185G>T (p.Val1395=)
c.4176G>T (p.Val1392=)
n.6266+13601G>T
2g.15218821C>GCA424866926NBASc.4370G>C
c.4426+13601G>C
c.895G>C
c.2240G>C
c.6384G>C (p.Val2128=)
c.512+13601G>C (n.512+13601G>C)
c.3527G>C
n.6280+13601G>C
c.6255G>C (p.Val2085=)
c.5745G>C (p.Val1915=)
c.4185G>C (p.Val1395=)
c.4176G>C (p.Val1392=)
n.6266+13601G>C
2g.15218821C>TCA424866927NBASc.4370G>A
c.4426+13601G>A
c.895G>A
c.2240G>A
c.6384G>A (p.Val2128=)
c.512+13601G>A (n.512+13601G>A)
c.3527G>A
n.6280+13601G>A
c.6255G>A (p.Val2085=)
c.5745G>A (p.Val1915=)
c.4185G>A (p.Val1395=)
c.4176G>A (p.Val1392=)
n.6266+13601G>A
2g.15218821_15218822insCATGCATATGCATGTTCAAGCTTATGGAAAAATAAAAATAAATTTCGTTGTCA2748957405NBASc.4369_4370insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.4426+13600_4426+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.894_895insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.2239_2240insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.6383_6384insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2128_Phe2129insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (n.512+13600_512+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG)
c.3526_3527insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
n.6280+13600_6280+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
c.6254_6255insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val2085_Phe2086insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.5744_5745insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1915_Phe1916insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.4184_4185insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1395_Phe1396insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
c.4175_4176insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG (p.Val1392_Phe1393insGlnArgAsnLeuPheLeuPhePheHisLysLeuGluHisAlaTyrAlaTrp)
n.6266+13600_6266+13601insACAACGAAATTTATTTTTATTTTTCCATAAGCTTGAACATGCATATGCATG
2g.15218822A>CCA345883964NBASc.4369T>G
c.4426+13600T>G
c.894T>G
c.2239T>G
c.6383T>G (p.Val2128Gly)
c.512+13600T>G (n.512+13600T>G)
c.3526T>G
n.6280+13600T>G
c.6254T>G (p.Val2085Gly)
c.5744T>G (p.Val1915Gly)
c.4184T>G (p.Val1395Gly)
c.4175T>G (p.Val1392Gly)
n.6266+13600T>G
2g.15218822A>GCA345883960NBASc.4369T>C
c.4426+13600T>C
c.894T>C
c.2239T>C
c.6383T>C (p.Val2128Ala)
c.512+13600T>C (n.512+13600T>C)
c.3526T>C
n.6280+13600T>C
c.6254T>C (p.Val2085Ala)
c.5744T>C (p.Val1915Ala)
c.4184T>C (p.Val1395Ala)
c.4175T>C (p.Val1392Ala)
n.6266+13600T>C
2g.15218822A>TCA345883954NBASc.4369T>A
c.4426+13600T>A
c.894T>A
c.2239T>A
c.6383T>A (p.Val2128Glu)
c.512+13600T>A (n.512+13600T>A)
c.3526T>A
n.6280+13600T>A
c.6254T>A (p.Val2085Glu)
c.5744T>A (p.Val1915Glu)
c.4184T>A (p.Val1395Glu)
c.4175T>A (p.Val1392Glu)
n.6266+13600T>A
2g.15218823C>ACA1535022NBASc.4368G>T
c.4426+13599G>T
c.893G>T
c.2238G>T
c.6382G>T (p.Val2128Leu)
c.512+13599G>T (n.512+13599G>T)
c.3525G>T
n.6280+13599G>T
c.6253G>T (p.Val2085Leu)
c.5743G>T (p.Val1915Leu)
c.4183G>T (p.Val1395Leu)
c.4174G>T (p.Val1392Leu)
n.6266+13599G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218823C=CA2490796192NBASc.4368G=
c.4426+13599G=
c.893G=
c.2238G=
c.6382G= (p.Val2128=)
c.512+13599G= (n.512+13599G=)
c.3525G=
n.6280+13599G=
c.6253G= (p.Val2085=)
c.5743G= (p.Val1915=)
c.4183G= (p.Val1395=)
c.4174G= (p.Val1392=)
n.6266+13599G=
2g.15218823C>GCA42584333NBASc.4368G>C
c.4426+13599G>C
c.893G>C
c.2238G>C
c.6382G>C (p.Val2128Leu)
c.512+13599G>C (n.512+13599G>C)
c.3525G>C
n.6280+13599G>C
c.6253G>C (p.Val2085Leu)
c.5743G>C (p.Val1915Leu)
c.4183G>C (p.Val1395Leu)
c.4174G>C (p.Val1392Leu)
n.6266+13599G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218823C>TCA1535023NBASc.4368G>A
c.4426+13599G>A
c.893G>A
c.2238G>A
c.6382G>A (p.Val2128Met)
c.512+13599G>A (n.512+13599G>A)
c.3525G>A
n.6280+13599G>A
c.6253G>A (p.Val2085Met)
c.5743G>A (p.Val1915Met)
c.4183G>A (p.Val1395Met)
c.4174G>A (p.Val1392Met)
n.6266+13599G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.15218823_15218824insATATTCAAGTACTAAATAGCTCA2748957406NBASc.4367_4368insAGCTATTTAGTACTTGAATAT
c.4426+13598_4426+13599insAGCTATTTAGTACTTGAATAT
c.892_893insAGCTATTTAGTACTTGAATAT
c.2237_2238insAGCTATTTAGTACTTGAATAT
c.6381_6382insAGCTATTTAGTACTTGAATAT (p.Leu2127_Val2128insSerTyrLeuValLeuGluTyr)
c.512+13598_512+13599insAGCTATTTAGTACTTGAATAT (n.512+13598_512+13599insAGCTATTTAGTACTTGAATAT)
c.3524_3525insAGCTATTTAGTACTTGAATAT
n.6280+13598_6280+13599insAGCTATTTAGTACTTGAATAT
c.6252_6253insAGCTATTTAGTACTTGAATAT (p.Leu2084_Val2085insSerTyrLeuValLeuGluTyr)
c.5742_5743insAGCTATTTAGTACTTGAATAT (p.Leu1914_Val1915insSerTyrLeuValLeuGluTyr)
c.4182_4183insAGCTATTTAGTACTTGAATAT (p.Leu1394_Val1395insSerTyrLeuValLeuGluTyr)
c.4173_4174insAGCTATTTAGTACTTGAATAT (p.Leu1391_Val1392insSerTyrLeuValLeuGluTyr)
n.6266+13598_6266+13599insAGCTATTTAGTACTTGAATAT
2g.15218824G>ACA1535024NBASc.4367C>T
c.4426+13598C>T
c.892C>T
c.2237C>T
c.6381C>T (p.Leu2127=)
c.512+13598C>T (n.512+13598C>T)
c.3524C>T
n.6280+13598C>T
c.6252C>T (p.Leu2084=)
c.5742C>T (p.Leu1914=)
c.4182C>T (p.Leu1394=)
c.4173C>T (p.Leu1391=)
n.6266+13598C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218824G>CCA424866928NBASc.4367C>G
c.4426+13598C>G
c.892C>G
c.2237C>G
c.6381C>G (p.Leu2127=)
c.512+13598C>G (n.512+13598C>G)
c.3524C>G
n.6280+13598C>G
c.6252C>G (p.Leu2084=)
c.5742C>G (p.Leu1914=)
c.4182C>G (p.Leu1394=)
c.4173C>G (p.Leu1391=)
n.6266+13598C>G
2g.15218824G=CA2490796193NBASc.4367C=
c.4426+13598C=
c.892C=
c.2237C=
c.6381C= (p.Leu2127=)
c.512+13598C= (n.512+13598C=)
c.3524C=
n.6280+13598C=
c.6252C= (p.Leu2084=)
c.5742C= (p.Leu1914=)
c.4182C= (p.Leu1394=)
c.4173C= (p.Leu1391=)
n.6266+13598C=
2g.15218824G>TCA42584345NBASc.4367C>A
c.4426+13598C>A
c.892C>A
c.2237C>A
c.6381C>A (p.Leu2127=)
c.512+13598C>A (n.512+13598C>A)
c.3524C>A
n.6280+13598C>A
c.6252C>A (p.Leu2084=)
c.5742C>A (p.Leu1914=)
c.4182C>A (p.Leu1394=)
c.4173C>A (p.Leu1391=)
n.6266+13598C>A
 dbSNP gnomAD v4
2g.15218825A=CA2490796194NBASc.4366T=
c.4426+13597T=
c.891T=
c.2236T=
c.6380T= (p.Leu2127=)
c.512+13597T= (n.512+13597T=)
c.3523T=
n.6280+13597T=
c.6251T= (p.Leu2084=)
c.5741T= (p.Leu1914=)
c.4181T= (p.Leu1394=)
c.4172T= (p.Leu1391=)
n.6266+13597T=
2g.15218825A>CCA345883983NBASc.4366T>G
c.4426+13597T>G
c.891T>G
c.2236T>G
c.6380T>G (p.Leu2127Arg)
c.512+13597T>G (n.512+13597T>G)
c.3523T>G
n.6280+13597T>G
c.6251T>G (p.Leu2084Arg)
c.5741T>G (p.Leu1914Arg)
c.4181T>G (p.Leu1394Arg)
c.4172T>G (p.Leu1391Arg)
n.6266+13597T>G
2g.15218825A>GCA345883981NBASc.4366T>C
c.4426+13597T>C
c.891T>C
c.2236T>C
c.6380T>C (p.Leu2127Pro)
c.512+13597T>C (n.512+13597T>C)
c.3523T>C
n.6280+13597T>C
c.6251T>C (p.Leu2084Pro)
c.5741T>C (p.Leu1914Pro)
c.4181T>C (p.Leu1394Pro)
c.4172T>C (p.Leu1391Pro)
n.6266+13597T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218825A>TCA345883978NBASc.4366T>A
c.4426+13597T>A
c.891T>A
c.2236T>A
c.6380T>A (p.Leu2127His)
c.512+13597T>A (n.512+13597T>A)
c.3523T>A
n.6280+13597T>A
c.6251T>A (p.Leu2084His)
c.5741T>A (p.Leu1914His)
c.4181T>A (p.Leu1394His)
c.4172T>A (p.Leu1391His)
n.6266+13597T>A
2g.15218825_15218826insTTGATATATATACTCA2748957407NBASc.4365_4366insAGTATATATATCAA
c.4426+13596_4426+13597insAGTATATATATCAA
c.890_891insAGTATATATATCAA
c.2235_2236insAGTATATATATCAA
c.6379_6380insAGTATATATATCAA (p.Leu2127GlnfsTer24)
c.512+13596_512+13597insAGTATATATATCAA (n.512+13596_512+13597insAGTATATATATCAA)
c.3522_3523insAGTATATATATCAA
n.6280+13596_6280+13597insAGTATATATATCAA
c.6250_6251insAGTATATATATCAA (p.Leu2084GlnfsTer24)
c.5740_5741insAGTATATATATCAA (p.Leu1914GlnfsTer24)
c.4180_4181insAGTATATATATCAA (p.Leu1394GlnfsTer24)
c.4171_4172insAGTATATATATCAA (p.Leu1391GlnfsTer24)
n.6266+13596_6266+13597insAGTATATATATCAA
2g.15218826G>ACA345883987NBASc.4365C>T
c.4426+13596C>T
c.890C>T
c.2235C>T
c.6379C>T (p.Leu2127Phe)
c.512+13596C>T (n.512+13596C>T)
c.3522C>T
n.6280+13596C>T
c.6250C>T (p.Leu2084Phe)
c.5740C>T (p.Leu1914Phe)
c.4180C>T (p.Leu1394Phe)
c.4171C>T (p.Leu1391Phe)
n.6266+13596C>T
 dbSNP
2g.15218826G>CCA1535025NBASc.4365C>G
c.4426+13596C>G
c.890C>G
c.2235C>G
c.6379C>G (p.Leu2127Val)
c.512+13596C>G (n.512+13596C>G)
c.3522C>G
n.6280+13596C>G
c.6250C>G (p.Leu2084Val)
c.5740C>G (p.Leu1914Val)
c.4180C>G (p.Leu1394Val)
c.4171C>G (p.Leu1391Val)
n.6266+13596C>G
 dbSNP ExAC gnomAD v2
2g.15218826G=CA2490796195NBASc.4365C=
c.4426+13596C=
c.890C=
c.2235C=
c.6379C= (p.Leu2127=)
c.512+13596C= (n.512+13596C=)
c.3522C=
n.6280+13596C=
c.6250C= (p.Leu2084=)
c.5740C= (p.Leu1914=)
c.4180C= (p.Leu1394=)
c.4171C= (p.Leu1391=)
n.6266+13596C=
2g.15218826G>TCA345883995NBASc.4365C>A
c.4426+13596C>A
c.890C>A
c.2235C>A
c.6379C>A (p.Leu2127Ile)
c.512+13596C>A (n.512+13596C>A)
c.3522C>A
n.6280+13596C>A
c.6250C>A (p.Leu2084Ile)
c.5740C>A (p.Leu1914Ile)
c.4180C>A (p.Leu1394Ile)
c.4171C>A (p.Leu1391Ile)
n.6266+13596C>A
2g.15218827G>ACA42584350NBASc.4364C>T
c.4426+13595C>T
c.889C>T
c.2234C>T
c.6378C>T (p.Leu2126=)
c.512+13595C>T (n.512+13595C>T)
c.3521C>T
n.6280+13595C>T
c.6249C>T (p.Leu2083=)
c.5739C>T (p.Leu1913=)
c.4179C>T (p.Leu1393=)
c.4170C>T (p.Leu1390=)
n.6266+13595C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.15218827G>CCA424866929NBASc.4364C>G
c.4426+13595C>G
c.889C>G
c.2234C>G
c.6378C>G (p.Leu2126=)
c.512+13595C>G (n.512+13595C>G)
c.3521C>G
n.6280+13595C>G
c.6249C>G (p.Leu2083=)
c.5739C>G (p.Leu1913=)
c.4179C>G (p.Leu1393=)
c.4170C>G (p.Leu1390=)
n.6266+13595C>G
2g.15218827G=CA2490796196NBASc.4364C=
c.4426+13595C=
c.889C=
c.2234C=
c.6378C= (p.Leu2126=)
c.512+13595C= (n.512+13595C=)
c.3521C=
n.6280+13595C=
c.6249C= (p.Leu2083=)
c.5739C= (p.Leu1913=)
c.4179C= (p.Leu1393=)
c.4170C= (p.Leu1390=)
n.6266+13595C=
2g.15218827G>TCA424866930NBASc.4364C>A
c.4426+13595C>A
c.889C>A
c.2234C>A
c.6378C>A (p.Leu2126=)
c.512+13595C>A (n.512+13595C>A)
c.3521C>A
n.6280+13595C>A
c.6249C>A (p.Leu2083=)
c.5739C>A (p.Leu1913=)
c.4179C>A (p.Leu1393=)
c.4170C>A (p.Leu1390=)
n.6266+13595C>A
2g.15218828A>CCA345884001NBASc.4363T>G
c.4426+13594T>G
c.888T>G
c.2233T>G
c.6377T>G (p.Leu2126Arg)
c.512+13594T>G (n.512+13594T>G)
c.3520T>G
n.6280+13594T>G
c.6248T>G (p.Leu2083Arg)
c.5738T>G (p.Leu1913Arg)
c.4178T>G (p.Leu1393Arg)
c.4169T>G (p.Leu1390Arg)
n.6266+13594T>G
2g.15218828A>GCA345884009NBASc.4363T>C
c.4426+13594T>C
c.888T>C
c.2233T>C
c.6377T>C (p.Leu2126Pro)
c.512+13594T>C (n.512+13594T>C)
c.3520T>C
n.6280+13594T>C
c.6248T>C (p.Leu2083Pro)
c.5738T>C (p.Leu1913Pro)
c.4178T>C (p.Leu1393Pro)
c.4169T>C (p.Leu1390Pro)
n.6266+13594T>C
2g.15218828A>TCA345884012NBASc.4363T>A
c.4426+13594T>A
c.888T>A
c.2233T>A
c.6377T>A (p.Leu2126His)
c.512+13594T>A (n.512+13594T>A)
c.3520T>A
n.6280+13594T>A
c.6248T>A (p.Leu2083His)
c.5738T>A (p.Leu1913His)
c.4178T>A (p.Leu1393His)
c.4169T>A (p.Leu1390His)
n.6266+13594T>A
2g.15218829G>ACA345884020NBASc.4362C>T
c.4426+13593C>T
c.887C>T
c.2232C>T
c.6376C>T (p.Leu2126Phe)
c.512+13593C>T (n.512+13593C>T)
c.3519C>T
n.6280+13593C>T
c.6247C>T (p.Leu2083Phe)
c.5737C>T (p.Leu1913Phe)
c.4177C>T (p.Leu1393Phe)
c.4168C>T (p.Leu1390Phe)
n.6266+13593C>T
 dbSNP gnomAD v3 gnomAD v4
2g.15218829G>CCA345884028NBASc.4362C>G
c.4426+13593C>G
c.887C>G
c.2232C>G
c.6376C>G (p.Leu2126Val)
c.512+13593C>G (n.512+13593C>G)
c.3519C>G
n.6280+13593C>G
c.6247C>G (p.Leu2083Val)
c.5737C>G (p.Leu1913Val)
c.4177C>G (p.Leu1393Val)
c.4168C>G (p.Leu1390Val)
n.6266+13593C>G
2g.15218829G=CA2490796197NBASc.4362C=
c.4426+13593C=
c.887C=
c.2232C=
c.6376C= (p.Leu2126=)
c.512+13593C= (n.512+13593C=)
c.3519C=
n.6280+13593C=
c.6247C= (p.Leu2083=)
c.5737C= (p.Leu1913=)
c.4177C= (p.Leu1393=)
c.4168C= (p.Leu1390=)
n.6266+13593C=
2g.15218829G>TCA345884026NBASc.4362C>A
c.4426+13593C>A
c.887C>A
c.2232C>A
c.6376C>A (p.Leu2126Ile)
c.512+13593C>A (n.512+13593C>A)
c.3519C>A
n.6280+13593C>A
c.6247C>A (p.Leu2083Ile)
c.5737C>A (p.Leu1913Ile)
c.4177C>A (p.Leu1393Ile)
c.4168C>A (p.Leu1390Ile)
n.6266+13593C>A
2g.15218830C>ACA345884044NBASc.4361G>T
c.4426+13592G>T
c.886G>T
c.2231G>T
c.6375G>T (p.Lys2125Asn)
c.512+13592G>T (n.512+13592G>T)
c.3518G>T
n.6280+13592G>T
c.6246G>T (p.Lys2082Asn)
c.5736G>T (p.Lys1912Asn)
c.4176G>T (p.Lys1392Asn)
c.4167G>T (p.Lys1389Asn)
n.6266+13592G>T
2g.15218830C=CA2490796198NBASc.4361G=
c.4426+13592G=
c.886G=
c.2231G=
c.6375G= (p.Lys2125=)
c.512+13592G= (n.512+13592G=)
c.3518G=
n.6280+13592G=
c.6246G= (p.Lys2082=)
c.5736G= (p.Lys1912=)
c.4176G= (p.Lys1392=)
c.4167G= (p.Lys1389=)
n.6266+13592G=
2g.15218830C>GCA345884046NBASc.4361G>C
c.4426+13592G>C
c.886G>C
c.2231G>C
c.6375G>C (p.Lys2125Asn)
c.512+13592G>C (n.512+13592G>C)
c.3518G>C
n.6280+13592G>C
c.6246G>C (p.Lys2082Asn)
c.5736G>C (p.Lys1912Asn)
c.4176G>C (p.Lys1392Asn)
c.4167G>C (p.Lys1389Asn)
n.6266+13592G>C
2g.15218830C>TCA1535026NBASc.4361G>A
c.4426+13592G>A
c.886G>A
c.2231G>A
c.6375G>A (p.Lys2125=)
c.512+13592G>A (n.512+13592G>A)
c.3518G>A
n.6280+13592G>A
c.6246G>A (p.Lys2082=)
c.5736G>A (p.Lys1912=)
c.4176G>A (p.Lys1392=)
c.4167G>A (p.Lys1389=)
n.6266+13592G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218831T>ACA345884047NBASc.4360A>T
c.4426+13591A>T
c.885A>T
c.2230A>T
c.6374A>T (p.Lys2125Met)
c.512+13591A>T (n.512+13591A>T)
c.3517A>T
n.6280+13591A>T
c.6245A>T (p.Lys2082Met)
c.5735A>T (p.Lys1912Met)
c.4175A>T (p.Lys1392Met)
c.4166A>T (p.Lys1389Met)
n.6266+13591A>T
2g.15218831T>CCA345884057NBASc.4360A>G
c.4426+13591A>G
c.885A>G
c.2230A>G
c.6374A>G (p.Lys2125Arg)
c.512+13591A>G (n.512+13591A>G)
c.3517A>G
n.6280+13591A>G
c.6245A>G (p.Lys2082Arg)
c.5735A>G (p.Lys1912Arg)
c.4175A>G (p.Lys1392Arg)
c.4166A>G (p.Lys1389Arg)
n.6266+13591A>G
 gnomAD v4
2g.15218831T>GCA345884061NBASc.4360A>C
c.4426+13591A>C
c.885A>C
c.2230A>C
c.6374A>C (p.Lys2125Thr)
c.512+13591A>C (n.512+13591A>C)
c.3517A>C
n.6280+13591A>C
c.6245A>C (p.Lys2082Thr)
c.5735A>C (p.Lys1912Thr)
c.4175A>C (p.Lys1392Thr)
c.4166A>C (p.Lys1389Thr)
n.6266+13591A>C
2g.15218832T>ACA345884068NBASc.4359A>T
c.4426+13590A>T
c.884A>T
c.2229A>T
c.6373A>T (p.Lys2125Ter)
c.512+13590A>T (n.512+13590A>T)
c.3516A>T
n.6280+13590A>T
c.6244A>T (p.Lys2082Ter)
c.5734A>T (p.Lys1912Ter)
c.4174A>T (p.Lys1392Ter)
c.4165A>T (p.Lys1389Ter)
n.6266+13590A>T
2g.15218832T>CCA345884077NBASc.4359A>G
c.4426+13590A>G
c.884A>G
c.2229A>G
c.6373A>G (p.Lys2125Glu)
c.512+13590A>G (n.512+13590A>G)
c.3516A>G
n.6280+13590A>G
c.6244A>G (p.Lys2082Glu)
c.5734A>G (p.Lys1912Glu)
c.4174A>G (p.Lys1392Glu)
c.4165A>G (p.Lys1389Glu)
n.6266+13590A>G
2g.15218832T>GCA345884080NBASc.4359A>C
c.4426+13590A>C
c.884A>C
c.2229A>C
c.6373A>C (p.Lys2125Gln)
c.512+13590A>C (n.512+13590A>C)
c.3516A>C
n.6280+13590A>C
c.6244A>C (p.Lys2082Gln)
c.5734A>C (p.Lys1912Gln)
c.4174A>C (p.Lys1392Gln)
c.4165A>C (p.Lys1389Gln)
n.6266+13590A>C
 dbSNP gnomAD v4
2g.15218832T=CA2490796199NBASc.4359A=
c.4426+13590A=
c.884A=
c.2229A=
c.6373A= (p.Lys2125=)
c.512+13590A= (n.512+13590A=)
c.3516A=
n.6280+13590A=
c.6244A= (p.Lys2082=)
c.5734A= (p.Lys1912=)
c.4174A= (p.Lys1392=)
c.4165A= (p.Lys1389=)
n.6266+13590A=
2g.15218833G>ACA424866931NBASc.4358C>T
c.4426+13589C>T
c.883C>T
c.2228C>T
c.6372C>T (p.Ser2124=)
c.512+13589C>T (n.512+13589C>T)
c.3515C>T
n.6280+13589C>T
c.6243C>T (p.Ser2081=)
c.5733C>T (p.Ser1911=)
c.4173C>T (p.Ser1391=)
c.4164C>T (p.Ser1388=)
n.6266+13589C>T
2g.15218833G>CCA345884088NBASc.4358C>G
c.4426+13589C>G
c.883C>G
c.2228C>G
c.6372C>G (p.Ser2124Arg)
c.512+13589C>G (n.512+13589C>G)
c.3515C>G
n.6280+13589C>G
c.6243C>G (p.Ser2081Arg)
c.5733C>G (p.Ser1911Arg)
c.4173C>G (p.Ser1391Arg)
c.4164C>G (p.Ser1388Arg)
n.6266+13589C>G
2g.15218833G>TCA345884089NBASc.4358C>A
c.4426+13589C>A
c.883C>A
c.2228C>A
c.6372C>A (p.Ser2124Arg)
c.512+13589C>A (n.512+13589C>A)
c.3515C>A
n.6280+13589C>A
c.6243C>A (p.Ser2081Arg)
c.5733C>A (p.Ser1911Arg)
c.4173C>A (p.Ser1391Arg)
c.4164C>A (p.Ser1388Arg)
n.6266+13589C>A
2g.15218834C>ACA345884114NBASc.4357G>T
c.4426+13588G>T
c.882G>T
c.2227G>T
c.6371G>T (p.Ser2124Ile)
c.512+13588G>T (n.512+13588G>T)
c.3514G>T
n.6280+13588G>T
c.6242G>T (p.Ser2081Ile)
c.5732G>T (p.Ser1911Ile)
c.4172G>T (p.Ser1391Ile)
c.4163G>T (p.Ser1388Ile)
n.6266+13588G>T
2g.15218834C>GCA345884111NBASc.4357G>C
c.4426+13588G>C
c.882G>C
c.2227G>C
c.6371G>C (p.Ser2124Thr)
c.512+13588G>C (n.512+13588G>C)
c.3514G>C
n.6280+13588G>C
c.6242G>C (p.Ser2081Thr)
c.5732G>C (p.Ser1911Thr)
c.4172G>C (p.Ser1391Thr)
c.4163G>C (p.Ser1388Thr)
n.6266+13588G>C
2g.15218834C>TCA345884094NBASc.4357G>A
c.4426+13588G>A
c.882G>A
c.2227G>A
c.6371G>A (p.Ser2124Asn)
c.512+13588G>A (n.512+13588G>A)
c.3514G>A
n.6280+13588G>A
c.6242G>A (p.Ser2081Asn)
c.5732G>A (p.Ser1911Asn)
c.4172G>A (p.Ser1391Asn)
c.4163G>A (p.Ser1388Asn)
n.6266+13588G>A
2g.15218835T>ACA345884116NBASc.4356A>T
c.4426+13587A>T
c.881A>T
c.2226A>T
c.6370A>T (p.Ser2124Cys)
c.512+13587A>T (n.512+13587A>T)
c.3513A>T
n.6280+13587A>T
c.6241A>T (p.Ser2081Cys)
c.5731A>T (p.Ser1911Cys)
c.4171A>T (p.Ser1391Cys)
c.4162A>T (p.Ser1388Cys)
n.6266+13587A>T
 gnomAD v4
2g.15218835T>CCA345884117NBASc.4356A>G
c.4426+13587A>G
c.881A>G
c.2226A>G
c.6370A>G (p.Ser2124Gly)
c.512+13587A>G (n.512+13587A>G)
c.3513A>G
n.6280+13587A>G
c.6241A>G (p.Ser2081Gly)
c.5731A>G (p.Ser1911Gly)
c.4171A>G (p.Ser1391Gly)
c.4162A>G (p.Ser1388Gly)
n.6266+13587A>G
 dbSNP gnomAD v2 gnomAD v4
2g.15218835T>GCA345884118NBASc.4356A>C
c.4426+13587A>C
c.881A>C
c.2226A>C
c.6370A>C (p.Ser2124Arg)
c.512+13587A>C (n.512+13587A>C)
c.3513A>C
n.6280+13587A>C
c.6241A>C (p.Ser2081Arg)
c.5731A>C (p.Ser1911Arg)
c.4171A>C (p.Ser1391Arg)
c.4162A>C (p.Ser1388Arg)
n.6266+13587A>C
2g.15218835T=CA2490796200NBASc.4356A=
c.4426+13587A=
c.881A=
c.2226A=
c.6370A= (p.Ser2124=)
c.512+13587A= (n.512+13587A=)
c.3513A=
n.6280+13587A=
c.6241A= (p.Ser2081=)
c.5731A= (p.Ser1911=)
c.4171A= (p.Ser1391=)
c.4162A= (p.Ser1388=)
n.6266+13587A=
2g.15218836G>ACA424866932NBASc.4355C>T
c.4426+13586C>T
c.880C>T
c.2225C>T
c.6369C>T (p.Asp2123=)
c.512+13586C>T (n.512+13586C>T)
c.3512C>T
n.6280+13586C>T
c.6240C>T (p.Asp2080=)
c.5730C>T (p.Asp1910=)
c.4170C>T (p.Asp1390=)
c.4161C>T (p.Asp1387=)
n.6266+13586C>T
2g.15218836G>CCA345884119NBASc.4355C>G
c.4426+13586C>G
c.880C>G
c.2225C>G
c.6369C>G (p.Asp2123Glu)
c.512+13586C>G (n.512+13586C>G)
c.3512C>G
n.6280+13586C>G
c.6240C>G (p.Asp2080Glu)
c.5730C>G (p.Asp1910Glu)
c.4170C>G (p.Asp1390Glu)
c.4161C>G (p.Asp1387Glu)
n.6266+13586C>G
2g.15218836G>TCA345884122NBASc.4355C>A
c.4426+13586C>A
c.880C>A
c.2225C>A
c.6369C>A (p.Asp2123Glu)
c.512+13586C>A (n.512+13586C>A)
c.3512C>A
n.6280+13586C>A
c.6240C>A (p.Asp2080Glu)
c.5730C>A (p.Asp1910Glu)
c.4170C>A (p.Asp1390Glu)
c.4161C>A (p.Asp1387Glu)
n.6266+13586C>A
2g.15218836_15218839delinsGTCCCA2490796201NBASc.4352_4355delinsGGAC
c.4426+13583_4426+13586delinsGGAC
c.877_880delinsGGAC
c.2222_2225delinsGGAC
c.6366_6369delinsGGAC (p.Glu2122=)
c.512+13583_512+13586delinsGGAC (n.512+13583_512+13586delinsGGAC)
c.3509_3512delinsGGAC
n.6280+13583_6280+13586delinsGGAC
c.6237_6240delinsGGAC (p.Glu2079=)
c.5727_5730delinsGGAC (p.Glu1909=)
c.4167_4170delinsGGAC (p.Glu1389=)
c.4158_4161delinsGGAC (p.Glu1386=)
n.6266+13583_6266+13586delinsGGAC
2g.15218837T>ACA345884128NBASc.4354A>T
c.4426+13585A>T
c.879A>T
c.2224A>T
c.6368A>T (p.Asp2123Val)
c.512+13585A>T (n.512+13585A>T)
c.3511A>T
n.6280+13585A>T
c.6239A>T (p.Asp2080Val)
c.5729A>T (p.Asp1910Val)
c.4169A>T (p.Asp1390Val)
c.4160A>T (p.Asp1387Val)
n.6266+13585A>T
2g.15218837T>CCA345884131NBASc.4354A>G
c.4426+13585A>G
c.879A>G
c.2224A>G
c.6368A>G (p.Asp2123Gly)
c.512+13585A>G (n.512+13585A>G)
c.3511A>G
n.6280+13585A>G
c.6239A>G (p.Asp2080Gly)
c.5729A>G (p.Asp1910Gly)
c.4169A>G (p.Asp1390Gly)
c.4160A>G (p.Asp1387Gly)
n.6266+13585A>G
 dbSNP gnomAD v3 gnomAD v4
2g.15218837T>GCA345884133NBASc.4354A>C
c.4426+13585A>C
c.879A>C
c.2224A>C
c.6368A>C (p.Asp2123Ala)
c.512+13585A>C (n.512+13585A>C)
c.3511A>C
n.6280+13585A>C
c.6239A>C (p.Asp2080Ala)
c.5729A>C (p.Asp1910Ala)
c.4169A>C (p.Asp1390Ala)
c.4160A>C (p.Asp1387Ala)
n.6266+13585A>C
2g.15218837T=CA2490796202NBASc.4354A=
c.4426+13585A=
c.879A=
c.2224A=
c.6368A= (p.Asp2123=)
c.512+13585A= (n.512+13585A=)
c.3511A=
n.6280+13585A=
c.6239A= (p.Asp2080=)
c.5729A= (p.Asp1910=)
c.4169A= (p.Asp1390=)
c.4160A= (p.Asp1387=)
n.6266+13585A=
2g.15218842_15218844delCA424866933NBASc.4352_4354del
c.4426+13583_4426+13585del
c.877_879del
c.2222_2224del
c.6366_6368del (p.Glu2122del)
c.512+13583_512+13585del (n.512+13583_512+13585del)
c.3509_3511del
n.6280+13583_6280+13585del
c.6237_6239del (p.Glu2079del)
c.5727_5729del (p.Glu1909del)
c.4167_4169del (p.Glu1389del)
c.4158_4160del (p.Glu1386del)
n.6266+13583_6266+13585del
 dbSNP gnomAD v2 gnomAD v4
2g.15218838C>ACA345884138NBASc.4353G>T
c.4426+13584G>T
c.878G>T
c.2223G>T
c.6367G>T (p.Asp2123Tyr)
c.512+13584G>T (n.512+13584G>T)
c.3510G>T
n.6280+13584G>T
c.6238G>T (p.Asp2080Tyr)
c.5728G>T (p.Asp1910Tyr)
c.4168G>T (p.Asp1390Tyr)
c.4159G>T (p.Asp1387Tyr)
n.6266+13584G>T
2g.15218838C>GCA345884152NBASc.4353G>C
c.4426+13584G>C
c.878G>C
c.2223G>C
c.6367G>C (p.Asp2123His)
c.512+13584G>C (n.512+13584G>C)
c.3510G>C
n.6280+13584G>C
c.6238G>C (p.Asp2080His)
c.5728G>C (p.Asp1910His)
c.4168G>C (p.Asp1390His)
c.4159G>C (p.Asp1387His)
n.6266+13584G>C
2g.15218838C>TCA345884157NBASc.4353G>A
c.4426+13584G>A
c.878G>A
c.2223G>A
c.6367G>A (p.Asp2123Asn)
c.512+13584G>A (n.512+13584G>A)
c.3510G>A
n.6280+13584G>A
c.6238G>A (p.Asp2080Asn)
c.5728G>A (p.Asp1910Asn)
c.4168G>A (p.Asp1390Asn)
c.4159G>A (p.Asp1387Asn)
n.6266+13584G>A
 gnomAD v4
2g.15218839C>ACA345884164NBASc.4352G>T
c.4426+13583G>T
c.877G>T
c.2222G>T
c.6366G>T (p.Glu2122Asp)
c.512+13583G>T (n.512+13583G>T)
c.3509G>T
n.6280+13583G>T
c.6237G>T (p.Glu2079Asp)
c.5727G>T (p.Glu1909Asp)
c.4167G>T (p.Glu1389Asp)
c.4158G>T (p.Glu1386Asp)
n.6266+13583G>T
2g.15218839C>GCA345884169NBASc.4352G>C
c.4426+13583G>C
c.877G>C
c.2222G>C
c.6366G>C (p.Glu2122Asp)
c.512+13583G>C (n.512+13583G>C)
c.3509G>C
n.6280+13583G>C
c.6237G>C (p.Glu2079Asp)
c.5727G>C (p.Glu1909Asp)
c.4167G>C (p.Glu1389Asp)
c.4158G>C (p.Glu1386Asp)
n.6266+13583G>C
2g.15218839C>TCA424866934NBASc.4352G>A
c.4426+13583G>A
c.877G>A
c.2222G>A
c.6366G>A (p.Glu2122=)
c.512+13583G>A (n.512+13583G>A)
c.3509G>A
n.6280+13583G>A
c.6237G>A (p.Glu2079=)
c.5727G>A (p.Glu1909=)
c.4167G>A (p.Glu1389=)
c.4158G>A (p.Glu1386=)
n.6266+13583G>A
 gnomAD v4
2g.15218840T>ACA345884183NBASc.4351A>T
c.4426+13582A>T
c.876A>T
c.2221A>T
c.6365A>T (p.Glu2122Val)
c.512+13582A>T (n.512+13582A>T)
c.3508A>T
n.6280+13582A>T
c.6236A>T (p.Glu2079Val)
c.5726A>T (p.Glu1909Val)
c.4166A>T (p.Glu1389Val)
c.4157A>T (p.Glu1386Val)
n.6266+13582A>T
2g.15218840T>CCA345884180NBASc.4351A>G
c.4426+13582A>G
c.876A>G
c.2221A>G
c.6365A>G (p.Glu2122Gly)
c.512+13582A>G (n.512+13582A>G)
c.3508A>G
n.6280+13582A>G
c.6236A>G (p.Glu2079Gly)
c.5726A>G (p.Glu1909Gly)
c.4166A>G (p.Glu1389Gly)
c.4157A>G (p.Glu1386Gly)
n.6266+13582A>G
2g.15218840T>GCA345884175NBASc.4351A>C
c.4426+13582A>C
c.876A>C
c.2221A>C
c.6365A>C (p.Glu2122Ala)
c.512+13582A>C (n.512+13582A>C)
c.3508A>C
n.6280+13582A>C
c.6236A>C (p.Glu2079Ala)
c.5726A>C (p.Glu1909Ala)
c.4166A>C (p.Glu1389Ala)
c.4157A>C (p.Glu1386Ala)
n.6266+13582A>C
2g.15218841C>ACA345884190NBASc.4350G>T
c.4426+13581G>T
c.875G>T
c.2220G>T
c.6364G>T (p.Glu2122Ter)
c.512+13581G>T (n.512+13581G>T)
c.3507G>T
n.6280+13581G>T
c.6235G>T (p.Glu2079Ter)
c.5725G>T (p.Glu1909Ter)
c.4165G>T (p.Glu1389Ter)
c.4156G>T (p.Glu1386Ter)
n.6266+13581G>T
2g.15218841C=CA2490796203NBASc.4350G=
c.4426+13581G=
c.875G=
c.2220G=
c.6364G= (p.Glu2122=)
c.512+13581G= (n.512+13581G=)
c.3507G=
n.6280+13581G=
c.6235G= (p.Glu2079=)
c.5725G= (p.Glu1909=)
c.4165G= (p.Glu1389=)
c.4156G= (p.Glu1386=)
n.6266+13581G=
2g.15218841C>GCA345884191NBASc.4350G>C
c.4426+13581G>C
c.875G>C
c.2220G>C
c.6364G>C (p.Glu2122Gln)
c.512+13581G>C (n.512+13581G>C)
c.3507G>C
n.6280+13581G>C
c.6235G>C (p.Glu2079Gln)
c.5725G>C (p.Glu1909Gln)
c.4165G>C (p.Glu1389Gln)
c.4156G>C (p.Glu1386Gln)
n.6266+13581G>C
2g.15218841C>TCA42584362NBASc.4350G>A
c.4426+13581G>A
c.875G>A
c.2220G>A
c.6364G>A (p.Glu2122Lys)
c.512+13581G>A (n.512+13581G>A)
c.3507G>A
n.6280+13581G>A
c.6235G>A (p.Glu2079Lys)
c.5725G>A (p.Glu1909Lys)
c.4165G>A (p.Glu1389Lys)
c.4156G>A (p.Glu1386Lys)
n.6266+13581G>A
 dbSNP
2g.15218842C>ACA345884203NBASc.4349G>T
c.4426+13580G>T
c.874G>T
c.2219G>T
c.6363G>T (p.Glu2121Asp)
c.512+13580G>T (n.512+13580G>T)
c.3506G>T
n.6280+13580G>T
c.6234G>T (p.Glu2078Asp)
c.5724G>T (p.Glu1908Asp)
c.4164G>T (p.Glu1388Asp)
c.4155G>T (p.Glu1385Asp)
n.6266+13580G>T
 COSMIC
2g.15218842C>GCA345884207NBASc.4349G>C
c.4426+13580G>C
c.874G>C
c.2219G>C
c.6363G>C (p.Glu2121Asp)
c.512+13580G>C (n.512+13580G>C)
c.3506G>C
n.6280+13580G>C
c.6234G>C (p.Glu2078Asp)
c.5724G>C (p.Glu1908Asp)
c.4164G>C (p.Glu1388Asp)
c.4155G>C (p.Glu1385Asp)
n.6266+13580G>C
 gnomAD v4
2g.15218842C>TCA424866935NBASc.4349G>A
c.4426+13580G>A
c.874G>A
c.2219G>A
c.6363G>A (p.Glu2121=)
c.512+13580G>A (n.512+13580G>A)
c.3506G>A
n.6280+13580G>A
c.6234G>A (p.Glu2078=)
c.5724G>A (p.Glu1908=)
c.4164G>A (p.Glu1388=)
c.4155G>A (p.Glu1385=)
n.6266+13580G>A
2g.15218843T>ACA345884215NBASc.4348A>T
c.4426+13579A>T
c.873A>T
c.2218A>T
c.6362A>T (p.Glu2121Val)
c.512+13579A>T (n.512+13579A>T)
c.3505A>T
n.6280+13579A>T
c.6233A>T (p.Glu2078Val)
c.5723A>T (p.Glu1908Val)
c.4163A>T (p.Glu1388Val)
c.4154A>T (p.Glu1385Val)
n.6266+13579A>T
 dbSNP gnomAD v2 gnomAD v4
2g.15218843T>CCA345884224NBASc.4348A>G
c.4426+13579A>G
c.873A>G
c.2218A>G
c.6362A>G (p.Glu2121Gly)
c.512+13579A>G (n.512+13579A>G)
c.3505A>G
n.6280+13579A>G
c.6233A>G (p.Glu2078Gly)
c.5723A>G (p.Glu1908Gly)
c.4163A>G (p.Glu1388Gly)
c.4154A>G (p.Glu1385Gly)
n.6266+13579A>G
2g.15218843T>GCA345884227NBASc.4348A>C
c.4426+13579A>C
c.873A>C
c.2218A>C
c.6362A>C (p.Glu2121Ala)
c.512+13579A>C (n.512+13579A>C)
c.3505A>C
n.6280+13579A>C
c.6233A>C (p.Glu2078Ala)
c.5723A>C (p.Glu1908Ala)
c.4163A>C (p.Glu1388Ala)
c.4154A>C (p.Glu1385Ala)
n.6266+13579A>C
2g.15218843T=CA2490796204NBASc.4348A=
c.4426+13579A=
c.873A=
c.2218A=
c.6362A= (p.Glu2121=)
c.512+13579A= (n.512+13579A=)
c.3505A=
n.6280+13579A=
c.6233A= (p.Glu2078=)
c.5723A= (p.Glu1908=)
c.4163A= (p.Glu1388=)
c.4154A= (p.Glu1385=)
n.6266+13579A=
2g.15218847_15218850delCA2657930724NBASc.4345_4348del
c.4426+13576_4426+13579del
c.870_873del
c.2215_2218del
c.6359_6362del (p.Thr2120ArgfsTer25)
c.512+13576_512+13579del (n.512+13576_512+13579del)
c.3502_3505del
n.6280+13576_6280+13579del
c.6230_6233del (p.Thr2077ArgfsTer25)
c.5720_5723del (p.Thr1907ArgfsTer25)
c.4160_4163del (p.Thr1387ArgfsTer25)
c.4151_4154del (p.Thr1384ArgfsTer25)
n.6266+13576_6266+13579del
 gnomAD v4
2g.15218844C>ACA345884231NBASc.4347G>T
c.4426+13578G>T
c.872G>T
c.2217G>T
c.6361G>T (p.Glu2121Ter)
c.512+13578G>T (n.512+13578G>T)
c.3504G>T
n.6280+13578G>T
c.6232G>T (p.Glu2078Ter)
c.5722G>T (p.Glu1908Ter)
c.4162G>T (p.Glu1388Ter)
c.4153G>T (p.Glu1385Ter)
n.6266+13578G>T
2g.15218844C>GCA345884235NBASc.4347G>C
c.4426+13578G>C
c.872G>C
c.2217G>C
c.6361G>C (p.Glu2121Gln)
c.512+13578G>C (n.512+13578G>C)
c.3504G>C
n.6280+13578G>C
c.6232G>C (p.Glu2078Gln)
c.5722G>C (p.Glu1908Gln)
c.4162G>C (p.Glu1388Gln)
c.4153G>C (p.Glu1385Gln)
n.6266+13578G>C
 COSMIC
2g.15218844C>TCA345884247NBASc.4347G>A
c.4426+13578G>A
c.872G>A
c.2217G>A
c.6361G>A (p.Glu2121Lys)
c.512+13578G>A (n.512+13578G>A)
c.3504G>A
n.6280+13578G>A
c.6232G>A (p.Glu2078Lys)
c.5722G>A (p.Glu1908Lys)
c.4162G>A (p.Glu1388Lys)
c.4153G>A (p.Glu1385Lys)
n.6266+13578G>A
2g.15218845A=CA2490796205NBASc.4346T=
c.4426+13577T=
c.871T=
c.2216T=
c.6360T= (p.Thr2120=)
c.512+13577T= (n.512+13577T=)
c.3503T=
n.6280+13577T=
c.6231T= (p.Thr2077=)
c.5721T= (p.Thr1907=)
c.4161T= (p.Thr1387=)
c.4152T= (p.Thr1384=)
n.6266+13577T=
2g.15218845A>CCA424866936NBASc.4346T>G
c.4426+13577T>G
c.871T>G
c.2216T>G
c.6360T>G (p.Thr2120=)
c.512+13577T>G (n.512+13577T>G)
c.3503T>G
n.6280+13577T>G
c.6231T>G (p.Thr2077=)
c.5721T>G (p.Thr1907=)
c.4161T>G (p.Thr1387=)
c.4152T>G (p.Thr1384=)
n.6266+13577T>G
2g.15218845A>GCA424866937NBASc.4346T>C
c.4426+13577T>C
c.871T>C
c.2216T>C
c.6360T>C (p.Thr2120=)
c.512+13577T>C (n.512+13577T>C)
c.3503T>C
n.6280+13577T>C
c.6231T>C (p.Thr2077=)
c.5721T>C (p.Thr1907=)
c.4161T>C (p.Thr1387=)
c.4152T>C (p.Thr1384=)
n.6266+13577T>C
2g.15218845A>TCA424866938NBASc.4346T>A
c.4426+13577T>A
c.871T>A
c.2216T>A
c.6360T>A (p.Thr2120=)
c.512+13577T>A (n.512+13577T>A)
c.3503T>A
n.6280+13577T>A
c.6231T>A (p.Thr2077=)
c.5721T>A (p.Thr1907=)
c.4161T>A (p.Thr1387=)
c.4152T>A (p.Thr1384=)
n.6266+13577T>A
 dbSNP gnomAD v3 gnomAD v4
2g.15218846G>ACA345884259NBASc.4345C>T
c.4426+13576C>T
c.870C>T
c.2215C>T
c.6359C>T (p.Thr2120Ile)
c.512+13576C>T (n.512+13576C>T)
c.3502C>T
n.6280+13576C>T
c.6230C>T (p.Thr2077Ile)
c.5720C>T (p.Thr1907Ile)
c.4160C>T (p.Thr1387Ile)
c.4151C>T (p.Thr1384Ile)
n.6266+13576C>T
 dbSNP gnomAD v2 gnomAD v4
2g.15218846G>CCA345884267NBASc.4345C>G
c.4426+13576C>G
c.870C>G
c.2215C>G
c.6359C>G (p.Thr2120Ser)
c.512+13576C>G (n.512+13576C>G)
c.3502C>G
n.6280+13576C>G
c.6230C>G (p.Thr2077Ser)
c.5720C>G (p.Thr1907Ser)
c.4160C>G (p.Thr1387Ser)
c.4151C>G (p.Thr1384Ser)
n.6266+13576C>G
2g.15218846G=CA2490796206NBASc.4345C=
c.4426+13576C=
c.870C=
c.2215C=
c.6359C= (p.Thr2120=)
c.512+13576C= (n.512+13576C=)
c.3502C=
n.6280+13576C=
c.6230C= (p.Thr2077=)
c.5720C= (p.Thr1907=)
c.4160C= (p.Thr1387=)
c.4151C= (p.Thr1384=)
n.6266+13576C=
2g.15218846G>TCA345884271NBASc.4345C>A
c.4426+13576C>A
c.870C>A
c.2215C>A
c.6359C>A (p.Thr2120Asn)
c.512+13576C>A (n.512+13576C>A)
c.3502C>A
n.6280+13576C>A
c.6230C>A (p.Thr2077Asn)
c.5720C>A (p.Thr1907Asn)
c.4160C>A (p.Thr1387Asn)
c.4151C>A (p.Thr1384Asn)
n.6266+13576C>A
2g.15218847T>ACA345884285NBASc.4344A>T
c.4426+13575A>T
c.869A>T
c.2214A>T
c.6358A>T (p.Thr2120Ser)
c.512+13575A>T (n.512+13575A>T)
c.3501A>T
n.6280+13575A>T
c.6229A>T (p.Thr2077Ser)
c.5719A>T (p.Thr1907Ser)
c.4159A>T (p.Thr1387Ser)
c.4150A>T (p.Thr1384Ser)
n.6266+13575A>T
2g.15218847T>CCA345884281NBASc.4344A>G
c.4426+13575A>G
c.869A>G
c.2214A>G
c.6358A>G (p.Thr2120Ala)
c.512+13575A>G (n.512+13575A>G)
c.3501A>G
n.6280+13575A>G
c.6229A>G (p.Thr2077Ala)
c.5719A>G (p.Thr1907Ala)
c.4159A>G (p.Thr1387Ala)
c.4150A>G (p.Thr1384Ala)
n.6266+13575A>G
2g.15218847T>GCA345884275NBASc.4344A>C
c.4426+13575A>C
c.869A>C
c.2214A>C
c.6358A>C (p.Thr2120Pro)
c.512+13575A>C (n.512+13575A>C)
c.3501A>C
n.6280+13575A>C
c.6229A>C (p.Thr2077Pro)
c.5719A>C (p.Thr1907Pro)
c.4159A>C (p.Thr1387Pro)
c.4150A>C (p.Thr1384Pro)
n.6266+13575A>C
2g.15218848C>ACA424866939NBASc.4343G>T
c.4426+13574G>T
c.868G>T
c.2213G>T
c.6357G>T (p.Leu2119=)
c.512+13574G>T (n.512+13574G>T)
c.3500G>T
n.6280+13574G>T
c.6228G>T (p.Leu2076=)
c.5718G>T (p.Leu1906=)
c.4158G>T (p.Leu1386=)
c.4149G>T (p.Leu1383=)
n.6266+13574G>T
2g.15218848C=CA2490796207NBASc.4343G=
c.4426+13574G=
c.868G=
c.2213G=
c.6357G= (p.Leu2119=)
c.512+13574G= (n.512+13574G=)
c.3500G=
n.6280+13574G=
c.6228G= (p.Leu2076=)
c.5718G= (p.Leu1906=)
c.4158G= (p.Leu1386=)
c.4149G= (p.Leu1383=)
n.6266+13574G=
2g.15218848C>GCA424866940NBASc.4343G>C
c.4426+13574G>C
c.868G>C
c.2213G>C
c.6357G>C (p.Leu2119=)
c.512+13574G>C (n.512+13574G>C)
c.3500G>C
n.6280+13574G>C
c.6228G>C (p.Leu2076=)
c.5718G>C (p.Leu1906=)
c.4158G>C (p.Leu1386=)
c.4149G>C (p.Leu1383=)
n.6266+13574G>C
 gnomAD v4
2g.15218848C>TCA424866941NBASc.4343G>A
c.4426+13574G>A
c.868G>A
c.2213G>A
c.6357G>A (p.Leu2119=)
c.512+13574G>A (n.512+13574G>A)
c.3500G>A
n.6280+13574G>A
c.6228G>A (p.Leu2076=)
c.5718G>A (p.Leu1906=)
c.4158G>A (p.Leu1386=)
c.4149G>A (p.Leu1383=)
n.6266+13574G>A
 dbSNP
2g.15218849A=CA2490796208NBASc.4342T=
c.4426+13573T=
c.867T=
c.2212T=
c.6356T= (p.Leu2119=)
c.512+13573T= (n.512+13573T=)
c.3499T=
n.6280+13573T=
c.6227T= (p.Leu2076=)
c.5717T= (p.Leu1906=)
c.4157T= (p.Leu1386=)
c.4148T= (p.Leu1383=)
n.6266+13573T=
2g.15218849A>CCA345884290NBASc.4342T>G
c.4426+13573T>G
c.867T>G
c.2212T>G
c.6356T>G (p.Leu2119Arg)
c.512+13573T>G (n.512+13573T>G)
c.3499T>G
n.6280+13573T>G
c.6227T>G (p.Leu2076Arg)
c.5717T>G (p.Leu1906Arg)
c.4157T>G (p.Leu1386Arg)
c.4148T>G (p.Leu1383Arg)
n.6266+13573T>G
 ClinVar dbSNP gnomAD v4
2g.15218849A>GCA345884305NBASc.4342T>C
c.4426+13573T>C
c.867T>C
c.2212T>C
c.6356T>C (p.Leu2119Pro)
c.512+13573T>C (n.512+13573T>C)
c.3499T>C
n.6280+13573T>C
c.6227T>C (p.Leu2076Pro)
c.5717T>C (p.Leu1906Pro)
c.4157T>C (p.Leu1386Pro)
c.4148T>C (p.Leu1383Pro)
n.6266+13573T>C
2g.15218849A>TCA345884297NBASc.4342T>A
c.4426+13573T>A
c.867T>A
c.2212T>A
c.6356T>A (p.Leu2119Gln)
c.512+13573T>A (n.512+13573T>A)
c.3499T>A
n.6280+13573T>A
c.6227T>A (p.Leu2076Gln)
c.5717T>A (p.Leu1906Gln)
c.4157T>A (p.Leu1386Gln)
c.4148T>A (p.Leu1383Gln)
n.6266+13573T>A
2g.15218850G>ACA1535027NBASc.4341C>T
c.4426+13572C>T
c.866C>T
c.2211C>T
c.6355C>T (p.Leu2119=)
c.512+13572C>T (n.512+13572C>T)
c.3498C>T
n.6280+13572C>T
c.6226C>T (p.Leu2076=)
c.5716C>T (p.Leu1906=)
c.4156C>T (p.Leu1386=)
c.4147C>T (p.Leu1383=)
n.6266+13572C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218850G>CCA1535028NBASc.4341C>G
c.4426+13572C>G
c.866C>G
c.2211C>G
c.6355C>G (p.Leu2119Val)
c.512+13572C>G (n.512+13572C>G)
c.3498C>G
n.6280+13572C>G
c.6226C>G (p.Leu2076Val)
c.5716C>G (p.Leu1906Val)
c.4156C>G (p.Leu1386Val)
c.4147C>G (p.Leu1383Val)
n.6266+13572C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.15218850G=CA2490796209NBASc.4341C=
c.4426+13572C=
c.866C=
c.2211C=
c.6355C= (p.Leu2119=)
c.512+13572C= (n.512+13572C=)
c.3498C=
n.6280+13572C=
c.6226C= (p.Leu2076=)
c.5716C= (p.Leu1906=)
c.4156C= (p.Leu1386=)
c.4147C= (p.Leu1383=)
n.6266+13572C=
2g.15218850G>TCA345884310NBASc.4341C>A
c.4426+13572C>A
c.866C>A
c.2211C>A
c.6355C>A (p.Leu2119Met)
c.512+13572C>A (n.512+13572C>A)
c.3498C>A
n.6280+13572C>A
c.6226C>A (p.Leu2076Met)
c.5716C>A (p.Leu1906Met)
c.4156C>A (p.Leu1386Met)
c.4147C>A (p.Leu1383Met)
n.6266+13572C>A
2g.15218851G>ACA1535029NBASc.4340C>T
c.4426+13571C>T
c.865C>T
c.2210C>T
c.6354C>T (p.His2118=)
c.512+13571C>T (n.512+13571C>T)
c.3497C>T
n.6280+13571C>T
c.6225C>T (p.His2075=)
c.5715C>T (p.His1905=)
c.4155C>T (p.His1385=)
c.4146C>T (p.His1382=)
n.6266+13571C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218851G>CCA345884329NBASc.4340C>G
c.4426+13571C>G
c.865C>G
c.2210C>G
c.6354C>G (p.His2118Gln)
c.512+13571C>G (n.512+13571C>G)
c.3497C>G
n.6280+13571C>G
c.6225C>G (p.His2075Gln)
c.5715C>G (p.His1905Gln)
c.4155C>G (p.His1385Gln)
c.4146C>G (p.His1382Gln)
n.6266+13571C>G
2g.15218851G=CA2490796210NBASc.4340C=
c.4426+13571C=
c.865C=
c.2210C=
c.6354C= (p.His2118=)
c.512+13571C= (n.512+13571C=)
c.3497C=
n.6280+13571C=
c.6225C= (p.His2075=)
c.5715C= (p.His1905=)
c.4155C= (p.His1385=)
c.4146C= (p.His1382=)
n.6266+13571C=
2g.15218851G>TCA345884332NBASc.4340C>A
c.4426+13571C>A
c.865C>A
c.2210C>A
c.6354C>A (p.His2118Gln)
c.512+13571C>A (n.512+13571C>A)
c.3497C>A
n.6280+13571C>A
c.6225C>A (p.His2075Gln)
c.5715C>A (p.His1905Gln)
c.4155C>A (p.His1385Gln)
c.4146C>A (p.His1382Gln)
n.6266+13571C>A
2g.15218852T>ACA345884335NBASc.4339A>T
c.4426+13570A>T
c.864A>T
c.2209A>T
c.6353A>T (p.His2118Leu)
c.512+13570A>T (n.512+13570A>T)
c.3496A>T
n.6280+13570A>T
c.6224A>T (p.His2075Leu)
c.5714A>T (p.His1905Leu)
c.4154A>T (p.His1385Leu)
c.4145A>T (p.His1382Leu)
n.6266+13570A>T
2g.15218852T>CCA345884350NBASc.4339A>G
c.4426+13570A>G
c.864A>G
c.2209A>G
c.6353A>G (p.His2118Arg)
c.512+13570A>G (n.512+13570A>G)
c.3496A>G
n.6280+13570A>G
c.6224A>G (p.His2075Arg)
c.5714A>G (p.His1905Arg)
c.4154A>G (p.His1385Arg)
c.4145A>G (p.His1382Arg)
n.6266+13570A>G
2g.15218852T>GCA345884354NBASc.4339A>C
c.4426+13570A>C
c.864A>C
c.2209A>C
c.6353A>C (p.His2118Pro)
c.512+13570A>C (n.512+13570A>C)
c.3496A>C
n.6280+13570A>C
c.6224A>C (p.His2075Pro)
c.5714A>C (p.His1905Pro)
c.4154A>C (p.His1385Pro)
c.4145A>C (p.His1382Pro)
n.6266+13570A>C
2g.15218853G>ACA345884357NBASc.4338C>T
c.4426+13569C>T
c.863C>T
c.2208C>T
c.6352C>T (p.His2118Tyr)
c.512+13569C>T (n.512+13569C>T)
c.3495C>T
n.6280+13569C>T
c.6223C>T (p.His2075Tyr)
c.5713C>T (p.His1905Tyr)
c.4153C>T (p.His1385Tyr)
c.4144C>T (p.His1382Tyr)
n.6266+13569C>T
 ClinVar
2g.15218853G>CCA345884359NBASc.4338C>G
c.4426+13569C>G
c.863C>G
c.2208C>G
c.6352C>G (p.His2118Asp)
c.512+13569C>G (n.512+13569C>G)
c.3495C>G
n.6280+13569C>G
c.6223C>G (p.His2075Asp)
c.5713C>G (p.His1905Asp)
c.4153C>G (p.His1385Asp)
c.4144C>G (p.His1382Asp)
n.6266+13569C>G
2g.15218853G>TCA345884361NBASc.4338C>A
c.4426+13569C>A
c.863C>A
c.2208C>A
c.6352C>A (p.His2118Asn)
c.512+13569C>A (n.512+13569C>A)
c.3495C>A
n.6280+13569C>A
c.6223C>A (p.His2075Asn)
c.5713C>A (p.His1905Asn)
c.4153C>A (p.His1385Asn)
c.4144C>A (p.His1382Asn)
n.6266+13569C>A
2g.15218854A>CCA345884363NBASc.4337T>G
c.4426+13568T>G
c.862T>G
c.2207T>G
c.6351T>G (p.Phe2117Leu)
c.512+13568T>G (n.512+13568T>G)
c.3494T>G
n.6280+13568T>G
c.6222T>G (p.Phe2074Leu)
c.5712T>G (p.Phe1904Leu)
c.4152T>G (p.Phe1384Leu)
c.4143T>G (p.Phe1381Leu)
n.6266+13568T>G
2g.15218854A>GCA424866942NBASc.4337T>C
c.4426+13568T>C
c.862T>C
c.2207T>C
c.6351T>C (p.Phe2117=)
c.512+13568T>C (n.512+13568T>C)
c.3494T>C
n.6280+13568T>C
c.6222T>C (p.Phe2074=)
c.5712T>C (p.Phe1904=)
c.4152T>C (p.Phe1384=)
c.4143T>C (p.Phe1381=)
n.6266+13568T>C
2g.15218854A>TCA345884367NBASc.4337T>A
c.4426+13568T>A
c.862T>A
c.2207T>A
c.6351T>A (p.Phe2117Leu)
c.512+13568T>A (n.512+13568T>A)
c.3494T>A
n.6280+13568T>A
c.6222T>A (p.Phe2074Leu)
c.5712T>A (p.Phe1904Leu)
c.4152T>A (p.Phe1384Leu)
c.4143T>A (p.Phe1381Leu)
n.6266+13568T>A
2g.15218855A=CA2490796211NBASc.4336T=
c.4426+13567T=
c.861T=
c.2206T=
c.6350T= (p.Phe2117=)
c.512+13567T= (n.512+13567T=)
c.3493T=
n.6280+13567T=
c.6221T= (p.Phe2074=)
c.5711T= (p.Phe1904=)
c.4151T= (p.Phe1384=)
c.4142T= (p.Phe1381=)
n.6266+13567T=
2g.15218855A>CCA345884377NBASc.4336T>G
c.4426+13567T>G
c.861T>G
c.2206T>G
c.6350T>G (p.Phe2117Cys)
c.512+13567T>G (n.512+13567T>G)
c.3493T>G
n.6280+13567T>G
c.6221T>G (p.Phe2074Cys)
c.5711T>G (p.Phe1904Cys)
c.4151T>G (p.Phe1384Cys)
c.4142T>G (p.Phe1381Cys)
n.6266+13567T>G
2g.15218855A>GCA345884380NBASc.4336T>C
c.4426+13567T>C
c.861T>C
c.2206T>C
c.6350T>C (p.Phe2117Ser)
c.512+13567T>C (n.512+13567T>C)
c.3493T>C
n.6280+13567T>C
c.6221T>C (p.Phe2074Ser)
c.5711T>C (p.Phe1904Ser)
c.4151T>C (p.Phe1384Ser)
c.4142T>C (p.Phe1381Ser)
n.6266+13567T>C
 dbSNP
2g.15218855A>TCA345884387NBASc.4336T>A
c.4426+13567T>A
c.861T>A
c.2206T>A
c.6350T>A (p.Phe2117Tyr)
c.512+13567T>A (n.512+13567T>A)
c.3493T>A
n.6280+13567T>A
c.6221T>A (p.Phe2074Tyr)
c.5711T>A (p.Phe1904Tyr)
c.4151T>A (p.Phe1384Tyr)
c.4142T>A (p.Phe1381Tyr)
n.6266+13567T>A
2g.15218856A>CCA345884390NBASc.4335T>G
c.4426+13566T>G
c.860T>G
c.2205T>G
c.6349T>G (p.Phe2117Val)
c.512+13566T>G (n.512+13566T>G)
c.3492T>G
n.6280+13566T>G
c.6220T>G (p.Phe2074Val)
c.5710T>G (p.Phe1904Val)
c.4150T>G (p.Phe1384Val)
c.4141T>G (p.Phe1381Val)
n.6266+13566T>G
2g.15218856A>GCA345884393NBASc.4335T>C
c.4426+13566T>C
c.860T>C
c.2205T>C
c.6349T>C (p.Phe2117Leu)
c.512+13566T>C (n.512+13566T>C)
c.3492T>C
n.6280+13566T>C
c.6220T>C (p.Phe2074Leu)
c.5710T>C (p.Phe1904Leu)
c.4150T>C (p.Phe1384Leu)
c.4141T>C (p.Phe1381Leu)
n.6266+13566T>C
2g.15218856A>TCA345884395NBASc.4335T>A
c.4426+13566T>A
c.860T>A
c.2205T>A
c.6349T>A (p.Phe2117Ile)
c.512+13566T>A (n.512+13566T>A)
c.3492T>A
n.6280+13566T>A
c.6220T>A (p.Phe2074Ile)
c.5710T>A (p.Phe1904Ile)
c.4150T>A (p.Phe1384Ile)
c.4141T>A (p.Phe1381Ile)
n.6266+13566T>A
2g.15218857T>ACA424866943NBASc.4334A>T
c.4426+13565A>T
c.859A>T
c.2204A>T
c.6348A>T (p.Ser2116=)
c.512+13565A>T (n.512+13565A>T)
c.3491A>T
n.6280+13565A>T
c.6219A>T (p.Ser2073=)
c.5709A>T (p.Ser1903=)
c.4149A>T (p.Ser1383=)
c.4140A>T (p.Ser1380=)
n.6266+13565A>T
2g.15218857T>CCA424866944NBASc.4334A>G
c.4426+13565A>G
c.859A>G
c.2204A>G
c.6348A>G (p.Ser2116=)
c.512+13565A>G (n.512+13565A>G)
c.3491A>G
n.6280+13565A>G
c.6219A>G (p.Ser2073=)
c.5709A>G (p.Ser1903=)
c.4149A>G (p.Ser1383=)
c.4140A>G (p.Ser1380=)
n.6266+13565A>G
 dbSNP gnomAD v2 gnomAD v4
2g.15218857T>GCA424866945NBASc.4334A>C
c.4426+13565A>C
c.859A>C
c.2204A>C
c.6348A>C (p.Ser2116=)
c.512+13565A>C (n.512+13565A>C)
c.3491A>C
n.6280+13565A>C
c.6219A>C (p.Ser2073=)
c.5709A>C (p.Ser1903=)
c.4149A>C (p.Ser1383=)
c.4140A>C (p.Ser1380=)
n.6266+13565A>C
2g.15218857T=CA2490796212NBASc.4334A=
c.4426+13565A=
c.859A=
c.2204A=
c.6348A= (p.Ser2116=)
c.512+13565A= (n.512+13565A=)
c.3491A=
n.6280+13565A=
c.6219A= (p.Ser2073=)
c.5709A= (p.Ser1903=)
c.4149A= (p.Ser1383=)
c.4140A= (p.Ser1380=)
n.6266+13565A=
2g.15218858G>ACA345884402NBASc.4333C>T
c.4426+13564C>T
c.858C>T
c.2203C>T
c.6347C>T (p.Ser2116Leu)
c.512+13564C>T (n.512+13564C>T)
c.3490C>T
n.6280+13564C>T
c.6218C>T (p.Ser2073Leu)
c.5708C>T (p.Ser1903Leu)
c.4148C>T (p.Ser1383Leu)
c.4139C>T (p.Ser1380Leu)
n.6266+13564C>T
 dbSNP gnomAD v2
2g.15218858G>CCA345884404NBASc.4333C>G
c.4426+13564C>G
c.858C>G
c.2203C>G
c.6347C>G (p.Ser2116Ter)
c.512+13564C>G (n.512+13564C>G)
c.3490C>G
n.6280+13564C>G
c.6218C>G (p.Ser2073Ter)
c.5708C>G (p.Ser1903Ter)
c.4148C>G (p.Ser1383Ter)
c.4139C>G (p.Ser1380Ter)
n.6266+13564C>G
 dbSNP gnomAD v3 gnomAD v4
2g.15218858G=CA2490796213NBASc.4333C=
c.4426+13564C=
c.858C=
c.2203C=
c.6347C= (p.Ser2116=)
c.512+13564C= (n.512+13564C=)
c.3490C=
n.6280+13564C=
c.6218C= (p.Ser2073=)
c.5708C= (p.Ser1903=)
c.4148C= (p.Ser1383=)
c.4139C= (p.Ser1380=)
n.6266+13564C=
2g.15218858G>TCA345884406NBASc.4333C>A
c.4426+13564C>A
c.858C>A
c.2203C>A
c.6347C>A (p.Ser2116Ter)
c.512+13564C>A (n.512+13564C>A)
c.3490C>A
n.6280+13564C>A
c.6218C>A (p.Ser2073Ter)
c.5708C>A (p.Ser1903Ter)
c.4148C>A (p.Ser1383Ter)
c.4139C>A (p.Ser1380Ter)
n.6266+13564C>A
2g.15218859A>CCA345884408NBASc.4332T>G
c.4426+13563T>G
c.857T>G
c.2202T>G
c.6346T>G (p.Ser2116Ala)
c.512+13563T>G (n.512+13563T>G)
c.3489T>G
n.6280+13563T>G
c.6217T>G (p.Ser2073Ala)
c.5707T>G (p.Ser1903Ala)
c.4147T>G (p.Ser1383Ala)
c.4138T>G (p.Ser1380Ala)
n.6266+13563T>G
2g.15218859A>GCA345884410NBASc.4332T>C
c.4426+13563T>C
c.857T>C
c.2202T>C
c.6346T>C (p.Ser2116Pro)
c.512+13563T>C (n.512+13563T>C)
c.3489T>C
n.6280+13563T>C
c.6217T>C (p.Ser2073Pro)
c.5707T>C (p.Ser1903Pro)
c.4147T>C (p.Ser1383Pro)
c.4138T>C (p.Ser1380Pro)
n.6266+13563T>C
2g.15218859A>TCA345884413NBASc.4332T>A
c.4426+13563T>A
c.857T>A
c.2202T>A
c.6346T>A (p.Ser2116Thr)
c.512+13563T>A (n.512+13563T>A)
c.3489T>A
n.6280+13563T>A
c.6217T>A (p.Ser2073Thr)
c.5707T>A (p.Ser1903Thr)
c.4147T>A (p.Ser1383Thr)
c.4138T>A (p.Ser1380Thr)
n.6266+13563T>A
2g.15218860T>ACA345884422NBASc.4331A>T
c.4426+13562A>T
c.856A>T
c.2201A>T
c.6345A>T (p.Gln2115His)
c.512+13562A>T (n.512+13562A>T)
c.3488A>T
n.6280+13562A>T
c.6216A>T (p.Gln2072His)
c.5706A>T (p.Gln1902His)
c.4146A>T (p.Gln1382His)
c.4137A>T (p.Gln1379His)
n.6266+13562A>T
2g.15218860T>CCA1535030NBASc.4331A>G
c.4426+13562A>G
c.856A>G
c.2201A>G
c.6345A>G (p.Gln2115=)
c.512+13562A>G (n.512+13562A>G)
c.3488A>G
n.6280+13562A>G
c.6216A>G (p.Gln2072=)
c.5706A>G (p.Gln1902=)
c.4146A>G (p.Gln1382=)
c.4137A>G (p.Gln1379=)
n.6266+13562A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218860T>GCA345884425NBASc.4331A>C
c.4426+13562A>C
c.856A>C
c.2201A>C
c.6345A>C (p.Gln2115His)
c.512+13562A>C (n.512+13562A>C)
c.3488A>C
n.6280+13562A>C
c.6216A>C (p.Gln2072His)
c.5706A>C (p.Gln1902His)
c.4146A>C (p.Gln1382His)
c.4137A>C (p.Gln1379His)
n.6266+13562A>C
2g.15218860T=CA2490796214NBASc.4331A=
c.4426+13562A=
c.856A=
c.2201A=
c.6345A= (p.Gln2115=)
c.512+13562A= (n.512+13562A=)
c.3488A=
n.6280+13562A=
c.6216A= (p.Gln2072=)
c.5706A= (p.Gln1902=)
c.4146A= (p.Gln1382=)
c.4137A= (p.Gln1379=)
n.6266+13562A=
2g.15218861T>ACA345884435NBASc.4330A>T
c.4426+13561A>T
c.855A>T
c.2200A>T
c.6344A>T (p.Gln2115Leu)
c.512+13561A>T (n.512+13561A>T)
c.3487A>T
n.6280+13561A>T
c.6215A>T (p.Gln2072Leu)
c.5705A>T (p.Gln1902Leu)
c.4145A>T (p.Gln1382Leu)
c.4136A>T (p.Gln1379Leu)
n.6266+13561A>T
2g.15218861T>CCA42584389NBASc.4330A>G
c.4426+13561A>G
c.855A>G
c.2200A>G
c.6344A>G (p.Gln2115Arg)
c.512+13561A>G (n.512+13561A>G)
c.3487A>G
n.6280+13561A>G
c.6215A>G (p.Gln2072Arg)
c.5705A>G (p.Gln1902Arg)
c.4145A>G (p.Gln1382Arg)
c.4136A>G (p.Gln1379Arg)
n.6266+13561A>G
 dbSNP gnomAD v4
2g.15218861T>GCA345884440NBASc.4330A>C
c.4426+13561A>C
c.855A>C
c.2200A>C
c.6344A>C (p.Gln2115Pro)
c.512+13561A>C (n.512+13561A>C)
c.3487A>C
n.6280+13561A>C
c.6215A>C (p.Gln2072Pro)
c.5705A>C (p.Gln1902Pro)
c.4145A>C (p.Gln1382Pro)
c.4136A>C (p.Gln1379Pro)
n.6266+13561A>C
2g.15218861T=CA2490796215NBASc.4330A=
c.4426+13561A=
c.855A=
c.2200A=
c.6344A= (p.Gln2115=)
c.512+13561A= (n.512+13561A=)
c.3487A=
n.6280+13561A=
c.6215A= (p.Gln2072=)
c.5705A= (p.Gln1902=)
c.4145A= (p.Gln1382=)
c.4136A= (p.Gln1379=)
n.6266+13561A=
2g.15218862G>ACA345884441NBASc.4329C>T
c.4426+13560C>T
c.854C>T
c.2199C>T
c.6343C>T (p.Gln2115Ter)
c.512+13560C>T (n.512+13560C>T)
c.3486C>T
n.6280+13560C>T
c.6214C>T (p.Gln2072Ter)
c.5704C>T (p.Gln1902Ter)
c.4144C>T (p.Gln1382Ter)
c.4135C>T (p.Gln1379Ter)
n.6266+13560C>T
2g.15218862G>CCA345884442NBASc.4329C>G
c.4426+13560C>G
c.854C>G
c.2199C>G
c.6343C>G (p.Gln2115Glu)
c.512+13560C>G (n.512+13560C>G)
c.3486C>G
n.6280+13560C>G
c.6214C>G (p.Gln2072Glu)
c.5704C>G (p.Gln1902Glu)
c.4144C>G (p.Gln1382Glu)
c.4135C>G (p.Gln1379Glu)
n.6266+13560C>G
2g.15218862G>TCA345884443NBASc.4329C>A
c.4426+13560C>A
c.854C>A
c.2199C>A
c.6343C>A (p.Gln2115Lys)
c.512+13560C>A (n.512+13560C>A)
c.3486C>A
n.6280+13560C>A
c.6214C>A (p.Gln2072Lys)
c.5704C>A (p.Gln1902Lys)
c.4144C>A (p.Gln1382Lys)
c.4135C>A (p.Gln1379Lys)
n.6266+13560C>A
 COSMIC
2g.15218863C>ACA1535031NBASc.4328G>T
c.4426+13559G>T
c.853G>T
c.2198G>T
c.6342G>T (p.Gly2114=)
c.512+13559G>T (n.512+13559G>T)
c.3485G>T
n.6280+13559G>T
c.6213G>T (p.Gly2071=)
c.5703G>T (p.Gly1901=)
c.4143G>T (p.Gly1381=)
c.4134G>T (p.Gly1378=)
n.6266+13559G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.15218863C=CA2490796216NBASc.4328G=
c.4426+13559G=
c.853G=
c.2198G=
c.6342G= (p.Gly2114=)
c.512+13559G= (n.512+13559G=)
c.3485G=
n.6280+13559G=
c.6213G= (p.Gly2071=)
c.5703G= (p.Gly1901=)
c.4143G= (p.Gly1381=)
c.4134G= (p.Gly1378=)
n.6266+13559G=
2g.15218863C>GCA424866946NBASc.4328G>C
c.4426+13559G>C
c.853G>C
c.2198G>C
c.6342G>C (p.Gly2114=)
c.512+13559G>C (n.512+13559G>C)
c.3485G>C
n.6280+13559G>C
c.6213G>C (p.Gly2071=)
c.5703G>C (p.Gly1901=)
c.4143G>C (p.Gly1381=)
c.4134G>C (p.Gly1378=)
n.6266+13559G>C
2g.15218863C>TCA424866947NBASc.4328G>A
c.4426+13559G>A
c.853G>A
c.2198G>A
c.6342G>A (p.Gly2114=)
c.512+13559G>A (n.512+13559G>A)
c.3485G>A
n.6280+13559G>A
c.6213G>A (p.Gly2071=)
c.5703G>A (p.Gly1901=)
c.4143G>A (p.Gly1381=)
c.4134G>A (p.Gly1378=)
n.6266+13559G>A
 gnomAD v4
2g.15218864C>ACA345884452NBASc.4327G>T
c.4426+13558G>T
c.852G>T
c.2197G>T
c.6341G>T (p.Gly2114Val)
c.512+13558G>T (n.512+13558G>T)
c.3484G>T
n.6280+13558G>T
c.6212G>T (p.Gly2071Val)
c.5702G>T (p.Gly1901Val)
c.4142G>T (p.Gly1381Val)
c.4133G>T (p.Gly1378Val)
n.6266+13558G>T
2g.15218864C>GCA345884455NBASc.4327G>C
c.4426+13558G>C
c.852G>C
c.2197G>C
c.6341G>C (p.Gly2114Ala)
c.512+13558G>C (n.512+13558G>C)
c.3484G>C
n.6280+13558G>C
c.6212G>C (p.Gly2071Ala)
c.5702G>C (p.Gly1901Ala)
c.4142G>C (p.Gly1381Ala)
c.4133G>C (p.Gly1378Ala)
n.6266+13558G>C
2g.15218864C>TCA345884486NBASc.4327G>A
c.4426+13558G>A
c.852G>A
c.2197G>A
c.6341G>A (p.Gly2114Glu)
c.512+13558G>A (n.512+13558G>A)
c.3484G>A
n.6280+13558G>A
c.6212G>A (p.Gly2071Glu)
c.5702G>A (p.Gly1901Glu)
c.4142G>A (p.Gly1381Glu)
c.4133G>A (p.Gly1378Glu)
n.6266+13558G>A
 gnomAD v4
2g.15218865C>ACA345884491NBASc.4326G>T
c.4426+13557G>T
c.851G>T
c.2196G>T
c.6340G>T (p.Gly2114Trp)
c.512+13557G>T (n.512+13557G>T)
c.3483G>T
n.6280+13557G>T
c.6211G>T (p.Gly2071Trp)
c.5701G>T (p.Gly1901Trp)
c.4141G>T (p.Gly1381Trp)
c.4132G>T (p.Gly1378Trp)
n.6266+13557G>T
2g.15218865C=CA2490796217NBASc.4326G=
c.4426+13557G=
c.851G=
c.2196G=
c.6340G= (p.Gly2114=)
c.512+13557G= (n.512+13557G=)
c.3483G=
n.6280+13557G=
c.6211G= (p.Gly2071=)
c.5701G= (p.Gly1901=)
c.4141G= (p.Gly1381=)
c.4132G= (p.Gly1378=)
n.6266+13557G=
2g.15218865C>GCA345884498NBASc.4326G>C
c.4426+13557G>C
c.851G>C
c.2196G>C
c.6340G>C (p.Gly2114Arg)
c.512+13557G>C (n.512+13557G>C)
c.3483G>C
n.6280+13557G>C
c.6211G>C (p.Gly2071Arg)
c.5701G>C (p.Gly1901Arg)
c.4141G>C (p.Gly1381Arg)
c.4132G>C (p.Gly1378Arg)
n.6266+13557G>C
 ClinVar dbSNP gnomAD v2
2g.15218865C>TCA345884507NBASc.4326G>A
c.4426+13557G>A
c.851G>A
c.2196G>A
c.6340G>A (p.Gly2114Arg)
c.512+13557G>A (n.512+13557G>A)
c.3483G>A
n.6280+13557G>A
c.6211G>A (p.Gly2071Arg)
c.5701G>A (p.Gly1901Arg)
c.4141G>A (p.Gly1381Arg)
c.4132G>A (p.Gly1378Arg)
n.6266+13557G>A
 COSMIC

Number of alleles fetched