Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.43122329_43122330delinsTACA1779747212POMKc.505_506delinsTA (p.Tyr169=)
c.*301_*302delinsTA (n.*301_*302delinsTA)
c.223_224delinsTA (p.Tyr75=)
c.*425_*426delinsTA (n.*425_*426delinsTA)
c.463_464delinsTA (p.Tyr155=)
c.*290_*291delinsTA (n.*290_*291delinsTA)
8g.43122330delCA176079948POMKc.506del (p.Tyr169SerfsTer4)
c.*302del (n.*302del)
c.224del (p.Tyr75SerfsTer4)
c.*426del (n.*426del)
c.464del (p.Tyr155SerfsTer4)
c.*291del (n.*291del)
dbSNP
8g.43122330A>CCA371122050POMKc.506A>C (p.Tyr169Ser)
c.*302A>C (n.*302A>C)
c.224A>C (p.Tyr75Ser)
c.*426A>C (n.*426A>C)
c.464A>C (p.Tyr155Ser)
c.*291A>C (n.*291A>C)
8g.43122330A>GCA371122051POMKc.506A>G (p.Tyr169Cys)
c.*302A>G (n.*302A>G)
c.224A>G (p.Tyr75Cys)
c.*426A>G (n.*426A>G)
c.464A>G (p.Tyr155Cys)
c.*291A>G (n.*291A>G)
8g.43122330A>TCA371122052POMKc.506A>T (p.Tyr169Phe)
c.*302A>T (n.*302A>T)
c.224A>T (p.Tyr75Phe)
c.*426A>T (n.*426A>T)
c.464A>T (p.Tyr155Phe)
c.*291A>T (n.*291A>T)
8g.43122331C>ACA371122053POMKc.507C>A (p.Tyr169Ter)
c.*303C>A (n.*303C>A)
c.225C>A (p.Tyr75Ter)
c.*427C>A (n.*427C>A)
c.465C>A (p.Tyr155Ter)
c.*292C>A (n.*292C>A)
8g.43122331C=CA1779747217POMKc.507C= (p.Tyr169=)
c.*303C= (n.*303C=)
c.225C= (p.Tyr75=)
c.*427C= (n.*427C=)
c.465C= (p.Tyr155=)
c.*292C= (n.*292C=)
8g.43122331C>GCA371122054POMKc.507C>G (p.Tyr169Ter)
c.*303C>G (n.*303C>G)
c.225C>G (p.Tyr75Ter)
c.*427C>G (n.*427C>G)
c.465C>G (p.Tyr155Ter)
c.*292C>G (n.*292C>G)
8g.43122331C>TCA460787590POMKc.507C>T (p.Tyr169=)
c.*303C>T (n.*303C>T)
c.225C>T (p.Tyr75=)
c.*427C>T (n.*427C>T)
c.465C>T (p.Tyr155=)
c.*292C>T (n.*292C>T)
dbSNP gnomAD v4
8g.43122332C>ACA371122055POMKc.508C>A (p.Gln170Lys)
c.*304C>A (n.*304C>A)
c.226C>A (p.Gln76Lys)
c.*428C>A (n.*428C>A)
c.466C>A (p.Gln156Lys)
c.*293C>A (n.*293C>A)
8g.43122332C=CA1779747219POMKc.508C= (p.Gln170=)
c.*304C= (n.*304C=)
c.226C= (p.Gln76=)
c.*428C= (n.*428C=)
c.466C= (p.Gln156=)
c.*293C= (n.*293C=)
8g.43122332C>GCA371122056POMKc.508C>G (p.Gln170Glu)
c.*304C>G (n.*304C>G)
c.226C>G (p.Gln76Glu)
c.*428C>G (n.*428C>G)
c.466C>G (p.Gln156Glu)
c.*293C>G (n.*293C>G)
8g.43122332C>TCA371122057POMKc.508C>T (p.Gln170Ter)
c.*304C>T (n.*304C>T)
c.226C>T (p.Gln76Ter)
c.*428C>T (n.*428C>T)
c.466C>T (p.Gln156Ter)
c.*293C>T (n.*293C>T)
dbSNP gnomAD v2 gnomAD v4
8g.43122332_43122333delinsCACA1779747220POMKc.508_509delinsCA (p.Gln170=)
c.*304_*305delinsCA (n.*304_*305delinsCA)
c.226_227delinsCA (p.Gln76=)
c.*428_*429delinsCA (n.*428_*429delinsCA)
c.466_467delinsCA (p.Gln156=)
c.*293_*294delinsCA (n.*293_*294delinsCA)
8g.43122333A>CCA371122059POMKc.509A>C (p.Gln170Pro)
c.*305A>C (n.*305A>C)
c.227A>C (p.Gln76Pro)
c.*429A>C (n.*429A>C)
c.467A>C (p.Gln156Pro)
c.*294A>C (n.*294A>C)
8g.43122333A>GCA371122060POMKc.509A>G (p.Gln170Arg)
c.*305A>G (n.*305A>G)
c.227A>G (p.Gln76Arg)
c.*429A>G (n.*429A>G)
c.467A>G (p.Gln156Arg)
c.*294A>G (n.*294A>G)
8g.43122333A>TCA371122058POMKc.509A>T (p.Gln170Leu)
c.*305A>T (n.*305A>T)
c.227A>T (p.Gln76Leu)
c.*429A>T (n.*429A>T)
c.467A>T (p.Gln156Leu)
c.*294A>T (n.*294A>T)
8g.43122336delCA4736296POMKc.512del (p.Asn171MetfsTer2)
c.*308del (n.*308del)
c.230del (p.Asn77MetfsTer2)
c.*432del (n.*432del)
c.470del (p.Asn157MetfsTer2)
c.*297del (n.*297del)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122334A>CCA371122061POMKc.510A>C (p.Gln170His)
c.*306A>C (n.*306A>C)
c.228A>C (p.Gln76His)
c.*430A>C (n.*430A>C)
c.468A>C (p.Gln156His)
c.*295A>C (n.*295A>C)
8g.43122334A>GCA460787593POMKc.510A>G (p.Gln170=)
c.*306A>G (n.*306A>G)
c.228A>G (p.Gln76=)
c.*430A>G (n.*430A>G)
c.468A>G (p.Gln156=)
c.*295A>G (n.*295A>G)
gnomAD v4
8g.43122334A>TCA371122062POMKc.510A>T (p.Gln170His)
c.*306A>T (n.*306A>T)
c.228A>T (p.Gln76His)
c.*430A>T (n.*430A>T)
c.468A>T (p.Gln156His)
c.*295A>T (n.*295A>T)
8g.43122335A>CCA371122063POMKc.511A>C (p.Asn171His)
c.*307A>C (n.*307A>C)
c.229A>C (p.Asn77His)
c.*431A>C (n.*431A>C)
c.469A>C (p.Asn157His)
c.*296A>C (n.*296A>C)
8g.43122335A>GCA371122064POMKc.511A>G (p.Asn171Asp)
c.*307A>G (n.*307A>G)
c.229A>G (p.Asn77Asp)
c.*431A>G (n.*431A>G)
c.469A>G (p.Asn157Asp)
c.*296A>G (n.*296A>G)
gnomAD v4
8g.43122335A>TCA371122065POMKc.511A>T (p.Asn171Tyr)
c.*307A>T (n.*307A>T)
c.229A>T (p.Asn77Tyr)
c.*431A>T (n.*431A>T)
c.469A>T (p.Asn157Tyr)
c.*296A>T (n.*296A>T)
gnomAD v4
8g.43122336A>CCA371122068POMKc.512A>C (p.Asn171Thr)
c.*308A>C (n.*308A>C)
c.230A>C (p.Asn77Thr)
c.*432A>C (n.*432A>C)
c.470A>C (p.Asn157Thr)
c.*297A>C (n.*297A>C)
8g.43122336A>GCA371122066POMKc.512A>G (p.Asn171Ser)
c.*308A>G (n.*308A>G)
c.230A>G (p.Asn77Ser)
c.*432A>G (n.*432A>G)
c.470A>G (p.Asn157Ser)
c.*297A>G (n.*297A>G)
8g.43122336A>TCA371122067POMKc.512A>T (p.Asn171Ile)
c.*308A>T (n.*308A>T)
c.230A>T (p.Asn77Ile)
c.*432A>T (n.*432A>T)
c.470A>T (p.Asn157Ile)
c.*297A>T (n.*297A>T)
8g.43122336_43122338delinsATGCA1779747225POMKc.512_514delinsATG (p.Asn171=)
c.*308_*310delinsATG (n.*308_*310delinsATG)
c.230_232delinsATG (p.Asn77=)
c.*432_*434delinsATG (n.*432_*434delinsATG)
c.470_472delinsATG (p.Asn157=)
c.*297_*299delinsATG (n.*297_*299delinsATG)
8g.43122337T>ACA371122069POMKc.513T>A (p.Asn171Lys)
c.*309T>A (n.*309T>A)
c.231T>A (p.Asn77Lys)
c.*433T>A (n.*433T>A)
c.471T>A (p.Asn157Lys)
c.*298T>A (n.*298T>A)
8g.43122337T>CCA460787595POMKc.513T>C (p.Asn171=)
c.*309T>C (n.*309T>C)
c.231T>C (p.Asn77=)
c.*433T>C (n.*433T>C)
c.471T>C (p.Asn157=)
c.*298T>C (n.*298T>C)
gnomAD v4
8g.43122337T>GCA371122070POMKc.513T>G (p.Asn171Lys)
c.*309T>G (n.*309T>G)
c.231T>G (p.Asn77Lys)
c.*433T>G (n.*433T>G)
c.471T>G (p.Asn157Lys)
c.*298T>G (n.*298T>G)
8g.43122339_43122340delCA1779747227POMKc.515_516del (p.Val172GlufsTer18)
c.*311_*312del (n.*311_*312del)
c.233_234del (p.Val78GlufsTer18)
c.*435_*436del (n.*435_*436del)
c.473_474del (p.Val158GlufsTer18)
c.*300_*301del (n.*300_*301del)
dbSNP
8g.43122338G>ACA371122071POMKc.514G>A (p.Val172Met)
c.*310G>A (n.*310G>A)
c.232G>A (p.Val78Met)
c.*434G>A (n.*434G>A)
c.472G>A (p.Val158Met)
c.*299G>A (n.*299G>A)
8g.43122338G>CCA371122072POMKc.514G>C (p.Val172Leu)
c.*310G>C (n.*310G>C)
c.232G>C (p.Val78Leu)
c.*434G>C (n.*434G>C)
c.472G>C (p.Val158Leu)
c.*299G>C (n.*299G>C)
8g.43122338G>TCA371122073POMKc.514G>T (p.Val172Leu)
c.*310G>T (n.*310G>T)
c.232G>T (p.Val78Leu)
c.*434G>T (n.*434G>T)
c.472G>T (p.Val158Leu)
c.*299G>T (n.*299G>T)
8g.43122339T>ACA371122076POMKc.515T>A (p.Val172Glu)
c.*311T>A (n.*311T>A)
c.233T>A (p.Val78Glu)
c.*435T>A (n.*435T>A)
c.473T>A (p.Val158Glu)
c.*300T>A (n.*300T>A)
8g.43122339T>CCA371122074POMKc.515T>C (p.Val172Ala)
c.*311T>C (n.*311T>C)
c.233T>C (p.Val78Ala)
c.*435T>C (n.*435T>C)
c.473T>C (p.Val158Ala)
c.*300T>C (n.*300T>C)
8g.43122339T>GCA371122075POMKc.515T>G (p.Val172Gly)
c.*311T>G (n.*311T>G)
c.233T>G (p.Val78Gly)
c.*435T>G (n.*435T>G)
c.473T>G (p.Val158Gly)
c.*300T>G (n.*300T>G)
8g.43122340G>ACA460787600POMKc.516G>A (p.Val172=)
c.*312G>A (n.*312G>A)
c.234G>A (p.Val78=)
c.*436G>A (n.*436G>A)
c.474G>A (p.Val158=)
c.*301G>A (n.*301G>A)
8g.43122340G>CCA460787601POMKc.516G>C (p.Val172=)
c.*312G>C (n.*312G>C)
c.234G>C (p.Val78=)
c.*436G>C (n.*436G>C)
c.474G>C (p.Val158=)
c.*301G>C (n.*301G>C)
8g.43122340G>TCA460787602POMKc.516G>T (p.Val172=)
c.*312G>T (n.*312G>T)
c.234G>T (p.Val78=)
c.*436G>T (n.*436G>T)
c.474G>T (p.Val158=)
c.*301G>T (n.*301G>T)
8g.43122341A=CA1779747230POMKc.517A= (p.Asn173=)
c.*313A= (n.*313A=)
c.235A= (p.Asn79=)
c.*437A= (n.*437A=)
c.475A= (p.Asn159=)
c.*302A= (n.*302A=)
8g.43122341A>CCA371122077POMKc.517A>C (p.Asn173His)
c.*313A>C (n.*313A>C)
c.235A>C (p.Asn79His)
c.*437A>C (n.*437A>C)
c.475A>C (p.Asn159His)
c.*302A>C (n.*302A>C)
8g.43122341A>GCA371122079POMKc.517A>G (p.Asn173Asp)
c.*313A>G (n.*313A>G)
c.235A>G (p.Asn79Asp)
c.*437A>G (n.*437A>G)
c.475A>G (p.Asn159Asp)
c.*302A>G (n.*302A>G)
8g.43122341A>TCA371122078POMKc.517A>T (p.Asn173Tyr)
c.*313A>T (n.*313A>T)
c.235A>T (p.Asn79Tyr)
c.*437A>T (n.*437A>T)
c.475A>T (p.Asn159Tyr)
c.*302A>T (n.*302A>T)
dbSNP
8g.43122342A>CCA371122080POMKc.518A>C (p.Asn173Thr)
c.*314A>C (n.*314A>C)
c.236A>C (p.Asn79Thr)
c.*438A>C (n.*438A>C)
c.476A>C (p.Asn159Thr)
c.*303A>C (n.*303A>C)
8g.43122342A>GCA371122081POMKc.518A>G (p.Asn173Ser)
c.*314A>G (n.*314A>G)
c.236A>G (p.Asn79Ser)
c.*438A>G (n.*438A>G)
c.476A>G (p.Asn159Ser)
c.*303A>G (n.*303A>G)
8g.43122342A>TCA371122082POMKc.518A>T (p.Asn173Ile)
c.*314A>T (n.*314A>T)
c.236A>T (p.Asn79Ile)
c.*438A>T (n.*438A>T)
c.476A>T (p.Asn159Ile)
c.*303A>T (n.*303A>T)
8g.43122343C>ACA371122083POMKc.519C>A (p.Asn173Lys)
c.*315C>A (n.*315C>A)
c.237C>A (p.Asn79Lys)
c.*439C>A (n.*439C>A)
c.477C>A (p.Asn159Lys)
c.*304C>A (n.*304C>A)
8g.43122343C=CA1779747233POMKc.519C= (p.Asn173=)
c.*315C= (n.*315C=)
c.237C= (p.Asn79=)
c.*439C= (n.*439C=)
c.477C= (p.Asn159=)
c.*304C= (n.*304C=)
8g.43122343C>GCA371122084POMKc.519C>G (p.Asn173Lys)
c.*315C>G (n.*315C>G)
c.237C>G (p.Asn79Lys)
c.*439C>G (n.*439C>G)
c.477C>G (p.Asn159Lys)
c.*304C>G (n.*304C>G)
8g.43122343C>TCA460787604POMKc.519C>T (p.Asn173=)
c.*315C>T (n.*315C>T)
c.237C>T (p.Asn79=)
c.*439C>T (n.*439C>T)
c.477C>T (p.Asn159=)
c.*304C>T (n.*304C>T)
dbSNP gnomAD v2 gnomAD v4
8g.43122344A=CA1779747235POMKc.520A= (p.Thr174=)
c.*316A= (n.*316A=)
c.238A= (p.Thr80=)
c.*440A= (n.*440A=)
c.478A= (p.Thr160=)
c.*305A= (n.*305A=)
8g.43122344A>CCA371122085POMKc.520A>C (p.Thr174Pro)
c.*316A>C (n.*316A>C)
c.238A>C (p.Thr80Pro)
c.*440A>C (n.*440A>C)
c.478A>C (p.Thr160Pro)
c.*305A>C (n.*305A>C)
8g.43122344A>GCA4736297POMKc.520A>G (p.Thr174Ala)
c.*316A>G (n.*316A>G)
c.238A>G (p.Thr80Ala)
c.*440A>G (n.*440A>G)
c.478A>G (p.Thr160Ala)
c.*305A>G (n.*305A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122344A>TCA371122086POMKc.520A>T (p.Thr174Ser)
c.*316A>T (n.*316A>T)
c.238A>T (p.Thr80Ser)
c.*440A>T (n.*440A>T)
c.478A>T (p.Thr160Ser)
c.*305A>T (n.*305A>T)
8g.43122345C>ACA371122087POMKc.521C>A (p.Thr174Lys)
c.*317C>A (n.*317C>A)
c.239C>A (p.Thr80Lys)
c.*441C>A (n.*441C>A)
c.479C>A (p.Thr160Lys)
c.*306C>A (n.*306C>A)
8g.43122345C=CA1779747237POMKc.521C= (p.Thr174=)
c.*317C= (n.*317C=)
c.239C= (p.Thr80=)
c.*441C= (n.*441C=)
c.479C= (p.Thr160=)
c.*306C= (n.*306C=)
8g.43122345C>GCA371122088POMKc.521C>G (p.Thr174Arg)
c.*317C>G (n.*317C>G)
c.239C>G (p.Thr80Arg)
c.*441C>G (n.*441C>G)
c.479C>G (p.Thr160Arg)
c.*306C>G (n.*306C>G)
8g.43122345C>TCA176079968POMKc.521C>T (p.Thr174Met)
c.*317C>T (n.*317C>T)
c.239C>T (p.Thr80Met)
c.*441C>T (n.*441C>T)
c.479C>T (p.Thr160Met)
c.*306C>T (n.*306C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122346G>ACA176079975POMKc.522G>A (p.Thr174=)
c.*318G>A (n.*318G>A)
c.240G>A (p.Thr80=)
c.*442G>A (n.*442G>A)
c.480G>A (p.Thr160=)
c.*307G>A (n.*307G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122346G>CCA460787612POMKc.522G>C (p.Thr174=)
c.*318G>C (n.*318G>C)
c.240G>C (p.Thr80=)
c.*442G>C (n.*442G>C)
c.480G>C (p.Thr160=)
c.*307G>C (n.*307G>C)
gnomAD v4
8g.43122346G=CA1779747242POMKc.522G= (p.Thr174=)
c.*318G= (n.*318G=)
c.240G= (p.Thr80=)
c.*442G= (n.*442G=)
c.480G= (p.Thr160=)
c.*307G= (n.*307G=)
8g.43122346G>TCA460787613POMKc.522G>T (p.Thr174=)
c.*318G>T (n.*318G>T)
c.240G>T (p.Thr80=)
c.*442G>T (n.*442G>T)
c.480G>T (p.Thr160=)
c.*307G>T (n.*307G>T)
8g.43122347T>ACA371122091POMKc.523T>A (p.Trp175Arg)
c.*319T>A (n.*319T>A)
c.241T>A (p.Trp81Arg)
c.*443T>A (n.*443T>A)
c.481T>A (p.Trp161Arg)
c.*308T>A (n.*308T>A)
8g.43122347T>CCA371122089POMKc.523T>C (p.Trp175Arg)
c.*319T>C (n.*319T>C)
c.241T>C (p.Trp81Arg)
c.*443T>C (n.*443T>C)
c.481T>C (p.Trp161Arg)
c.*308T>C (n.*308T>C)
dbSNP gnomAD v3 gnomAD v4
8g.43122347T>GCA371122090POMKc.523T>G (p.Trp175Gly)
c.*319T>G (n.*319T>G)
c.241T>G (p.Trp81Gly)
c.*443T>G (n.*443T>G)
c.481T>G (p.Trp161Gly)
c.*308T>G (n.*308T>G)
8g.43122347T=CA1779747244POMKc.523T= (p.Trp175=)
c.*319T= (n.*319T=)
c.241T= (p.Trp81=)
c.*443T= (n.*443T=)
c.481T= (p.Trp161=)
c.*308T= (n.*308T=)
8g.43122348G>ACA371122092POMKc.524G>A (p.Trp175Ter)
c.*320G>A (n.*320G>A)
c.242G>A (p.Trp81Ter)
c.*444G>A (n.*444G>A)
c.482G>A (p.Trp161Ter)
c.*309G>A (n.*309G>A)
8g.43122348G>CCA371122093POMKc.524G>C (p.Trp175Ser)
c.*320G>C (n.*320G>C)
c.242G>C (p.Trp81Ser)
c.*444G>C (n.*444G>C)
c.482G>C (p.Trp161Ser)
c.*309G>C (n.*309G>C)
8g.43122348G>TCA371122094POMKc.524G>T (p.Trp175Leu)
c.*320G>T (n.*320G>T)
c.242G>T (p.Trp81Leu)
c.*444G>T (n.*444G>T)
c.482G>T (p.Trp161Leu)
c.*309G>T (n.*309G>T)
8g.43122349G>ACA371122095POMKc.525G>A (p.Trp175Ter)
c.*321G>A (n.*321G>A)
c.243G>A (p.Trp81Ter)
c.*445G>A (n.*445G>A)
c.483G>A (p.Trp161Ter)
c.*310G>A (n.*310G>A)
8g.43122349G>CCA371122096POMKc.525G>C (p.Trp175Cys)
c.*321G>C (n.*321G>C)
c.243G>C (p.Trp81Cys)
c.*445G>C (n.*445G>C)
c.483G>C (p.Trp161Cys)
c.*310G>C (n.*310G>C)
8g.43122349G>TCA371122097POMKc.525G>T (p.Trp175Cys)
c.*321G>T (n.*321G>T)
c.243G>T (p.Trp81Cys)
c.*445G>T (n.*445G>T)
c.483G>T (p.Trp161Cys)
c.*310G>T (n.*310G>T)
8g.43122350C>ACA371122098POMKc.526C>A (p.Gln176Lys)
c.*322C>A (n.*322C>A)
c.244C>A (p.Gln82Lys)
c.*446C>A (n.*446C>A)
c.484C>A (p.Gln162Lys)
c.*311C>A (n.*311C>A)
gnomAD v4
8g.43122350C>GCA371122099POMKc.526C>G (p.Gln176Glu)
c.*322C>G (n.*322C>G)
c.244C>G (p.Gln82Glu)
c.*446C>G (n.*446C>G)
c.484C>G (p.Gln162Glu)
c.*311C>G (n.*311C>G)
8g.43122350C>TCA371122100POMKc.526C>T (p.Gln176Ter)
c.*322C>T (n.*322C>T)
c.244C>T (p.Gln82Ter)
c.*446C>T (n.*446C>T)
c.484C>T (p.Gln162Ter)
c.*311C>T (n.*311C>T)
8g.43122351A=CA1779747246POMKc.527A= (p.Gln176=)
c.*323A= (n.*323A=)
c.245A= (p.Gln82=)
c.*447A= (n.*447A=)
c.485A= (p.Gln162=)
c.*312A= (n.*312A=)
8g.43122351A>CCA4736298POMKc.527A>C (p.Gln176Pro)
c.*323A>C (n.*323A>C)
c.245A>C (p.Gln82Pro)
c.*447A>C (n.*447A>C)
c.485A>C (p.Gln162Pro)
c.*312A>C (n.*312A>C)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122351A>GCA371122101POMKc.527A>G (p.Gln176Arg)
c.*323A>G (n.*323A>G)
c.245A>G (p.Gln82Arg)
c.*447A>G (n.*447A>G)
c.485A>G (p.Gln162Arg)
c.*312A>G (n.*312A>G)
dbSNP gnomAD v2 gnomAD v4
8g.43122351A>TCA371122102POMKc.527A>T (p.Gln176Leu)
c.*323A>T (n.*323A>T)
c.245A>T (p.Gln82Leu)
c.*447A>T (n.*447A>T)
c.485A>T (p.Gln162Leu)
c.*312A>T (n.*312A>T)
8g.43122352G>ACA460787619POMKc.528G>A (p.Gln176=)
c.*324G>A (n.*324G>A)
c.246G>A (p.Gln82=)
c.*448G>A (n.*448G>A)
c.486G>A (p.Gln162=)
c.*313G>A (n.*313G>A)
8g.43122352G>CCA371122103POMKc.528G>C (p.Gln176His)
c.*324G>C (n.*324G>C)
c.246G>C (p.Gln82His)
c.*448G>C (n.*448G>C)
c.486G>C (p.Gln162His)
c.*313G>C (n.*313G>C)
COSMIC
8g.43122352G>TCA371122104POMKc.528G>T (p.Gln176His)
c.*324G>T (n.*324G>T)
c.246G>T (p.Gln82His)
c.*448G>T (n.*448G>T)
c.486G>T (p.Gln162His)
c.*313G>T (n.*313G>T)
8g.43122353C>ACA371122105POMKc.529C>A (p.His177Asn)
c.*325C>A (n.*325C>A)
c.247C>A (p.His83Asn)
c.*449C>A (n.*449C>A)
c.487C>A (p.His163Asn)
c.*314C>A (n.*314C>A)
8g.43122353C>GCA371122106POMKc.529C>G (p.His177Asp)
c.*325C>G (n.*325C>G)
c.247C>G (p.His83Asp)
c.*449C>G (n.*449C>G)
c.487C>G (p.His163Asp)
c.*314C>G (n.*314C>G)
8g.43122353C>TCA371122107POMKc.529C>T (p.His177Tyr)
c.*325C>T (n.*325C>T)
c.247C>T (p.His83Tyr)
c.*449C>T (n.*449C>T)
c.487C>T (p.His163Tyr)
c.*314C>T (n.*314C>T)
8g.43122354A>CCA371122108POMKc.530A>C (p.His177Pro)
c.*326A>C (n.*326A>C)
c.248A>C (p.His83Pro)
c.*450A>C (n.*450A>C)
c.488A>C (p.His163Pro)
c.*315A>C (n.*315A>C)
8g.43122354A>GCA371122109POMKc.530A>G (p.His177Arg)
c.*326A>G (n.*326A>G)
c.248A>G (p.His83Arg)
c.*450A>G (n.*450A>G)
c.488A>G (p.His163Arg)
c.*315A>G (n.*315A>G)
8g.43122354A>TCA371122110POMKc.530A>T (p.His177Leu)
c.*326A>T (n.*326A>T)
c.248A>T (p.His83Leu)
c.*450A>T (n.*450A>T)
c.488A>T (p.His163Leu)
c.*315A>T (n.*315A>T)
8g.43122355C>ACA371122111POMKc.531C>A (p.His177Gln)
c.*327C>A (n.*327C>A)
c.249C>A (p.His83Gln)
c.*451C>A (n.*451C>A)
c.489C>A (p.His163Gln)
c.*316C>A (n.*316C>A)
8g.43122355C>GCA371122112POMKc.531C>G (p.His177Gln)
c.*327C>G (n.*327C>G)
c.249C>G (p.His83Gln)
c.*451C>G (n.*451C>G)
c.489C>G (p.His163Gln)
c.*316C>G (n.*316C>G)
8g.43122355C>TCA460787620POMKc.531C>T (p.His177=)
c.*327C>T (n.*327C>T)
c.249C>T (p.His83=)
c.*451C>T (n.*451C>T)
c.489C>T (p.His163=)
c.*316C>T (n.*316C>T)
8g.43122356A>CCA460787621POMKc.532A>C (p.Arg178=)
c.*328A>C (n.*328A>C)
c.250A>C (p.Arg84=)
c.*452A>C (n.*452A>C)
c.490A>C (p.Arg164=)
c.*317A>C (n.*317A>C)
8g.43122356A>GCA371122113POMKc.532A>G (p.Arg178Gly)
c.*328A>G (n.*328A>G)
c.250A>G (p.Arg84Gly)
c.*452A>G (n.*452A>G)
c.490A>G (p.Arg164Gly)
c.*317A>G (n.*317A>G)
COSMIC COSMIC
8g.43122356A>TCA371122114POMKc.532A>T (p.Arg178Trp)
c.*328A>T (n.*328A>T)
c.250A>T (p.Arg84Trp)
c.*452A>T (n.*452A>T)
c.490A>T (p.Arg164Trp)
c.*317A>T (n.*317A>T)
8g.43122357G>ACA371122115POMKc.533G>A (p.Arg178Lys)
c.*329G>A (n.*329G>A)
c.251G>A (p.Arg84Lys)
c.*453G>A (n.*453G>A)
c.491G>A (p.Arg164Lys)
c.*318G>A (n.*318G>A)
8g.43122357G>CCA371122116POMKc.533G>C (p.Arg178Thr)
c.*329G>C (n.*329G>C)
c.251G>C (p.Arg84Thr)
c.*453G>C (n.*453G>C)
c.491G>C (p.Arg164Thr)
c.*318G>C (n.*318G>C)
8g.43122357G>TCA371122117POMKc.533G>T (p.Arg178Met)
c.*329G>T (n.*329G>T)
c.251G>T (p.Arg84Met)
c.*453G>T (n.*453G>T)
c.491G>T (p.Arg164Met)
c.*318G>T (n.*318G>T)
COSMIC COSMIC
8g.43122358G>ACA460787626POMKc.534G>A (p.Arg178=)
c.*330G>A (n.*330G>A)
c.252G>A (p.Arg84=)
c.*454G>A (n.*454G>A)
c.492G>A (p.Arg164=)
c.*319G>A (n.*319G>A)
8g.43122358G>CCA371122119POMKc.534G>C (p.Arg178Ser)
c.*330G>C (n.*330G>C)
c.252G>C (p.Arg84Ser)
c.*454G>C (n.*454G>C)
c.492G>C (p.Arg164Ser)
c.*319G>C (n.*319G>C)
8g.43122358G>TCA371122118POMKc.534G>T (p.Arg178Ser)
c.*330G>T (n.*330G>T)
c.252G>T (p.Arg84Ser)
c.*454G>T (n.*454G>T)
c.492G>T (p.Arg164Ser)
c.*319G>T (n.*319G>T)
8g.43122359C>ACA371122120POMKc.535C>A (p.Leu179Met)
c.*331C>A (n.*331C>A)
c.253C>A (p.Leu85Met)
c.*455C>A (n.*455C>A)
c.493C>A (p.Leu165Met)
c.*320C>A (n.*320C>A)
8g.43122359C>GCA371122121POMKc.535C>G (p.Leu179Val)
c.*331C>G (n.*331C>G)
c.253C>G (p.Leu85Val)
c.*455C>G (n.*455C>G)
c.493C>G (p.Leu165Val)
c.*320C>G (n.*320C>G)
8g.43122359C>TCA460787630POMKc.535C>T (p.Leu179=)
c.*331C>T (n.*331C>T)
c.253C>T (p.Leu85=)
c.*455C>T (n.*455C>T)
c.493C>T (p.Leu165=)
c.*320C>T (n.*320C>T)
8g.43122360T>ACA371122122POMKc.536T>A (p.Leu179Gln)
c.*332T>A (n.*332T>A)
c.254T>A (p.Leu85Gln)
c.*456T>A (n.*456T>A)
c.494T>A (p.Leu165Gln)
c.*321T>A (n.*321T>A)
8g.43122360T>CCA371122123POMKc.536T>C (p.Leu179Pro)
c.*332T>C (n.*332T>C)
c.254T>C (p.Leu85Pro)
c.*456T>C (n.*456T>C)
c.494T>C (p.Leu165Pro)
c.*321T>C (n.*321T>C)
8g.43122360T>GCA371122124POMKc.536T>G (p.Leu179Arg)
c.*332T>G (n.*332T>G)
c.254T>G (p.Leu85Arg)
c.*456T>G (n.*456T>G)
c.494T>G (p.Leu165Arg)
c.*321T>G (n.*321T>G)
8g.43122361G>ACA460787633POMKc.537G>A (p.Leu179=)
c.*333G>A (n.*333G>A)
c.255G>A (p.Leu85=)
c.*457G>A (n.*457G>A)
c.495G>A (p.Leu165=)
c.*322G>A (n.*322G>A)
8g.43122361G>CCA460787635POMKc.537G>C (p.Leu179=)
c.*333G>C (n.*333G>C)
c.255G>C (p.Leu85=)
c.*457G>C (n.*457G>C)
c.495G>C (p.Leu165=)
c.*322G>C (n.*322G>C)
8g.43122361G>TCA460787634POMKc.537G>T (p.Leu179=)
c.*333G>T (n.*333G>T)
c.255G>T (p.Leu85=)
c.*457G>T (n.*457G>T)
c.495G>T (p.Leu165=)
c.*322G>T (n.*322G>T)
8g.43122362G>ACA371122125POMKc.538G>A (p.Glu180Lys)
c.*334G>A (n.*334G>A)
c.256G>A (p.Glu86Lys)
c.*458G>A (n.*458G>A)
c.496G>A (p.Glu166Lys)
c.*323G>A (n.*323G>A)
8g.43122362G>CCA371122126POMKc.538G>C (p.Glu180Gln)
c.*334G>C (n.*334G>C)
c.256G>C (p.Glu86Gln)
c.*458G>C (n.*458G>C)
c.496G>C (p.Glu166Gln)
c.*323G>C (n.*323G>C)
gnomAD v4
8g.43122362G>TCA371122127POMKc.538G>T (p.Glu180Ter)
c.*334G>T (n.*334G>T)
c.256G>T (p.Glu86Ter)
c.*458G>T (n.*458G>T)
c.496G>T (p.Glu166Ter)
c.*323G>T (n.*323G>T)
8g.43122363A>CCA371122128POMKc.539A>C (p.Glu180Ala)
c.*335A>C (n.*335A>C)
c.257A>C (p.Glu86Ala)
c.*459A>C (n.*459A>C)
c.497A>C (p.Glu166Ala)
c.*324A>C (n.*324A>C)
8g.43122363A>GCA371122129POMKc.539A>G (p.Glu180Gly)
c.*335A>G (n.*335A>G)
c.257A>G (p.Glu86Gly)
c.*459A>G (n.*459A>G)
c.497A>G (p.Glu166Gly)
c.*324A>G (n.*324A>G)
8g.43122363A>TCA371122130POMKc.539A>T (p.Glu180Val)
c.*335A>T (n.*335A>T)
c.257A>T (p.Glu86Val)
c.*459A>T (n.*459A>T)
c.497A>T (p.Glu166Val)
c.*324A>T (n.*324A>T)
8g.43122364G>ACA460787196POMKc.540G>A (p.Glu180=)
c.*336G>A (n.*336G>A)
c.258G>A (p.Glu86=)
c.*460G>A (n.*460G>A)
c.498G>A (p.Glu166=)
c.*325G>A (n.*325G>A)
8g.43122364G>CCA371122131POMKc.540G>C (p.Glu180Asp)
c.*336G>C (n.*336G>C)
c.258G>C (p.Glu86Asp)
c.*460G>C (n.*460G>C)
c.498G>C (p.Glu166Asp)
c.*325G>C (n.*325G>C)
8g.43122364G>TCA371122132POMKc.540G>T (p.Glu180Asp)
c.*336G>T (n.*336G>T)
c.258G>T (p.Glu86Asp)
c.*460G>T (n.*460G>T)
c.498G>T (p.Glu166Asp)
c.*325G>T (n.*325G>T)
8g.43122365C>ACA371122133POMKc.541C>A (p.Leu181Met)
c.*337C>A (n.*337C>A)
c.259C>A (p.Leu87Met)
c.*461C>A (n.*461C>A)
c.499C>A (p.Leu167Met)
c.*326C>A (n.*326C>A)
8g.43122365C=CA1779747252POMKc.541C= (p.Leu181=)
c.*337C= (n.*337C=)
c.259C= (p.Leu87=)
c.*461C= (n.*461C=)
c.499C= (p.Leu167=)
c.*326C= (n.*326C=)
8g.43122365C>GCA371122134POMKc.541C>G (p.Leu181Val)
c.*337C>G (n.*337C>G)
c.259C>G (p.Leu87Val)
c.*461C>G (n.*461C>G)
c.499C>G (p.Leu167Val)
c.*326C>G (n.*326C>G)
gnomAD v4
8g.43122365C>TCA4736299POMKc.541C>T (p.Leu181=)
c.*337C>T (n.*337C>T)
c.259C>T (p.Leu87=)
c.*461C>T (n.*461C>T)
c.499C>T (p.Leu167=)
c.*326C>T (n.*326C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122366T>ACA371122135POMKc.542T>A (p.Leu181Gln)
c.*338T>A (n.*338T>A)
c.260T>A (p.Leu87Gln)
c.*462T>A (n.*462T>A)
c.500T>A (p.Leu167Gln)
c.*327T>A (n.*327T>A)
8g.43122366T>CCA371122137POMKc.542T>C (p.Leu181Pro)
c.*338T>C (n.*338T>C)
c.260T>C (p.Leu87Pro)
c.*462T>C (n.*462T>C)
c.500T>C (p.Leu167Pro)
c.*327T>C (n.*327T>C)
8g.43122366T>GCA371122136POMKc.542T>G (p.Leu181Arg)
c.*338T>G (n.*338T>G)
c.260T>G (p.Leu87Arg)
c.*462T>G (n.*462T>G)
c.500T>G (p.Leu167Arg)
c.*327T>G (n.*327T>G)
8g.43122367G>ACA460787197POMKc.543G>A (p.Leu181=)
c.*339G>A (n.*339G>A)
c.261G>A (p.Leu87=)
c.*463G>A (n.*463G>A)
c.501G>A (p.Leu167=)
c.*328G>A (n.*328G>A)
8g.43122367G>CCA460787198POMKc.543G>C (p.Leu181=)
c.*339G>C (n.*339G>C)
c.261G>C (p.Leu87=)
c.*463G>C (n.*463G>C)
c.501G>C (p.Leu167=)
c.*328G>C (n.*328G>C)
8g.43122367G>TCA460787199POMKc.543G>T (p.Leu181=)
c.*339G>T (n.*339G>T)
c.261G>T (p.Leu87=)
c.*463G>T (n.*463G>T)
c.501G>T (p.Leu167=)
c.*328G>T (n.*328G>T)
8g.43122368G>ACA371122138POMKc.544G>A (p.Ala182Thr)
c.*340G>A (n.*340G>A)
c.262G>A (p.Ala88Thr)
c.*464G>A (n.*464G>A)
c.502G>A (p.Ala168Thr)
c.*329G>A (n.*329G>A)
dbSNP gnomAD v2 gnomAD v4
8g.43122368G>CCA371122139POMKc.544G>C (p.Ala182Pro)
c.*340G>C (n.*340G>C)
c.262G>C (p.Ala88Pro)
c.*464G>C (n.*464G>C)
c.502G>C (p.Ala168Pro)
c.*329G>C (n.*329G>C)
8g.43122368G=CA1779747255POMKc.544G= (p.Ala182=)
c.*340G= (n.*340G=)
c.262G= (p.Ala88=)
c.*464G= (n.*464G=)
c.502G= (p.Ala168=)
c.*329G= (n.*329G=)
8g.43122368G>TCA371122140POMKc.544G>T (p.Ala182Ser)
c.*340G>T (n.*340G>T)
c.262G>T (p.Ala88Ser)
c.*464G>T (n.*464G>T)
c.502G>T (p.Ala168Ser)
c.*329G>T (n.*329G>T)
dbSNP gnomAD v3 gnomAD v4
8g.43122369C>ACA371122141POMKc.545C>A (p.Ala182Asp)
c.*341C>A (n.*341C>A)
c.263C>A (p.Ala88Asp)
c.*465C>A (n.*465C>A)
c.503C>A (p.Ala168Asp)
c.*330C>A (n.*330C>A)
8g.43122369C=CA1779747259POMKc.545C= (p.Ala182=)
c.*341C= (n.*341C=)
c.263C= (p.Ala88=)
c.*465C= (n.*465C=)
c.503C= (p.Ala168=)
c.*330C= (n.*330C=)
8g.43122369C>GCA371122142POMKc.545C>G (p.Ala182Gly)
c.*341C>G (n.*341C>G)
c.263C>G (p.Ala88Gly)
c.*465C>G (n.*465C>G)
c.503C>G (p.Ala168Gly)
c.*330C>G (n.*330C>G)
8g.43122369C>TCA371122143POMKc.545C>T (p.Ala182Val)
c.*341C>T (n.*341C>T)
c.263C>T (p.Ala88Val)
c.*465C>T (n.*465C>T)
c.503C>T (p.Ala168Val)
c.*330C>T (n.*330C>T)
ClinVar dbSNP gnomAD v4
8g.43122370C>ACA460787200POMKc.546C>A (p.Ala182=)
c.*342C>A (n.*342C>A)
c.264C>A (p.Ala88=)
c.*466C>A (n.*466C>A)
c.504C>A (p.Ala168=)
c.*331C>A (n.*331C>A)
8g.43122370C>GCA460787201POMKc.546C>G (p.Ala182=)
c.*342C>G (n.*342C>G)
c.264C>G (p.Ala88=)
c.*466C>G (n.*466C>G)
c.504C>G (p.Ala168=)
c.*331C>G (n.*331C>G)
8g.43122370C>TCA460787202POMKc.546C>T (p.Ala182=)
c.*342C>T (n.*342C>T)
c.264C>T (p.Ala88=)
c.*466C>T (n.*466C>T)
c.504C>T (p.Ala168=)
c.*331C>T (n.*331C>T)
8g.43122371A=CA1779747260POMKc.547A= (p.Met183=)
c.*343A= (n.*343A=)
c.265A= (p.Met89=)
c.*467A= (n.*467A=)
c.505A= (p.Met169=)
c.*332A= (n.*332A=)
8g.43122371A>CCA371122146POMKc.547A>C (p.Met183Leu)
c.*343A>C (n.*343A>C)
c.265A>C (p.Met89Leu)
c.*467A>C (n.*467A>C)
c.505A>C (p.Met169Leu)
c.*332A>C (n.*332A>C)
8g.43122371A>GCA371122145POMKc.547A>G (p.Met183Val)
c.*343A>G (n.*343A>G)
c.265A>G (p.Met89Val)
c.*467A>G (n.*467A>G)
c.505A>G (p.Met169Val)
c.*332A>G (n.*332A>G)
dbSNP gnomAD v4
8g.43122371A>TCA371122144POMKc.547A>T (p.Met183Leu)
c.*343A>T (n.*343A>T)
c.265A>T (p.Met89Leu)
c.*467A>T (n.*467A>T)
c.505A>T (p.Met169Leu)
c.*332A>T (n.*332A>T)
8g.43122372T>ACA371122147POMKc.548T>A (p.Met183Lys)
c.*344T>A (n.*344T>A)
c.266T>A (p.Met89Lys)
c.*468T>A (n.*468T>A)
c.506T>A (p.Met169Lys)
c.*333T>A (n.*333T>A)
8g.43122372T>CCA4736300POMKc.548T>C (p.Met183Thr)
c.*344T>C (n.*344T>C)
c.266T>C (p.Met89Thr)
c.*468T>C (n.*468T>C)
c.506T>C (p.Met169Thr)
c.*333T>C (n.*333T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122372T>GCA371122148POMKc.548T>G (p.Met183Arg)
c.*344T>G (n.*344T>G)
c.266T>G (p.Met89Arg)
c.*468T>G (n.*468T>G)
c.506T>G (p.Met169Arg)
c.*333T>G (n.*333T>G)
8g.43122372T=CA1779747262POMKc.548T= (p.Met183=)
c.*344T= (n.*344T=)
c.266T= (p.Met89=)
c.*468T= (n.*468T=)
c.506T= (p.Met169=)
c.*333T= (n.*333T=)
8g.43122373G>ACA371122149POMKc.549G>A (p.Met183Ile)
c.*345G>A (n.*345G>A)
c.267G>A (p.Met89Ile)
c.*469G>A (n.*469G>A)
c.507G>A (p.Met169Ile)
c.*334G>A (n.*334G>A)
8g.43122373G>CCA371122150POMKc.549G>C (p.Met183Ile)
c.*345G>C (n.*345G>C)
c.267G>C (p.Met89Ile)
c.*469G>C (n.*469G>C)
c.507G>C (p.Met169Ile)
c.*334G>C (n.*334G>C)
8g.43122373G=CA1779747266POMKc.549G= (p.Met183=)
c.*345G= (n.*345G=)
c.267G= (p.Met89=)
c.*469G= (n.*469G=)
c.507G= (p.Met169=)
c.*334G= (n.*334G=)
8g.43122373G>TCA371122151POMKc.549G>T (p.Met183Ile)
c.*345G>T (n.*345G>T)
c.267G>T (p.Met89Ile)
c.*469G>T (n.*469G>T)
c.507G>T (p.Met169Ile)
c.*334G>T (n.*334G>T)
dbSNP gnomAD v4
8g.43122374G>ACA371122152POMKc.550G>A (p.Asp184Asn)
c.*346G>A (n.*346G>A)
c.268G>A (p.Asp90Asn)
c.*470G>A (n.*470G>A)
c.508G>A (p.Asp170Asn)
c.*335G>A (n.*335G>A)
8g.43122374G>CCA371122154POMKc.550G>C (p.Asp184His)
c.*346G>C (n.*346G>C)
c.268G>C (p.Asp90His)
c.*470G>C (n.*470G>C)
c.508G>C (p.Asp170His)
c.*335G>C (n.*335G>C)
8g.43122374G>TCA371122153POMKc.550G>T (p.Asp184Tyr)
c.*346G>T (n.*346G>T)
c.268G>T (p.Asp90Tyr)
c.*470G>T (n.*470G>T)
c.508G>T (p.Asp170Tyr)
c.*335G>T (n.*335G>T)
8g.43122375A>CCA371122155POMKc.551A>C (p.Asp184Ala)
c.*347A>C (n.*347A>C)
c.269A>C (p.Asp90Ala)
c.*471A>C (n.*471A>C)
c.509A>C (p.Asp170Ala)
c.*336A>C (n.*336A>C)
8g.43122375A>GCA371122156POMKc.551A>G (p.Asp184Gly)
c.*347A>G (n.*347A>G)
c.269A>G (p.Asp90Gly)
c.*471A>G (n.*471A>G)
c.509A>G (p.Asp170Gly)
c.*336A>G (n.*336A>G)
ClinVar
8g.43122375A>TCA371122157POMKc.551A>T (p.Asp184Val)
c.*347A>T (n.*347A>T)
c.269A>T (p.Asp90Val)
c.*471A>T (n.*471A>T)
c.509A>T (p.Asp170Val)
c.*336A>T (n.*336A>T)
8g.43122376C>ACA371122158POMKc.552C>A (p.Asp184Glu)
c.*348C>A (n.*348C>A)
c.270C>A (p.Asp90Glu)
c.*472C>A (n.*472C>A)
c.510C>A (p.Asp170Glu)
c.*337C>A (n.*337C>A)
8g.43122376C=CA1779747269POMKc.552C= (p.Asp184=)
c.*348C= (n.*348C=)
c.270C= (p.Asp90=)
c.*472C= (n.*472C=)
c.510C= (p.Asp170=)
c.*337C= (n.*337C=)
8g.43122376C>GCA371122159POMKc.552C>G (p.Asp184Glu)
c.*348C>G (n.*348C>G)
c.270C>G (p.Asp90Glu)
c.*472C>G (n.*472C>G)
c.510C>G (p.Asp170Glu)
c.*337C>G (n.*337C>G)
dbSNP
8g.43122376C>TCA460787203POMKc.552C>T (p.Asp184=)
c.*348C>T (n.*348C>T)
c.270C>T (p.Asp90=)
c.*472C>T (n.*472C>T)
c.510C>T (p.Asp170=)
c.*337C>T (n.*337C>T)
8g.43122376_43122378delinsCTACA1779747268POMKc.552_554delinsCTA (p.Asp184=)
c.*348_*350delinsCTA (n.*348_*350delinsCTA)
c.270_272delinsCTA (p.Asp90=)
c.*472_*474delinsCTA (n.*472_*474delinsCTA)
c.510_512delinsCTA (p.Asp170=)
c.*337_*339delinsCTA (n.*337_*339delinsCTA)
8g.43122377T>ACA371122160POMKc.553T>A (p.Tyr185Asn)
c.*349T>A (n.*349T>A)
c.271T>A (p.Tyr91Asn)
c.*473T>A (n.*473T>A)
c.511T>A (p.Tyr171Asn)
c.*338T>A (n.*338T>A)
8g.43122377T>CCA176080001POMKc.553T>C (p.Tyr185His)
c.*349T>C (n.*349T>C)
c.271T>C (p.Tyr91His)
c.*473T>C (n.*473T>C)
c.511T>C (p.Tyr171His)
c.*338T>C (n.*338T>C)
ClinVar dbSNP gnomAD v4
8g.43122377T>GCA371122161POMKc.553T>G (p.Tyr185Asp)
c.*349T>G (n.*349T>G)
c.271T>G (p.Tyr91Asp)
c.*473T>G (n.*473T>G)
c.511T>G (p.Tyr171Asp)
c.*338T>G (n.*338T>G)
8g.43122377T=CA1779747274POMKc.553T= (p.Tyr185=)
c.*349T= (n.*349T=)
c.271T= (p.Tyr91=)
c.*473T= (n.*473T=)
c.511T= (p.Tyr171=)
c.*338T= (n.*338T=)
8g.43122378_43122379delCA851957062POMKc.554_555del (p.Tyr185CysfsTer5)
c.*350_*351del (n.*350_*351del)
c.272_273del (p.Tyr91CysfsTer5)
c.*474_*475del (n.*474_*475del)
c.512_513del (p.Tyr171CysfsTer5)
c.*339_*340del (n.*339_*340del)
dbSNP
8g.43122378A=CA1779747278POMKc.554A= (p.Tyr185=)
c.*350A= (n.*350A=)
c.272A= (p.Tyr91=)
c.*474A= (n.*474A=)
c.512A= (p.Tyr171=)
c.*339A= (n.*339A=)
8g.43122378A>CCA371122162POMKc.554A>C (p.Tyr185Ser)
c.*350A>C (n.*350A>C)
c.272A>C (p.Tyr91Ser)
c.*474A>C (n.*474A>C)
c.512A>C (p.Tyr171Ser)
c.*339A>C (n.*339A>C)
dbSNP
8g.43122378A>GCA371122163POMKc.554A>G (p.Tyr185Cys)
c.*350A>G (n.*350A>G)
c.272A>G (p.Tyr91Cys)
c.*474A>G (n.*474A>G)
c.512A>G (p.Tyr171Cys)
c.*339A>G (n.*339A>G)
dbSNP gnomAD v4
8g.43122378A>TCA371122164POMKc.554A>T (p.Tyr185Phe)
c.*350A>T (n.*350A>T)
c.272A>T (p.Tyr91Phe)
c.*474A>T (n.*474A>T)
c.512A>T (p.Tyr171Phe)
c.*339A>T (n.*339A>T)
8g.43122379T>ACA371122165POMKc.555T>A (p.Tyr185Ter)
c.*351T>A (n.*351T>A)
c.273T>A (p.Tyr91Ter)
c.*475T>A (n.*475T>A)
c.513T>A (p.Tyr171Ter)
c.*340T>A (n.*340T>A)
8g.43122379T>CCA4736301POMKc.555T>C (p.Tyr185=)
c.*351T>C (n.*351T>C)
c.273T>C (p.Tyr91=)
c.*475T>C (n.*475T>C)
c.513T>C (p.Tyr171=)
c.*340T>C (n.*340T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122379T>GCA371122166POMKc.555T>G (p.Tyr185Ter)
c.*351T>G (n.*351T>G)
c.273T>G (p.Tyr91Ter)
c.*475T>G (n.*475T>G)
c.513T>G (p.Tyr171Ter)
c.*340T>G (n.*340T>G)
8g.43122379T=CA1779747281POMKc.555T= (p.Tyr185=)
c.*351T= (n.*351T=)
c.273T= (p.Tyr91=)
c.*475T= (n.*475T=)
c.513T= (p.Tyr171=)
c.*340T= (n.*340T=)
8g.43122380G>ACA371122167POMKc.556G>A (p.Val186Ile)
c.*352G>A (n.*352G>A)
c.274G>A (p.Val92Ile)
c.*476G>A (n.*476G>A)
c.514G>A (p.Val172Ile)
c.*341G>A (n.*341G>A)
8g.43122380G>CCA371122168POMKc.556G>C (p.Val186Leu)
c.*352G>C (n.*352G>C)
c.274G>C (p.Val92Leu)
c.*476G>C (n.*476G>C)
c.514G>C (p.Val172Leu)
c.*341G>C (n.*341G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122380G=CA1779747283POMKc.556G= (p.Val186=)
c.*352G= (n.*352G=)
c.274G= (p.Val92=)
c.*476G= (n.*476G=)
c.514G= (p.Val172=)
c.*341G= (n.*341G=)
8g.43122380G>TCA371122169POMKc.556G>T (p.Val186Phe)
c.*352G>T (n.*352G>T)
c.274G>T (p.Val92Phe)
c.*476G>T (n.*476G>T)
c.514G>T (p.Val172Phe)
c.*341G>T (n.*341G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
8g.43122381T>ACA371122170POMKc.557T>A (p.Val186Asp)
c.*353T>A (n.*353T>A)
c.275T>A (p.Val92Asp)
c.*477T>A (n.*477T>A)
c.515T>A (p.Val172Asp)
c.*342T>A (n.*342T>A)
8g.43122381T>CCA371122171POMKc.557T>C (p.Val186Ala)
c.*353T>C (n.*353T>C)
c.275T>C (p.Val92Ala)
c.*477T>C (n.*477T>C)
c.515T>C (p.Val172Ala)
c.*342T>C (n.*342T>C)
8g.43122381T>GCA371122172POMKc.557T>G (p.Val186Gly)
c.*353T>G (n.*353T>G)
c.275T>G (p.Val92Gly)
c.*477T>G (n.*477T>G)
c.515T>G (p.Val172Gly)
c.*342T>G (n.*342T>G)
8g.43122382C>ACA460787204POMKc.558C>A (p.Val186=)
c.*354C>A (n.*354C>A)
c.276C>A (p.Val92=)
c.*478C>A (n.*478C>A)
c.516C>A (p.Val172=)
c.*343C>A (n.*343C>A)
8g.43122382C=CA1779747285POMKc.558C= (p.Val186=)
c.*354C= (n.*354C=)
c.276C= (p.Val92=)
c.*478C= (n.*478C=)
c.516C= (p.Val172=)
c.*343C= (n.*343C=)
8g.43122382C>GCA460787206POMKc.558C>G (p.Val186=)
c.*354C>G (n.*354C>G)
c.276C>G (p.Val92=)
c.*478C>G (n.*478C>G)
c.516C>G (p.Val172=)
c.*343C>G (n.*343C>G)
dbSNP gnomAD v3 gnomAD v4
8g.43122382C>TCA460787205POMKc.558C>T (p.Val186=)
c.*354C>T (n.*354C>T)
c.276C>T (p.Val92=)
c.*478C>T (n.*478C>T)
c.516C>T (p.Val172=)
c.*343C>T (n.*343C>T)
gnomAD v4
8g.43122383A=CA1779747293POMKc.559A= (p.Ser187=)
c.*355A= (n.*355A=)
c.277A= (p.Ser93=)
c.*479A= (n.*479A=)
c.517A= (p.Ser173=)
c.*344A= (n.*344A=)
8g.43122383A>CCA371122173POMKc.559A>C (p.Ser187Arg)
c.*355A>C (n.*355A>C)
c.277A>C (p.Ser93Arg)
c.*479A>C (n.*479A>C)
c.517A>C (p.Ser173Arg)
c.*344A>C (n.*344A>C)
dbSNP gnomAD v3 gnomAD v4
8g.43122383A>GCA176080023POMKc.559A>G (p.Ser187Gly)
c.*355A>G (n.*355A>G)
c.277A>G (p.Ser93Gly)
c.*479A>G (n.*479A>G)
c.517A>G (p.Ser173Gly)
c.*344A>G (n.*344A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122383A>TCA371122174POMKc.559A>T (p.Ser187Cys)
c.*355A>T (n.*355A>T)
c.277A>T (p.Ser93Cys)
c.*479A>T (n.*479A>T)
c.517A>T (p.Ser173Cys)
c.*344A>T (n.*344A>T)
8g.43122384G>ACA371122175POMKc.560G>A (p.Ser187Asn)
c.*356G>A (n.*356G>A)
c.278G>A (p.Ser93Asn)
c.*480G>A (n.*480G>A)
c.518G>A (p.Ser173Asn)
c.*345G>A (n.*345G>A)
8g.43122384G>CCA371122176POMKc.560G>C (p.Ser187Thr)
c.*356G>C (n.*356G>C)
c.278G>C (p.Ser93Thr)
c.*480G>C (n.*480G>C)
c.518G>C (p.Ser173Thr)
c.*345G>C (n.*345G>C)
8g.43122384G>TCA371122177POMKc.560G>T (p.Ser187Ile)
c.*356G>T (n.*356G>T)
c.278G>T (p.Ser93Ile)
c.*480G>T (n.*480G>T)
c.518G>T (p.Ser173Ile)
c.*345G>T (n.*345G>T)
8g.43122385C>ACA371122179POMKc.561C>A (p.Ser187Arg)
c.*357C>A (n.*357C>A)
c.279C>A (p.Ser93Arg)
c.*481C>A (n.*481C>A)
c.519C>A (p.Ser173Arg)
c.*346C>A (n.*346C>A)
8g.43122385C>GCA371122178POMKc.561C>G (p.Ser187Arg)
c.*357C>G (n.*357C>G)
c.279C>G (p.Ser93Arg)
c.*481C>G (n.*481C>G)
c.519C>G (p.Ser173Arg)
c.*346C>G (n.*346C>G)
8g.43122385C>TCA460787207POMKc.561C>T (p.Ser187=)
c.*357C>T (n.*357C>T)
c.279C>T (p.Ser93=)
c.*481C>T (n.*481C>T)
c.519C>T (p.Ser173=)
c.*346C>T (n.*346C>T)
8g.43122386A>CCA371122180POMKc.562A>C (p.Ile188Leu)
c.*358A>C (n.*358A>C)
c.280A>C (p.Ile94Leu)
c.*482A>C (n.*482A>C)
c.520A>C (p.Ile174Leu)
c.*347A>C (n.*347A>C)
8g.43122386A>GCA371122181POMKc.562A>G (p.Ile188Val)
c.*358A>G (n.*358A>G)
c.280A>G (p.Ile94Val)
c.*482A>G (n.*482A>G)
c.520A>G (p.Ile174Val)
c.*347A>G (n.*347A>G)
8g.43122386A>TCA371122182POMKc.562A>T (p.Ile188Phe)
c.*358A>T (n.*358A>T)
c.280A>T (p.Ile94Phe)
c.*482A>T (n.*482A>T)
c.520A>T (p.Ile174Phe)
c.*347A>T (n.*347A>T)
8g.43122387T>ACA371122183POMKc.563T>A (p.Ile188Asn)
c.*359T>A (n.*359T>A)
c.281T>A (p.Ile94Asn)
c.*483T>A (n.*483T>A)
c.521T>A (p.Ile174Asn)
c.*348T>A (n.*348T>A)
8g.43122387T>CCA371122184POMKc.563T>C (p.Ile188Thr)
c.*359T>C (n.*359T>C)
c.281T>C (p.Ile94Thr)
c.*483T>C (n.*483T>C)
c.521T>C (p.Ile174Thr)
c.*348T>C (n.*348T>C)
8g.43122387T>GCA371122185POMKc.563T>G (p.Ile188Ser)
c.*359T>G (n.*359T>G)
c.281T>G (p.Ile94Ser)
c.*483T>G (n.*483T>G)
c.521T>G (p.Ile174Ser)
c.*348T>G (n.*348T>G)
8g.43122388C>ACA460787208POMKc.564C>A (p.Ile188=)
c.*360C>A (n.*360C>A)
c.282C>A (p.Ile94=)
c.*484C>A (n.*484C>A)
c.522C>A (p.Ile174=)
c.*349C>A (n.*349C>A)
8g.43122388C=CA1779747298POMKc.564C= (p.Ile188=)
c.*360C= (n.*360C=)
c.282C= (p.Ile94=)
c.*484C= (n.*484C=)
c.522C= (p.Ile174=)
c.*349C= (n.*349C=)
8g.43122388C>GCA371122186POMKc.564C>G (p.Ile188Met)
c.*360C>G (n.*360C>G)
c.282C>G (p.Ile94Met)
c.*484C>G (n.*484C>G)
c.522C>G (p.Ile174Met)
c.*349C>G (n.*349C>G)
8g.43122388C>TCA4736302POMKc.564C>T (p.Ile188=)
c.*360C>T (n.*360C>T)
c.282C>T (p.Ile94=)
c.*484C>T (n.*484C>T)
c.522C>T (p.Ile174=)
c.*349C>T (n.*349C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122389A=CA1779747306POMKc.565A= (p.Ile189=)
c.*361A= (n.*361A=)
c.283A= (p.Ile95=)
c.*485A= (n.*485A=)
c.523A= (p.Ile175=)
c.*350A= (n.*350A=)
8g.43122389A>CCA371122187POMKc.565A>C (p.Ile189Leu)
c.*361A>C (n.*361A>C)
c.283A>C (p.Ile95Leu)
c.*485A>C (n.*485A>C)
c.523A>C (p.Ile175Leu)
c.*350A>C (n.*350A>C)
8g.43122389A>GCA4736303POMKc.565A>G (p.Ile189Val)
c.*361A>G (n.*361A>G)
c.283A>G (p.Ile95Val)
c.*485A>G (n.*485A>G)
c.523A>G (p.Ile175Val)
c.*350A>G (n.*350A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122389A>TCA4736304POMKc.565A>T (p.Ile189Phe)
c.*361A>T (n.*361A>T)
c.283A>T (p.Ile95Phe)
c.*485A>T (n.*485A>T)
c.523A>T (p.Ile175Phe)
c.*350A>T (n.*350A>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122390T>ACA371122190POMKc.566T>A (p.Ile189Asn)
c.*362T>A (n.*362T>A)
c.284T>A (p.Ile95Asn)
c.*486T>A (n.*486T>A)
c.524T>A (p.Ile175Asn)
c.*351T>A (n.*351T>A)
8g.43122390T>CCA371122189POMKc.566T>C (p.Ile189Thr)
c.*362T>C (n.*362T>C)
c.284T>C (p.Ile95Thr)
c.*486T>C (n.*486T>C)
c.524T>C (p.Ile175Thr)
c.*351T>C (n.*351T>C)
8g.43122390T>GCA371122188POMKc.566T>G (p.Ile189Ser)
c.*362T>G (n.*362T>G)
c.284T>G (p.Ile95Ser)
c.*486T>G (n.*486T>G)
c.524T>G (p.Ile175Ser)
c.*351T>G (n.*351T>G)
gnomAD v4
8g.43122391T>ACA460787210POMKc.567T>A (p.Ile189=)
c.*363T>A (n.*363T>A)
c.285T>A (p.Ile95=)
c.*487T>A (n.*487T>A)
c.525T>A (p.Ile175=)
c.*352T>A (n.*352T>A)
8g.43122391T>CCA460787209POMKc.567T>C (p.Ile189=)
c.*363T>C (n.*363T>C)
c.285T>C (p.Ile95=)
c.*487T>C (n.*487T>C)
c.525T>C (p.Ile175=)
c.*352T>C (n.*352T>C)
8g.43122391T>GCA371122191POMKc.567T>G (p.Ile189Met)
c.*363T>G (n.*363T>G)
c.285T>G (p.Ile95Met)
c.*487T>G (n.*487T>G)
c.525T>G (p.Ile175Met)
c.*352T>G (n.*352T>G)
8g.43122392A>CCA371122195POMKc.568A>C (p.Asn190His)
c.*364A>C (n.*364A>C)
c.286A>C (p.Asn96His)
c.*488A>C (n.*488A>C)
c.526A>C (p.Asn176His)
c.*353A>C (n.*353A>C)
8g.43122392A>GCA371122192POMKc.568A>G (p.Asn190Asp)
c.*364A>G (n.*364A>G)
c.286A>G (p.Asn96Asp)
c.*488A>G (n.*488A>G)
c.526A>G (p.Asn176Asp)
c.*353A>G (n.*353A>G)
8g.43122392A>TCA371122193POMKc.568A>T (p.Asn190Tyr)
c.*364A>T (n.*364A>T)
c.286A>T (p.Asn96Tyr)
c.*488A>T (n.*488A>T)
c.526A>T (p.Asn176Tyr)
c.*353A>T (n.*353A>T)
8g.43122393A=CA1779747313POMKc.569A= (p.Asn190=)
c.*365A= (n.*365A=)
c.287A= (p.Asn96=)
c.*489A= (n.*489A=)
c.527A= (p.Asn176=)
c.*354A= (n.*354A=)
8g.43122393A>CCA371122196POMKc.569A>C (p.Asn190Thr)
c.*365A>C (n.*365A>C)
c.287A>C (p.Asn96Thr)
c.*489A>C (n.*489A>C)
c.527A>C (p.Asn176Thr)
c.*354A>C (n.*354A>C)
8g.43122393A>GCA371122197POMKc.569A>G (p.Asn190Ser)
c.*365A>G (n.*365A>G)
c.287A>G (p.Asn96Ser)
c.*489A>G (n.*489A>G)
c.527A>G (p.Asn176Ser)
c.*354A>G (n.*354A>G)
dbSNP gnomAD v4
8g.43122393A>TCA371122198POMKc.569A>T (p.Asn190Ile)
c.*365A>T (n.*365A>T)
c.287A>T (p.Asn96Ile)
c.*489A>T (n.*489A>T)
c.527A>T (p.Asn176Ile)
c.*354A>T (n.*354A>T)
8g.43122394T>ACA371122199POMKc.570T>A (p.Asn190Lys)
c.*366T>A (n.*366T>A)
c.288T>A (p.Asn96Lys)
c.*490T>A (n.*490T>A)
c.528T>A (p.Asn176Lys)
c.*355T>A (n.*355T>A)
8g.43122394T>CCA460787211POMKc.570T>C (p.Asn190=)
c.*366T>C (n.*366T>C)
c.288T>C (p.Asn96=)
c.*490T>C (n.*490T>C)
c.528T>C (p.Asn176=)
c.*355T>C (n.*355T>C)
8g.43122394T>GCA371122200POMKc.570T>G (p.Asn190Lys)
c.*366T>G (n.*366T>G)
c.288T>G (p.Asn96Lys)
c.*490T>G (n.*490T>G)
c.528T>G (p.Asn176Lys)
c.*355T>G (n.*355T>G)
8g.43122395T>ACA371122201POMKc.571T>A (p.Tyr191Asn)
c.*367T>A (n.*367T>A)
c.289T>A (p.Tyr97Asn)
c.*491T>A (n.*491T>A)
c.529T>A (p.Tyr177Asn)
c.*356T>A (n.*356T>A)
8g.43122395T>CCA371122202POMKc.571T>C (p.Tyr191His)
c.*367T>C (n.*367T>C)
c.289T>C (p.Tyr97His)
c.*491T>C (n.*491T>C)
c.529T>C (p.Tyr177His)
c.*356T>C (n.*356T>C)
8g.43122395T>GCA371122203POMKc.571T>G (p.Tyr191Asp)
c.*367T>G (n.*367T>G)
c.289T>G (p.Tyr97Asp)
c.*491T>G (n.*491T>G)
c.529T>G (p.Tyr177Asp)
c.*356T>G (n.*356T>G)
dbSNP
8g.43122396A=CA1779747315POMKc.572A= (p.Tyr191=)
c.*368A= (n.*368A=)
c.290A= (p.Tyr97=)
c.*492A= (n.*492A=)
c.530A= (p.Tyr177=)
c.*357A= (n.*357A=)
8g.43122396A>CCA371122204POMKc.572A>C (p.Tyr191Ser)
c.*368A>C (n.*368A>C)
c.290A>C (p.Tyr97Ser)
c.*492A>C (n.*492A>C)
c.530A>C (p.Tyr177Ser)
c.*357A>C (n.*357A>C)
dbSNP
8g.43122396A>GCA371122205POMKc.572A>G (p.Tyr191Cys)
c.*368A>G (n.*368A>G)
c.290A>G (p.Tyr97Cys)
c.*492A>G (n.*492A>G)
c.530A>G (p.Tyr177Cys)
c.*357A>G (n.*357A>G)
8g.43122396A>TCA371122206POMKc.572A>T (p.Tyr191Phe)
c.*368A>T (n.*368A>T)
c.290A>T (p.Tyr97Phe)
c.*492A>T (n.*492A>T)
c.530A>T (p.Tyr177Phe)
c.*357A>T (n.*357A>T)
8g.43122397C>ACA371122207POMKc.573C>A (p.Tyr191Ter)
c.*369C>A (n.*369C>A)
c.291C>A (p.Tyr97Ter)
c.*493C>A (n.*493C>A)
c.531C>A (p.Tyr177Ter)
c.*358C>A (n.*358C>A)
8g.43122397C>GCA371122208POMKc.573C>G (p.Tyr191Ter)
c.*369C>G (n.*369C>G)
c.291C>G (p.Tyr97Ter)
c.*493C>G (n.*493C>G)
c.531C>G (p.Tyr177Ter)
c.*358C>G (n.*358C>G)
8g.43122397C>TCA460787212POMKc.573C>T (p.Tyr191=)
c.*369C>T (n.*369C>T)
c.291C>T (p.Tyr97=)
c.*493C>T (n.*493C>T)
c.531C>T (p.Tyr177=)
c.*358C>T (n.*358C>T)
8g.43122398C>ACA371122209POMKc.574C>A (p.Leu192Met)
c.*370C>A (n.*370C>A)
c.292C>A (p.Leu98Met)
c.*494C>A (n.*494C>A)
c.532C>A (p.Leu178Met)
c.*359C>A (n.*359C>A)
8g.43122398C>GCA371122210POMKc.574C>G (p.Leu192Val)
c.*370C>G (n.*370C>G)
c.292C>G (p.Leu98Val)
c.*494C>G (n.*494C>G)
c.532C>G (p.Leu178Val)
c.*359C>G (n.*359C>G)
COSMIC COSMIC
8g.43122398C>TCA460787213POMKc.574C>T (p.Leu192=)
c.*370C>T (n.*370C>T)
c.292C>T (p.Leu98=)
c.*494C>T (n.*494C>T)
c.532C>T (p.Leu178=)
c.*359C>T (n.*359C>T)
8g.43122399T>ACA371122211POMKc.575T>A (p.Leu192Gln)
c.*371T>A (n.*371T>A)
c.293T>A (p.Leu98Gln)
c.*495T>A (n.*495T>A)
c.533T>A (p.Leu178Gln)
c.*360T>A (n.*360T>A)
8g.43122399T>CCA371122212POMKc.575T>C (p.Leu192Pro)
c.*371T>C (n.*371T>C)
c.293T>C (p.Leu98Pro)
c.*495T>C (n.*495T>C)
c.533T>C (p.Leu178Pro)
c.*360T>C (n.*360T>C)
8g.43122399T>GCA371122213POMKc.575T>G (p.Leu192Arg)
c.*371T>G (n.*371T>G)
c.293T>G (p.Leu98Arg)
c.*495T>G (n.*495T>G)
c.533T>G (p.Leu178Arg)
c.*360T>G (n.*360T>G)
8g.43122400G>ACA460787214POMKc.576G>A (p.Leu192=)
c.*372G>A (n.*372G>A)
c.294G>A (p.Leu98=)
c.*496G>A (n.*496G>A)
c.534G>A (p.Leu178=)
c.*361G>A (n.*361G>A)
ClinVar dbSNP gnomAD v2
8g.43122400G>CCA460787215POMKc.576G>C (p.Leu192=)
c.*372G>C (n.*372G>C)
c.294G>C (p.Leu98=)
c.*496G>C (n.*496G>C)
c.534G>C (p.Leu178=)
c.*361G>C (n.*361G>C)
8g.43122400G=CA1779747318POMKc.576G= (p.Leu192=)
c.*372G= (n.*372G=)
c.294G= (p.Leu98=)
c.*496G= (n.*496G=)
c.534G= (p.Leu178=)
c.*361G= (n.*361G=)
8g.43122400G>TCA460787216POMKc.576G>T (p.Leu192=)
c.*372G>T (n.*372G>T)
c.294G>T (p.Leu98=)
c.*496G>T (n.*496G>T)
c.534G>T (p.Leu178=)
c.*361G>T (n.*361G>T)
gnomAD v4
8g.43122401C>ACA371122214POMKc.577C>A (p.His193Asn)
c.*373C>A (n.*373C>A)
c.295C>A (p.His99Asn)
c.*497C>A (n.*497C>A)
c.535C>A (p.His179Asn)
c.*362C>A (n.*362C>A)
8g.43122401C>GCA371122215POMKc.577C>G (p.His193Asp)
c.*373C>G (n.*373C>G)
c.295C>G (p.His99Asp)
c.*497C>G (n.*497C>G)
c.535C>G (p.His179Asp)
c.*362C>G (n.*362C>G)
ClinVar
8g.43122401C>TCA371122216POMKc.577C>T (p.His193Tyr)
c.*373C>T (n.*373C>T)
c.295C>T (p.His99Tyr)
c.*497C>T (n.*497C>T)
c.535C>T (p.His179Tyr)
c.*362C>T (n.*362C>T)
8g.43122402A>CCA371122217POMKc.578A>C (p.His193Pro)
c.*374A>C (n.*374A>C)
c.296A>C (p.His99Pro)
c.*498A>C (n.*498A>C)
c.536A>C (p.His179Pro)
c.*363A>C (n.*363A>C)
8g.43122402A>GCA371122218POMKc.578A>G (p.His193Arg)
c.*374A>G (n.*374A>G)
c.296A>G (p.His99Arg)
c.*498A>G (n.*498A>G)
c.536A>G (p.His179Arg)
c.*363A>G (n.*363A>G)
8g.43122402A>TCA371122219POMKc.578A>T (p.His193Leu)
c.*374A>T (n.*374A>T)
c.296A>T (p.His99Leu)
c.*498A>T (n.*498A>T)
c.536A>T (p.His179Leu)
c.*363A>T (n.*363A>T)
8g.43122403C>ACA371122220POMKc.579C>A (p.His193Gln)
c.*375C>A (n.*375C>A)
c.297C>A (p.His99Gln)
c.*499C>A (n.*499C>A)
c.537C>A (p.His179Gln)
c.*364C>A (n.*364C>A)
gnomAD v4
8g.43122403C=CA1779747322POMKc.579C= (p.His193=)
c.*375C= (n.*375C=)
c.297C= (p.His99=)
c.*499C= (n.*499C=)
c.537C= (p.His179=)
c.*364C= (n.*364C=)
8g.43122403C>GCA371122221POMKc.579C>G (p.His193Gln)
c.*375C>G (n.*375C>G)
c.297C>G (p.His99Gln)
c.*499C>G (n.*499C>G)
c.537C>G (p.His179Gln)
c.*364C>G (n.*364C>G)
8g.43122403C>TCA4736305POMKc.579C>T (p.His193=)
c.*375C>T (n.*375C>T)
c.297C>T (p.His99=)
c.*499C>T (n.*499C>T)
c.537C>T (p.His179=)
c.*364C>T (n.*364C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122404C>ACA371122222POMKc.580C>A (p.His194Asn)
c.*376C>A (n.*376C>A)
c.298C>A (p.His100Asn)
c.*500C>A (n.*500C>A)
c.538C>A (p.His180Asn)
c.*365C>A (n.*365C>A)
gnomAD v4
8g.43122404C=CA1779747325POMKc.580C= (p.His194=)
c.*376C= (n.*376C=)
c.298C= (p.His100=)
c.*500C= (n.*500C=)
c.538C= (p.His180=)
c.*365C= (n.*365C=)
8g.43122404C>GCA371122223POMKc.580C>G (p.His194Asp)
c.*376C>G (n.*376C>G)
c.298C>G (p.His100Asp)
c.*500C>G (n.*500C>G)
c.538C>G (p.His180Asp)
c.*365C>G (n.*365C>G)
8g.43122404C>TCA4736306POMKc.580C>T (p.His194Tyr)
c.*376C>T (n.*376C>T)
c.298C>T (p.His100Tyr)
c.*500C>T (n.*500C>T)
c.538C>T (p.His180Tyr)
c.*365C>T (n.*365C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122405A=CA1779747328POMKc.581A= (p.His194=)
c.*377A= (n.*377A=)
c.299A= (p.His100=)
c.*501A= (n.*501A=)
c.539A= (p.His180=)
c.*366A= (n.*366A=)
8g.43122405A>CCA371122224POMKc.581A>C (p.His194Pro)
c.*377A>C (n.*377A>C)
c.299A>C (p.His100Pro)
c.*501A>C (n.*501A>C)
c.539A>C (p.His180Pro)
c.*366A>C (n.*366A>C)
8g.43122405A>GCA371122225POMKc.581A>G (p.His194Arg)
c.*377A>G (n.*377A>G)
c.299A>G (p.His100Arg)
c.*501A>G (n.*501A>G)
c.539A>G (p.His180Arg)
c.*366A>G (n.*366A>G)
dbSNP gnomAD v3 gnomAD v4
8g.43122405A>TCA4736307POMKc.581A>T (p.His194Leu)
c.*377A>T (n.*377A>T)
c.299A>T (p.His100Leu)
c.*501A>T (n.*501A>T)
c.539A>T (p.His180Leu)
c.*366A>T (n.*366A>T)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122406C>ACA371122226POMKc.582C>A (p.His194Gln)
c.*378C>A (n.*378C>A)
c.300C>A (p.His100Gln)
c.*502C>A (n.*502C>A)
c.540C>A (p.His180Gln)
c.*367C>A (n.*367C>A)
8g.43122406C=CA1779747331POMKc.582C= (p.His194=)
c.*378C= (n.*378C=)
c.300C= (p.His100=)
c.*502C= (n.*502C=)
c.540C= (p.His180=)
c.*367C= (n.*367C=)
8g.43122406C>GCA4736308POMKc.582C>G (p.His194Gln)
c.*378C>G (n.*378C>G)
c.300C>G (p.His100Gln)
c.*502C>G (n.*502C>G)
c.540C>G (p.His180Gln)
c.*367C>G (n.*367C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122406C>TCA460787217POMKc.582C>T (p.His194=)
c.*378C>T (n.*378C>T)
c.300C>T (p.His100=)
c.*502C>T (n.*502C>T)
c.540C>T (p.His180=)
c.*367C>T (n.*367C>T)
dbSNP gnomAD v4
8g.43122407A>CCA371122227POMKc.583A>C (p.Ser195Arg)
c.*379A>C (n.*379A>C)
c.301A>C (p.Ser101Arg)
c.*503A>C (n.*503A>C)
c.541A>C (p.Ser181Arg)
c.*368A>C (n.*368A>C)
8g.43122407A>GCA371122228POMKc.583A>G (p.Ser195Gly)
c.*379A>G (n.*379A>G)
c.301A>G (p.Ser101Gly)
c.*503A>G (n.*503A>G)
c.541A>G (p.Ser181Gly)
c.*368A>G (n.*368A>G)
gnomAD v4
8g.43122407A>TCA371122229POMKc.583A>T (p.Ser195Cys)
c.*379A>T (n.*379A>T)
c.301A>T (p.Ser101Cys)
c.*503A>T (n.*503A>T)
c.541A>T (p.Ser181Cys)
c.*368A>T (n.*368A>T)
8g.43122408G>ACA371122230POMKc.584G>A (p.Ser195Asn)
c.*380G>A (n.*380G>A)
c.302G>A (p.Ser101Asn)
c.*504G>A (n.*504G>A)
c.542G>A (p.Ser181Asn)
c.*369G>A (n.*369G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.43122408G>CCA371122231POMKc.584G>C (p.Ser195Thr)
c.*380G>C (n.*380G>C)
c.302G>C (p.Ser101Thr)
c.*504G>C (n.*504G>C)
c.542G>C (p.Ser181Thr)
c.*369G>C (n.*369G>C)
8g.43122408G=CA1779747335POMKc.584G= (p.Ser195=)
c.*380G= (n.*380G=)
c.302G= (p.Ser101=)
c.*504G= (n.*504G=)
c.542G= (p.Ser181=)
c.*369G= (n.*369G=)
8g.43122408G>TCA371122232POMKc.584G>T (p.Ser195Ile)
c.*380G>T (n.*380G>T)
c.302G>T (p.Ser101Ile)
c.*504G>T (n.*504G>T)
c.542G>T (p.Ser181Ile)
c.*369G>T (n.*369G>T)
8g.43122409_43122430delCA2579158816POMKc.585_606del (p.Pro196AlafsTer15)
c.*381_*402del (n.*381_*402del)
c.303_324del (p.Pro102AlafsTer15)
c.*505_*526del (n.*505_*526del)
c.543_564del (p.Pro182AlafsTer15)
c.*370_*391del (n.*370_*391del)
8g.43122409C>ACA4736309POMKc.585C>A (p.Ser195Arg)
c.*381C>A (n.*381C>A)
c.303C>A (p.Ser101Arg)
c.*505C>A (n.*505C>A)
c.543C>A (p.Ser181Arg)
c.*370C>A (n.*370C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
8g.43122409C=CA1779747338POMKc.585C= (p.Ser195=)
c.*381C= (n.*381C=)
c.303C= (p.Ser101=)
c.*505C= (n.*505C=)
c.543C= (p.Ser181=)
c.*370C= (n.*370C=)
8g.43122409C>GCA371122233POMKc.585C>G (p.Ser195Arg)
c.*381C>G (n.*381C>G)
c.303C>G (p.Ser101Arg)
c.*505C>G (n.*505C>G)
c.543C>G (p.Ser181Arg)
c.*370C>G (n.*370C>G)
gnomAD v4
8g.43122409C>TCA460787218POMKc.585C>T (p.Ser195=)
c.*381C>T (n.*381C>T)
c.303C>T (p.Ser101=)
c.*505C>T (n.*505C>T)
c.543C>T (p.Ser181=)
c.*370C>T (n.*370C>T)
dbSNP
8g.43122409_43122412delCA2687148295POMKc.585_588del (p.Ser195ArgfsTer22)
c.*381_*384del (n.*381_*384del)
c.303_306del (p.Ser101ArgfsTer22)
c.*505_*508del (n.*505_*508del)
c.543_546del (p.Ser181ArgfsTer22)
c.*370_*373del (n.*370_*373del)
gnomAD v4
8g.43122410C>ACA371122234POMKc.586C>A (p.Pro196Thr)
c.*382C>A (n.*382C>A)
c.304C>A (p.Pro102Thr)
c.*506C>A (n.*506C>A)
c.544C>A (p.Pro182Thr)
c.*371C>A (n.*371C>A)
8g.43122410C>GCA371122235POMKc.586C>G (p.Pro196Ala)
c.*382C>G (n.*382C>G)
c.304C>G (p.Pro102Ala)
c.*506C>G (n.*506C>G)
c.544C>G (p.Pro182Ala)
c.*371C>G (n.*371C>G)
8g.43122410C>TCA371122236POMKc.586C>T (p.Pro196Ser)
c.*382C>T (n.*382C>T)
c.304C>T (p.Pro102Ser)
c.*506C>T (n.*506C>T)
c.544C>T (p.Pro182Ser)
c.*371C>T (n.*371C>T)
8g.43122411C>ACA371122237POMKc.587C>A (p.Pro196His)
c.*383C>A (n.*383C>A)
c.305C>A (p.Pro102His)
c.*507C>A (n.*507C>A)
c.545C>A (p.Pro182His)
c.*372C>A (n.*372C>A)
8g.43122411C>GCA371122238POMKc.587C>G (p.Pro196Arg)
c.*383C>G (n.*383C>G)
c.305C>G (p.Pro102Arg)
c.*507C>G (n.*507C>G)
c.545C>G (p.Pro182Arg)
c.*372C>G (n.*372C>G)
8g.43122411C>TCA371122239POMKc.587C>T (p.Pro196Leu)
c.*383C>T (n.*383C>T)
c.305C>T (p.Pro102Leu)
c.*507C>T (n.*507C>T)
c.545C>T (p.Pro182Leu)
c.*372C>T (n.*372C>T)
gnomAD v3 gnomAD v4
8g.43122412T>ACA460787220POMKc.588T>A (p.Pro196=)
c.*384T>A (n.*384T>A)
c.306T>A (p.Pro102=)
c.*508T>A (n.*508T>A)
c.546T>A (p.Pro182=)
c.*373T>A (n.*373T>A)
8g.43122412T>CCA4736310POMKc.588T>C (p.Pro196=)
c.*384T>C (n.*384T>C)
c.306T>C (p.Pro102=)
c.*508T>C (n.*508T>C)
c.546T>C (p.Pro182=)
c.*373T>C (n.*373T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122412T>GCA460787219POMKc.588T>G (p.Pro196=)
c.*384T>G (n.*384T>G)
c.306T>G (p.Pro102=)
c.*508T>G (n.*508T>G)
c.546T>G (p.Pro182=)
c.*373T>G (n.*373T>G)
8g.43122412T=CA1779747341POMKc.588T= (p.Pro196=)
c.*384T= (n.*384T=)
c.306T= (p.Pro102=)
c.*508T= (n.*508T=)
c.546T= (p.Pro182=)
c.*373T= (n.*373T=)
8g.43122413G>ACA371122240POMKc.589G>A (p.Val197Met)
c.*385G>A (n.*385G>A)
c.307G>A (p.Val103Met)
c.*509G>A (n.*509G>A)
c.547G>A (p.Val183Met)
c.*374G>A (n.*374G>A)
dbSNP gnomAD v2 gnomAD v4
8g.43122413G>CCA371122241POMKc.589G>C (p.Val197Leu)
c.*385G>C (n.*385G>C)
c.307G>C (p.Val103Leu)
c.*509G>C (n.*509G>C)
c.547G>C (p.Val183Leu)
c.*374G>C (n.*374G>C)
8g.43122413G=CA1779747348POMKc.589G= (p.Val197=)
c.*385G= (n.*385G=)
c.307G= (p.Val103=)
c.*509G= (n.*509G=)
c.547G= (p.Val183=)
c.*374G= (n.*374G=)
8g.43122413G>TCA4736311POMKc.589G>T (p.Val197Leu)
c.*385G>T (n.*385G>T)
c.307G>T (p.Val103Leu)
c.*509G>T (n.*509G>T)
c.547G>T (p.Val183Leu)
c.*374G>T (n.*374G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122414T>ACA371122242POMKc.590T>A (p.Val197Glu)
c.*386T>A (n.*386T>A)
c.308T>A (p.Val103Glu)
c.*510T>A (n.*510T>A)
c.548T>A (p.Val183Glu)
c.*375T>A (n.*375T>A)
8g.43122414T>CCA371122243POMKc.590T>C (p.Val197Ala)
c.*386T>C (n.*386T>C)
c.308T>C (p.Val103Ala)
c.*510T>C (n.*510T>C)
c.548T>C (p.Val183Ala)
c.*375T>C (n.*375T>C)
gnomAD v4
8g.43122414T>GCA371122244POMKc.590T>G (p.Val197Gly)
c.*386T>G (n.*386T>G)
c.308T>G (p.Val103Gly)
c.*510T>G (n.*510T>G)
c.548T>G (p.Val183Gly)
c.*375T>G (n.*375T>G)
8g.43122414_43122431delCA2687148312POMKc.590_607del (p.Val197_Cys203delinsGly)
c.*386_*403del (n.*386_*403del)
c.308_325del (p.Val103_Cys109delinsGly)
c.*510_*527del (n.*510_*527del)
c.548_565del (p.Val183_Cys189delinsGly)
c.*375_*392del (n.*375_*392del)
gnomAD v4
8g.43122415G>ACA460787221POMKc.591G>A (p.Val197=)
c.*387G>A (n.*387G>A)
c.309G>A (p.Val103=)
c.*511G>A (n.*511G>A)
c.549G>A (p.Val183=)
c.*376G>A (n.*376G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122415G>CCA460787222POMKc.591G>C (p.Val197=)
c.*387G>C (n.*387G>C)
c.309G>C (p.Val103=)
c.*511G>C (n.*511G>C)
c.549G>C (p.Val183=)
c.*376G>C (n.*376G>C)
8g.43122415G=CA1779747353POMKc.591G= (p.Val197=)
c.*387G= (n.*387G=)
c.309G= (p.Val103=)
c.*511G= (n.*511G=)
c.549G= (p.Val183=)
c.*376G= (n.*376G=)
8g.43122415G>TCA4736312POMKc.591G>T (p.Val197=)
c.*387G>T (n.*387G>T)
c.309G>T (p.Val103=)
c.*511G>T (n.*511G>T)
c.549G>T (p.Val183=)
c.*376G>T (n.*376G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122416G>ACA371122246POMKc.592G>A (p.Gly198Ser)
c.*388G>A (n.*388G>A)
c.310G>A (p.Gly104Ser)
c.*512G>A (n.*512G>A)
c.550G>A (p.Gly184Ser)
c.*377G>A (n.*377G>A)
8g.43122416G>CCA371122245POMKc.592G>C (p.Gly198Arg)
c.*388G>C (n.*388G>C)
c.310G>C (p.Gly104Arg)
c.*512G>C (n.*512G>C)
c.550G>C (p.Gly184Arg)
c.*377G>C (n.*377G>C)
8g.43122416G>TCA371122247POMKc.592G>T (p.Gly198Cys)
c.*388G>T (n.*388G>T)
c.310G>T (p.Gly104Cys)
c.*512G>T (n.*512G>T)
c.550G>T (p.Gly184Cys)
c.*377G>T (n.*377G>T)
8g.43122417G>ACA371122248POMKc.593G>A (p.Gly198Asp)
c.*389G>A (n.*389G>A)
c.311G>A (p.Gly104Asp)
c.*513G>A (n.*513G>A)
c.551G>A (p.Gly184Asp)
c.*378G>A (n.*378G>A)
gnomAD v4
8g.43122417G>CCA371122250POMKc.593G>C (p.Gly198Ala)
c.*389G>C (n.*389G>C)
c.311G>C (p.Gly104Ala)
c.*513G>C (n.*513G>C)
c.551G>C (p.Gly184Ala)
c.*378G>C (n.*378G>C)
8g.43122417G>TCA371122249POMKc.593G>T (p.Gly198Val)
c.*389G>T (n.*389G>T)
c.311G>T (p.Gly104Val)
c.*513G>T (n.*513G>T)
c.551G>T (p.Gly184Val)
c.*378G>T (n.*378G>T)
8g.43122418C>ACA460787223POMKc.594C>A (p.Gly198=)
c.*390C>A (n.*390C>A)
c.312C>A (p.Gly104=)
c.*514C>A (n.*514C>A)
c.552C>A (p.Gly184=)
c.*379C>A (n.*379C>A)
8g.43122418C=CA1779747359POMKc.594C= (p.Gly198=)
c.*390C= (n.*390C=)
c.312C= (p.Gly104=)
c.*514C= (n.*514C=)
c.552C= (p.Gly184=)
c.*379C= (n.*379C=)
8g.43122418C>GCA460787224POMKc.594C>G (p.Gly198=)
c.*390C>G (n.*390C>G)
c.312C>G (p.Gly104=)
c.*514C>G (n.*514C>G)
c.552C>G (p.Gly184=)
c.*379C>G (n.*379C>G)
8g.43122418C>TCA460787225POMKc.594C>T (p.Gly198=)
c.*390C>T (n.*390C>T)
c.312C>T (p.Gly104=)
c.*514C>T (n.*514C>T)
c.552C>T (p.Gly184=)
c.*379C>T (n.*379C>T)
8g.43122419A>CCA371122251POMKc.595A>C (p.Thr199Pro)
c.*391A>C (n.*391A>C)
c.313A>C (p.Thr105Pro)
c.*515A>C (n.*515A>C)
c.553A>C (p.Thr185Pro)
c.*380A>C (n.*380A>C)
8g.43122419A>GCA371122252POMKc.595A>G (p.Thr199Ala)
c.*391A>G (n.*391A>G)
c.313A>G (p.Thr105Ala)
c.*515A>G (n.*515A>G)
c.553A>G (p.Thr185Ala)
c.*380A>G (n.*380A>G)
8g.43122419A>TCA371122253POMKc.595A>T (p.Thr199Ser)
c.*391A>T (n.*391A>T)
c.313A>T (p.Thr105Ser)
c.*515A>T (n.*515A>T)
c.553A>T (p.Thr185Ser)
c.*380A>T (n.*380A>T)
8g.43122419dupCA581929121POMKc.595dup (p.Thr199AsnfsTer29)
c.*391dup (n.*391dup)
c.313dup (p.Thr105AsnfsTer29)
c.*515dup (n.*515dup)
c.553dup (p.Thr185AsnfsTer29)
c.*380dup (n.*380dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.43122420C>ACA371122254POMKc.596C>A (p.Thr199Lys)
c.*392C>A (n.*392C>A)
c.314C>A (p.Thr105Lys)
c.*516C>A (n.*516C>A)
c.554C>A (p.Thr185Lys)
c.*381C>A (n.*381C>A)
8g.43122420C>GCA371122255POMKc.596C>G (p.Thr199Arg)
c.*392C>G (n.*392C>G)
c.314C>G (p.Thr105Arg)
c.*516C>G (n.*516C>G)
c.554C>G (p.Thr185Arg)
c.*381C>G (n.*381C>G)
8g.43122420C>TCA371122256POMKc.596C>T (p.Thr199Ile)
c.*392C>T (n.*392C>T)
c.314C>T (p.Thr105Ile)
c.*516C>T (n.*516C>T)
c.554C>T (p.Thr185Ile)
c.*381C>T (n.*381C>T)
gnomAD v4
8g.43122421A>CCA460787226POMKc.597A>C (p.Thr199=)
c.*393A>C (n.*393A>C)
c.315A>C (p.Thr105=)
c.*517A>C (n.*517A>C)
c.555A>C (p.Thr185=)
c.*382A>C (n.*382A>C)
8g.43122421A>GCA460787227POMKc.597A>G (p.Thr199=)
c.*393A>G (n.*393A>G)
c.315A>G (p.Thr105=)
c.*517A>G (n.*517A>G)
c.555A>G (p.Thr185=)
c.*382A>G (n.*382A>G)
8g.43122421A>TCA460787228POMKc.597A>T (p.Thr199=)
c.*393A>T (n.*393A>T)
c.315A>T (p.Thr105=)
c.*517A>T (n.*517A>T)
c.555A>T (p.Thr185=)
c.*382A>T (n.*382A>T)
8g.43122422C>ACA460787229POMKc.598C>A (p.Arg200=)
c.*394C>A (n.*394C>A)
c.316C>A (p.Arg106=)
c.*518C>A (n.*518C>A)
c.556C>A (p.Arg186=)
c.*383C>A (n.*383C>A)
8g.43122422C=CA1779747364POMKc.598C= (p.Arg200=)
c.*394C= (n.*394C=)
c.316C= (p.Arg106=)
c.*518C= (n.*518C=)
c.556C= (p.Arg186=)
c.*383C= (n.*383C=)
8g.43122422C>GCA371122257POMKc.598C>G (p.Arg200Gly)
c.*394C>G (n.*394C>G)
c.316C>G (p.Arg106Gly)
c.*518C>G (n.*518C>G)
c.556C>G (p.Arg186Gly)
c.*383C>G (n.*383C>G)
8g.43122422C>TCA4736313POMKc.598C>T (p.Arg200Trp)
c.*394C>T (n.*394C>T)
c.316C>T (p.Arg106Trp)
c.*518C>T (n.*518C>T)
c.556C>T (p.Arg186Trp)
c.*383C>T (n.*383C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122423G>ACA4736314POMKc.599G>A (p.Arg200Gln)
c.*395G>A (n.*395G>A)
c.317G>A (p.Arg106Gln)
c.*519G>A (n.*519G>A)
c.557G>A (p.Arg186Gln)
c.*384G>A (n.*384G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122423G>CCA371122258POMKc.599G>C (p.Arg200Pro)
c.*395G>C (n.*395G>C)
c.317G>C (p.Arg106Pro)
c.*519G>C (n.*519G>C)
c.557G>C (p.Arg186Pro)
c.*384G>C (n.*384G>C)
8g.43122423G=CA1779747378POMKc.599G= (p.Arg200=)
c.*395G= (n.*395G=)
c.317G= (p.Arg106=)
c.*519G= (n.*519G=)
c.557G= (p.Arg186=)
c.*384G= (n.*384G=)
8g.43122423G>TCA4736315POMKc.599G>T (p.Arg200Leu)
c.*395G>T (n.*395G>T)
c.317G>T (p.Arg106Leu)
c.*519G>T (n.*519G>T)
c.557G>T (p.Arg186Leu)
c.*384G>T (n.*384G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122424G>ACA460787230POMKc.600G>A (p.Arg200=)
c.*396G>A (n.*396G>A)
c.318G>A (p.Arg106=)
c.*520G>A (n.*520G>A)
c.558G>A (p.Arg186=)
c.*385G>A (n.*385G>A)
dbSNP gnomAD v3 gnomAD v4
8g.43122424G>CCA460787231POMKc.600G>C (p.Arg200=)
c.*396G>C (n.*396G>C)
c.318G>C (p.Arg106=)
c.*520G>C (n.*520G>C)
c.558G>C (p.Arg186=)
c.*385G>C (n.*385G>C)
8g.43122424G=CA1779747388POMKc.600G= (p.Arg200=)
c.*396G= (n.*396G=)
c.318G= (p.Arg106=)
c.*520G= (n.*520G=)
c.558G= (p.Arg186=)
c.*385G= (n.*385G=)
8g.43122424G>TCA460787232POMKc.600G>T (p.Arg200=)
c.*396G>T (n.*396G>T)
c.318G>T (p.Arg106=)
c.*520G>T (n.*520G>T)
c.558G>T (p.Arg186=)
c.*385G>T (n.*385G>T)
8g.43122425G>ACA371122261POMKc.601G>A (p.Val201Ile)
c.*397G>A (n.*397G>A)
c.319G>A (p.Val107Ile)
c.*521G>A (n.*521G>A)
c.559G>A (p.Val187Ile)
c.*386G>A (n.*386G>A)
8g.43122425G>CCA371122260POMKc.601G>C (p.Val201Leu)
c.*397G>C (n.*397G>C)
c.319G>C (p.Val107Leu)
c.*521G>C (n.*521G>C)
c.559G>C (p.Val187Leu)
c.*386G>C (n.*386G>C)
8g.43122425G>TCA371122259POMKc.601G>T (p.Val201Phe)
c.*397G>T (n.*397G>T)
c.319G>T (p.Val107Phe)
c.*521G>T (n.*521G>T)
c.559G>T (p.Val187Phe)
c.*386G>T (n.*386G>T)
8g.43122426T>ACA371122262POMKc.602T>A (p.Val201Asp)
c.*398T>A (n.*398T>A)
c.320T>A (p.Val107Asp)
c.*522T>A (n.*522T>A)
c.560T>A (p.Val187Asp)
c.*387T>A (n.*387T>A)
8g.43122426T>CCA371122263POMKc.602T>C (p.Val201Ala)
c.*398T>C (n.*398T>C)
c.320T>C (p.Val107Ala)
c.*522T>C (n.*522T>C)
c.560T>C (p.Val187Ala)
c.*387T>C (n.*387T>C)
gnomAD v4
8g.43122426T>GCA371122264POMKc.602T>G (p.Val201Gly)
c.*398T>G (n.*398T>G)
c.320T>G (p.Val107Gly)
c.*522T>G (n.*522T>G)
c.560T>G (p.Val187Gly)
c.*387T>G (n.*387T>G)
8g.43122427C>ACA460787233POMKc.603C>A (p.Val201=)
c.*399C>A (n.*399C>A)
c.321C>A (p.Val107=)
c.*523C>A (n.*523C>A)
c.561C>A (p.Val187=)
c.*388C>A (n.*388C>A)
gnomAD v4
8g.43122427C>GCA460787234POMKc.603C>G (p.Val201=)
c.*399C>G (n.*399C>G)
c.321C>G (p.Val107=)
c.*523C>G (n.*523C>G)
c.561C>G (p.Val187=)
c.*388C>G (n.*388C>G)
8g.43122427C>TCA460787235POMKc.603C>T (p.Val201=)
c.*399C>T (n.*399C>T)
c.321C>T (p.Val107=)
c.*523C>T (n.*523C>T)
c.561C>T (p.Val187=)
c.*388C>T (n.*388C>T)
gnomAD v4
8g.43122428A>CCA371122265POMKc.604A>C (p.Met202Leu)
c.*400A>C (n.*400A>C)
c.322A>C (p.Met108Leu)
c.*524A>C (n.*524A>C)
c.562A>C (p.Met188Leu)
c.*389A>C (n.*389A>C)
8g.43122428A>GCA371122266POMKc.604A>G (p.Met202Val)
c.*400A>G (n.*400A>G)
c.322A>G (p.Met108Val)
c.*524A>G (n.*524A>G)
c.562A>G (p.Met188Val)
c.*389A>G (n.*389A>G)
8g.43122428A>TCA371122267POMKc.604A>T (p.Met202Leu)
c.*400A>T (n.*400A>T)
c.322A>T (p.Met108Leu)
c.*524A>T (n.*524A>T)
c.562A>T (p.Met188Leu)
c.*389A>T (n.*389A>T)
8g.43122429T>ACA371122268POMKc.605T>A (p.Met202Lys)
c.*401T>A (n.*401T>A)
c.323T>A (p.Met108Lys)
c.*525T>A (n.*525T>A)
c.563T>A (p.Met188Lys)
c.*390T>A (n.*390T>A)
8g.43122429T>CCA4736316POMKc.605T>C (p.Met202Thr)
c.*401T>C (n.*401T>C)
c.323T>C (p.Met108Thr)
c.*525T>C (n.*525T>C)
c.563T>C (p.Met188Thr)
c.*390T>C (n.*390T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.43122429T>GCA371122269POMKc.605T>G (p.Met202Arg)
c.*401T>G (n.*401T>G)
c.323T>G (p.Met108Arg)
c.*525T>G (n.*525T>G)
c.563T>G (p.Met188Arg)
c.*390T>G (n.*390T>G)
8g.43122429T=CA1779747393POMKc.605T= (p.Met202=)
c.*401T= (n.*401T=)
c.323T= (p.Met108=)
c.*525T= (n.*525T=)
c.563T= (p.Met188=)
c.*390T= (n.*390T=)
8g.43122430G>ACA371122270POMKc.606G>A (p.Met202Ile)
c.*402G>A (n.*402G>A)
c.324G>A (p.Met108Ile)
c.*526G>A (n.*526G>A)
c.564G>A (p.Met188Ile)
c.*391G>A (n.*391G>A)
gnomAD v4
8g.43122430G>CCA371122271POMKc.606G>C (p.Met202Ile)
c.*402G>C (n.*402G>C)
c.324G>C (p.Met108Ile)
c.*526G>C (n.*526G>C)
c.564G>C (p.Met188Ile)
c.*391G>C (n.*391G>C)
8g.43122430G>TCA371122272POMKc.606G>T (p.Met202Ile)
c.*402G>T (n.*402G>T)
c.324G>T (p.Met108Ile)
c.*526G>T (n.*526G>T)
c.564G>T (p.Met188Ile)
c.*391G>T (n.*391G>T)

Number of alleles fetched