Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189867816T>GCA2759859343TP63c.883-17T>G (n.883-17T>G)
c.601-17T>G (n.601-17T>G)
c.346-17T>G (n.346-17T>G)
n.707-17T>G
c.832-17T>G (n.832-17T>G)
c.880-17T>G (n.880-17T>G)
c.877-17T>G (n.877-17T>G)
c.844-17T>G (n.844-17T>G)
3g.189867817_189867820dupCA2669042326TP63c.883-16_883-13dup (n.883-16_883-13dup)
c.601-16_601-13dup (n.601-16_601-13dup)
c.346-16_346-13dup (n.346-16_346-13dup)
n.707-16_707-13dup
c.832-16_832-13dup (n.832-16_832-13dup)
c.880-16_880-13dup (n.880-16_880-13dup)
c.877-16_877-13dup (n.877-16_877-13dup)
c.844-16_844-13dup (n.844-16_844-13dup)
gnomAD v4
3g.189867818A=CA1428494476TP63c.883-15A= (n.883-15A=)
c.601-15A= (n.601-15A=)
c.346-15A= (n.346-15A=)
n.707-15A=
c.832-15A= (n.832-15A=)
c.880-15A= (n.880-15A=)
c.877-15A= (n.877-15A=)
c.844-15A= (n.844-15A=)
3g.189867818A>GCA1428494478TP63c.883-15A>G (n.883-15A>G)
c.601-15A>G (n.601-15A>G)
c.346-15A>G (n.346-15A>G)
n.707-15A>G
c.832-15A>G (n.832-15A>G)
c.880-15A>G (n.880-15A>G)
c.877-15A>G (n.877-15A>G)
c.844-15A>G (n.844-15A>G)
ClinVar dbSNP
3g.189867818A>TCA2704776294TP63c.883-15A>T (n.883-15A>T)
c.601-15A>T (n.601-15A>T)
c.346-15A>T (n.346-15A>T)
n.707-15A>T
c.832-15A>T (n.832-15A>T)
c.880-15A>T (n.880-15A>T)
c.877-15A>T (n.877-15A>T)
c.844-15A>T (n.844-15A>T)
dbSNP
3g.189867819C>ACA2669042327TP63c.883-14C>A (n.883-14C>A)
c.601-14C>A (n.601-14C>A)
c.346-14C>A (n.346-14C>A)
n.707-14C>A
c.832-14C>A (n.832-14C>A)
c.880-14C>A (n.880-14C>A)
c.877-14C>A (n.877-14C>A)
c.844-14C>A (n.844-14C>A)
gnomAD v4
3g.189867819C>TCA2759859344TP63c.883-14C>T (n.883-14C>T)
c.601-14C>T (n.601-14C>T)
c.346-14C>T (n.346-14C>T)
n.707-14C>T
c.832-14C>T (n.832-14C>T)
c.880-14C>T (n.880-14C>T)
c.877-14C>T (n.877-14C>T)
c.844-14C>T (n.844-14C>T)
3g.189867820C>ACA2759859345TP63c.883-13C>A (n.883-13C>A)
c.601-13C>A (n.601-13C>A)
c.346-13C>A (n.346-13C>A)
n.707-13C>A
c.832-13C>A (n.832-13C>A)
c.880-13C>A (n.880-13C>A)
c.877-13C>A (n.877-13C>A)
c.844-13C>A (n.844-13C>A)
3g.189867820C=CA1428494483TP63c.883-13C= (n.883-13C=)
c.601-13C= (n.601-13C=)
c.346-13C= (n.346-13C=)
n.707-13C=
c.832-13C= (n.832-13C=)
c.880-13C= (n.880-13C=)
c.877-13C= (n.877-13C=)
c.844-13C= (n.844-13C=)
3g.189867820C>TCA904223633TP63c.883-13C>T (n.883-13C>T)
c.601-13C>T (n.601-13C>T)
c.346-13C>T (n.346-13C>T)
n.707-13C>T
c.832-13C>T (n.832-13C>T)
c.880-13C>T (n.880-13C>T)
c.877-13C>T (n.877-13C>T)
c.844-13C>T (n.844-13C>T)
dbSNP gnomAD v3 gnomAD v4
3g.189867822C>TCA2669042328TP63c.883-11C>T (n.883-11C>T)
c.601-11C>T (n.601-11C>T)
c.346-11C>T (n.346-11C>T)
n.707-11C>T
c.832-11C>T (n.832-11C>T)
c.880-11C>T (n.880-11C>T)
c.877-11C>T (n.877-11C>T)
c.844-11C>T (n.844-11C>T)
gnomAD v4
3g.189867823T>ACA904223640TP63c.883-10T>A (n.883-10T>A)
c.601-10T>A (n.601-10T>A)
c.346-10T>A (n.346-10T>A)
n.707-10T>A
c.832-10T>A (n.832-10T>A)
c.880-10T>A (n.880-10T>A)
c.877-10T>A (n.877-10T>A)
c.844-10T>A (n.844-10T>A)
dbSNP
3g.189867823T>CCA2669042329TP63c.883-10T>C (n.883-10T>C)
c.601-10T>C (n.601-10T>C)
c.346-10T>C (n.346-10T>C)
n.707-10T>C
c.832-10T>C (n.832-10T>C)
c.880-10T>C (n.880-10T>C)
c.877-10T>C (n.877-10T>C)
c.844-10T>C (n.844-10T>C)
ClinVar gnomAD v4
3g.189867823T=CA1428494488TP63c.883-10T= (n.883-10T=)
c.601-10T= (n.601-10T=)
c.346-10T= (n.346-10T=)
n.707-10T=
c.832-10T= (n.832-10T=)
c.880-10T= (n.880-10T=)
c.877-10T= (n.877-10T=)
c.844-10T= (n.844-10T=)
3g.189867824T>CCA2669042330TP63c.883-9T>C (n.883-9T>C)
c.601-9T>C (n.601-9T>C)
c.346-9T>C (n.346-9T>C)
n.707-9T>C
c.832-9T>C (n.832-9T>C)
c.880-9T>C (n.880-9T>C)
c.877-9T>C (n.877-9T>C)
c.844-9T>C (n.844-9T>C)
gnomAD v4
3g.189867824T>GCA2752292TP63c.883-9T>G (n.883-9T>G)
c.601-9T>G (n.601-9T>G)
c.346-9T>G (n.346-9T>G)
n.707-9T>G
c.832-9T>G (n.832-9T>G)
c.880-9T>G (n.880-9T>G)
c.877-9T>G (n.877-9T>G)
c.844-9T>G (n.844-9T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189867824T=CA1428494489TP63c.883-9T= (n.883-9T=)
c.601-9T= (n.601-9T=)
c.346-9T= (n.346-9T=)
n.707-9T=
c.832-9T= (n.832-9T=)
c.880-9T= (n.880-9T=)
c.877-9T= (n.877-9T=)
c.844-9T= (n.844-9T=)
3g.189867825G>ACA2669042331TP63c.883-8G>A (n.883-8G>A)
c.601-8G>A (n.601-8G>A)
c.346-8G>A (n.346-8G>A)
n.707-8G>A
c.832-8G>A (n.832-8G>A)
c.880-8G>A (n.880-8G>A)
c.877-8G>A (n.877-8G>A)
c.844-8G>A (n.844-8G>A)
gnomAD v4
3g.189867825G>CCA1428494491TP63c.883-8G>C (n.883-8G>C)
c.601-8G>C (n.601-8G>C)
c.346-8G>C (n.346-8G>C)
n.707-8G>C
c.832-8G>C (n.832-8G>C)
c.880-8G>C (n.880-8G>C)
c.877-8G>C (n.877-8G>C)
c.844-8G>C (n.844-8G>C)
dbSNP gnomAD v4
3g.189867825G=CA1428494490TP63c.883-8G= (n.883-8G=)
c.601-8G= (n.601-8G=)
c.346-8G= (n.346-8G=)
n.707-8G=
c.832-8G= (n.832-8G=)
c.880-8G= (n.880-8G=)
c.877-8G= (n.877-8G=)
c.844-8G= (n.844-8G=)
3g.189867825_189867827delinsGTTCA1428494492TP63c.883-8_883-6delinsGTT (n.883-8_883-6delinsGTT)
c.601-8_601-6delinsGTT (n.601-8_601-6delinsGTT)
c.346-8_346-6delinsGTT (n.346-8_346-6delinsGTT)
n.707-8_707-6delinsGTT
c.832-8_832-6delinsGTT (n.832-8_832-6delinsGTT)
c.880-8_880-6delinsGTT (n.880-8_880-6delinsGTT)
c.877-8_877-6delinsGTT (n.877-8_877-6delinsGTT)
c.844-8_844-6delinsGTT (n.844-8_844-6delinsGTT)
3g.189867826T>GCA2704923476TP63c.883-7T>G (n.883-7T>G)
c.601-7T>G (n.601-7T>G)
c.346-7T>G (n.346-7T>G)
n.707-7T>G
c.832-7T>G (n.832-7T>G)
c.880-7T>G (n.880-7T>G)
c.877-7T>G (n.877-7T>G)
c.844-7T>G (n.844-7T>G)
dbSNP
3g.189867828_189867829delCA1428494493TP63c.883-5_883-4del (n.883-5_883-4del)
c.601-5_601-4del (n.601-5_601-4del)
c.346-5_346-4del (n.346-5_346-4del)
n.707-5_707-4del
c.832-5_832-4del (n.832-5_832-4del)
c.880-5_880-4del (n.880-5_880-4del)
c.877-5_877-4del (n.877-5_877-4del)
c.844-5_844-4del (n.844-5_844-4del)
dbSNP
3g.189867831A>CCA355754792TP63c.883-2A>C (n.883-2A>C)
c.601-2A>C (n.601-2A>C)
c.346-2A>C (n.346-2A>C)
n.707-2A>C
c.832-2A>C (n.832-2A>C)
c.880-2A>C (n.880-2A>C)
c.877-2A>C (n.877-2A>C)
c.844-2A>C (n.844-2A>C)
3g.189867831A>GCA355754793TP63c.883-2A>G (n.883-2A>G)
c.601-2A>G (n.601-2A>G)
c.346-2A>G (n.346-2A>G)
n.707-2A>G
c.832-2A>G (n.832-2A>G)
c.880-2A>G (n.880-2A>G)
c.877-2A>G (n.877-2A>G)
c.844-2A>G (n.844-2A>G)
3g.189867831A>TCA355754794TP63c.883-2A>T (n.883-2A>T)
c.601-2A>T (n.601-2A>T)
c.346-2A>T (n.346-2A>T)
n.707-2A>T
c.832-2A>T (n.832-2A>T)
c.880-2A>T (n.880-2A>T)
c.877-2A>T (n.877-2A>T)
c.844-2A>T (n.844-2A>T)
3g.189867832G>ACA355754799TP63c.883-1G>A (n.883-1G>A)
c.601-1G>A (n.601-1G>A)
c.346-1G>A (n.346-1G>A)
n.707-1G>A
c.832-1G>A (n.832-1G>A)
c.880-1G>A (n.880-1G>A)
c.877-1G>A (n.877-1G>A)
c.844-1G>A (n.844-1G>A)
3g.189867832G>CCA355754797TP63c.883-1G>C (n.883-1G>C)
c.601-1G>C (n.601-1G>C)
c.346-1G>C (n.346-1G>C)
n.707-1G>C
c.832-1G>C (n.832-1G>C)
c.880-1G>C (n.880-1G>C)
c.877-1G>C (n.877-1G>C)
c.844-1G>C (n.844-1G>C)
3g.189867832G>TCA355754796TP63c.883-1G>T (n.883-1G>T)
c.601-1G>T (n.601-1G>T)
c.346-1G>T (n.346-1G>T)
n.707-1G>T
c.832-1G>T (n.832-1G>T)
c.880-1G>T (n.880-1G>T)
c.877-1G>T (n.877-1G>T)
c.844-1G>T (n.844-1G>T)
3g.189867833G>ACA355754803TP63c.883G>A (p.Val295Ile)
c.601G>A (p.Val201Ile)
c.346G>A (p.Val116Ile)
n.707G>A
c.832G>A (p.Val278Ile)
c.880G>A (p.Val294Ile)
c.877G>A (p.Val293Ile)
c.844G>A (p.Val282Ile)
gnomAD v4
3g.189867833G>CCA355754800TP63c.883G>C (p.Val295Leu)
c.601G>C (p.Val201Leu)
c.346G>C (p.Val116Leu)
n.707G>C
c.832G>C (p.Val278Leu)
c.880G>C (p.Val294Leu)
c.877G>C (p.Val293Leu)
c.844G>C (p.Val282Leu)
3g.189867833G>TCA355754802TP63c.883G>T (p.Val295Phe)
c.601G>T (p.Val201Phe)
c.346G>T (p.Val116Phe)
n.707G>T
c.832G>T (p.Val278Phe)
c.880G>T (p.Val294Phe)
c.877G>T (p.Val293Phe)
c.844G>T (p.Val282Phe)
3g.189867834T>ACA355754805TP63c.884T>A (p.Val295Asp)
c.602T>A (p.Val201Asp)
c.347T>A (p.Val116Asp)
n.708T>A
c.833T>A (p.Val278Asp)
c.881T>A (p.Val294Asp)
c.878T>A (p.Val293Asp)
c.845T>A (p.Val282Asp)
3g.189867834T>CCA89745721TP63c.884T>C (p.Val295Ala)
c.602T>C (p.Val201Ala)
c.347T>C (p.Val116Ala)
n.708T>C
c.833T>C (p.Val278Ala)
c.881T>C (p.Val294Ala)
c.878T>C (p.Val293Ala)
c.845T>C (p.Val282Ala)
dbSNP
3g.189867834T>GCA355754807TP63c.884T>G (p.Val295Gly)
c.602T>G (p.Val201Gly)
c.347T>G (p.Val116Gly)
n.708T>G
c.833T>G (p.Val278Gly)
c.881T>G (p.Val294Gly)
c.878T>G (p.Val293Gly)
c.845T>G (p.Val282Gly)
3g.189867834T=CA1428494496TP63c.884T= (p.Val295=)
c.602T= (p.Val201=)
c.347T= (p.Val116=)
n.708T=
c.833T= (p.Val278=)
c.881T= (p.Val294=)
c.878T= (p.Val293=)
c.845T= (p.Val282=)
3g.189867835T>ACA437413176TP63c.885T>A (p.Val295=)
c.603T>A (p.Val201=)
c.348T>A (p.Val116=)
n.709T>A
c.834T>A (p.Val278=)
c.882T>A (p.Val294=)
c.879T>A (p.Val293=)
c.846T>A (p.Val282=)
3g.189867835T>CCA437413177TP63c.885T>C (p.Val295=)
c.603T>C (p.Val201=)
c.348T>C (p.Val116=)
n.709T>C
c.834T>C (p.Val278=)
c.882T>C (p.Val294=)
c.879T>C (p.Val293=)
c.846T>C (p.Val282=)
3g.189867835T>GCA437413178TP63c.885T>G (p.Val295=)
c.603T>G (p.Val201=)
c.348T>G (p.Val116=)
n.709T>G
c.834T>G (p.Val278=)
c.882T>G (p.Val294=)
c.879T>G (p.Val293=)
c.846T>G (p.Val282=)
3g.189867836G>ACA355754808TP63c.886G>A (p.Gly296Ser)
c.604G>A (p.Gly202Ser)
c.349G>A (p.Gly117Ser)
n.710G>A
c.835G>A (p.Gly279Ser)
c.883G>A (p.Gly295Ser)
c.880G>A (p.Gly294Ser)
c.847G>A (p.Gly283Ser)
3g.189867836G>CCA355754810TP63c.886G>C (p.Gly296Arg)
c.604G>C (p.Gly202Arg)
c.349G>C (p.Gly117Arg)
n.710G>C
c.835G>C (p.Gly279Arg)
c.883G>C (p.Gly295Arg)
c.880G>C (p.Gly294Arg)
c.847G>C (p.Gly283Arg)
3g.189867836G>TCA355754811TP63c.886G>T (p.Gly296Cys)
c.604G>T (p.Gly202Cys)
c.349G>T (p.Gly117Cys)
n.710G>T
c.835G>T (p.Gly279Cys)
c.883G>T (p.Gly295Cys)
c.880G>T (p.Gly294Cys)
c.847G>T (p.Gly283Cys)
3g.189867837G>ACA355754813TP63c.887G>A (p.Gly296Asp)
c.605G>A (p.Gly202Asp)
c.350G>A (p.Gly117Asp)
n.711G>A
c.836G>A (p.Gly279Asp)
c.884G>A (p.Gly295Asp)
c.881G>A (p.Gly294Asp)
c.848G>A (p.Gly283Asp)
3g.189867837G>CCA355754816TP63c.887G>C (p.Gly296Ala)
c.605G>C (p.Gly202Ala)
c.350G>C (p.Gly117Ala)
n.711G>C
c.836G>C (p.Gly279Ala)
c.884G>C (p.Gly295Ala)
c.881G>C (p.Gly294Ala)
c.848G>C (p.Gly283Ala)
3g.189867837G>TCA355754815TP63c.887G>T (p.Gly296Val)
c.605G>T (p.Gly202Val)
c.350G>T (p.Gly117Val)
n.711G>T
c.836G>T (p.Gly279Val)
c.884G>T (p.Gly295Val)
c.881G>T (p.Gly294Val)
c.848G>T (p.Gly283Val)
3g.189867838C>ACA437413179TP63c.888C>A (p.Gly296=)
c.606C>A (p.Gly202=)
c.351C>A (p.Gly117=)
n.712C>A
c.837C>A (p.Gly279=)
c.885C>A (p.Gly295=)
c.882C>A (p.Gly294=)
c.849C>A (p.Gly283=)
3g.189867838C=CA1428494503TP63c.888C= (p.Gly296=)
c.606C= (p.Gly202=)
c.351C= (p.Gly117=)
n.712C=
c.837C= (p.Gly279=)
c.885C= (p.Gly295=)
c.882C= (p.Gly294=)
c.849C= (p.Gly283=)
3g.189867838C>GCA2752293TP63c.888C>G (p.Gly296=)
c.606C>G (p.Gly202=)
c.351C>G (p.Gly117=)
n.712C>G
c.837C>G (p.Gly279=)
c.885C>G (p.Gly295=)
c.882C>G (p.Gly294=)
c.849C>G (p.Gly283=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189867838C>TCA437413180TP63c.888C>T (p.Gly296=)
c.606C>T (p.Gly202=)
c.351C>T (p.Gly117=)
n.712C>T
c.837C>T (p.Gly279=)
c.885C>T (p.Gly295=)
c.882C>T (p.Gly294=)
c.849C>T (p.Gly283=)
ClinVar
3g.189867839A>CCA355754818TP63c.889A>C (p.Thr297Pro)
c.607A>C (p.Thr203Pro)
c.352A>C (p.Thr118Pro)
n.713A>C
c.838A>C (p.Thr280Pro)
c.886A>C (p.Thr296Pro)
c.883A>C (p.Thr295Pro)
c.850A>C (p.Thr284Pro)
3g.189867839A>GCA355754820TP63c.889A>G (p.Thr297Ala)
c.607A>G (p.Thr203Ala)
c.352A>G (p.Thr118Ala)
n.713A>G
c.838A>G (p.Thr280Ala)
c.886A>G (p.Thr296Ala)
c.883A>G (p.Thr295Ala)
c.850A>G (p.Thr284Ala)
3g.189867839A>TCA355754821TP63c.889A>T (p.Thr297Ser)
c.607A>T (p.Thr203Ser)
c.352A>T (p.Thr118Ser)
n.713A>T
c.838A>T (p.Thr280Ser)
c.886A>T (p.Thr296Ser)
c.883A>T (p.Thr295Ser)
c.850A>T (p.Thr284Ser)
3g.189867840C>ACA355754823TP63c.890C>A (p.Thr297Asn)
c.608C>A (p.Thr203Asn)
c.353C>A (p.Thr118Asn)
n.714C>A
c.839C>A (p.Thr280Asn)
c.887C>A (p.Thr296Asn)
c.884C>A (p.Thr295Asn)
c.851C>A (p.Thr284Asn)
3g.189867840C>GCA355754826TP63c.890C>G (p.Thr297Ser)
c.608C>G (p.Thr203Ser)
c.353C>G (p.Thr118Ser)
n.714C>G
c.839C>G (p.Thr280Ser)
c.887C>G (p.Thr296Ser)
c.884C>G (p.Thr295Ser)
c.851C>G (p.Thr284Ser)
3g.189867840C>TCA355754824TP63c.890C>T (p.Thr297Ile)
c.608C>T (p.Thr203Ile)
c.353C>T (p.Thr118Ile)
n.714C>T
c.839C>T (p.Thr280Ile)
c.887C>T (p.Thr296Ile)
c.884C>T (p.Thr295Ile)
c.851C>T (p.Thr284Ile)
3g.189867841T>ACA2752294TP63c.891T>A (p.Thr297=)
c.609T>A (p.Thr203=)
c.354T>A (p.Thr118=)
n.715T>A
c.840T>A (p.Thr280=)
c.888T>A (p.Thr296=)
c.885T>A (p.Thr295=)
c.852T>A (p.Thr284=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189867841T>CCA437413181TP63c.891T>C (p.Thr297=)
c.609T>C (p.Thr203=)
c.354T>C (p.Thr118=)
n.715T>C
c.840T>C (p.Thr280=)
c.888T>C (p.Thr296=)
c.885T>C (p.Thr295=)
c.852T>C (p.Thr284=)
gnomAD v4
3g.189867841T>GCA437413182TP63c.891T>G (p.Thr297=)
c.609T>G (p.Thr203=)
c.354T>G (p.Thr118=)
n.715T>G
c.840T>G (p.Thr280=)
c.888T>G (p.Thr296=)
c.885T>G (p.Thr295=)
c.852T>G (p.Thr284=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189867841T=CA1428494510TP63c.891T= (p.Thr297=)
c.609T= (p.Thr203=)
c.354T= (p.Thr118=)
n.715T=
c.840T= (p.Thr280=)
c.888T= (p.Thr296=)
c.885T= (p.Thr295=)
c.852T= (p.Thr284=)
3g.189867842G>ACA355754828TP63c.892G>A (p.Glu298Lys)
c.610G>A (p.Glu204Lys)
c.355G>A (p.Glu119Lys)
n.716G>A
c.841G>A (p.Glu281Lys)
c.889G>A (p.Glu297Lys)
c.886G>A (p.Glu296Lys)
c.853G>A (p.Glu285Lys)
COSMIC COSMIC COSMIC
3g.189867842G>CCA355754829TP63c.892G>C (p.Glu298Gln)
c.610G>C (p.Glu204Gln)
c.355G>C (p.Glu119Gln)
n.716G>C
c.841G>C (p.Glu281Gln)
c.889G>C (p.Glu297Gln)
c.886G>C (p.Glu296Gln)
c.853G>C (p.Glu285Gln)
3g.189867842G>TCA355754831TP63c.892G>T (p.Glu298Ter)
c.610G>T (p.Glu204Ter)
c.355G>T (p.Glu119Ter)
n.716G>T
c.841G>T (p.Glu281Ter)
c.889G>T (p.Glu297Ter)
c.886G>T (p.Glu296Ter)
c.853G>T (p.Glu285Ter)
3g.189867843A>CCA355754833TP63c.893A>C (p.Glu298Ala)
c.611A>C (p.Glu204Ala)
c.356A>C (p.Glu119Ala)
n.717A>C
c.842A>C (p.Glu281Ala)
c.890A>C (p.Glu297Ala)
c.887A>C (p.Glu296Ala)
c.854A>C (p.Glu285Ala)
3g.189867843A>GCA355754834TP63c.893A>G (p.Glu298Gly)
c.611A>G (p.Glu204Gly)
c.356A>G (p.Glu119Gly)
n.717A>G
c.842A>G (p.Glu281Gly)
c.890A>G (p.Glu297Gly)
c.887A>G (p.Glu296Gly)
c.854A>G (p.Glu285Gly)
3g.189867843A>TCA355754836TP63c.893A>T (p.Glu298Val)
c.611A>T (p.Glu204Val)
c.356A>T (p.Glu119Val)
n.717A>T
c.842A>T (p.Glu281Val)
c.890A>T (p.Glu297Val)
c.887A>T (p.Glu296Val)
c.854A>T (p.Glu285Val)
3g.189867844A>CCA355754837TP63c.894A>C (p.Glu298Asp)
c.612A>C (p.Glu204Asp)
c.357A>C (p.Glu119Asp)
n.718A>C
c.843A>C (p.Glu281Asp)
c.891A>C (p.Glu297Asp)
c.888A>C (p.Glu296Asp)
c.855A>C (p.Glu285Asp)
3g.189867844A>GCA437413183TP63c.894A>G (p.Glu298=)
c.612A>G (p.Glu204=)
c.357A>G (p.Glu119=)
n.718A>G
c.843A>G (p.Glu281=)
c.891A>G (p.Glu297=)
c.888A>G (p.Glu296=)
c.855A>G (p.Glu285=)
ClinVar dbSNP
3g.189867844A>TCA355754839TP63c.894A>T (p.Glu298Asp)
c.612A>T (p.Glu204Asp)
c.357A>T (p.Glu119Asp)
n.718A>T
c.843A>T (p.Glu281Asp)
c.891A>T (p.Glu297Asp)
c.888A>T (p.Glu296Asp)
c.855A>T (p.Glu285Asp)
3g.189867845T>ACA355754840TP63c.895T>A (p.Phe299Ile)
c.613T>A (p.Phe205Ile)
c.358T>A (p.Phe120Ile)
n.719T>A
c.844T>A (p.Phe282Ile)
c.892T>A (p.Phe298Ile)
c.889T>A (p.Phe297Ile)
c.856T>A (p.Phe286Ile)
3g.189867845T>CCA355754842TP63c.895T>C (p.Phe299Leu)
c.613T>C (p.Phe205Leu)
c.358T>C (p.Phe120Leu)
n.719T>C
c.844T>C (p.Phe282Leu)
c.892T>C (p.Phe298Leu)
c.889T>C (p.Phe297Leu)
c.856T>C (p.Phe286Leu)
3g.189867845T>GCA355754843TP63c.895T>G (p.Phe299Val)
c.613T>G (p.Phe205Val)
c.358T>G (p.Phe120Val)
n.719T>G
c.844T>G (p.Phe282Val)
c.892T>G (p.Phe298Val)
c.889T>G (p.Phe297Val)
c.856T>G (p.Phe286Val)
3g.189867846T>ACA355754844TP63c.896T>A (p.Phe299Tyr)
c.614T>A (p.Phe205Tyr)
c.359T>A (p.Phe120Tyr)
n.720T>A
c.845T>A (p.Phe282Tyr)
c.893T>A (p.Phe298Tyr)
c.890T>A (p.Phe297Tyr)
c.857T>A (p.Phe286Tyr)
3g.189867846T>CCA355754847TP63c.896T>C (p.Phe299Ser)
c.614T>C (p.Phe205Ser)
c.359T>C (p.Phe120Ser)
n.720T>C
c.845T>C (p.Phe282Ser)
c.893T>C (p.Phe298Ser)
c.890T>C (p.Phe297Ser)
c.857T>C (p.Phe286Ser)
3g.189867846T>GCA355754845TP63c.896T>G (p.Phe299Cys)
c.614T>G (p.Phe205Cys)
c.359T>G (p.Phe120Cys)
n.720T>G
c.845T>G (p.Phe282Cys)
c.893T>G (p.Phe298Cys)
c.890T>G (p.Phe297Cys)
c.857T>G (p.Phe286Cys)
3g.189867847C>ACA355754849TP63c.897C>A (p.Phe299Leu)
c.615C>A (p.Phe205Leu)
c.360C>A (p.Phe120Leu)
n.721C>A
c.846C>A (p.Phe282Leu)
c.894C>A (p.Phe298Leu)
c.891C>A (p.Phe297Leu)
c.858C>A (p.Phe286Leu)
3g.189867847C>GCA355754850TP63c.897C>G (p.Phe299Leu)
c.615C>G (p.Phe205Leu)
c.360C>G (p.Phe120Leu)
n.721C>G
c.846C>G (p.Phe282Leu)
c.894C>G (p.Phe298Leu)
c.891C>G (p.Phe297Leu)
c.858C>G (p.Phe286Leu)
3g.189867847C>TCA437413184TP63c.897C>T (p.Phe299=)
c.615C>T (p.Phe205=)
c.360C>T (p.Phe120=)
n.721C>T
c.846C>T (p.Phe282=)
c.894C>T (p.Phe298=)
c.891C>T (p.Phe297=)
c.858C>T (p.Phe286=)
3g.189867848A>CCA355754852TP63c.898A>C (p.Thr300Pro)
c.616A>C (p.Thr206Pro)
c.361A>C (p.Thr121Pro)
n.722A>C
c.847A>C (p.Thr283Pro)
c.895A>C (p.Thr299Pro)
c.892A>C (p.Thr298Pro)
c.859A>C (p.Thr287Pro)
3g.189867848A>GCA355754854TP63c.898A>G (p.Thr300Ala)
c.616A>G (p.Thr206Ala)
c.361A>G (p.Thr121Ala)
n.722A>G
c.847A>G (p.Thr283Ala)
c.895A>G (p.Thr299Ala)
c.892A>G (p.Thr298Ala)
c.859A>G (p.Thr287Ala)
3g.189867848A>TCA355754856TP63c.898A>T (p.Thr300Ser)
c.616A>T (p.Thr206Ser)
c.361A>T (p.Thr121Ser)
n.722A>T
c.847A>T (p.Thr283Ser)
c.895A>T (p.Thr299Ser)
c.892A>T (p.Thr298Ser)
c.859A>T (p.Thr287Ser)
3g.189867849C>ACA10618212TP63c.899C>A (p.Thr300Lys)
c.617C>A (p.Thr206Lys)
c.362C>A (p.Thr121Lys)
n.723C>A
c.848C>A (p.Thr283Lys)
c.896C>A (p.Thr299Lys)
c.893C>A (p.Thr298Lys)
c.860C>A (p.Thr287Lys)
ClinVar dbSNP
3g.189867849C=CA1428494519TP63c.899C= (p.Thr300=)
c.617C= (p.Thr206=)
c.362C= (p.Thr121=)
n.723C=
c.848C= (p.Thr283=)
c.896C= (p.Thr299=)
c.893C= (p.Thr298=)
c.860C= (p.Thr287=)
3g.189867849C>GCA355754858TP63c.899C>G (p.Thr300Arg)
c.617C>G (p.Thr206Arg)
c.362C>G (p.Thr121Arg)
n.723C>G
c.848C>G (p.Thr283Arg)
c.896C>G (p.Thr299Arg)
c.893C>G (p.Thr298Arg)
c.860C>G (p.Thr287Arg)
3g.189867849C>TCA355754860TP63c.899C>T (p.Thr300Met)
c.617C>T (p.Thr206Met)
c.362C>T (p.Thr121Met)
n.723C>T
c.848C>T (p.Thr283Met)
c.896C>T (p.Thr299Met)
c.893C>T (p.Thr298Met)
c.860C>T (p.Thr287Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189867850G>ACA2752295TP63c.900G>A (p.Thr300=)
c.618G>A (p.Thr206=)
c.363G>A (p.Thr121=)
n.724G>A
c.849G>A (p.Thr283=)
c.897G>A (p.Thr299=)
c.894G>A (p.Thr298=)
c.861G>A (p.Thr287=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189867850G>CCA437413186TP63c.900G>C (p.Thr300=)
c.618G>C (p.Thr206=)
c.363G>C (p.Thr121=)
n.724G>C
c.849G>C (p.Thr283=)
c.897G>C (p.Thr299=)
c.894G>C (p.Thr298=)
c.861G>C (p.Thr287=)
dbSNP
3g.189867850G=CA1428494536TP63c.900G= (p.Thr300=)
c.618G= (p.Thr206=)
c.363G= (p.Thr121=)
n.724G=
c.849G= (p.Thr283=)
c.897G= (p.Thr299=)
c.894G= (p.Thr298=)
c.861G= (p.Thr287=)
3g.189867850G>TCA437413185TP63c.900G>T (p.Thr300=)
c.618G>T (p.Thr206=)
c.363G>T (p.Thr121=)
n.724G>T
c.849G>T (p.Thr283=)
c.897G>T (p.Thr299=)
c.894G>T (p.Thr298=)
c.861G>T (p.Thr287=)
gnomAD v4
3g.189867851A>CCA355754861TP63c.901A>C (p.Thr301Pro)
c.619A>C (p.Thr207Pro)
c.364A>C (p.Thr122Pro)
n.725A>C
c.850A>C (p.Thr284Pro)
c.898A>C (p.Thr300Pro)
c.895A>C (p.Thr299Pro)
c.862A>C (p.Thr288Pro)
3g.189867851A>GCA355754862TP63c.901A>G (p.Thr301Ala)
c.619A>G (p.Thr207Ala)
c.364A>G (p.Thr122Ala)
n.725A>G
c.850A>G (p.Thr284Ala)
c.898A>G (p.Thr300Ala)
c.895A>G (p.Thr299Ala)
c.862A>G (p.Thr288Ala)
gnomAD v4
3g.189867851A>TCA355754864TP63c.901A>T (p.Thr301Ser)
c.619A>T (p.Thr207Ser)
c.364A>T (p.Thr122Ser)
n.725A>T
c.850A>T (p.Thr284Ser)
c.898A>T (p.Thr300Ser)
c.895A>T (p.Thr299Ser)
c.862A>T (p.Thr288Ser)
3g.189867852C>ACA355754870TP63c.902C>A (p.Thr301Lys)
c.620C>A (p.Thr207Lys)
c.365C>A (p.Thr122Lys)
n.726C>A
c.851C>A (p.Thr284Lys)
c.899C>A (p.Thr300Lys)
c.896C>A (p.Thr299Lys)
c.863C>A (p.Thr288Lys)
3g.189867852C>GCA355754868TP63c.902C>G (p.Thr301Arg)
c.620C>G (p.Thr207Arg)
c.365C>G (p.Thr122Arg)
n.726C>G
c.851C>G (p.Thr284Arg)
c.899C>G (p.Thr300Arg)
c.896C>G (p.Thr299Arg)
c.863C>G (p.Thr288Arg)
3g.189867852C>TCA355754866TP63c.902C>T (p.Thr301Ile)
c.620C>T (p.Thr207Ile)
c.365C>T (p.Thr122Ile)
n.726C>T
c.851C>T (p.Thr284Ile)
c.899C>T (p.Thr300Ile)
c.896C>T (p.Thr299Ile)
c.863C>T (p.Thr288Ile)
3g.189867853A>CCA437413189TP63c.903A>C (p.Thr301=)
c.621A>C (p.Thr207=)
c.366A>C (p.Thr122=)
n.727A>C
c.852A>C (p.Thr284=)
c.900A>C (p.Thr300=)
c.897A>C (p.Thr299=)
c.864A>C (p.Thr288=)
3g.189867853A>GCA437413188TP63c.903A>G (p.Thr301=)
c.621A>G (p.Thr207=)
c.366A>G (p.Thr122=)
n.727A>G
c.852A>G (p.Thr284=)
c.900A>G (p.Thr300=)
c.897A>G (p.Thr299=)
c.864A>G (p.Thr288=)
3g.189867853A>TCA437413187TP63c.903A>T (p.Thr301=)
c.621A>T (p.Thr207=)
c.366A>T (p.Thr122=)
n.727A>T
c.852A>T (p.Thr284=)
c.900A>T (p.Thr300=)
c.897A>T (p.Thr299=)
c.864A>T (p.Thr288=)
3g.189867854G>ACA355754871TP63c.904G>A (p.Val302Ile)
c.622G>A (p.Val208Ile)
c.367G>A (p.Val123Ile)
n.728G>A
c.853G>A (p.Val285Ile)
c.901G>A (p.Val301Ile)
c.898G>A (p.Val300Ile)
c.865G>A (p.Val289Ile)
3g.189867854G>CCA355754873TP63c.904G>C (p.Val302Leu)
c.622G>C (p.Val208Leu)
c.367G>C (p.Val123Leu)
n.728G>C
c.853G>C (p.Val285Leu)
c.901G>C (p.Val301Leu)
c.898G>C (p.Val300Leu)
c.865G>C (p.Val289Leu)
3g.189867854G>TCA355754874TP63c.904G>T (p.Val302Phe)
c.622G>T (p.Val208Phe)
c.367G>T (p.Val123Phe)
n.728G>T
c.853G>T (p.Val285Phe)
c.901G>T (p.Val301Phe)
c.898G>T (p.Val300Phe)
c.865G>T (p.Val289Phe)
3g.189867855T>ACA355754876TP63c.905T>A (p.Val302Asp)
c.623T>A (p.Val208Asp)
c.368T>A (p.Val123Asp)
n.729T>A
c.854T>A (p.Val285Asp)
c.902T>A (p.Val301Asp)
c.899T>A (p.Val300Asp)
c.866T>A (p.Val289Asp)
3g.189867855T>CCA355754878TP63c.905T>C (p.Val302Ala)
c.623T>C (p.Val208Ala)
c.368T>C (p.Val123Ala)
n.729T>C
c.854T>C (p.Val285Ala)
c.902T>C (p.Val301Ala)
c.899T>C (p.Val300Ala)
c.866T>C (p.Val289Ala)
3g.189867855T>GCA355754880TP63c.905T>G (p.Val302Gly)
c.623T>G (p.Val208Gly)
c.368T>G (p.Val123Gly)
n.729T>G
c.854T>G (p.Val285Gly)
c.902T>G (p.Val301Gly)
c.899T>G (p.Val300Gly)
c.866T>G (p.Val289Gly)
3g.189867856C>ACA437413190TP63c.906C>A (p.Val302=)
c.624C>A (p.Val208=)
c.369C>A (p.Val123=)
n.730C>A
c.855C>A (p.Val285=)
c.903C>A (p.Val301=)
c.900C>A (p.Val300=)
c.867C>A (p.Val289=)
3g.189867856C>GCA437413192TP63c.906C>G (p.Val302=)
c.624C>G (p.Val208=)
c.369C>G (p.Val123=)
n.730C>G
c.855C>G (p.Val285=)
c.903C>G (p.Val301=)
c.900C>G (p.Val300=)
c.867C>G (p.Val289=)
3g.189867856C>TCA437413191TP63c.906C>T (p.Val302=)
c.624C>T (p.Val208=)
c.369C>T (p.Val123=)
n.730C>T
c.855C>T (p.Val285=)
c.903C>T (p.Val301=)
c.900C>T (p.Val300=)
c.867C>T (p.Val289=)
3g.189867857T>ACA355754881TP63c.907T>A (p.Leu303Met)
c.625T>A (p.Leu209Met)
c.370T>A (p.Leu124Met)
n.731T>A
c.856T>A (p.Leu286Met)
c.904T>A (p.Leu302Met)
c.901T>A (p.Leu301Met)
c.868T>A (p.Leu290Met)
3g.189867857T>CCA437413193TP63c.907T>C (p.Leu303=)
c.625T>C (p.Leu209=)
c.370T>C (p.Leu124=)
n.731T>C
c.856T>C (p.Leu286=)
c.904T>C (p.Leu302=)
c.901T>C (p.Leu301=)
c.868T>C (p.Leu290=)
3g.189867857T>GCA355754882TP63c.907T>G (p.Leu303Val)
c.625T>G (p.Leu209Val)
c.370T>G (p.Leu124Val)
n.731T>G
c.856T>G (p.Leu286Val)
c.904T>G (p.Leu302Val)
c.901T>G (p.Leu301Val)
c.868T>G (p.Leu290Val)
3g.189867858T>ACA355754883TP63c.908T>A (p.Leu303Ter)
c.626T>A (p.Leu209Ter)
c.371T>A (p.Leu124Ter)
n.732T>A
c.857T>A (p.Leu286Ter)
c.905T>A (p.Leu302Ter)
c.902T>A (p.Leu301Ter)
c.869T>A (p.Leu290Ter)
3g.189867858T>CCA355754884TP63c.908T>C (p.Leu303Ser)
c.626T>C (p.Leu209Ser)
c.371T>C (p.Leu124Ser)
n.732T>C
c.857T>C (p.Leu286Ser)
c.905T>C (p.Leu302Ser)
c.902T>C (p.Leu301Ser)
c.869T>C (p.Leu290Ser)
3g.189867858T>GCA355754885TP63c.908T>G (p.Leu303Trp)
c.626T>G (p.Leu209Trp)
c.371T>G (p.Leu124Trp)
n.732T>G
c.857T>G (p.Leu286Trp)
c.905T>G (p.Leu302Trp)
c.902T>G (p.Leu301Trp)
c.869T>G (p.Leu290Trp)
3g.189867859G>ACA89745734TP63c.909G>A (p.Leu303=)
c.627G>A (p.Leu209=)
c.372G>A (p.Leu124=)
n.733G>A
c.858G>A (p.Leu286=)
c.906G>A (p.Leu302=)
c.903G>A (p.Leu301=)
c.870G>A (p.Leu290=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189867859G>CCA355754886TP63c.909G>C (p.Leu303Phe)
c.627G>C (p.Leu209Phe)
c.372G>C (p.Leu124Phe)
n.733G>C
c.858G>C (p.Leu286Phe)
c.906G>C (p.Leu302Phe)
c.903G>C (p.Leu301Phe)
c.870G>C (p.Leu290Phe)
3g.189867859G=CA1428494546TP63c.909G= (p.Leu303=)
c.627G= (p.Leu209=)
c.372G= (p.Leu124=)
n.733G=
c.858G= (p.Leu286=)
c.906G= (p.Leu302=)
c.903G= (p.Leu301=)
c.870G= (p.Leu290=)
3g.189867859G>TCA355754887TP63c.909G>T (p.Leu303Phe)
c.627G>T (p.Leu209Phe)
c.372G>T (p.Leu124Phe)
n.733G>T
c.858G>T (p.Leu286Phe)
c.906G>T (p.Leu302Phe)
c.903G>T (p.Leu301Phe)
c.870G>T (p.Leu290Phe)
3g.189867860T>ACA355754889TP63c.910T>A (p.Tyr304Asn)
c.628T>A (p.Tyr210Asn)
c.373T>A (p.Tyr125Asn)
n.734T>A
c.859T>A (p.Tyr287Asn)
c.907T>A (p.Tyr303Asn)
c.904T>A (p.Tyr302Asn)
c.871T>A (p.Tyr291Asn)
3g.189867860T>CCA355754890TP63c.910T>C (p.Tyr304His)
c.628T>C (p.Tyr210His)
c.373T>C (p.Tyr125His)
n.734T>C
c.859T>C (p.Tyr287His)
c.907T>C (p.Tyr303His)
c.904T>C (p.Tyr302His)
c.871T>C (p.Tyr291His)
gnomAD v4
3g.189867860T>GCA355754888TP63c.910T>G (p.Tyr304Asp)
c.628T>G (p.Tyr210Asp)
c.373T>G (p.Tyr125Asp)
n.734T>G
c.859T>G (p.Tyr287Asp)
c.907T>G (p.Tyr303Asp)
c.904T>G (p.Tyr302Asp)
c.871T>G (p.Tyr291Asp)
3g.189867861A>CCA355754891TP63c.911A>C (p.Tyr304Ser)
c.629A>C (p.Tyr210Ser)
c.374A>C (p.Tyr125Ser)
n.735A>C
c.860A>C (p.Tyr287Ser)
c.908A>C (p.Tyr303Ser)
c.905A>C (p.Tyr302Ser)
c.872A>C (p.Tyr291Ser)
3g.189867861A>GCA355754893TP63c.911A>G (p.Tyr304Cys)
c.629A>G (p.Tyr210Cys)
c.374A>G (p.Tyr125Cys)
n.735A>G
c.860A>G (p.Tyr287Cys)
c.908A>G (p.Tyr303Cys)
c.905A>G (p.Tyr302Cys)
c.872A>G (p.Tyr291Cys)
gnomAD v4
3g.189867861A>TCA355754892TP63c.911A>T (p.Tyr304Phe)
c.629A>T (p.Tyr210Phe)
c.374A>T (p.Tyr125Phe)
n.735A>T
c.860A>T (p.Tyr287Phe)
c.908A>T (p.Tyr303Phe)
c.905A>T (p.Tyr302Phe)
c.872A>T (p.Tyr291Phe)
3g.189867862C>ACA355754894TP63c.912C>A (p.Tyr304Ter)
c.630C>A (p.Tyr210Ter)
c.375C>A (p.Tyr125Ter)
n.736C>A
c.861C>A (p.Tyr287Ter)
c.909C>A (p.Tyr303Ter)
c.906C>A (p.Tyr302Ter)
c.873C>A (p.Tyr291Ter)
3g.189867862C=CA1428494551TP63c.912C= (p.Tyr304=)
c.630C= (p.Tyr210=)
c.375C= (p.Tyr125=)
n.736C=
c.861C= (p.Tyr287=)
c.909C= (p.Tyr303=)
c.906C= (p.Tyr302=)
c.873C= (p.Tyr291=)
3g.189867862C>GCA355754895TP63c.912C>G (p.Tyr304Ter)
c.630C>G (p.Tyr210Ter)
c.375C>G (p.Tyr125Ter)
n.736C>G
c.861C>G (p.Tyr287Ter)
c.909C>G (p.Tyr303Ter)
c.906C>G (p.Tyr302Ter)
c.873C>G (p.Tyr291Ter)
3g.189867862C>TCA89745749TP63c.912C>T (p.Tyr304=)
c.630C>T (p.Tyr210=)
c.375C>T (p.Tyr125=)
n.736C>T
c.861C>T (p.Tyr287=)
c.909C>T (p.Tyr303=)
c.906C>T (p.Tyr302=)
c.873C>T (p.Tyr291=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189867863A>CCA355754896TP63c.913A>C (p.Asn305His)
c.631A>C (p.Asn211His)
c.376A>C (p.Asn126His)
n.737A>C
c.862A>C (p.Asn288His)
c.910A>C (p.Asn304His)
c.907A>C (p.Asn303His)
c.874A>C (p.Asn292His)
3g.189867863A>GCA355754897TP63c.913A>G (p.Asn305Asp)
c.631A>G (p.Asn211Asp)
c.376A>G (p.Asn126Asp)
n.737A>G
c.862A>G (p.Asn288Asp)
c.910A>G (p.Asn304Asp)
c.907A>G (p.Asn303Asp)
c.874A>G (p.Asn292Asp)
3g.189867863A>TCA355754898TP63c.913A>T (p.Asn305Tyr)
c.631A>T (p.Asn211Tyr)
c.376A>T (p.Asn126Tyr)
n.737A>T
c.862A>T (p.Asn288Tyr)
c.910A>T (p.Asn304Tyr)
c.907A>T (p.Asn303Tyr)
c.874A>T (p.Asn292Tyr)
3g.189867864A>CCA355754901TP63c.914A>C (p.Asn305Thr)
c.632A>C (p.Asn211Thr)
c.377A>C (p.Asn126Thr)
n.738A>C
c.863A>C (p.Asn288Thr)
c.911A>C (p.Asn304Thr)
c.908A>C (p.Asn303Thr)
c.875A>C (p.Asn292Thr)
3g.189867864A>GCA355754899TP63c.914A>G (p.Asn305Ser)
c.632A>G (p.Asn211Ser)
c.377A>G (p.Asn126Ser)
n.738A>G
c.863A>G (p.Asn288Ser)
c.911A>G (p.Asn304Ser)
c.908A>G (p.Asn303Ser)
c.875A>G (p.Asn292Ser)
3g.189867864A>TCA355754900TP63c.914A>T (p.Asn305Ile)
c.632A>T (p.Asn211Ile)
c.377A>T (p.Asn126Ile)
n.738A>T
c.863A>T (p.Asn288Ile)
c.911A>T (p.Asn304Ile)
c.908A>T (p.Asn303Ile)
c.875A>T (p.Asn292Ile)
3g.189867865T>ACA355754902TP63c.915T>A (p.Asn305Lys)
c.633T>A (p.Asn211Lys)
c.378T>A (p.Asn126Lys)
n.739T>A
c.864T>A (p.Asn288Lys)
c.912T>A (p.Asn304Lys)
c.909T>A (p.Asn303Lys)
c.876T>A (p.Asn292Lys)
ClinVar
3g.189867865T>CCA437413194TP63c.915T>C (p.Asn305=)
c.633T>C (p.Asn211=)
c.378T>C (p.Asn126=)
n.739T>C
c.864T>C (p.Asn288=)
c.912T>C (p.Asn304=)
c.909T>C (p.Asn303=)
c.876T>C (p.Asn292=)
gnomAD v4
3g.189867865T>GCA355754903TP63c.915T>G (p.Asn305Lys)
c.633T>G (p.Asn211Lys)
c.378T>G (p.Asn126Lys)
n.739T>G
c.864T>G (p.Asn288Lys)
c.912T>G (p.Asn304Lys)
c.909T>G (p.Asn303Lys)
c.876T>G (p.Asn292Lys)
3g.189867866T>ACA355754904TP63c.916T>A (p.Phe306Ile)
c.634T>A (p.Phe212Ile)
c.379T>A (p.Phe127Ile)
n.740T>A
c.865T>A (p.Phe289Ile)
c.913T>A (p.Phe305Ile)
c.910T>A (p.Phe304Ile)
c.877T>A (p.Phe293Ile)
3g.189867866T>CCA355754905TP63c.916T>C (p.Phe306Leu)
c.634T>C (p.Phe212Leu)
c.379T>C (p.Phe127Leu)
n.740T>C
c.865T>C (p.Phe289Leu)
c.913T>C (p.Phe305Leu)
c.910T>C (p.Phe304Leu)
c.877T>C (p.Phe293Leu)
3g.189867866T>GCA355754906TP63c.916T>G (p.Phe306Val)
c.634T>G (p.Phe212Val)
c.379T>G (p.Phe127Val)
n.740T>G
c.865T>G (p.Phe289Val)
c.913T>G (p.Phe305Val)
c.910T>G (p.Phe304Val)
c.877T>G (p.Phe293Val)
3g.189867867T>ACA355754909TP63c.917T>A (p.Phe306Tyr)
c.635T>A (p.Phe212Tyr)
c.380T>A (p.Phe127Tyr)
n.741T>A
c.866T>A (p.Phe289Tyr)
c.914T>A (p.Phe305Tyr)
c.911T>A (p.Phe304Tyr)
c.878T>A (p.Phe293Tyr)
3g.189867867T>CCA355754907TP63c.917T>C (p.Phe306Ser)
c.635T>C (p.Phe212Ser)
c.380T>C (p.Phe127Ser)
n.741T>C
c.866T>C (p.Phe289Ser)
c.914T>C (p.Phe305Ser)
c.911T>C (p.Phe304Ser)
c.878T>C (p.Phe293Ser)
3g.189867867T>GCA355754908TP63c.917T>G (p.Phe306Cys)
c.635T>G (p.Phe212Cys)
c.380T>G (p.Phe127Cys)
n.741T>G
c.866T>G (p.Phe289Cys)
c.914T>G (p.Phe305Cys)
c.911T>G (p.Phe304Cys)
c.878T>G (p.Phe293Cys)
3g.189867868C>ACA355754910TP63c.918C>A (p.Phe306Leu)
c.636C>A (p.Phe212Leu)
c.381C>A (p.Phe127Leu)
n.742C>A
c.867C>A (p.Phe289Leu)
c.915C>A (p.Phe305Leu)
c.912C>A (p.Phe304Leu)
c.879C>A (p.Phe293Leu)
3g.189867868C=CA1428494558TP63c.918C= (p.Phe306=)
c.636C= (p.Phe212=)
c.381C= (p.Phe127=)
n.742C=
c.867C= (p.Phe289=)
c.915C= (p.Phe305=)
c.912C= (p.Phe304=)
c.879C= (p.Phe293=)
3g.189867868C>GCA355754911TP63c.918C>G (p.Phe306Leu)
c.636C>G (p.Phe212Leu)
c.381C>G (p.Phe127Leu)
n.742C>G
c.867C>G (p.Phe289Leu)
c.915C>G (p.Phe305Leu)
c.912C>G (p.Phe304Leu)
c.879C>G (p.Phe293Leu)
3g.189867868C>TCA2752296TP63c.918C>T (p.Phe306=)
c.636C>T (p.Phe212=)
c.381C>T (p.Phe127=)
n.742C>T
c.867C>T (p.Phe289=)
c.915C>T (p.Phe305=)
c.912C>T (p.Phe304=)
c.879C>T (p.Phe293=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189867869A>CCA355754912TP63c.919A>C (p.Met307Leu)
c.637A>C (p.Met213Leu)
c.382A>C (p.Met128Leu)
n.743A>C
c.868A>C (p.Met290Leu)
c.916A>C (p.Met306Leu)
c.913A>C (p.Met305Leu)
c.880A>C (p.Met294Leu)
gnomAD v4
3g.189867869A>GCA355754913TP63c.919A>G (p.Met307Val)
c.637A>G (p.Met213Val)
c.382A>G (p.Met128Val)
n.743A>G
c.868A>G (p.Met290Val)
c.916A>G (p.Met306Val)
c.913A>G (p.Met305Val)
c.880A>G (p.Met294Val)
gnomAD v4
3g.189867869A>TCA355754914TP63c.919A>T (p.Met307Leu)
c.637A>T (p.Met213Leu)
c.382A>T (p.Met128Leu)
n.743A>T
c.868A>T (p.Met290Leu)
c.916A>T (p.Met306Leu)
c.913A>T (p.Met305Leu)
c.880A>T (p.Met294Leu)
3g.189867870T>ACA355754915TP63c.920T>A (p.Met307Lys)
c.638T>A (p.Met213Lys)
c.383T>A (p.Met128Lys)
n.744T>A
c.869T>A (p.Met290Lys)
c.917T>A (p.Met306Lys)
c.914T>A (p.Met305Lys)
c.881T>A (p.Met294Lys)
dbSNP
3g.189867870T>CCA355754916TP63c.920T>C (p.Met307Thr)
c.638T>C (p.Met213Thr)
c.383T>C (p.Met128Thr)
n.744T>C
c.869T>C (p.Met290Thr)
c.917T>C (p.Met306Thr)
c.914T>C (p.Met305Thr)
c.881T>C (p.Met294Thr)
3g.189867870T>GCA355754917TP63c.920T>G (p.Met307Arg)
c.638T>G (p.Met213Arg)
c.383T>G (p.Met128Arg)
n.744T>G
c.869T>G (p.Met290Arg)
c.917T>G (p.Met306Arg)
c.914T>G (p.Met305Arg)
c.881T>G (p.Met294Arg)
3g.189867870T=CA1428494565TP63c.920T= (p.Met307=)
c.638T= (p.Met213=)
c.383T= (p.Met128=)
n.744T=
c.869T= (p.Met290=)
c.917T= (p.Met306=)
c.914T= (p.Met305=)
c.881T= (p.Met294=)
3g.189867871G>ACA355754918TP63c.921G>A (p.Met307Ile)
c.639G>A (p.Met213Ile)
c.384G>A (p.Met128Ile)
n.745G>A
c.870G>A (p.Met290Ile)
c.918G>A (p.Met306Ile)
c.915G>A (p.Met305Ile)
c.882G>A (p.Met294Ile)
3g.189867871G>CCA355754919TP63c.921G>C (p.Met307Ile)
c.639G>C (p.Met213Ile)
c.384G>C (p.Met128Ile)
n.745G>C
c.870G>C (p.Met290Ile)
c.918G>C (p.Met306Ile)
c.915G>C (p.Met305Ile)
c.882G>C (p.Met294Ile)
3g.189867871G>TCA355754920TP63c.921G>T (p.Met307Ile)
c.639G>T (p.Met213Ile)
c.384G>T (p.Met128Ile)
n.745G>T
c.870G>T (p.Met290Ile)
c.918G>T (p.Met306Ile)
c.915G>T (p.Met305Ile)
c.882G>T (p.Met294Ile)
3g.189867872T>ACA355754921TP63c.922T>A (p.Cys308Ser)
c.640T>A (p.Cys214Ser)
c.385T>A (p.Cys129Ser)
n.746T>A
c.871T>A (p.Cys291Ser)
c.919T>A (p.Cys307Ser)
c.916T>A (p.Cys306Ser)
c.883T>A (p.Cys295Ser)
3g.189867872T>CCA355754923TP63c.922T>C (p.Cys308Arg)
c.640T>C (p.Cys214Arg)
c.385T>C (p.Cys129Arg)
n.746T>C
c.871T>C (p.Cys291Arg)
c.919T>C (p.Cys307Arg)
c.916T>C (p.Cys306Arg)
c.883T>C (p.Cys295Arg)
3g.189867872T>GCA355754922TP63c.922T>G (p.Cys308Gly)
c.640T>G (p.Cys214Gly)
c.385T>G (p.Cys129Gly)
n.746T>G
c.871T>G (p.Cys291Gly)
c.919T>G (p.Cys307Gly)
c.916T>G (p.Cys306Gly)
c.883T>G (p.Cys295Gly)
3g.189867873G>ACA355754924TP63c.923G>A (p.Cys308Tyr)
c.641G>A (p.Cys214Tyr)
c.386G>A (p.Cys129Tyr)
n.747G>A
c.872G>A (p.Cys291Tyr)
c.920G>A (p.Cys307Tyr)
c.917G>A (p.Cys306Tyr)
c.884G>A (p.Cys295Tyr)
dbSNP
3g.189867873G>CCA355754925TP63c.923G>C (p.Cys308Ser)
c.641G>C (p.Cys214Ser)
c.386G>C (p.Cys129Ser)
n.747G>C
c.872G>C (p.Cys291Ser)
c.920G>C (p.Cys307Ser)
c.917G>C (p.Cys306Ser)
c.884G>C (p.Cys295Ser)
3g.189867873G=CA1428494575TP63c.923G= (p.Cys308=)
c.641G= (p.Cys214=)
c.386G= (p.Cys129=)
n.747G=
c.872G= (p.Cys291=)
c.920G= (p.Cys307=)
c.917G= (p.Cys306=)
c.884G= (p.Cys295=)
3g.189867873G>TCA355754926TP63c.923G>T (p.Cys308Phe)
c.641G>T (p.Cys214Phe)
c.386G>T (p.Cys129Phe)
n.747G>T
c.872G>T (p.Cys291Phe)
c.920G>T (p.Cys307Phe)
c.917G>T (p.Cys306Phe)
c.884G>T (p.Cys295Phe)
3g.189867874T>ACA355754927TP63c.924T>A (p.Cys308Ter)
c.642T>A (p.Cys214Ter)
c.387T>A (p.Cys129Ter)
n.748T>A
c.873T>A (p.Cys291Ter)
c.921T>A (p.Cys307Ter)
c.918T>A (p.Cys306Ter)
c.885T>A (p.Cys295Ter)
3g.189867874T>CCA437413195TP63c.924T>C (p.Cys308=)
c.642T>C (p.Cys214=)
c.387T>C (p.Cys129=)
n.748T>C
c.873T>C (p.Cys291=)
c.921T>C (p.Cys307=)
c.918T>C (p.Cys306=)
c.885T>C (p.Cys295=)
gnomAD v4
3g.189867874T>GCA355754928TP63c.924T>G (p.Cys308Trp)
c.642T>G (p.Cys214Trp)
c.387T>G (p.Cys129Trp)
n.748T>G
c.873T>G (p.Cys291Trp)
c.921T>G (p.Cys307Trp)
c.918T>G (p.Cys306Trp)
c.885T>G (p.Cys295Trp)
3g.189867875A>CCA355754929TP63c.925A>C (p.Asn309His)
c.643A>C (p.Asn215His)
c.388A>C (p.Asn130His)
n.749A>C
c.874A>C (p.Asn292His)
c.922A>C (p.Asn308His)
c.919A>C (p.Asn307His)
c.886A>C (p.Asn296His)
3g.189867875A>GCA355754930TP63c.925A>G (p.Asn309Asp)
c.643A>G (p.Asn215Asp)
c.388A>G (p.Asn130Asp)
n.749A>G
c.874A>G (p.Asn292Asp)
c.922A>G (p.Asn308Asp)
c.919A>G (p.Asn307Asp)
c.886A>G (p.Asn296Asp)
ClinVar
3g.189867875A>TCA355754931TP63c.925A>T (p.Asn309Tyr)
c.643A>T (p.Asn215Tyr)
c.388A>T (p.Asn130Tyr)
n.749A>T
c.874A>T (p.Asn292Tyr)
c.922A>T (p.Asn308Tyr)
c.919A>T (p.Asn307Tyr)
c.886A>T (p.Asn296Tyr)
3g.189867876A>CCA355754932TP63c.926A>C (p.Asn309Thr)
c.644A>C (p.Asn215Thr)
c.389A>C (p.Asn130Thr)
n.750A>C
c.875A>C (p.Asn292Thr)
c.923A>C (p.Asn308Thr)
c.920A>C (p.Asn307Thr)
c.887A>C (p.Asn296Thr)
3g.189867876A>GCA355754933TP63c.926A>G (p.Asn309Ser)
c.644A>G (p.Asn215Ser)
c.389A>G (p.Asn130Ser)
n.750A>G
c.875A>G (p.Asn292Ser)
c.923A>G (p.Asn308Ser)
c.920A>G (p.Asn307Ser)
c.887A>G (p.Asn296Ser)
ClinVar COSMIC COSMIC COSMIC
3g.189867876A>TCA355754934TP63c.926A>T (p.Asn309Ile)
c.644A>T (p.Asn215Ile)
c.389A>T (p.Asn130Ile)
n.750A>T
c.875A>T (p.Asn292Ile)
c.923A>T (p.Asn308Ile)
c.920A>T (p.Asn307Ile)
c.887A>T (p.Asn296Ile)
3g.189867876_189867879delinsACAGCA1428494579TP63c.926_929delinsACAG (p.Asn309=)
c.644_647delinsACAG (p.Asn215=)
c.389_392delinsACAG (p.Asn130=)
n.750_753delinsACAG
c.875_878delinsACAG (p.Asn292=)
c.923_926delinsACAG (p.Asn308=)
c.920_923delinsACAG (p.Asn307=)
c.887_890delinsACAG (p.Asn296=)
3g.189867877C>ACA355754935TP63c.927C>A (p.Asn309Lys)
c.645C>A (p.Asn215Lys)
c.390C>A (p.Asn130Lys)
n.751C>A
c.876C>A (p.Asn292Lys)
c.924C>A (p.Asn308Lys)
c.921C>A (p.Asn307Lys)
c.888C>A (p.Asn296Lys)
3g.189867877C=CA1428494585TP63c.927C= (p.Asn309=)
c.645C= (p.Asn215=)
c.390C= (p.Asn130=)
n.751C=
c.876C= (p.Asn292=)
c.924C= (p.Asn308=)
c.921C= (p.Asn307=)
c.888C= (p.Asn296=)
3g.189867877C>GCA355754936TP63c.927C>G (p.Asn309Lys)
c.645C>G (p.Asn215Lys)
c.390C>G (p.Asn130Lys)
n.751C>G
c.876C>G (p.Asn292Lys)
c.924C>G (p.Asn308Lys)
c.921C>G (p.Asn307Lys)
c.888C>G (p.Asn296Lys)
3g.189867877C>TCA437413196TP63c.927C>T (p.Asn309=)
c.645C>T (p.Asn215=)
c.390C>T (p.Asn130=)
n.751C>T
c.876C>T (p.Asn292=)
c.924C>T (p.Asn308=)
c.921C>T (p.Asn307=)
c.888C>T (p.Asn296=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189867880_189867882delCA915943007TP63c.930_932del (p.Ser311del)
c.648_650del (p.Ser217del)
c.393_395del (p.Ser132del)
n.754_756del
c.879_881del (p.Ser294del)
c.927_929del (p.Ser310del)
c.924_926del (p.Ser309del)
c.891_893del (p.Ser298del)
ClinVar dbSNP
3g.189867878A>CCA355754937TP63c.928A>C (p.Ser310Arg)
c.646A>C (p.Ser216Arg)
c.391A>C (p.Ser131Arg)
n.752A>C
c.877A>C (p.Ser293Arg)
c.925A>C (p.Ser309Arg)
c.922A>C (p.Ser308Arg)
c.889A>C (p.Ser297Arg)
3g.189867878A>GCA355754939TP63c.928A>G (p.Ser310Gly)
c.646A>G (p.Ser216Gly)
c.391A>G (p.Ser131Gly)
n.752A>G
c.877A>G (p.Ser293Gly)
c.925A>G (p.Ser309Gly)
c.922A>G (p.Ser308Gly)
c.889A>G (p.Ser297Gly)
3g.189867878A>TCA355754938TP63c.928A>T (p.Ser310Cys)
c.646A>T (p.Ser216Cys)
c.391A>T (p.Ser131Cys)
n.752A>T
c.877A>T (p.Ser293Cys)
c.925A>T (p.Ser309Cys)
c.922A>T (p.Ser308Cys)
c.889A>T (p.Ser297Cys)
3g.189867879G>ACA355754940TP63c.929G>A (p.Ser310Asn)
c.647G>A (p.Ser216Asn)
c.392G>A (p.Ser131Asn)
n.753G>A
c.878G>A (p.Ser293Asn)
c.926G>A (p.Ser309Asn)
c.923G>A (p.Ser308Asn)
c.890G>A (p.Ser297Asn)
ClinVar dbSNP
3g.189867879G>CCA355754941TP63c.929G>C (p.Ser310Thr)
c.647G>C (p.Ser216Thr)
c.392G>C (p.Ser131Thr)
n.753G>C
c.878G>C (p.Ser293Thr)
c.926G>C (p.Ser309Thr)
c.923G>C (p.Ser308Thr)
c.890G>C (p.Ser297Thr)
3g.189867879G>TCA355754942TP63c.929G>T (p.Ser310Ile)
c.647G>T (p.Ser216Ile)
c.392G>T (p.Ser131Ile)
n.753G>T
c.878G>T (p.Ser293Ile)
c.926G>T (p.Ser309Ile)
c.923G>T (p.Ser308Ile)
c.890G>T (p.Ser297Ile)
3g.189867880C>ACA355754943TP63c.930C>A (p.Ser310Arg)
c.648C>A (p.Ser216Arg)
c.393C>A (p.Ser131Arg)
n.754C>A
c.879C>A (p.Ser293Arg)
c.927C>A (p.Ser309Arg)
c.924C>A (p.Ser308Arg)
c.891C>A (p.Ser297Arg)
gnomAD v4
3g.189867880C>GCA355754944TP63c.930C>G (p.Ser310Arg)
c.648C>G (p.Ser216Arg)
c.393C>G (p.Ser131Arg)
n.754C>G
c.879C>G (p.Ser293Arg)
c.927C>G (p.Ser309Arg)
c.924C>G (p.Ser308Arg)
c.891C>G (p.Ser297Arg)
3g.189867880C>TCA437413197TP63c.930C>T (p.Ser310=)
c.648C>T (p.Ser216=)
c.393C>T (p.Ser131=)
n.754C>T
c.879C>T (p.Ser293=)
c.927C>T (p.Ser309=)
c.924C>T (p.Ser308=)
c.891C>T (p.Ser297=)
3g.189867881A>CCA355754945TP63c.931A>C (p.Ser311Arg)
c.649A>C (p.Ser217Arg)
c.394A>C (p.Ser132Arg)
n.755A>C
c.880A>C (p.Ser294Arg)
c.928A>C (p.Ser310Arg)
c.925A>C (p.Ser309Arg)
c.892A>C (p.Ser298Arg)
3g.189867881A>GCA355754946TP63c.931A>G (p.Ser311Gly)
c.649A>G (p.Ser217Gly)
c.394A>G (p.Ser132Gly)
n.755A>G
c.880A>G (p.Ser294Gly)
c.928A>G (p.Ser310Gly)
c.925A>G (p.Ser309Gly)
c.892A>G (p.Ser298Gly)
3g.189867881A>TCA355754947TP63c.931A>T (p.Ser311Cys)
c.649A>T (p.Ser217Cys)
c.394A>T (p.Ser132Cys)
n.755A>T
c.880A>T (p.Ser294Cys)
c.928A>T (p.Ser310Cys)
c.925A>T (p.Ser309Cys)
c.892A>T (p.Ser298Cys)
3g.189867882G>ACA355754948TP63c.932G>A (p.Ser311Asn)
c.650G>A (p.Ser217Asn)
c.395G>A (p.Ser132Asn)
n.756G>A
c.881G>A (p.Ser294Asn)
c.929G>A (p.Ser310Asn)
c.926G>A (p.Ser309Asn)
c.893G>A (p.Ser298Asn)
ClinVar
3g.189867882G>CCA355754949TP63c.932G>C (p.Ser311Thr)
c.650G>C (p.Ser217Thr)
c.395G>C (p.Ser132Thr)
n.756G>C
c.881G>C (p.Ser294Thr)
c.929G>C (p.Ser310Thr)
c.926G>C (p.Ser309Thr)
c.893G>C (p.Ser298Thr)
3g.189867882G>TCA355754950TP63c.932G>T (p.Ser311Ile)
c.650G>T (p.Ser217Ile)
c.395G>T (p.Ser132Ile)
n.756G>T
c.881G>T (p.Ser294Ile)
c.929G>T (p.Ser310Ile)
c.926G>T (p.Ser309Ile)
c.893G>T (p.Ser298Ile)
3g.189867883T>ACA355754951TP63c.933T>A (p.Ser311Arg)
c.651T>A (p.Ser217Arg)
c.396T>A (p.Ser132Arg)
n.757T>A
c.882T>A (p.Ser294Arg)
c.930T>A (p.Ser310Arg)
c.927T>A (p.Ser309Arg)
c.894T>A (p.Ser298Arg)
3g.189867883T>CCA437413198TP63c.933T>C (p.Ser311=)
c.651T>C (p.Ser217=)
c.396T>C (p.Ser132=)
n.757T>C
c.882T>C (p.Ser294=)
c.930T>C (p.Ser310=)
c.927T>C (p.Ser309=)
c.894T>C (p.Ser298=)
3g.189867883T>GCA355754952TP63c.933T>G (p.Ser311Arg)
c.651T>G (p.Ser217Arg)
c.396T>G (p.Ser132Arg)
n.757T>G
c.882T>G (p.Ser294Arg)
c.930T>G (p.Ser310Arg)
c.927T>G (p.Ser309Arg)
c.894T>G (p.Ser298Arg)
3g.189867884T>ACA355754953TP63c.934T>A (p.Cys312Ser)
c.652T>A (p.Cys218Ser)
c.397T>A (p.Cys133Ser)
n.758T>A
c.883T>A (p.Cys295Ser)
c.931T>A (p.Cys311Ser)
c.928T>A (p.Cys310Ser)
c.895T>A (p.Cys299Ser)
3g.189867884T>CCA355754955TP63c.934T>C (p.Cys312Arg)
c.652T>C (p.Cys218Arg)
c.397T>C (p.Cys133Arg)
n.758T>C
c.883T>C (p.Cys295Arg)
c.931T>C (p.Cys311Arg)
c.928T>C (p.Cys310Arg)
c.895T>C (p.Cys299Arg)
3g.189867884T>GCA355754954TP63c.934T>G (p.Cys312Gly)
c.652T>G (p.Cys218Gly)
c.397T>G (p.Cys133Gly)
n.758T>G
c.883T>G (p.Cys295Gly)
c.931T>G (p.Cys311Gly)
c.928T>G (p.Cys310Gly)
c.895T>G (p.Cys299Gly)
ClinVar
3g.189867885G>ACA16604844TP63c.935G>A (p.Cys312Tyr)
c.653G>A (p.Cys218Tyr)
c.398G>A (p.Cys133Tyr)
n.759G>A
c.884G>A (p.Cys295Tyr)
c.932G>A (p.Cys311Tyr)
c.929G>A (p.Cys310Tyr)
c.896G>A (p.Cys299Tyr)
ClinVar dbSNP
3g.189867885G>CCA355754956TP63c.935G>C (p.Cys312Ser)
c.653G>C (p.Cys218Ser)
c.398G>C (p.Cys133Ser)
n.759G>C
c.884G>C (p.Cys295Ser)
c.932G>C (p.Cys311Ser)
c.929G>C (p.Cys310Ser)
c.896G>C (p.Cys299Ser)
3g.189867885G=CA1428494594TP63c.935G= (p.Cys312=)
c.653G= (p.Cys218=)
c.398G= (p.Cys133=)
n.759G=
c.884G= (p.Cys295=)
c.932G= (p.Cys311=)
c.929G= (p.Cys310=)
c.896G= (p.Cys299=)
3g.189867885G>TCA355754957TP63c.935G>T (p.Cys312Phe)
c.653G>T (p.Cys218Phe)
c.398G>T (p.Cys133Phe)
n.759G>T
c.884G>T (p.Cys295Phe)
c.932G>T (p.Cys311Phe)
c.929G>T (p.Cys310Phe)
c.896G>T (p.Cys299Phe)
ClinVar dbSNP
3g.189867886T>ACA355754958TP63c.936T>A (p.Cys312Ter)
c.654T>A (p.Cys218Ter)
c.399T>A (p.Cys133Ter)
n.760T>A
c.885T>A (p.Cys295Ter)
c.933T>A (p.Cys311Ter)
c.930T>A (p.Cys310Ter)
c.897T>A (p.Cys299Ter)
3g.189867886T>CCA437413199TP63c.936T>C (p.Cys312=)
c.654T>C (p.Cys218=)
c.399T>C (p.Cys133=)
n.760T>C
c.885T>C (p.Cys295=)
c.933T>C (p.Cys311=)
c.930T>C (p.Cys310=)
c.897T>C (p.Cys299=)
ClinVar dbSNP
3g.189867886T>GCA355754959TP63c.936T>G (p.Cys312Trp)
c.654T>G (p.Cys218Trp)
c.399T>G (p.Cys133Trp)
n.760T>G
c.885T>G (p.Cys295Trp)
c.933T>G (p.Cys311Trp)
c.930T>G (p.Cys310Trp)
c.897T>G (p.Cys299Trp)
3g.189867887G>ACA2752297TP63c.937G>A (p.Val313Ile)
c.655G>A (p.Val219Ile)
c.400G>A (p.Val134Ile)
n.761G>A
c.886G>A (p.Val296Ile)
c.934G>A (p.Val312Ile)
c.931G>A (p.Val311Ile)
c.898G>A (p.Val300Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.189867887G>CCA355754960TP63c.937G>C (p.Val313Leu)
c.655G>C (p.Val219Leu)
c.400G>C (p.Val134Leu)
n.761G>C
c.886G>C (p.Val296Leu)
c.934G>C (p.Val312Leu)
c.931G>C (p.Val311Leu)
c.898G>C (p.Val300Leu)
3g.189867887G=CA1428494598TP63c.937G= (p.Val313=)
c.655G= (p.Val219=)
c.400G= (p.Val134=)
n.761G=
c.886G= (p.Val296=)
c.934G= (p.Val312=)
c.931G= (p.Val311=)
c.898G= (p.Val300=)
3g.189867887G>TCA355754961TP63c.937G>T (p.Val313Phe)
c.655G>T (p.Val219Phe)
c.400G>T (p.Val134Phe)
n.761G>T
c.886G>T (p.Val296Phe)
c.934G>T (p.Val312Phe)
c.931G>T (p.Val311Phe)
c.898G>T (p.Val300Phe)
dbSNP
3g.189867888T>ACA355754962TP63c.938T>A (p.Val313Asp)
c.656T>A (p.Val219Asp)
c.401T>A (p.Val134Asp)
n.762T>A
c.887T>A (p.Val296Asp)
c.935T>A (p.Val312Asp)
c.932T>A (p.Val311Asp)
c.899T>A (p.Val300Asp)
3g.189867888T>CCA355754963TP63c.938T>C (p.Val313Ala)
c.656T>C (p.Val219Ala)
c.401T>C (p.Val134Ala)
n.762T>C
c.887T>C (p.Val296Ala)
c.935T>C (p.Val312Ala)
c.932T>C (p.Val311Ala)
c.899T>C (p.Val300Ala)
3g.189867888T>GCA355754964TP63c.938T>G (p.Val313Gly)
c.656T>G (p.Val219Gly)
c.401T>G (p.Val134Gly)
n.762T>G
c.887T>G (p.Val296Gly)
c.935T>G (p.Val312Gly)
c.932T>G (p.Val311Gly)
c.899T>G (p.Val300Gly)
3g.189867889T>ACA437413200TP63c.939T>A (p.Val313=)
c.657T>A (p.Val219=)
c.402T>A (p.Val134=)
n.763T>A
c.888T>A (p.Val296=)
c.936T>A (p.Val312=)
c.933T>A (p.Val311=)
c.900T>A (p.Val300=)
3g.189867889T>CCA437413201TP63c.939T>C (p.Val313=)
c.657T>C (p.Val219=)
c.402T>C (p.Val134=)
n.763T>C
c.888T>C (p.Val296=)
c.936T>C (p.Val312=)
c.933T>C (p.Val311=)
c.900T>C (p.Val300=)
3g.189867889T>GCA437413202TP63c.939T>G (p.Val313=)
c.657T>G (p.Val219=)
c.402T>G (p.Val134=)
n.763T>G
c.888T>G (p.Val296=)
c.936T>G (p.Val312=)
c.933T>G (p.Val311=)
c.900T>G (p.Val300=)
3g.189867889_189867892delinsTGGACA1428494605TP63c.939_942delinsTGGA (p.Val313=)
c.657_660delinsTGGA (p.Val219=)
c.402_405delinsTGGA (p.Val134=)
n.763_766delinsTGGA
c.888_891delinsTGGA (p.Val296=)
c.936_939delinsTGGA (p.Val312=)
c.933_936delinsTGGA (p.Val311=)
c.900_903delinsTGGA (p.Val300=)
3g.189867890G>ACA355754967TP63c.940G>A (p.Gly314Arg)
c.658G>A (p.Gly220Arg)
c.403G>A (p.Gly135Arg)
n.764G>A
c.889G>A (p.Gly297Arg)
c.937G>A (p.Gly313Arg)
c.934G>A (p.Gly312Arg)
c.901G>A (p.Gly301Arg)
ClinVar gnomAD v4
3g.189867890G>CCA355754966TP63c.940G>C (p.Gly314Arg)
c.658G>C (p.Gly220Arg)
c.403G>C (p.Gly135Arg)
n.764G>C
c.889G>C (p.Gly297Arg)
c.937G>C (p.Gly313Arg)
c.934G>C (p.Gly312Arg)
c.901G>C (p.Gly301Arg)
3g.189867890G>TCA355754965TP63c.940G>T (p.Gly314Ter)
c.658G>T (p.Gly220Ter)
c.403G>T (p.Gly135Ter)
n.764G>T
c.889G>T (p.Gly297Ter)
c.937G>T (p.Gly313Ter)
c.934G>T (p.Gly312Ter)
c.901G>T (p.Gly301Ter)
3g.189867892_189867894delCA16042467TP63c.942_944del (p.Gly315del)
c.660_662del (p.Gly221del)
c.405_407del (p.Gly136del)
n.766_768del
c.891_893del (p.Gly298del)
c.939_941del (p.Gly314del)
c.936_938del (p.Gly313del)
c.903_905del (p.Gly302del)
ClinVar dbSNP
3g.189867891G>ACA355754968TP63c.941G>A (p.Gly314Glu)
c.659G>A (p.Gly220Glu)
c.404G>A (p.Gly135Glu)
n.765G>A
c.890G>A (p.Gly297Glu)
c.938G>A (p.Gly313Glu)
c.935G>A (p.Gly312Glu)
c.902G>A (p.Gly301Glu)
3g.189867891G>CCA355754969TP63c.941G>C (p.Gly314Ala)
c.659G>C (p.Gly220Ala)
c.404G>C (p.Gly135Ala)
n.765G>C
c.890G>C (p.Gly297Ala)
c.938G>C (p.Gly313Ala)
c.935G>C (p.Gly312Ala)
c.902G>C (p.Gly301Ala)
COSMIC COSMIC COSMIC
3g.189867891G>TCA355754970TP63c.941G>T (p.Gly314Val)
c.659G>T (p.Gly220Val)
c.404G>T (p.Gly135Val)
n.765G>T
c.890G>T (p.Gly297Val)
c.938G>T (p.Gly313Val)
c.935G>T (p.Gly312Val)
c.902G>T (p.Gly301Val)
3g.189867892A>CCA437413203TP63c.942A>C (p.Gly314=)
c.660A>C (p.Gly220=)
c.405A>C (p.Gly135=)
n.766A>C
c.891A>C (p.Gly297=)
c.939A>C (p.Gly313=)
c.936A>C (p.Gly312=)
c.903A>C (p.Gly301=)
3g.189867892A>GCA437413204TP63c.942A>G (p.Gly314=)
c.660A>G (p.Gly220=)
c.405A>G (p.Gly135=)
n.766A>G
c.891A>G (p.Gly297=)
c.939A>G (p.Gly313=)
c.936A>G (p.Gly312=)
c.903A>G (p.Gly301=)
3g.189867892A>TCA437413205TP63c.942A>T (p.Gly314=)
c.660A>T (p.Gly220=)
c.405A>T (p.Gly135=)
n.766A>T
c.891A>T (p.Gly297=)
c.939A>T (p.Gly313=)
c.936A>T (p.Gly312=)
c.903A>T (p.Gly301=)
3g.189867893G>ACA355754971TP63c.943G>A (p.Gly315Arg)
c.661G>A (p.Gly221Arg)
c.406G>A (p.Gly136Arg)
n.767G>A
c.892G>A (p.Gly298Arg)
c.940G>A (p.Gly314Arg)
c.937G>A (p.Gly313Arg)
c.904G>A (p.Gly302Arg)
3g.189867893G>CCA355754972TP63c.943G>C (p.Gly315Arg)
c.661G>C (p.Gly221Arg)
c.406G>C (p.Gly136Arg)
n.767G>C
c.892G>C (p.Gly298Arg)
c.940G>C (p.Gly314Arg)
c.937G>C (p.Gly313Arg)
c.904G>C (p.Gly302Arg)
3g.189867893G>TCA355754973TP63c.943G>T (p.Gly315Trp)
c.661G>T (p.Gly221Trp)
c.406G>T (p.Gly136Trp)
n.767G>T
c.892G>T (p.Gly298Trp)
c.940G>T (p.Gly314Trp)
c.937G>T (p.Gly313Trp)
c.904G>T (p.Gly302Trp)
3g.189867894G>ACA355754974TP63c.944G>A (p.Gly315Glu)
c.662G>A (p.Gly221Glu)
c.407G>A (p.Gly136Glu)
n.768G>A
c.893G>A (p.Gly298Glu)
c.941G>A (p.Gly314Glu)
c.938G>A (p.Gly313Glu)
c.905G>A (p.Gly302Glu)
ClinVar
3g.189867894G>CCA355754975TP63c.944G>C (p.Gly315Ala)
c.662G>C (p.Gly221Ala)
c.407G>C (p.Gly136Ala)
n.768G>C
c.893G>C (p.Gly298Ala)
c.941G>C (p.Gly314Ala)
c.938G>C (p.Gly313Ala)
c.905G>C (p.Gly302Ala)
3g.189867894G>TCA355754976TP63c.944G>T (p.Gly315Val)
c.662G>T (p.Gly221Val)
c.407G>T (p.Gly136Val)
n.768G>T
c.893G>T (p.Gly298Val)
c.941G>T (p.Gly314Val)
c.938G>T (p.Gly313Val)
c.905G>T (p.Gly302Val)
3g.189867895G>ACA2752298TP63c.945G>A (p.Gly315=)
c.663G>A (p.Gly221=)
c.408G>A (p.Gly136=)
n.769G>A
c.894G>A (p.Gly298=)
c.942G>A (p.Gly314=)
c.939G>A (p.Gly313=)
c.906G>A (p.Gly302=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189867895G>CCA89745813TP63c.945G>C (p.Gly315=)
c.663G>C (p.Gly221=)
c.408G>C (p.Gly136=)
n.769G>C
c.894G>C (p.Gly298=)
c.942G>C (p.Gly314=)
c.939G>C (p.Gly313=)
c.906G>C (p.Gly302=)
dbSNP gnomAD v3 gnomAD v4
3g.189867895G=CA1428494620TP63c.945G= (p.Gly315=)
c.663G= (p.Gly221=)
c.408G= (p.Gly136=)
n.769G=
c.894G= (p.Gly298=)
c.942G= (p.Gly314=)
c.939G= (p.Gly313=)
c.906G= (p.Gly302=)
3g.189867895G>TCA437413206TP63c.945G>T (p.Gly315=)
c.663G>T (p.Gly221=)
c.408G>T (p.Gly136=)
n.769G>T
c.894G>T (p.Gly298=)
c.942G>T (p.Gly314=)
c.939G>T (p.Gly313=)
c.906G>T (p.Gly302=)
gnomAD v4 COSMIC COSMIC COSMIC
3g.189867896A>CCA355754979TP63c.946A>C (p.Met316Leu)
c.664A>C (p.Met222Leu)
c.409A>C (p.Met137Leu)
n.770A>C
c.895A>C (p.Met299Leu)
c.943A>C (p.Met315Leu)
c.940A>C (p.Met314Leu)
c.907A>C (p.Met303Leu)
3g.189867896A>GCA355754978TP63c.946A>G (p.Met316Val)
c.664A>G (p.Met222Val)
c.409A>G (p.Met137Val)
n.770A>G
c.895A>G (p.Met299Val)
c.943A>G (p.Met315Val)
c.940A>G (p.Met314Val)
c.907A>G (p.Met303Val)
3g.189867896A>TCA355754977TP63c.946A>T (p.Met316Leu)
c.664A>T (p.Met222Leu)
c.409A>T (p.Met137Leu)
n.770A>T
c.895A>T (p.Met299Leu)
c.943A>T (p.Met315Leu)
c.940A>T (p.Met314Leu)
c.907A>T (p.Met303Leu)
3g.189867897T>ACA355754980TP63c.947T>A (p.Met316Lys)
c.665T>A (p.Met222Lys)
c.410T>A (p.Met137Lys)
n.771T>A
c.896T>A (p.Met299Lys)
c.944T>A (p.Met315Lys)
c.941T>A (p.Met314Lys)
c.908T>A (p.Met303Lys)
3g.189867897T>CCA355754981TP63c.947T>C (p.Met316Thr)
c.665T>C (p.Met222Thr)
c.410T>C (p.Met137Thr)
n.771T>C
c.896T>C (p.Met299Thr)
c.944T>C (p.Met315Thr)
c.941T>C (p.Met314Thr)
c.908T>C (p.Met303Thr)
3g.189867897T>GCA355754982TP63c.947T>G (p.Met316Arg)
c.665T>G (p.Met222Arg)
c.410T>G (p.Met137Arg)
n.771T>G
c.896T>G (p.Met299Arg)
c.944T>G (p.Met315Arg)
c.941T>G (p.Met314Arg)
c.908T>G (p.Met303Arg)
3g.189867898G>ACA355754983TP63c.948G>A (p.Met316Ile)
c.666G>A (p.Met222Ile)
c.411G>A (p.Met137Ile)
n.772G>A
c.897G>A (p.Met299Ile)
c.945G>A (p.Met315Ile)
c.942G>A (p.Met314Ile)
c.909G>A (p.Met303Ile)
COSMIC COSMIC COSMIC
3g.189867898G>CCA355754984TP63c.948G>C (p.Met316Ile)
c.666G>C (p.Met222Ile)
c.411G>C (p.Met137Ile)
n.772G>C
c.897G>C (p.Met299Ile)
c.945G>C (p.Met315Ile)
c.942G>C (p.Met314Ile)
c.909G>C (p.Met303Ile)
3g.189867898G>TCA355754985TP63c.948G>T (p.Met316Ile)
c.666G>T (p.Met222Ile)
c.411G>T (p.Met137Ile)
n.772G>T
c.897G>T (p.Met299Ile)
c.945G>T (p.Met315Ile)
c.942G>T (p.Met314Ile)
c.909G>T (p.Met303Ile)
3g.189867899A>CCA355754988TP63c.949A>C (p.Asn317His)
c.667A>C (p.Asn223His)
c.412A>C (p.Asn138His)
n.773A>C
c.898A>C (p.Asn300His)
c.946A>C (p.Asn316His)
c.943A>C (p.Asn315His)
c.910A>C (p.Asn304His)
3g.189867899A>GCA355754986TP63c.949A>G (p.Asn317Asp)
c.667A>G (p.Asn223Asp)
c.412A>G (p.Asn138Asp)
n.773A>G
c.898A>G (p.Asn300Asp)
c.946A>G (p.Asn316Asp)
c.943A>G (p.Asn315Asp)
c.910A>G (p.Asn304Asp)
3g.189867899A>TCA355754987TP63c.949A>T (p.Asn317Tyr)
c.667A>T (p.Asn223Tyr)
c.412A>T (p.Asn138Tyr)
n.773A>T
c.898A>T (p.Asn300Tyr)
c.946A>T (p.Asn316Tyr)
c.943A>T (p.Asn315Tyr)
c.910A>T (p.Asn304Tyr)
3g.189867900A>CCA355754989TP63c.950A>C (p.Asn317Thr)
c.668A>C (p.Asn223Thr)
c.413A>C (p.Asn138Thr)
n.774A>C
c.899A>C (p.Asn300Thr)
c.947A>C (p.Asn316Thr)
c.944A>C (p.Asn315Thr)
c.911A>C (p.Asn304Thr)
3g.189867900A>GCA355754990TP63c.950A>G (p.Asn317Ser)
c.668A>G (p.Asn223Ser)
c.413A>G (p.Asn138Ser)
n.774A>G
c.899A>G (p.Asn300Ser)
c.947A>G (p.Asn316Ser)
c.944A>G (p.Asn315Ser)
c.911A>G (p.Asn304Ser)
3g.189867900A>TCA355754991TP63c.950A>T (p.Asn317Ile)
c.668A>T (p.Asn223Ile)
c.413A>T (p.Asn138Ile)
n.774A>T
c.899A>T (p.Asn300Ile)
c.947A>T (p.Asn316Ile)
c.944A>T (p.Asn315Ile)
c.911A>T (p.Asn304Ile)
3g.189867901C>ACA355754992TP63c.951C>A (p.Asn317Lys)
c.669C>A (p.Asn223Lys)
c.414C>A (p.Asn138Lys)
n.775C>A
c.900C>A (p.Asn300Lys)
c.948C>A (p.Asn316Lys)
c.945C>A (p.Asn315Lys)
c.912C>A (p.Asn304Lys)
dbSNP gnomAD v3 gnomAD v4
3g.189867901C=CA1428494626TP63c.951C= (p.Asn317=)
c.669C= (p.Asn223=)
c.414C= (p.Asn138=)
n.775C=
c.900C= (p.Asn300=)
c.948C= (p.Asn316=)
c.945C= (p.Asn315=)
c.912C= (p.Asn304=)
3g.189867901C>GCA355754993TP63c.951C>G (p.Asn317Lys)
c.669C>G (p.Asn223Lys)
c.414C>G (p.Asn138Lys)
n.775C>G
c.900C>G (p.Asn300Lys)
c.948C>G (p.Asn316Lys)
c.945C>G (p.Asn315Lys)
c.912C>G (p.Asn304Lys)
3g.189867901C>TCA437413207TP63c.951C>T (p.Asn317=)
c.669C>T (p.Asn223=)
c.414C>T (p.Asn138=)
n.775C>T
c.900C>T (p.Asn300=)
c.948C>T (p.Asn316=)
c.945C>T (p.Asn315=)
c.912C>T (p.Asn304=)
3g.189867902C>ACA355754994TP63c.952C>A (p.Arg318Ser)
c.670C>A (p.Arg224Ser)
c.415C>A (p.Arg139Ser)
n.776C>A
c.901C>A (p.Arg301Ser)
c.949C>A (p.Arg317Ser)
c.946C>A (p.Arg316Ser)
c.913C>A (p.Arg305Ser)
3g.189867902C=CA1428494640TP63c.952C= (p.Arg318=)
c.670C= (p.Arg224=)
c.415C= (p.Arg139=)
n.776C=
c.901C= (p.Arg301=)
c.949C= (p.Arg317=)
c.946C= (p.Arg316=)
c.913C= (p.Arg305=)
3g.189867902C>GCA355754996TP63c.952C>G (p.Arg318Gly)
c.670C>G (p.Arg224Gly)
c.415C>G (p.Arg139Gly)
n.776C>G
c.901C>G (p.Arg301Gly)
c.949C>G (p.Arg317Gly)
c.946C>G (p.Arg316Gly)
c.913C>G (p.Arg305Gly)
3g.189867902C>TCA355754995TP63c.952C>T (p.Arg318Cys)
c.670C>T (p.Arg224Cys)
c.415C>T (p.Arg139Cys)
n.776C>T
c.901C>T (p.Arg301Cys)
c.949C>T (p.Arg317Cys)
c.946C>T (p.Arg316Cys)
c.913C>T (p.Arg305Cys)
ClinVar dbSNP
3g.189867903G>ACA118339TP63c.953G>A (p.Arg318His)
c.671G>A (p.Arg224His)
c.416G>A (p.Arg139His)
n.777G>A
c.902G>A (p.Arg301His)
c.950G>A (p.Arg317His)
c.947G>A (p.Arg316His)
c.914G>A (p.Arg305His)
ClinVar dbSNP
3g.189867903G>CCA355754997TP63c.953G>C (p.Arg318Pro)
c.671G>C (p.Arg224Pro)
c.416G>C (p.Arg139Pro)
n.777G>C
c.902G>C (p.Arg301Pro)
c.950G>C (p.Arg317Pro)
c.947G>C (p.Arg316Pro)
c.914G>C (p.Arg305Pro)
3g.189867903G=CA1428494648TP63c.953G= (p.Arg318=)
c.671G= (p.Arg224=)
c.416G= (p.Arg139=)
n.777G=
c.902G= (p.Arg301=)
c.950G= (p.Arg317=)
c.947G= (p.Arg316=)
c.914G= (p.Arg305=)
3g.189867903G>TCA355754998TP63c.953G>T (p.Arg318Leu)
c.671G>T (p.Arg224Leu)
c.416G>T (p.Arg139Leu)
n.777G>T
c.902G>T (p.Arg301Leu)
c.950G>T (p.Arg317Leu)
c.947G>T (p.Arg316Leu)
c.914G>T (p.Arg305Leu)
3g.189867903_189867904delinsAACA2586965936TP63c.953_954delinsAA (p.Arg318Gln)
c.671_672delinsAA (p.Arg224Gln)
c.416_417delinsAA (p.Arg139Gln)
n.777_778delinsAA
c.902_903delinsAA (p.Arg301Gln)
c.950_951delinsAA (p.Arg317Gln)
c.947_948delinsAA (p.Arg316Gln)
c.914_915delinsAA (p.Arg305Gln)
3g.189867904C>ACA2752299TP63c.954C>A (p.Arg318=)
c.672C>A (p.Arg224=)
c.417C>A (p.Arg139=)
n.778C>A
c.903C>A (p.Arg301=)
c.951C>A (p.Arg317=)
c.948C>A (p.Arg316=)
c.915C>A (p.Arg305=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189867904C=CA1428494658TP63c.954C= (p.Arg318=)
c.672C= (p.Arg224=)
c.417C= (p.Arg139=)
n.778C=
c.903C= (p.Arg301=)
c.951C= (p.Arg317=)
c.948C= (p.Arg316=)
c.915C= (p.Arg305=)
3g.189867904C>GCA437413208TP63c.954C>G (p.Arg318=)
c.672C>G (p.Arg224=)
c.417C>G (p.Arg139=)
n.778C>G
c.903C>G (p.Arg301=)
c.951C>G (p.Arg317=)
c.948C>G (p.Arg316=)
c.915C>G (p.Arg305=)
3g.189867904C>TCA437413209TP63c.954C>T (p.Arg318=)
c.672C>T (p.Arg224=)
c.417C>T (p.Arg139=)
n.778C>T
c.903C>T (p.Arg301=)
c.951C>T (p.Arg317=)
c.948C>T (p.Arg316=)
c.915C>T (p.Arg305=)
3g.189867905C>ACA355754999TP63c.955C>A (p.Arg319Ser)
c.673C>A (p.Arg225Ser)
c.418C>A (p.Arg140Ser)
n.779C>A
c.904C>A (p.Arg302Ser)
c.952C>A (p.Arg318Ser)
c.949C>A (p.Arg317Ser)
c.916C>A (p.Arg306Ser)
COSMIC COSMIC COSMIC
3g.189867905C=CA1428494671TP63c.955C= (p.Arg319=)
c.673C= (p.Arg225=)
c.418C= (p.Arg140=)
n.779C=
c.904C= (p.Arg302=)
c.952C= (p.Arg318=)
c.949C= (p.Arg317=)
c.916C= (p.Arg306=)
3g.189867905C>GCA355755000TP63c.955C>G (p.Arg319Gly)
c.673C>G (p.Arg225Gly)
c.418C>G (p.Arg140Gly)
n.779C>G
c.904C>G (p.Arg302Gly)
c.952C>G (p.Arg318Gly)
c.949C>G (p.Arg317Gly)
c.916C>G (p.Arg306Gly)
3g.189867905C>TCA118338TP63c.955C>T (p.Arg319Cys)
c.673C>T (p.Arg225Cys)
c.418C>T (p.Arg140Cys)
n.779C>T
c.904C>T (p.Arg302Cys)
c.952C>T (p.Arg318Cys)
c.949C>T (p.Arg317Cys)
c.916C>T (p.Arg306Cys)
ClinVar dbSNP
3g.189867906G>ACA10588353TP63c.956G>A (p.Arg319His)
c.674G>A (p.Arg225His)
c.419G>A (p.Arg140His)
n.780G>A
c.905G>A (p.Arg302His)
c.953G>A (p.Arg318His)
c.950G>A (p.Arg317His)
c.917G>A (p.Arg306His)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.189867906G>CCA355755001TP63c.956G>C (p.Arg319Pro)
c.674G>C (p.Arg225Pro)
c.419G>C (p.Arg140Pro)
n.780G>C
c.905G>C (p.Arg302Pro)
c.953G>C (p.Arg318Pro)
c.950G>C (p.Arg317Pro)
c.917G>C (p.Arg306Pro)
ClinVar
3g.189867906G=CA1428494678TP63c.956G= (p.Arg319=)
c.674G= (p.Arg225=)
c.419G= (p.Arg140=)
n.780G=
c.905G= (p.Arg302=)
c.953G= (p.Arg318=)
c.950G= (p.Arg317=)
c.917G= (p.Arg306=)
3g.189867906G>TCA355755002TP63c.956G>T (p.Arg319Leu)
c.674G>T (p.Arg225Leu)
c.419G>T (p.Arg140Leu)
n.780G>T
c.905G>T (p.Arg302Leu)
c.953G>T (p.Arg318Leu)
c.950G>T (p.Arg317Leu)
c.917G>T (p.Arg306Leu)
3g.189867907T>ACA437413211TP63c.957T>A (p.Arg319=)
c.675T>A (p.Arg225=)
c.420T>A (p.Arg140=)
n.781T>A
c.906T>A (p.Arg302=)
c.954T>A (p.Arg318=)
c.951T>A (p.Arg317=)
c.918T>A (p.Arg306=)
3g.189867907T>CCA2752300TP63c.957T>C (p.Arg319=)
c.675T>C (p.Arg225=)
c.420T>C (p.Arg140=)
n.781T>C
c.906T>C (p.Arg302=)
c.954T>C (p.Arg318=)
c.951T>C (p.Arg317=)
c.918T>C (p.Arg306=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189867907T>GCA437413210TP63c.957T>G (p.Arg319=)
c.675T>G (p.Arg225=)
c.420T>G (p.Arg140=)
n.781T>G
c.906T>G (p.Arg302=)
c.954T>G (p.Arg318=)
c.951T>G (p.Arg317=)
c.918T>G (p.Arg306=)
3g.189867907T=CA1428494687TP63c.957T= (p.Arg319=)
c.675T= (p.Arg225=)
c.420T= (p.Arg140=)
n.781T=
c.906T= (p.Arg302=)
c.954T= (p.Arg318=)
c.951T= (p.Arg317=)
c.918T= (p.Arg306=)
3g.189867908C>ACA355755003TP63c.958C>A (p.Pro320Thr)
c.676C>A (p.Pro226Thr)
c.421C>A (p.Pro141Thr)
n.782C>A
c.907C>A (p.Pro303Thr)
c.955C>A (p.Pro319Thr)
c.952C>A (p.Pro318Thr)
c.919C>A (p.Pro307Thr)
3g.189867908C>GCA355755005TP63c.958C>G (p.Pro320Ala)
c.676C>G (p.Pro226Ala)
c.421C>G (p.Pro141Ala)
n.782C>G
c.907C>G (p.Pro303Ala)
c.955C>G (p.Pro319Ala)
c.952C>G (p.Pro318Ala)
c.919C>G (p.Pro307Ala)
gnomAD v4
3g.189867908C>TCA355755004TP63c.958C>T (p.Pro320Ser)
c.676C>T (p.Pro226Ser)
c.421C>T (p.Pro141Ser)
n.782C>T
c.907C>T (p.Pro303Ser)
c.955C>T (p.Pro319Ser)
c.952C>T (p.Pro318Ser)
c.919C>T (p.Pro307Ser)
3g.189867909C>ACA355755006TP63c.959C>A (p.Pro320Gln)
c.677C>A (p.Pro226Gln)
c.422C>A (p.Pro141Gln)
n.783C>A
c.908C>A (p.Pro303Gln)
c.956C>A (p.Pro319Gln)
c.953C>A (p.Pro318Gln)
c.920C>A (p.Pro307Gln)
3g.189867909C>GCA355755008TP63c.959C>G (p.Pro320Arg)
c.677C>G (p.Pro226Arg)
c.422C>G (p.Pro141Arg)
n.783C>G
c.908C>G (p.Pro303Arg)
c.956C>G (p.Pro319Arg)
c.953C>G (p.Pro318Arg)
c.920C>G (p.Pro307Arg)
3g.189867909C>TCA355755007TP63c.959C>T (p.Pro320Leu)
c.677C>T (p.Pro226Leu)
c.422C>T (p.Pro141Leu)
n.783C>T
c.908C>T (p.Pro303Leu)
c.956C>T (p.Pro319Leu)
c.953C>T (p.Pro318Leu)
c.920C>T (p.Pro307Leu)
3g.189867910A=CA1428494693TP63c.960A= (p.Pro320=)
c.678A= (p.Pro226=)
c.423A= (p.Pro141=)
n.784A=
c.909A= (p.Pro303=)
c.957A= (p.Pro319=)
c.954A= (p.Pro318=)
c.921A= (p.Pro307=)
3g.189867910A>CCA437413212TP63c.960A>C (p.Pro320=)
c.678A>C (p.Pro226=)
c.423A>C (p.Pro141=)
n.784A>C
c.909A>C (p.Pro303=)
c.957A>C (p.Pro319=)
c.954A>C (p.Pro318=)
c.921A>C (p.Pro307=)
3g.189867910A>GCA437413213TP63c.960A>G (p.Pro320=)
c.678A>G (p.Pro226=)
c.423A>G (p.Pro141=)
n.784A>G
c.909A>G (p.Pro303=)
c.957A>G (p.Pro319=)
c.954A>G (p.Pro318=)
c.921A>G (p.Pro307=)
dbSNP
3g.189867910A>TCA437413214TP63c.960A>T (p.Pro320=)
c.678A>T (p.Pro226=)
c.423A>T (p.Pro141=)
n.784A>T
c.909A>T (p.Pro303=)
c.957A>T (p.Pro319=)
c.954A>T (p.Pro318=)
c.921A>T (p.Pro307=)
3g.189867911A=CA1428494701TP63c.961A= (p.Ile321=)
c.679A= (p.Ile227=)
c.424A= (p.Ile142=)
n.785A=
c.910A= (p.Ile304=)
c.958A= (p.Ile320=)
c.955A= (p.Ile319=)
c.922A= (p.Ile308=)
3g.189867911A>CCA355755009TP63c.961A>C (p.Ile321Leu)
c.679A>C (p.Ile227Leu)
c.424A>C (p.Ile142Leu)
n.785A>C
c.910A>C (p.Ile304Leu)
c.958A>C (p.Ile320Leu)
c.955A>C (p.Ile319Leu)
c.922A>C (p.Ile308Leu)
3g.189867911A>GCA89745843TP63c.961A>G (p.Ile321Val)
c.679A>G (p.Ile227Val)
c.424A>G (p.Ile142Val)
n.785A>G
c.910A>G (p.Ile304Val)
c.958A>G (p.Ile320Val)
c.955A>G (p.Ile319Val)
c.922A>G (p.Ile308Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189867911A>TCA355755010TP63c.961A>T (p.Ile321Phe)
c.679A>T (p.Ile227Phe)
c.424A>T (p.Ile142Phe)
n.785A>T
c.910A>T (p.Ile304Phe)
c.958A>T (p.Ile320Phe)
c.955A>T (p.Ile319Phe)
c.922A>T (p.Ile308Phe)
3g.189867912T>ACA355755011TP63c.962T>A (p.Ile321Asn)
c.680T>A (p.Ile227Asn)
c.425T>A (p.Ile142Asn)
n.786T>A
c.911T>A (p.Ile304Asn)
c.959T>A (p.Ile320Asn)
c.956T>A (p.Ile319Asn)
c.923T>A (p.Ile308Asn)
3g.189867912T>CCA355755012TP63c.962T>C (p.Ile321Thr)
c.680T>C (p.Ile227Thr)
c.425T>C (p.Ile142Thr)
n.786T>C
c.911T>C (p.Ile304Thr)
c.959T>C (p.Ile320Thr)
c.956T>C (p.Ile319Thr)
c.923T>C (p.Ile308Thr)
3g.189867912T>GCA355755013TP63c.962T>G (p.Ile321Ser)
c.680T>G (p.Ile227Ser)
c.425T>G (p.Ile142Ser)
n.786T>G
c.911T>G (p.Ile304Ser)
c.959T>G (p.Ile320Ser)
c.956T>G (p.Ile319Ser)
c.923T>G (p.Ile308Ser)
3g.189867913T>ACA437413215TP63c.963T>A (p.Ile321=)
c.681T>A (p.Ile227=)
c.426T>A (p.Ile142=)
n.787T>A
c.912T>A (p.Ile304=)
c.960T>A (p.Ile320=)
c.957T>A (p.Ile319=)
c.924T>A (p.Ile308=)
3g.189867913T>CCA437413216TP63c.963T>C (p.Ile321=)
c.681T>C (p.Ile227=)
c.426T>C (p.Ile142=)
n.787T>C
c.912T>C (p.Ile304=)
c.960T>C (p.Ile320=)
c.957T>C (p.Ile319=)
c.924T>C (p.Ile308=)
3g.189867913T>GCA355755014TP63c.963T>G (p.Ile321Met)
c.681T>G (p.Ile227Met)
c.426T>G (p.Ile142Met)
n.787T>G
c.912T>G (p.Ile304Met)
c.960T>G (p.Ile320Met)
c.957T>G (p.Ile319Met)
c.924T>G (p.Ile308Met)
3g.189867914T>ACA355755015TP63c.964T>A (p.Leu322Ile)
c.682T>A (p.Leu228Ile)
c.427T>A (p.Leu143Ile)
n.788T>A
c.913T>A (p.Leu305Ile)
c.961T>A (p.Leu321Ile)
c.958T>A (p.Leu320Ile)
c.925T>A (p.Leu309Ile)
3g.189867914T>CCA437413217TP63c.964T>C (p.Leu322=)
c.682T>C (p.Leu228=)
c.427T>C (p.Leu143=)
n.788T>C
c.913T>C (p.Leu305=)
c.961T>C (p.Leu321=)
c.958T>C (p.Leu320=)
c.925T>C (p.Leu309=)
gnomAD v3 gnomAD v4
3g.189867914T>GCA355755016TP63c.964T>G (p.Leu322Val)
c.682T>G (p.Leu228Val)
c.427T>G (p.Leu143Val)
n.788T>G
c.913T>G (p.Leu305Val)
c.961T>G (p.Leu321Val)
c.958T>G (p.Leu320Val)
c.925T>G (p.Leu309Val)
3g.189867915T>ACA355755019TP63c.965T>A (p.Leu322Ter)
c.683T>A (p.Leu228Ter)
c.428T>A (p.Leu143Ter)
n.789T>A
c.914T>A (p.Leu305Ter)
c.962T>A (p.Leu321Ter)
c.959T>A (p.Leu320Ter)
c.926T>A (p.Leu309Ter)
3g.189867915T>CCA355755017TP63c.965T>C (p.Leu322Ser)
c.683T>C (p.Leu228Ser)
c.428T>C (p.Leu143Ser)
n.789T>C
c.914T>C (p.Leu305Ser)
c.962T>C (p.Leu321Ser)
c.959T>C (p.Leu320Ser)
c.926T>C (p.Leu309Ser)
gnomAD v4
3g.189867915T>GCA355755018TP63c.965T>G (p.Leu322Ter)
c.683T>G (p.Leu228Ter)
c.428T>G (p.Leu143Ter)
n.789T>G
c.914T>G (p.Leu305Ter)
c.962T>G (p.Leu321Ter)
c.959T>G (p.Leu320Ter)
c.926T>G (p.Leu309Ter)
3g.189867916A>CCA355755020TP63c.966A>C (p.Leu322Phe)
c.684A>C (p.Leu228Phe)
c.429A>C (p.Leu143Phe)
n.790A>C
c.915A>C (p.Leu305Phe)
c.963A>C (p.Leu321Phe)
c.960A>C (p.Leu320Phe)
c.927A>C (p.Leu309Phe)
gnomAD v4
3g.189867916A>GCA437413218TP63c.966A>G (p.Leu322=)
c.684A>G (p.Leu228=)
c.429A>G (p.Leu143=)
n.790A>G
c.915A>G (p.Leu305=)
c.963A>G (p.Leu321=)
c.960A>G (p.Leu320=)
c.927A>G (p.Leu309=)
gnomAD v4
3g.189867916A>TCA355755021TP63c.966A>T (p.Leu322Phe)
c.684A>T (p.Leu228Phe)
c.429A>T (p.Leu143Phe)
n.790A>T
c.915A>T (p.Leu305Phe)
c.963A>T (p.Leu321Phe)
c.960A>T (p.Leu320Phe)
c.927A>T (p.Leu309Phe)

Number of alleles fetched