Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99900629_99900631delCA967068AGLc.3363-7_3363-5del (n.3363-7_3363-5del)
n.3574-7_3574-5del
c.3315-7_3315-5del (n.3315-7_3315-5del)
c.3312-7_3312-5del (n.3312-7_3312-5del)
c.1623-7_1623-5del (n.1623-7_1623-5del)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99900628delCA2499214924AGLc.3363-8del (n.3363-8del)
n.3574-8del
c.3315-8del (n.3315-8del)
c.3312-8del (n.3312-8del)
c.1623-8del (n.1623-8del)
 ClinVar dbSNP
1g.99900628T>ACA2574444663AGLc.3363-8T>A (n.3363-8T>A)
n.3574-8T>A
c.3315-8T>A (n.3315-8T>A)
c.3312-8T>A (n.3312-8T>A)
c.1623-8T>A (n.1623-8T>A)
1g.99900628T>CCA524878293AGLc.3363-8T>C (n.3363-8T>C)
n.3574-8T>C
c.3315-8T>C (n.3315-8T>C)
c.3312-8T>C (n.3312-8T>C)
c.1623-8T>C (n.1623-8T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.99900628T=CA1183937232AGLc.3363-8T= (n.3363-8T=)
n.3574-8T=
c.3315-8T= (n.3315-8T=)
c.3312-8T= (n.3312-8T=)
c.1623-8T= (n.1623-8T=)
1g.99900629G>ACA2646738324AGLc.3363-7G>A (n.3363-7G>A)
n.3574-7G>A
c.3315-7G>A (n.3315-7G>A)
c.3312-7G>A (n.3312-7G>A)
c.1623-7G>A (n.1623-7G>A)
 ClinVar gnomAD v4
1g.99900630T>GCA2646738325AGLc.3363-6T>G (n.3363-6T>G)
n.3574-6T>G
c.3315-6T>G (n.3315-6T>G)
c.3312-6T>G (n.3312-6T>G)
c.1623-6T>G (n.1623-6T>G)
 gnomAD v4
1g.99900633T>CCA2646738326AGLc.3363-3T>C (n.3363-3T>C)
n.3574-3T>C
c.3315-3T>C (n.3315-3T>C)
c.3312-3T>C (n.3312-3T>C)
c.1623-3T>C (n.1623-3T>C)
 gnomAD v4
1g.99900634A=CA1183937233AGLc.3363-2A= (n.3363-2A=)
n.3574-2A=
c.3315-2A= (n.3315-2A=)
c.3312-2A= (n.3312-2A=)
c.1623-2A= (n.1623-2A=)
1g.99900634A>CCA341330414AGLc.3363-2A>C (n.3363-2A>C)
n.3574-2A>C
c.3315-2A>C (n.3315-2A>C)
c.3312-2A>C (n.3312-2A>C)
c.1623-2A>C (n.1623-2A>C)
1g.99900634A>GCA341330418AGLc.3363-2A>G (n.3363-2A>G)
n.3574-2A>G
c.3315-2A>G (n.3315-2A>G)
c.3312-2A>G (n.3312-2A>G)
c.1623-2A>G (n.1623-2A>G)
1g.99900634A>TCA967070AGLc.3363-2A>T (n.3363-2A>T)
n.3574-2A>T
c.3315-2A>T (n.3315-2A>T)
c.3312-2A>T (n.3312-2A>T)
c.1623-2A>T (n.1623-2A>T)
 dbSNP ExAC
1g.99900635G>ACA16040843AGLc.3363-1G>A (n.3363-1G>A)
n.3574-1G>A
c.3315-1G>A (n.3315-1G>A)
c.3312-1G>A (n.3312-1G>A)
c.1623-1G>A (n.1623-1G>A)
 ClinVar dbSNP
1g.99900635G>CCA341330435AGLc.3363-1G>C (n.3363-1G>C)
n.3574-1G>C
c.3315-1G>C (n.3315-1G>C)
c.3312-1G>C (n.3312-1G>C)
c.1623-1G>C (n.1623-1G>C)
1g.99900635G=CA1183937234AGLc.3363-1G= (n.3363-1G=)
n.3574-1G=
c.3315-1G= (n.3315-1G=)
c.3312-1G= (n.3312-1G=)
c.1623-1G= (n.1623-1G=)
1g.99900635G>TCA341330438AGLc.3363-1G>T (n.3363-1G>T)
n.3574-1G>T
c.3315-1G>T (n.3315-1G>T)
c.3312-1G>T (n.3312-1G>T)
c.1623-1G>T (n.1623-1G>T)
1g.99900636G>ACA419314752AGLc.3363G>A (p.Arg1121=)
n.3574G>A
c.3315G>A (p.Arg1105=)
c.3312G>A (p.Arg1104=)
c.1623G>A (p.Arg541=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99900636G>CCA341330440AGLc.3363G>C (p.Arg1121Ser)
n.3574G>C
c.3315G>C (p.Arg1105Ser)
c.3312G>C (p.Arg1104Ser)
c.1623G>C (p.Arg541Ser)
1g.99900636G=CA1183937235AGLc.3363G= (p.Arg1121=)
n.3574G=
c.3315G= (p.Arg1105=)
c.3312G= (p.Arg1104=)
c.1623G= (p.Arg541=)
1g.99900636G>TCA341330441AGLc.3363G>T (p.Arg1121Ser)
n.3574G>T
c.3315G>T (p.Arg1105Ser)
c.3312G>T (p.Arg1104Ser)
c.1623G>T (p.Arg541Ser)
 gnomAD v4
1g.99900637A>CCA341330442AGLc.3364A>C (p.Asn1122His)
n.3575A>C
c.3316A>C (p.Asn1106His)
c.3313A>C (p.Asn1105His)
c.1624A>C (p.Asn542His)
1g.99900637A>GCA341330444AGLc.3364A>G (p.Asn1122Asp)
n.3575A>G
c.3316A>G (p.Asn1106Asp)
c.3313A>G (p.Asn1105Asp)
c.1624A>G (p.Asn542Asp)
1g.99900637A>TCA341330447AGLc.3364A>T (p.Asn1122Tyr)
n.3575A>T
c.3316A>T (p.Asn1106Tyr)
c.3313A>T (p.Asn1105Tyr)
c.1624A>T (p.Asn542Tyr)
1g.99900638A>CCA341330459AGLc.3365A>C (p.Asn1122Thr)
n.3576A>C
c.3317A>C (p.Asn1106Thr)
c.3314A>C (p.Asn1105Thr)
c.1625A>C (p.Asn542Thr)
1g.99900638A>GCA341330450AGLc.3365A>G (p.Asn1122Ser)
n.3576A>G
c.3317A>G (p.Asn1106Ser)
c.3314A>G (p.Asn1105Ser)
c.1625A>G (p.Asn542Ser)
 gnomAD v4
1g.99900638A>TCA341330453AGLc.3365A>T (p.Asn1122Ile)
n.3576A>T
c.3317A>T (p.Asn1106Ile)
c.3314A>T (p.Asn1105Ile)
c.1625A>T (p.Asn542Ile)
1g.99900639T>ACA341330463AGLc.3366T>A (p.Asn1122Lys)
n.3577T>A
c.3318T>A (p.Asn1106Lys)
c.3315T>A (p.Asn1105Lys)
c.1626T>A (p.Asn542Lys)
1g.99900639T>CCA419314753AGLc.3366T>C (p.Asn1122=)
n.3577T>C
c.3318T>C (p.Asn1106=)
c.3315T>C (p.Asn1105=)
c.1626T>C (p.Asn542=)
1g.99900639T>GCA341330466AGLc.3366T>G (p.Asn1122Lys)
n.3577T>G
c.3318T>G (p.Asn1106Lys)
c.3315T>G (p.Asn1105Lys)
c.1626T>G (p.Asn542Lys)
1g.99900640A=CA1183937236AGLc.3367A= (p.Ile1123=)
n.3578A=
c.3319A= (p.Ile1107=)
c.3316A= (p.Ile1106=)
c.1627A= (p.Ile543=)
1g.99900640A>CCA341330471AGLc.3367A>C (p.Ile1123Leu)
n.3578A>C
c.3319A>C (p.Ile1107Leu)
c.3316A>C (p.Ile1106Leu)
c.1627A>C (p.Ile543Leu)
1g.99900640A>GCA967071AGLc.3367A>G (p.Ile1123Val)
n.3578A>G
c.3319A>G (p.Ile1107Val)
c.3316A>G (p.Ile1106Val)
c.1627A>G (p.Ile543Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99900640A>TCA341330478AGLc.3367A>T (p.Ile1123Phe)
n.3578A>T
c.3319A>T (p.Ile1107Phe)
c.3316A>T (p.Ile1106Phe)
c.1627A>T (p.Ile543Phe)
1g.99900641T>ACA341330486AGLc.3368T>A (p.Ile1123Asn)
n.3579T>A
c.3320T>A (p.Ile1107Asn)
c.3317T>A (p.Ile1106Asn)
c.1628T>A (p.Ile543Asn)
1g.99900641T>CCA341330490AGLc.3368T>C (p.Ile1123Thr)
n.3579T>C
c.3320T>C (p.Ile1107Thr)
c.3317T>C (p.Ile1106Thr)
c.1628T>C (p.Ile543Thr)
1g.99900641T>GCA341330493AGLc.3368T>G (p.Ile1123Ser)
n.3579T>G
c.3320T>G (p.Ile1107Ser)
c.3317T>G (p.Ile1106Ser)
c.1628T>G (p.Ile543Ser)
1g.99900642T>ACA419314754AGLc.3369T>A (p.Ile1123=)
n.3580T>A
c.3321T>A (p.Ile1107=)
c.3318T>A (p.Ile1106=)
c.1629T>A (p.Ile543=)
1g.99900642T>CCA419314755AGLc.3369T>C (p.Ile1123=)
n.3580T>C
c.3321T>C (p.Ile1107=)
c.3318T>C (p.Ile1106=)
c.1629T>C (p.Ile543=)
1g.99900642T>GCA341330498AGLc.3369T>G (p.Ile1123Met)
n.3580T>G
c.3321T>G (p.Ile1107Met)
c.3318T>G (p.Ile1106Met)
c.1629T>G (p.Ile543Met)
1g.99900643A>CCA341330509AGLc.3370A>C (p.Ile1124Leu)
n.3581A>C
c.3322A>C (p.Ile1108Leu)
c.3319A>C (p.Ile1107Leu)
c.1630A>C (p.Ile544Leu)
1g.99900643A>GCA341330510AGLc.3370A>G (p.Ile1124Val)
n.3581A>G
c.3322A>G (p.Ile1108Val)
c.3319A>G (p.Ile1107Val)
c.1630A>G (p.Ile544Val)
1g.99900643A>TCA341330515AGLc.3370A>T (p.Ile1124Phe)
n.3581A>T
c.3322A>T (p.Ile1108Phe)
c.3319A>T (p.Ile1107Phe)
c.1630A>T (p.Ile544Phe)
1g.99900644T>ACA341330527AGLc.3371T>A (p.Ile1124Asn)
n.3582T>A
c.3323T>A (p.Ile1108Asn)
c.3320T>A (p.Ile1107Asn)
c.1631T>A (p.Ile544Asn)
1g.99900644T>CCA341330525AGLc.3371T>C (p.Ile1124Thr)
n.3582T>C
c.3323T>C (p.Ile1108Thr)
c.3320T>C (p.Ile1107Thr)
c.1631T>C (p.Ile544Thr)
 ClinVar dbSNP gnomAD v4
1g.99900644T>GCA341330518AGLc.3371T>G (p.Ile1124Ser)
n.3582T>G
c.3323T>G (p.Ile1108Ser)
c.3320T>G (p.Ile1107Ser)
c.1631T>G (p.Ile544Ser)
 dbSNP
1g.99900645T>ACA419314756AGLc.3372T>A (p.Ile1124=)
n.3583T>A
c.3324T>A (p.Ile1108=)
c.3321T>A (p.Ile1107=)
c.1632T>A (p.Ile544=)
1g.99900645T>CCA419314757AGLc.3372T>C (p.Ile1124=)
n.3583T>C
c.3324T>C (p.Ile1108=)
c.3321T>C (p.Ile1107=)
c.1632T>C (p.Ile544=)
1g.99900645T>GCA341330531AGLc.3372T>G (p.Ile1124Met)
n.3583T>G
c.3324T>G (p.Ile1108Met)
c.3321T>G (p.Ile1107Met)
c.1632T>G (p.Ile544Met)
 dbSNP gnomAD v4
1g.99900645T=CA1183937237AGLc.3372T= (p.Ile1124=)
n.3583T=
c.3324T= (p.Ile1108=)
c.3321T= (p.Ile1107=)
c.1632T= (p.Ile544=)
1g.99900646T>ACA341330535AGLc.3373T>A (p.Leu1125Ile)
n.3584T>A
c.3325T>A (p.Leu1109Ile)
c.3322T>A (p.Leu1108Ile)
c.1633T>A (p.Leu545Ile)
1g.99900646T>CCA419314758AGLc.3373T>C (p.Leu1125=)
n.3584T>C
c.3325T>C (p.Leu1109=)
c.3322T>C (p.Leu1108=)
c.1633T>C (p.Leu545=)
1g.99900646T>GCA341330540AGLc.3373T>G (p.Leu1125Val)
n.3584T>G
c.3325T>G (p.Leu1109Val)
c.3322T>G (p.Leu1108Val)
c.1633T>G (p.Leu545Val)
1g.99900647T>ACA341330544AGLc.3374T>A (p.Leu1125Ter)
n.3585T>A
c.3326T>A (p.Leu1109Ter)
c.3323T>A (p.Leu1108Ter)
c.1634T>A (p.Leu545Ter)
1g.99900647T>CCA341330561AGLc.3374T>C (p.Leu1125Ser)
n.3585T>C
c.3326T>C (p.Leu1109Ser)
c.3323T>C (p.Leu1108Ser)
c.1634T>C (p.Leu545Ser)
1g.99900647T>GCA341330564AGLc.3374T>G (p.Leu1125Ter)
n.3585T>G
c.3326T>G (p.Leu1109Ter)
c.3323T>G (p.Leu1108Ter)
c.1634T>G (p.Leu545Ter)
 ClinVar dbSNP
1g.99900648A=CA1183937238AGLc.3375A= (p.Leu1125=)
n.3586A=
c.3327A= (p.Leu1109=)
c.3324A= (p.Leu1108=)
c.1635A= (p.Leu545=)
1g.99900648A>CCA341330568AGLc.3375A>C (p.Leu1125Phe)
n.3586A>C
c.3327A>C (p.Leu1109Phe)
c.3324A>C (p.Leu1108Phe)
c.1635A>C (p.Leu545Phe)
1g.99900648A>GCA967072AGLc.3375A>G (p.Leu1125=)
n.3586A>G
c.3327A>G (p.Leu1109=)
c.3324A>G (p.Leu1108=)
c.1635A>G (p.Leu545=)
 ClinVar dbSNP ExAC gnomAD v2
1g.99900648A>TCA341330567AGLc.3375A>T (p.Leu1125Phe)
n.3586A>T
c.3327A>T (p.Leu1109Phe)
c.3324A>T (p.Leu1108Phe)
c.1635A>T (p.Leu545Phe)
1g.99900649G>ACA341330569AGLc.3376G>A (p.Ala1126Thr)
n.3587G>A
c.3328G>A (p.Ala1110Thr)
c.3325G>A (p.Ala1109Thr)
c.1636G>A (p.Ala546Thr)
 dbSNP gnomAD v4
1g.99900649G>CCA341330570AGLc.3376G>C (p.Ala1126Pro)
n.3587G>C
c.3328G>C (p.Ala1110Pro)
c.3325G>C (p.Ala1109Pro)
c.1636G>C (p.Ala546Pro)
1g.99900649G=CA1183937239AGLc.3376G= (p.Ala1126=)
n.3587G=
c.3328G= (p.Ala1110=)
c.3325G= (p.Ala1109=)
c.1636G= (p.Ala546=)
1g.99900649G>TCA341330571AGLc.3376G>T (p.Ala1126Ser)
n.3587G>T
c.3328G>T (p.Ala1110Ser)
c.3325G>T (p.Ala1109Ser)
c.1636G>T (p.Ala546Ser)
1g.99900650C>ACA341330574AGLc.3377C>A (p.Ala1126Glu)
n.3588C>A
c.3329C>A (p.Ala1110Glu)
c.3326C>A (p.Ala1109Glu)
c.1637C>A (p.Ala546Glu)
1g.99900650C>GCA341330582AGLc.3377C>G (p.Ala1126Gly)
n.3588C>G
c.3329C>G (p.Ala1110Gly)
c.3326C>G (p.Ala1109Gly)
c.1637C>G (p.Ala546Gly)
1g.99900650C>TCA341330585AGLc.3377C>T (p.Ala1126Val)
n.3588C>T
c.3329C>T (p.Ala1110Val)
c.3326C>T (p.Ala1109Val)
c.1637C>T (p.Ala546Val)
1g.99900651A=CA1183937240AGLc.3378A= (p.Ala1126=)
n.3589A=
c.3330A= (p.Ala1110=)
c.3327A= (p.Ala1109=)
c.1638A= (p.Ala546=)
1g.99900651A>CCA419314759AGLc.3378A>C (p.Ala1126=)
n.3589A>C
c.3330A>C (p.Ala1110=)
c.3327A>C (p.Ala1109=)
c.1638A>C (p.Ala546=)
1g.99900651A>GCA419314760AGLc.3378A>G (p.Ala1126=)
n.3589A>G
c.3330A>G (p.Ala1110=)
c.3327A>G (p.Ala1109=)
c.1638A>G (p.Ala546=)
 ClinVar
1g.99900651A>TCA419314761AGLc.3378A>T (p.Ala1126=)
n.3589A>T
c.3330A>T (p.Ala1110=)
c.3327A>T (p.Ala1109=)
c.1638A>T (p.Ala546=)
1g.99900652T>ACA341330601AGLc.3379T>A (p.Phe1127Ile)
n.3590T>A
c.3331T>A (p.Phe1111Ile)
c.3328T>A (p.Phe1110Ile)
c.1639T>A (p.Phe547Ile)
1g.99900652T>CCA341330605AGLc.3379T>C (p.Phe1127Leu)
n.3590T>C
c.3331T>C (p.Phe1111Leu)
c.3328T>C (p.Phe1110Leu)
c.1639T>C (p.Phe547Leu)
1g.99900652T>GCA341330604AGLc.3379T>G (p.Phe1127Val)
n.3590T>G
c.3331T>G (p.Phe1111Val)
c.3328T>G (p.Phe1110Val)
c.1639T>G (p.Phe547Val)
1g.99900654dupCA741013034AGLc.3381dup (p.Ala1128CysfsTer11)
n.3592dup
c.3333dup (p.Ala1112CysfsTer11)
c.3330dup (p.Ala1111CysfsTer11)
c.1641dup (p.Ala548CysfsTer11)
 dbSNP
1g.99900653T>ACA341330607AGLc.3380T>A (p.Phe1127Tyr)
n.3591T>A
c.3332T>A (p.Phe1111Tyr)
c.3329T>A (p.Phe1110Tyr)
c.1640T>A (p.Phe547Tyr)
 gnomAD v4
1g.99900653T>CCA341330610AGLc.3380T>C (p.Phe1127Ser)
n.3591T>C
c.3332T>C (p.Phe1111Ser)
c.3329T>C (p.Phe1110Ser)
c.1640T>C (p.Phe547Ser)
1g.99900653T>GCA341330624AGLc.3380T>G (p.Phe1127Cys)
n.3591T>G
c.3332T>G (p.Phe1111Cys)
c.3329T>G (p.Phe1110Cys)
c.1640T>G (p.Phe547Cys)
1g.99900654T>ACA341330631AGLc.3381T>A (p.Phe1127Leu)
n.3592T>A
c.3333T>A (p.Phe1111Leu)
c.3330T>A (p.Phe1110Leu)
c.1641T>A (p.Phe547Leu)
1g.99900654T>CCA419314762AGLc.3381T>C (p.Phe1127=)
n.3592T>C
c.3333T>C (p.Phe1111=)
c.3330T>C (p.Phe1110=)
c.1641T>C (p.Phe547=)
 ClinVar
1g.99900654T>GCA341330633AGLc.3381T>G (p.Phe1127Leu)
n.3592T>G
c.3333T>G (p.Phe1111Leu)
c.3330T>G (p.Phe1110Leu)
c.1641T>G (p.Phe547Leu)
1g.99900655G>ACA341330637AGLc.3382G>A (p.Ala1128Thr)
n.3593G>A
c.3334G>A (p.Ala1112Thr)
c.3331G>A (p.Ala1111Thr)
c.1642G>A (p.Ala548Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99900655G>CCA341330640AGLc.3382G>C (p.Ala1128Pro)
n.3593G>C
c.3334G>C (p.Ala1112Pro)
c.3331G>C (p.Ala1111Pro)
c.1642G>C (p.Ala548Pro)
1g.99900655G=CA1183937241AGLc.3382G= (p.Ala1128=)
n.3593G=
c.3334G= (p.Ala1112=)
c.3331G= (p.Ala1111=)
c.1642G= (p.Ala548=)
1g.99900655G>TCA341330644AGLc.3382G>T (p.Ala1128Ser)
n.3593G>T
c.3334G>T (p.Ala1112Ser)
c.3331G>T (p.Ala1111Ser)
c.1642G>T (p.Ala548Ser)
1g.99900656C>ACA341330646AGLc.3383C>A (p.Ala1128Glu)
n.3594C>A
c.3335C>A (p.Ala1112Glu)
c.3332C>A (p.Ala1111Glu)
c.1643C>A (p.Ala548Glu)
1g.99900656C=CA1183937242AGLc.3383C= (p.Ala1128=)
n.3594C=
c.3335C= (p.Ala1112=)
c.3332C= (p.Ala1111=)
c.1643C= (p.Ala548=)
1g.99900656C>GCA341330648AGLc.3383C>G (p.Ala1128Gly)
n.3594C>G
c.3335C>G (p.Ala1112Gly)
c.3332C>G (p.Ala1111Gly)
c.1643C>G (p.Ala548Gly)
1g.99900656C>TCA341330658AGLc.3383C>T (p.Ala1128Val)
n.3594C>T
c.3335C>T (p.Ala1112Val)
c.3332C>T (p.Ala1111Val)
c.1643C>T (p.Ala548Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99900657G>ACA967073AGLc.3384G>A (p.Ala1128=)
n.3595G>A
c.3336G>A (p.Ala1112=)
c.3333G>A (p.Ala1111=)
c.1644G>A (p.Ala548=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99900657G>CCA419314763AGLc.3384G>C (p.Ala1128=)
n.3595G>C
c.3336G>C (p.Ala1112=)
c.3333G>C (p.Ala1111=)
c.1644G>C (p.Ala548=)
1g.99900657G=CA1142299726AGLc.3384G= (p.Ala1128=)
n.3595G=
c.3336G= (p.Ala1112=)
c.3333G= (p.Ala1111=)
c.1644G= (p.Ala548=)
1g.99900657G>TCA419314764AGLc.3384G>T (p.Ala1128=)
n.3595G>T
c.3336G>T (p.Ala1112=)
c.3333G>T (p.Ala1111=)
c.1644G>T (p.Ala548=)
1g.99900658G>ACA341330665AGLc.3385G>A (p.Gly1129Ser)
n.3596G>A
c.3337G>A (p.Gly1113Ser)
c.3334G>A (p.Gly1112Ser)
c.1645G>A (p.Gly549Ser)
 gnomAD v4
1g.99900658G>CCA341330669AGLc.3385G>C (p.Gly1129Arg)
n.3596G>C
c.3337G>C (p.Gly1113Arg)
c.3334G>C (p.Gly1112Arg)
c.1645G>C (p.Gly549Arg)
1g.99900658G=CA1183937243AGLc.3385G= (p.Gly1129=)
n.3596G=
c.3337G= (p.Gly1113=)
c.3334G= (p.Gly1112=)
c.1645G= (p.Gly549=)
1g.99900658G>TCA967074AGLc.3385G>T (p.Gly1129Cys)
n.3596G>T
c.3337G>T (p.Gly1113Cys)
c.3334G>T (p.Gly1112Cys)
c.1645G>T (p.Gly549Cys)
 dbSNP ExAC
1g.99900659G>ACA341330682AGLc.3386G>A (p.Gly1129Asp)
n.3597G>A
c.3338G>A (p.Gly1113Asp)
c.3335G>A (p.Gly1112Asp)
c.1646G>A (p.Gly549Asp)
 ClinVar dbSNP gnomAD v4
1g.99900659G>CCA341330699AGLc.3386G>C (p.Gly1129Ala)
n.3597G>C
c.3338G>C (p.Gly1113Ala)
c.3335G>C (p.Gly1112Ala)
c.1646G>C (p.Gly549Ala)
1g.99900659G=CA1183937244AGLc.3386G= (p.Gly1129=)
n.3597G=
c.3338G= (p.Gly1113=)
c.3335G= (p.Gly1112=)
c.1646G= (p.Gly549=)
1g.99900659G>TCA967075AGLc.3386G>T (p.Gly1129Val)
n.3597G>T
c.3338G>T (p.Gly1113Val)
c.3335G>T (p.Gly1112Val)
c.1646G>T (p.Gly549Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99900660T>ACA419314765AGLc.3387T>A (p.Gly1129=)
n.3598T>A
c.3339T>A (p.Gly1113=)
c.3336T>A (p.Gly1112=)
c.1647T>A (p.Gly549=)
1g.99900660T>CCA419314767AGLc.3387T>C (p.Gly1129=)
n.3598T>C
c.3339T>C (p.Gly1113=)
c.3336T>C (p.Gly1112=)
c.1647T>C (p.Gly549=)
1g.99900660T>GCA419314766AGLc.3387T>G (p.Gly1129=)
n.3598T>G
c.3339T>G (p.Gly1113=)
c.3336T>G (p.Gly1112=)
c.1647T>G (p.Gly549=)
1g.99900661A=CA1183937245AGLc.3388A= (p.Thr1130=)
n.3599A=
c.3340A= (p.Thr1114=)
c.3337A= (p.Thr1113=)
c.1648A= (p.Thr550=)
1g.99900661A>CCA341330704AGLc.3388A>C (p.Thr1130Pro)
n.3599A>C
c.3340A>C (p.Thr1114Pro)
c.3337A>C (p.Thr1113Pro)
c.1648A>C (p.Thr550Pro)
1g.99900661A>GCA341330708AGLc.3388A>G (p.Thr1130Ala)
n.3599A>G
c.3340A>G (p.Thr1114Ala)
c.3337A>G (p.Thr1113Ala)
c.1648A>G (p.Thr550Ala)
 dbSNP gnomAD v4
1g.99900661A>TCA341330730AGLc.3388A>T (p.Thr1130Ser)
n.3599A>T
c.3340A>T (p.Thr1114Ser)
c.3337A>T (p.Thr1113Ser)
c.1648A>T (p.Thr550Ser)
1g.99900662C>ACA341330734AGLc.3389C>A (p.Thr1130Asn)
n.3600C>A
c.3341C>A (p.Thr1114Asn)
c.3338C>A (p.Thr1113Asn)
c.1649C>A (p.Thr550Asn)
1g.99900662C=CA1183937246AGLc.3389C= (p.Thr1130=)
n.3600C=
c.3341C= (p.Thr1114=)
c.3338C= (p.Thr1113=)
c.1649C= (p.Thr550=)
1g.99900662C>GCA341330740AGLc.3389C>G (p.Thr1130Ser)
n.3600C>G
c.3341C>G (p.Thr1114Ser)
c.3338C>G (p.Thr1113Ser)
c.1649C>G (p.Thr550Ser)
 gnomAD v4
1g.99900662C>TCA341330746AGLc.3389C>T (p.Thr1130Ile)
n.3600C>T
c.3341C>T (p.Thr1114Ile)
c.3338C>T (p.Thr1113Ile)
c.1649C>T (p.Thr550Ile)
 dbSNP gnomAD v4
1g.99900663C>ACA419314768AGLc.3390C>A (p.Thr1130=)
n.3601C>A
c.3342C>A (p.Thr1114=)
c.3339C>A (p.Thr1113=)
c.1650C>A (p.Thr550=)
1g.99900663C=CA1183937247AGLc.3390C= (p.Thr1130=)
n.3601C=
c.3342C= (p.Thr1114=)
c.3339C= (p.Thr1113=)
c.1650C= (p.Thr550=)
1g.99900663C>GCA419314769AGLc.3390C>G (p.Thr1130=)
n.3601C>G
c.3342C>G (p.Thr1114=)
c.3339C>G (p.Thr1113=)
c.1650C>G (p.Thr550=)
1g.99900663C>TCA419314770AGLc.3390C>T (p.Thr1130=)
n.3601C>T
c.3342C>T (p.Thr1114=)
c.3339C>T (p.Thr1113=)
c.1650C>T (p.Thr550=)
 dbSNP
1g.99900664C>ACA341330752AGLc.3391C>A (p.Leu1131Met)
n.3602C>A
c.3343C>A (p.Leu1115Met)
c.3340C>A (p.Leu1114Met)
c.1651C>A (p.Leu551Met)
1g.99900664C>GCA341330760AGLc.3391C>G (p.Leu1131Val)
n.3602C>G
c.3343C>G (p.Leu1115Val)
c.3340C>G (p.Leu1114Val)
c.1651C>G (p.Leu551Val)
 gnomAD v4
1g.99900664C>TCA419314771AGLc.3391C>T (p.Leu1131=)
n.3602C>T
c.3343C>T (p.Leu1115=)
c.3340C>T (p.Leu1114=)
c.1651C>T (p.Leu551=)
1g.99900665T>ACA341330761AGLc.3392T>A (p.Leu1131Gln)
n.3603T>A
c.3344T>A (p.Leu1115Gln)
c.3341T>A (p.Leu1114Gln)
c.1652T>A (p.Leu551Gln)
1g.99900665T>CCA341330762AGLc.3392T>C (p.Leu1131Pro)
n.3603T>C
c.3344T>C (p.Leu1115Pro)
c.3341T>C (p.Leu1114Pro)
c.1652T>C (p.Leu551Pro)
1g.99900665T>GCA341330763AGLc.3392T>G (p.Leu1131Arg)
n.3603T>G
c.3344T>G (p.Leu1115Arg)
c.3341T>G (p.Leu1114Arg)
c.1652T>G (p.Leu551Arg)
1g.99900666G>ACA419314772AGLc.3393G>A (p.Leu1131=)
n.3604G>A
c.3345G>A (p.Leu1115=)
c.3342G>A (p.Leu1114=)
c.1653G>A (p.Leu551=)
 ClinVar dbSNP
1g.99900666G>CCA419314773AGLc.3393G>C (p.Leu1131=)
n.3604G>C
c.3345G>C (p.Leu1115=)
c.3342G>C (p.Leu1114=)
c.1653G>C (p.Leu551=)
1g.99900666G>TCA419314774AGLc.3393G>T (p.Leu1131=)
n.3604G>T
c.3345G>T (p.Leu1115=)
c.3342G>T (p.Leu1114=)
c.1653G>T (p.Leu551=)
1g.99900667A>CCA419314775AGLc.3394A>C (p.Arg1132=)
n.3605A>C
c.3346A>C (p.Arg1116=)
c.3343A>C (p.Arg1115=)
c.1654A>C (p.Arg552=)
1g.99900667A>GCA341330780AGLc.3394A>G (p.Arg1132Gly)
n.3605A>G
c.3346A>G (p.Arg1116Gly)
c.3343A>G (p.Arg1115Gly)
c.1654A>G (p.Arg552Gly)
1g.99900667A>TCA341330766AGLc.3394A>T (p.Arg1132Trp)
n.3605A>T
c.3346A>T (p.Arg1116Trp)
c.3343A>T (p.Arg1115Trp)
c.1654A>T (p.Arg552Trp)
1g.99900668G>ACA341330785AGLc.3395G>A (p.Arg1132Lys)
n.3606G>A
c.3347G>A (p.Arg1116Lys)
c.3344G>A (p.Arg1115Lys)
c.1655G>A (p.Arg552Lys)
 ClinVar dbSNP gnomAD v4
1g.99900668G>CCA341330790AGLc.3395G>C (p.Arg1132Thr)
n.3606G>C
c.3347G>C (p.Arg1116Thr)
c.3344G>C (p.Arg1115Thr)
c.1655G>C (p.Arg552Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.99900668G=CA1183937248AGLc.3395G= (p.Arg1132=)
n.3606G=
c.3347G= (p.Arg1116=)
c.3344G= (p.Arg1115=)
c.1655G= (p.Arg552=)
1g.99900668G>TCA341330797AGLc.3395G>T (p.Arg1132Met)
n.3606G>T
c.3347G>T (p.Arg1116Met)
c.3344G>T (p.Arg1115Met)
c.1655G>T (p.Arg552Met)
1g.99900669G>ACA419314776AGLc.3396G>A (p.Arg1132=)
n.3607G>A
c.3348G>A (p.Arg1116=)
c.3345G>A (p.Arg1115=)
c.1656G>A (p.Arg552=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99900669G>CCA341330804AGLc.3396G>C (p.Arg1132Ser)
n.3607G>C
c.3348G>C (p.Arg1116Ser)
c.3345G>C (p.Arg1115Ser)
c.1656G>C (p.Arg552Ser)
1g.99900669G=CA1183937249AGLc.3396G= (p.Arg1132=)
n.3607G=
c.3348G= (p.Arg1116=)
c.3345G= (p.Arg1115=)
c.1656G= (p.Arg552=)
1g.99900669G>TCA341330807AGLc.3396G>T (p.Arg1132Ser)
n.3607G>T
c.3348G>T (p.Arg1116Ser)
c.3345G>T (p.Arg1115Ser)
c.1656G>T (p.Arg552Ser)
 gnomAD v4
1g.99900670C>ACA341330811AGLc.3397C>A (p.His1133Asn)
n.3608C>A
c.3349C>A (p.His1117Asn)
c.3346C>A (p.His1116Asn)
c.1657C>A (p.His553Asn)
1g.99900670C>GCA341330812AGLc.3397C>G (p.His1133Asp)
n.3608C>G
c.3349C>G (p.His1117Asp)
c.3346C>G (p.His1116Asp)
c.1657C>G (p.His553Asp)
1g.99900670C>TCA341330813AGLc.3397C>T (p.His1133Tyr)
n.3608C>T
c.3349C>T (p.His1117Tyr)
c.3346C>T (p.His1116Tyr)
c.1657C>T (p.His553Tyr)
1g.99900671A>CCA341330814AGLc.3398A>C (p.His1133Pro)
n.3609A>C
c.3350A>C (p.His1117Pro)
c.3347A>C (p.His1116Pro)
c.1658A>C (p.His553Pro)
1g.99900671A>GCA341330815AGLc.3398A>G (p.His1133Arg)
n.3609A>G
c.3350A>G (p.His1117Arg)
c.3347A>G (p.His1116Arg)
c.1658A>G (p.His553Arg)
 gnomAD v4
1g.99900671A>TCA341330816AGLc.3398A>T (p.His1133Leu)
n.3609A>T
c.3350A>T (p.His1117Leu)
c.3347A>T (p.His1116Leu)
c.1658A>T (p.His553Leu)
1g.99900672T>ACA341330821AGLc.3399T>A (p.His1133Gln)
n.3610T>A
c.3351T>A (p.His1117Gln)
c.3348T>A (p.His1116Gln)
c.1659T>A (p.His553Gln)
1g.99900672T>CCA967076AGLc.3399T>C (p.His1133=)
n.3610T>C
c.3351T>C (p.His1117=)
c.3348T>C (p.His1116=)
c.1659T>C (p.His553=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99900672T>GCA341330817AGLc.3399T>G (p.His1133Gln)
n.3610T>G
c.3351T>G (p.His1117Gln)
c.3348T>G (p.His1116Gln)
c.1659T>G (p.His553Gln)
1g.99900672T=CA1183937250AGLc.3399T= (p.His1133=)
n.3610T=
c.3351T= (p.His1117=)
c.3348T= (p.His1116=)
c.1659T= (p.His553=)
1g.99900672_99900673delinsTGCA1183937251AGLc.3399_3400delinsTG (p.His1133=)
n.3610_3611delinsTG
c.3351_3352delinsTG (p.His1117=)
c.3348_3349delinsTG (p.His1116=)
c.1659_1660delinsTG (p.His553=)
1g.99900673G>ACA27539244AGLc.3400G>A (p.Gly1134Ser)
n.3611G>A
c.3352G>A (p.Gly1118Ser)
c.3349G>A (p.Gly1117Ser)
c.1660G>A (p.Gly554Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99900673G>CCA341330831AGLc.3400G>C (p.Gly1134Arg)
n.3611G>C
c.3352G>C (p.Gly1118Arg)
c.3349G>C (p.Gly1117Arg)
c.1660G>C (p.Gly554Arg)
1g.99900673G=CA1142126919AGLc.3400G= (p.Gly1134=)
n.3611G=
c.3352G= (p.Gly1118=)
c.3349G= (p.Gly1117=)
c.1660G= (p.Gly554=)
1g.99900673G>TCA341330841AGLc.3400G>T (p.Gly1134Cys)
n.3611G>T
c.3352G>T (p.Gly1118Cys)
c.3349G>T (p.Gly1117Cys)
c.1660G>T (p.Gly554Cys)
1g.99900674delCA524878454AGLc.3401del (p.Gly1134ValfsTer?)
n.3612del
c.3353del (p.Gly1118ValfsTer?)
c.3350del (p.Gly1117ValfsTer?)
c.1661del (p.Gly554ValfsTer?)
 dbSNP gnomAD v2 gnomAD v4
1g.99900674G>ACA341330846AGLc.3401G>A (p.Gly1134Asp)
n.3612G>A
c.3353G>A (p.Gly1118Asp)
c.3350G>A (p.Gly1117Asp)
c.1661G>A (p.Gly554Asp)
 gnomAD v4
1g.99900674G>CCA341330847AGLc.3401G>C (p.Gly1134Ala)
n.3612G>C
c.3353G>C (p.Gly1118Ala)
c.3350G>C (p.Gly1117Ala)
c.1661G>C (p.Gly554Ala)
1g.99900674G>TCA341330848AGLc.3401G>T (p.Gly1134Val)
n.3612G>T
c.3353G>T (p.Gly1118Val)
c.3350G>T (p.Gly1117Val)
c.1661G>T (p.Gly554Val)
 gnomAD v4
1g.99900675T>ACA419314587AGLc.3402T>A (p.Gly1134=)
n.3613T>A
c.3354T>A (p.Gly1118=)
c.3351T>A (p.Gly1117=)
c.1662T>A (p.Gly554=)
1g.99900675T>CCA419314588AGLc.3402T>C (p.Gly1134=)
n.3613T>C
c.3354T>C (p.Gly1118=)
c.3351T>C (p.Gly1117=)
c.1662T>C (p.Gly554=)
1g.99900675T>GCA419314589AGLc.3402T>G (p.Gly1134=)
n.3613T>G
c.3354T>G (p.Gly1118=)
c.3351T>G (p.Gly1117=)
c.1662T>G (p.Gly554=)
1g.99900676C>ACA341330850AGLc.3403C>A (p.Leu1135Ile)
n.3614C>A
c.3355C>A (p.Leu1119Ile)
c.3352C>A (p.Leu1118Ile)
c.1663C>A (p.Leu555Ile)
1g.99900676C=CA1183937252AGLc.3403C= (p.Leu1135=)
n.3614C=
c.3355C= (p.Leu1119=)
c.3352C= (p.Leu1118=)
c.1663C= (p.Leu555=)
1g.99900676C>GCA341330853AGLc.3403C>G (p.Leu1135Val)
n.3614C>G
c.3355C>G (p.Leu1119Val)
c.3352C>G (p.Leu1118Val)
c.1663C>G (p.Leu555Val)
 dbSNP gnomAD v2 gnomAD v4
1g.99900676C>TCA341330863AGLc.3403C>T (p.Leu1135Phe)
n.3614C>T
c.3355C>T (p.Leu1119Phe)
c.3352C>T (p.Leu1118Phe)
c.1663C>T (p.Leu555Phe)
1g.99900677T>ACA341330867AGLc.3404T>A (p.Leu1135His)
n.3615T>A
c.3356T>A (p.Leu1119His)
c.3353T>A (p.Leu1118His)
c.1664T>A (p.Leu555His)
1g.99900677T>CCA341330869AGLc.3404T>C (p.Leu1135Pro)
n.3615T>C
c.3356T>C (p.Leu1119Pro)
c.3353T>C (p.Leu1118Pro)
c.1664T>C (p.Leu555Pro)
1g.99900677T>GCA341330871AGLc.3404T>G (p.Leu1135Arg)
n.3615T>G
c.3356T>G (p.Leu1119Arg)
c.3353T>G (p.Leu1118Arg)
c.1664T>G (p.Leu555Arg)
1g.99900678C>ACA419314590AGLc.3405C>A (p.Leu1135=)
n.3616C>A
c.3357C>A (p.Leu1119=)
c.3354C>A (p.Leu1118=)
c.1665C>A (p.Leu555=)
 COSMIC COSMIC
1g.99900678C=CA1183937253AGLc.3405C= (p.Leu1135=)
n.3616C=
c.3357C= (p.Leu1119=)
c.3354C= (p.Leu1118=)
c.1665C= (p.Leu555=)
1g.99900678C>GCA419314591AGLc.3405C>G (p.Leu1135=)
n.3616C>G
c.3357C>G (p.Leu1119=)
c.3354C>G (p.Leu1118=)
c.1665C>G (p.Leu555=)
1g.99900678C>TCA419314592AGLc.3405C>T (p.Leu1135=)
n.3616C>T
c.3357C>T (p.Leu1119=)
c.3354C>T (p.Leu1118=)
c.1665C>T (p.Leu555=)
 ClinVar dbSNP
1g.99900679A>CCA341330877AGLc.3406A>C (p.Ile1136Leu)
n.3617A>C
c.3358A>C (p.Ile1120Leu)
c.3355A>C (p.Ile1119Leu)
c.1666A>C (p.Ile556Leu)
1g.99900679A>GCA341330887AGLc.3406A>G (p.Ile1136Val)
n.3617A>G
c.3358A>G (p.Ile1120Val)
c.3355A>G (p.Ile1119Val)
c.1666A>G (p.Ile556Val)
 gnomAD v4
1g.99900679A>TCA341330873AGLc.3406A>T (p.Ile1136Phe)
n.3617A>T
c.3358A>T (p.Ile1120Phe)
c.3355A>T (p.Ile1119Phe)
c.1666A>T (p.Ile556Phe)
1g.99900680T>ACA341330893AGLc.3407T>A (p.Ile1136Asn)
n.3618T>A
c.3359T>A (p.Ile1120Asn)
c.3356T>A (p.Ile1119Asn)
c.1667T>A (p.Ile556Asn)
1g.99900680T>CCA341330894AGLc.3407T>C (p.Ile1136Thr)
n.3618T>C
c.3359T>C (p.Ile1120Thr)
c.3356T>C (p.Ile1119Thr)
c.1667T>C (p.Ile556Thr)
1g.99900680T>GCA341330897AGLc.3407T>G (p.Ile1136Ser)
n.3618T>G
c.3359T>G (p.Ile1120Ser)
c.3356T>G (p.Ile1119Ser)
c.1667T>G (p.Ile556Ser)
 dbSNP gnomAD v4
1g.99900680T=CA1183937254AGLc.3407T= (p.Ile1136=)
n.3618T=
c.3359T= (p.Ile1120=)
c.3356T= (p.Ile1119=)
c.1667T= (p.Ile556=)
1g.99900681T>ACA419314593AGLc.3408T>A (p.Ile1136=)
n.3619T>A
c.3360T>A (p.Ile1120=)
c.3357T>A (p.Ile1119=)
c.1668T>A (p.Ile556=)
1g.99900681T>CCA419314594AGLc.3408T>C (p.Ile1136=)
n.3619T>C
c.3360T>C (p.Ile1120=)
c.3357T>C (p.Ile1119=)
c.1668T>C (p.Ile556=)
1g.99900681T>GCA341330901AGLc.3408T>G (p.Ile1136Met)
n.3619T>G
c.3360T>G (p.Ile1120Met)
c.3357T>G (p.Ile1119Met)
c.1668T>G (p.Ile556Met)
1g.99900682C>ACA341330906AGLc.3409C>A (p.Pro1137Thr)
n.3620C>A
c.3361C>A (p.Pro1121Thr)
c.3358C>A (p.Pro1120Thr)
c.1669C>A (p.Pro557Thr)
1g.99900682C>GCA341330905AGLc.3409C>G (p.Pro1137Ala)
n.3620C>G
c.3361C>G (p.Pro1121Ala)
c.3358C>G (p.Pro1120Ala)
c.1669C>G (p.Pro557Ala)
 gnomAD v4
1g.99900682C>TCA341330904AGLc.3409C>T (p.Pro1137Ser)
n.3620C>T
c.3361C>T (p.Pro1121Ser)
c.3358C>T (p.Pro1120Ser)
c.1669C>T (p.Pro557Ser)
 gnomAD v4 COSMIC COSMIC
1g.99900683C>ACA341330907AGLc.3410C>A (p.Pro1137His)
n.3621C>A
c.3362C>A (p.Pro1121His)
c.3359C>A (p.Pro1120His)
c.1670C>A (p.Pro557His)
1g.99900683C>GCA341330908AGLc.3410C>G (p.Pro1137Arg)
n.3621C>G
c.3362C>G (p.Pro1121Arg)
c.3359C>G (p.Pro1120Arg)
c.1670C>G (p.Pro557Arg)
1g.99900683C>TCA341330910AGLc.3410C>T (p.Pro1137Leu)
n.3621C>T
c.3362C>T (p.Pro1121Leu)
c.3359C>T (p.Pro1120Leu)
c.1670C>T (p.Pro557Leu)
1g.99900684T>ACA419314595AGLc.3411T>A (p.Pro1137=)
n.3622T>A
c.3363T>A (p.Pro1121=)
c.3360T>A (p.Pro1120=)
c.1671T>A (p.Pro557=)
 ClinVar dbSNP gnomAD v4
1g.99900684T>CCA419314596AGLc.3411T>C (p.Pro1137=)
n.3622T>C
c.3363T>C (p.Pro1121=)
c.3360T>C (p.Pro1120=)
c.1671T>C (p.Pro557=)
 dbSNP gnomAD v2
1g.99900684T>GCA419314597AGLc.3411T>G (p.Pro1137=)
n.3622T>G
c.3363T>G (p.Pro1121=)
c.3360T>G (p.Pro1120=)
c.1671T>G (p.Pro557=)
1g.99900684T=CA1183937255AGLc.3411T= (p.Pro1137=)
n.3622T=
c.3363T= (p.Pro1121=)
c.3360T= (p.Pro1120=)
c.1671T= (p.Pro557=)
1g.99900685A=CA1144108183AGLc.3412A= (p.Asn1138=)
n.3623A=
c.3364A= (p.Asn1122=)
c.3361A= (p.Asn1121=)
c.1672A= (p.Asn558=)
1g.99900685A>CCA341330912AGLc.3412A>C (p.Asn1138His)
n.3623A>C
c.3364A>C (p.Asn1122His)
c.3361A>C (p.Asn1121His)
c.1672A>C (p.Asn558His)
1g.99900685A>GCA27539249AGLc.3412A>G (p.Asn1138Asp)
n.3623A>G
c.3364A>G (p.Asn1122Asp)
c.3361A>G (p.Asn1121Asp)
c.1672A>G (p.Asn558Asp)
 dbSNP gnomAD v2 gnomAD v4
1g.99900685A>TCA341330914AGLc.3412A>T (p.Asn1138Tyr)
n.3623A>T
c.3364A>T (p.Asn1122Tyr)
c.3361A>T (p.Asn1121Tyr)
c.1672A>T (p.Asn558Tyr)
1g.99900686A>CCA341330961AGLc.3413A>C (p.Asn1138Thr)
n.3624A>C
c.3365A>C (p.Asn1122Thr)
c.3362A>C (p.Asn1121Thr)
c.1673A>C (p.Asn558Thr)
1g.99900686A>GCA341330954AGLc.3413A>G (p.Asn1138Ser)
n.3624A>G
c.3365A>G (p.Asn1122Ser)
c.3362A>G (p.Asn1121Ser)
c.1673A>G (p.Asn558Ser)
1g.99900686A>TCA341330925AGLc.3413A>T (p.Asn1138Ile)
n.3624A>T
c.3365A>T (p.Asn1122Ile)
c.3362A>T (p.Asn1121Ile)
c.1673A>T (p.Asn558Ile)
1g.99900687T>ACA341330965AGLc.3414T>A (p.Asn1138Lys)
n.3625T>A
c.3366T>A (p.Asn1122Lys)
c.3363T>A (p.Asn1121Lys)
c.1674T>A (p.Asn558Lys)
1g.99900687T>CCA419314598AGLc.3414T>C (p.Asn1138=)
n.3625T>C
c.3366T>C (p.Asn1122=)
c.3363T>C (p.Asn1121=)
c.1674T>C (p.Asn558=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99900687T>GCA341330972AGLc.3414T>G (p.Asn1138Lys)
n.3625T>G
c.3366T>G (p.Asn1122Lys)
c.3363T>G (p.Asn1121Lys)
c.1674T>G (p.Asn558Lys)
1g.99900687T=CA1183937256AGLc.3414T= (p.Asn1138=)
n.3625T=
c.3366T= (p.Asn1122=)
c.3363T= (p.Asn1121=)
c.1674T= (p.Asn558=)
1g.99900688C>ACA341330978AGLc.3415C>A (p.Leu1139Ile)
n.3626C>A
c.3367C>A (p.Leu1123Ile)
c.3364C>A (p.Leu1122Ile)
c.1675C>A (p.Leu559Ile)
1g.99900688C>GCA341330980AGLc.3415C>G (p.Leu1139Val)
n.3626C>G
c.3367C>G (p.Leu1123Val)
c.3364C>G (p.Leu1122Val)
c.1675C>G (p.Leu559Val)
 ClinVar
1g.99900688C>TCA419314599AGLc.3415C>T (p.Leu1139=)
n.3626C>T
c.3367C>T (p.Leu1123=)
c.3364C>T (p.Leu1122=)
c.1675C>T (p.Leu559=)
1g.99900689T>ACA341330982AGLc.3416T>A (p.Leu1139Gln)
n.3627T>A
c.3368T>A (p.Leu1123Gln)
c.3365T>A (p.Leu1122Gln)
c.1676T>A (p.Leu559Gln)
1g.99900689T>CCA341330986AGLc.3416T>C (p.Leu1139Pro)
n.3627T>C
c.3368T>C (p.Leu1123Pro)
c.3365T>C (p.Leu1122Pro)
c.1676T>C (p.Leu559Pro)
 dbSNP
1g.99900689T>GCA341330990AGLc.3416T>G (p.Leu1139Arg)
n.3627T>G
c.3368T>G (p.Leu1123Arg)
c.3365T>G (p.Leu1122Arg)
c.1676T>G (p.Leu559Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99900689T=CA1183937257AGLc.3416T= (p.Leu1139=)
n.3627T=
c.3368T= (p.Leu1123=)
c.3365T= (p.Leu1122=)
c.1676T= (p.Leu559=)
1g.99900690A>CCA419314602AGLc.3417A>C (p.Leu1139=)
n.3628A>C
c.3369A>C (p.Leu1123=)
c.3366A>C (p.Leu1122=)
c.1677A>C (p.Leu559=)
1g.99900690A>GCA419314601AGLc.3417A>G (p.Leu1139=)
n.3628A>G
c.3369A>G (p.Leu1123=)
c.3366A>G (p.Leu1122=)
c.1677A>G (p.Leu559=)
 gnomAD v4
1g.99900690A>TCA419314600AGLc.3417A>T (p.Leu1139=)
n.3628A>T
c.3369A>T (p.Leu1123=)
c.3366A>T (p.Leu1122=)
c.1677A>T (p.Leu559=)
1g.99900691C>ACA341331015AGLc.3418C>A (p.Leu1140Met)
n.3629C>A
c.3370C>A (p.Leu1124Met)
c.3367C>A (p.Leu1123Met)
c.1678C>A (p.Leu560Met)
1g.99900691C=CA1183937258AGLc.3418C= (p.Leu1140=)
n.3629C=
c.3370C= (p.Leu1124=)
c.3367C= (p.Leu1123=)
c.1678C= (p.Leu560=)
1g.99900691C>GCA341331010AGLc.3418C>G (p.Leu1140Val)
n.3629C>G
c.3370C>G (p.Leu1124Val)
c.3367C>G (p.Leu1123Val)
c.1678C>G (p.Leu560Val)
1g.99900691C>TCA419314603AGLc.3418C>T (p.Leu1140=)
n.3629C>T
c.3370C>T (p.Leu1124=)
c.3367C>T (p.Leu1123=)
c.1678C>T (p.Leu560=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99900692T>ACA341331018AGLc.3419T>A (p.Leu1140Gln)
n.3630T>A
c.3371T>A (p.Leu1124Gln)
c.3368T>A (p.Leu1123Gln)
c.1679T>A (p.Leu560Gln)
1g.99900692T>CCA341331028AGLc.3419T>C (p.Leu1140Pro)
n.3630T>C
c.3371T>C (p.Leu1124Pro)
c.3368T>C (p.Leu1123Pro)
c.1679T>C (p.Leu560Pro)
1g.99900692T>GCA967077AGLc.3419T>G (p.Leu1140Arg)
n.3630T>G
c.3371T>G (p.Leu1124Arg)
c.3368T>G (p.Leu1123Arg)
c.1679T>G (p.Leu560Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99900692T=CA1147350733AGLc.3419T= (p.Leu1140=)
n.3630T=
c.3371T= (p.Leu1124=)
c.3368T= (p.Leu1123=)
c.1679T= (p.Leu560=)
1g.99900693G>ACA419314604AGLc.3420G>A (p.Leu1140=)
n.3631G>A
c.3372G>A (p.Leu1124=)
c.3369G>A (p.Leu1123=)
c.1680G>A (p.Leu560=)
1g.99900693G>CCA419314605AGLc.3420G>C (p.Leu1140=)
n.3631G>C
c.3372G>C (p.Leu1124=)
c.3369G>C (p.Leu1123=)
c.1680G>C (p.Leu560=)
1g.99900693G>TCA419314606AGLc.3420G>T (p.Leu1140=)
n.3631G>T
c.3372G>T (p.Leu1124=)
c.3369G>T (p.Leu1123=)
c.1680G>T (p.Leu560=)
1g.99900695delCA2646738327AGLc.3422del (p.Gly1141ValfsTer?)
n.3633del
c.3374del (p.Gly1125ValfsTer?)
c.3371del (p.Gly1124ValfsTer?)
c.1682del (p.Gly561ValfsTer?)
 gnomAD v4
1g.99900694G>ACA341331035AGLc.3421G>A (p.Gly1141Ser)
n.3632G>A
c.3373G>A (p.Gly1125Ser)
c.3370G>A (p.Gly1124Ser)
c.1681G>A (p.Gly561Ser)
 gnomAD v4
1g.99900694G>CCA341331036AGLc.3421G>C (p.Gly1141Arg)
n.3632G>C
c.3373G>C (p.Gly1125Arg)
c.3370G>C (p.Gly1124Arg)
c.1681G>C (p.Gly561Arg)
1g.99900694G>TCA341331037AGLc.3421G>T (p.Gly1141Cys)
n.3632G>T
c.3373G>T (p.Gly1125Cys)
c.3370G>T (p.Gly1124Cys)
c.1681G>T (p.Gly561Cys)
1g.99900695G>ACA341331040AGLc.3422G>A (p.Gly1141Asp)
n.3633G>A
c.3374G>A (p.Gly1125Asp)
c.3371G>A (p.Gly1124Asp)
c.1682G>A (p.Gly561Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99900695G>CCA341331038AGLc.3422G>C (p.Gly1141Ala)
n.3633G>C
c.3374G>C (p.Gly1125Ala)
c.3371G>C (p.Gly1124Ala)
c.1682G>C (p.Gly561Ala)
1g.99900695G=CA1183937259AGLc.3422G= (p.Gly1141=)
n.3633G=
c.3374G= (p.Gly1125=)
c.3371G= (p.Gly1124=)
c.1682G= (p.Gly561=)
1g.99900695G>TCA341331039AGLc.3422G>T (p.Gly1141Val)
n.3633G>T
c.3374G>T (p.Gly1125Val)
c.3371G>T (p.Gly1124Val)
c.1682G>T (p.Gly561Val)
1g.99900696_99900697delCA2586967151AGLc.3423_3424del (p.Glu1142ArgfsTer24)
n.3634_3635del
c.3375_3376del (p.Glu1126ArgfsTer24)
c.3372_3373del (p.Glu1125ArgfsTer24)
c.1683_1684del (p.Glu562ArgfsTer24)
1g.99900696T>ACA419314607AGLc.3423T>A (p.Gly1141=)
n.3634T>A
c.3375T>A (p.Gly1125=)
c.3372T>A (p.Gly1124=)
c.1683T>A (p.Gly561=)
1g.99900696T>CCA419314609AGLc.3423T>C (p.Gly1141=)
n.3634T>C
c.3375T>C (p.Gly1125=)
c.3372T>C (p.Gly1124=)
c.1683T>C (p.Gly561=)
1g.99900696T>GCA419314608AGLc.3423T>G (p.Gly1141=)
n.3634T>G
c.3375T>G (p.Gly1125=)
c.3372T>G (p.Gly1124=)
c.1683T>G (p.Gly561=)
1g.99900697G>ACA341331046AGLc.3424G>A (p.Glu1142Lys)
n.3635G>A
c.3376G>A (p.Glu1126Lys)
c.3373G>A (p.Glu1125Lys)
c.1684G>A (p.Glu562Lys)
1g.99900697G>CCA341331058AGLc.3424G>C (p.Glu1142Gln)
n.3635G>C
c.3376G>C (p.Glu1126Gln)
c.3373G>C (p.Glu1125Gln)
c.1684G>C (p.Glu562Gln)
1g.99900697G>TCA341331060AGLc.3424G>T (p.Glu1142Ter)
n.3635G>T
c.3376G>T (p.Glu1126Ter)
c.3373G>T (p.Glu1125Ter)
c.1684G>T (p.Glu562Ter)
1g.99900698A>CCA341331062AGLc.3425A>C (p.Glu1142Ala)
n.3636A>C
c.3377A>C (p.Glu1126Ala)
c.3374A>C (p.Glu1125Ala)
c.1685A>C (p.Glu562Ala)
1g.99900698A>GCA341331066AGLc.3425A>G (p.Glu1142Gly)
n.3636A>G
c.3377A>G (p.Glu1126Gly)
c.3374A>G (p.Glu1125Gly)
c.1685A>G (p.Glu562Gly)
1g.99900698A>TCA341331068AGLc.3425A>T (p.Glu1142Val)
n.3636A>T
c.3377A>T (p.Glu1126Val)
c.3374A>T (p.Glu1125Val)
c.1685A>T (p.Glu562Val)
1g.99900699A>CCA341331083AGLc.3426A>C (p.Glu1142Asp)
n.3637A>C
c.3378A>C (p.Glu1126Asp)
c.3375A>C (p.Glu1125Asp)
c.1686A>C (p.Glu562Asp)
1g.99900699A>GCA419314610AGLc.3426A>G (p.Glu1142=)
n.3637A>G
c.3378A>G (p.Glu1126=)
c.3375A>G (p.Glu1125=)
c.1686A>G (p.Glu562=)
1g.99900699A>TCA341331080AGLc.3426A>T (p.Glu1142Asp)
n.3637A>T
c.3378A>T (p.Glu1126Asp)
c.3375A>T (p.Glu1125Asp)
c.1686A>T (p.Glu562Asp)
1g.99900700G>ACA341331084AGLc.3427G>A (p.Gly1143Arg)
n.3638G>A
c.3379G>A (p.Gly1127Arg)
c.3376G>A (p.Gly1126Arg)
c.1687G>A (p.Gly563Arg)
1g.99900700G>CCA341331085AGLc.3427G>C (p.Gly1143Arg)
n.3638G>C
c.3379G>C (p.Gly1127Arg)
c.3376G>C (p.Gly1126Arg)
c.1687G>C (p.Gly563Arg)
 gnomAD v4
1g.99900700G>TCA341331087AGLc.3427G>T (p.Gly1143Ter)
n.3638G>T
c.3379G>T (p.Gly1127Ter)
c.3376G>T (p.Gly1126Ter)
c.1687G>T (p.Gly563Ter)
1g.99900701G>ACA341331090AGLc.3428G>A (p.Gly1143Glu)
n.3639G>A
c.3380G>A (p.Gly1127Glu)
c.3377G>A (p.Gly1126Glu)
c.1688G>A (p.Gly563Glu)
1g.99900701G>CCA341331092AGLc.3428G>C (p.Gly1143Ala)
n.3639G>C
c.3380G>C (p.Gly1127Ala)
c.3377G>C (p.Gly1126Ala)
c.1688G>C (p.Gly563Ala)
1g.99900701G=CA1183937260AGLc.3428G= (p.Gly1143=)
n.3639G=
c.3380G= (p.Gly1127=)
c.3377G= (p.Gly1126=)
c.1688G= (p.Gly563=)
1g.99900701G>TCA967078AGLc.3428G>T (p.Gly1143Val)
n.3639G>T
c.3380G>T (p.Gly1127Val)
c.3377G>T (p.Gly1126Val)
c.1688G>T (p.Gly563Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99900702A>CCA419314611AGLc.3429A>C (p.Gly1143=)
n.3640A>C
c.3381A>C (p.Gly1127=)
c.3378A>C (p.Gly1126=)
c.1689A>C (p.Gly563=)
1g.99900702A>GCA419314612AGLc.3429A>G (p.Gly1143=)
n.3640A>G
c.3381A>G (p.Gly1127=)
c.3378A>G (p.Gly1126=)
c.1689A>G (p.Gly563=)
1g.99900702A>TCA419314613AGLc.3429A>T (p.Gly1143=)
n.3640A>T
c.3381A>T (p.Gly1127=)
c.3378A>T (p.Gly1126=)
c.1689A>T (p.Gly563=)
1g.99900703A=CA1183937261AGLc.3430A= (p.Ile1144=)
n.3641A=
c.3382A= (p.Ile1128=)
c.3379A= (p.Ile1127=)
c.1690A= (p.Ile564=)
1g.99900703A>CCA341331101AGLc.3430A>C (p.Ile1144Leu)
n.3641A>C
c.3382A>C (p.Ile1128Leu)
c.3379A>C (p.Ile1127Leu)
c.1690A>C (p.Ile564Leu)
1g.99900703A>GCA341331118AGLc.3430A>G (p.Ile1144Val)
n.3641A>G
c.3382A>G (p.Ile1128Val)
c.3379A>G (p.Ile1127Val)
c.1690A>G (p.Ile564Val)
 dbSNP gnomAD v4
1g.99900703A>TCA341331109AGLc.3430A>T (p.Ile1144Phe)
n.3641A>T
c.3382A>T (p.Ile1128Phe)
c.3379A>T (p.Ile1127Phe)
c.1690A>T (p.Ile564Phe)
1g.99900704T>ACA967079AGLc.3431T>A (p.Ile1144Asn)
n.3642T>A
c.3383T>A (p.Ile1128Asn)
c.3380T>A (p.Ile1127Asn)
c.1691T>A (p.Ile564Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99900704T>CCA27539282AGLc.3431T>C (p.Ile1144Thr)
n.3642T>C
c.3383T>C (p.Ile1128Thr)
c.3380T>C (p.Ile1127Thr)
c.1691T>C (p.Ile564Thr)
 ClinVar
1g.99900704T>GCA341331127AGLc.3431T>G (p.Ile1144Ser)
n.3642T>G
c.3383T>G (p.Ile1128Ser)
c.3380T>G (p.Ile1127Ser)
c.1691T>G (p.Ile564Ser)
1g.99900704T=CA1139921711AGLc.3431T= (p.Ile1144=)
n.3642T=
c.3383T= (p.Ile1128=)
c.3380T= (p.Ile1127=)
c.1691T= (p.Ile564=)
1g.99900705T>ACA419314614AGLc.3432T>A (p.Ile1144=)
n.3643T>A
c.3384T>A (p.Ile1128=)
c.3381T>A (p.Ile1127=)
c.1692T>A (p.Ile564=)
1g.99900705T>CCA419314615AGLc.3432T>C (p.Ile1144=)
n.3643T>C
c.3384T>C (p.Ile1128=)
c.3381T>C (p.Ile1127=)
c.1692T>C (p.Ile564=)
1g.99900705T>GCA341331139AGLc.3432T>G (p.Ile1144Met)
n.3643T>G
c.3384T>G (p.Ile1128Met)
c.3381T>G (p.Ile1127Met)
c.1692T>G (p.Ile564Met)
1g.99900706T>ACA341331146AGLc.3433T>A (p.Tyr1145Asn)
n.3644T>A
c.3385T>A (p.Tyr1129Asn)
c.3382T>A (p.Tyr1128Asn)
c.1693T>A (p.Tyr565Asn)
1g.99900706T>CCA341331152AGLc.3433T>C (p.Tyr1145His)
n.3644T>C
c.3385T>C (p.Tyr1129His)
c.3382T>C (p.Tyr1128His)
c.1693T>C (p.Tyr565His)
1g.99900706T>GCA341331159AGLc.3433T>G (p.Tyr1145Asp)
n.3644T>G
c.3385T>G (p.Tyr1129Asp)
c.3382T>G (p.Tyr1128Asp)
c.1693T>G (p.Tyr565Asp)
1g.99900707_99900708delCA2580063592AGLc.3434_3435del (p.Tyr1145CysfsTer21)
n.3645_3646del
c.3386_3387del (p.Tyr1129CysfsTer21)
c.3383_3384del (p.Tyr1128CysfsTer21)
c.1694_1695del (p.Tyr565CysfsTer21)
 ClinVar gnomAD v4
1g.99900707A>CCA341331166AGLc.3434A>C (p.Tyr1145Ser)
n.3645A>C
c.3386A>C (p.Tyr1129Ser)
c.3383A>C (p.Tyr1128Ser)
c.1694A>C (p.Tyr565Ser)
1g.99900707A>GCA341331170AGLc.3434A>G (p.Tyr1145Cys)
n.3645A>G
c.3386A>G (p.Tyr1129Cys)
c.3383A>G (p.Tyr1128Cys)
c.1694A>G (p.Tyr565Cys)
 dbSNP
1g.99900707A>TCA341331174AGLc.3434A>T (p.Tyr1145Phe)
n.3645A>T
c.3386A>T (p.Tyr1129Phe)
c.3383A>T (p.Tyr1128Phe)
c.1694A>T (p.Tyr565Phe)
1g.99900708T>ACA341331179AGLc.3435T>A (p.Tyr1145Ter)
n.3646T>A
c.3387T>A (p.Tyr1129Ter)
c.3384T>A (p.Tyr1128Ter)
c.1695T>A (p.Tyr565Ter)
1g.99900708T>CCA419314616AGLc.3435T>C (p.Tyr1145=)
n.3646T>C
c.3387T>C (p.Tyr1129=)
c.3384T>C (p.Tyr1128=)
c.1695T>C (p.Tyr565=)
1g.99900708T>GCA341331191AGLc.3435T>G (p.Tyr1145Ter)
n.3646T>G
c.3387T>G (p.Tyr1129Ter)
c.3384T>G (p.Tyr1128Ter)
c.1695T>G (p.Tyr565Ter)
1g.99900709G>ACA967080AGLc.3436G>A (p.Ala1146Thr)
n.3647G>A
c.3388G>A (p.Ala1130Thr)
c.3385G>A (p.Ala1129Thr)
c.1696G>A (p.Ala566Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99900709G>CCA341331206AGLc.3436G>C (p.Ala1146Pro)
n.3647G>C
c.3388G>C (p.Ala1130Pro)
c.3385G>C (p.Ala1129Pro)
c.1696G>C (p.Ala566Pro)
1g.99900709G=CA1183937262AGLc.3436G= (p.Ala1146=)
n.3647G=
c.3388G= (p.Ala1130=)
c.3385G= (p.Ala1129=)
c.1696G= (p.Ala566=)
1g.99900709G>TCA341331194AGLc.3436G>T (p.Ala1146Ser)
n.3647G>T
c.3388G>T (p.Ala1130Ser)
c.3385G>T (p.Ala1129Ser)
c.1696G>T (p.Ala566Ser)
1g.99900710C>ACA341331210AGLc.3437C>A (p.Ala1146Asp)
n.3648C>A
c.3389C>A (p.Ala1130Asp)
c.3386C>A (p.Ala1129Asp)
c.1697C>A (p.Ala566Asp)
 gnomAD v4
1g.99900710C=CA1183937263AGLc.3437C= (p.Ala1146=)
n.3648C=
c.3389C= (p.Ala1130=)
c.3386C= (p.Ala1129=)
c.1697C= (p.Ala566=)
1g.99900710C>GCA341331213AGLc.3437C>G (p.Ala1146Gly)
n.3648C>G
c.3389C>G (p.Ala1130Gly)
c.3386C>G (p.Ala1129Gly)
c.1697C>G (p.Ala566Gly)
1g.99900710C>TCA27539313AGLc.3437C>T (p.Ala1146Val)
n.3648C>T
c.3389C>T (p.Ala1130Val)
c.3386C>T (p.Ala1129Val)
c.1697C>T (p.Ala566Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99900711C>ACA419314617AGLc.3438C>A (p.Ala1146=)
n.3649C>A
c.3390C>A (p.Ala1130=)
c.3387C>A (p.Ala1129=)
c.1698C>A (p.Ala566=)
1g.99900711C>GCA419314618AGLc.3438C>G (p.Ala1146=)
n.3649C>G
c.3390C>G (p.Ala1130=)
c.3387C>G (p.Ala1129=)
c.1698C>G (p.Ala566=)
1g.99900711C>TCA419314619AGLc.3438C>T (p.Ala1146=)
n.3649C>T
c.3390C>T (p.Ala1130=)
c.3387C>T (p.Ala1129=)
c.1698C>T (p.Ala566=)
 gnomAD v4
1g.99900712A=CA1143538198AGLc.3439A= (p.Arg1147=)
n.3650A=
c.3391A= (p.Arg1131=)
c.3388A= (p.Arg1130=)
c.1699A= (p.Arg567=)
1g.99900712A>CCA419314620AGLc.3439A>C (p.Arg1147=)
n.3650A>C
c.3391A>C (p.Arg1131=)
c.3388A>C (p.Arg1130=)
c.1699A>C (p.Arg567=)
1g.99900712A>GCA114767AGLc.3439A>G (p.Arg1147Gly)
n.3650A>G
c.3391A>G (p.Arg1131Gly)
c.3388A>G (p.Arg1130Gly)
c.1699A>G (p.Arg567Gly)
 ClinVar dbSNP gnomAD v4
1g.99900712A>TCA341331218AGLc.3439A>T (p.Arg1147Ter)
n.3650A>T
c.3391A>T (p.Arg1131Ter)
c.3388A>T (p.Arg1130Ter)
c.1699A>T (p.Arg567Ter)
 ClinVar dbSNP
1g.99900713G>ACA341331244AGLc.3440G>A (p.Arg1147Lys)
n.3651G>A
c.3392G>A (p.Arg1131Lys)
c.3389G>A (p.Arg1130Lys)
c.1700G>A (p.Arg567Lys)
1g.99900713G>CCA341331227AGLc.3440G>C (p.Arg1147Thr)
n.3651G>C
c.3392G>C (p.Arg1131Thr)
c.3389G>C (p.Arg1130Thr)
c.1700G>C (p.Arg567Thr)
 dbSNP gnomAD v2 gnomAD v4
1g.99900713G=CA1183937265AGLc.3440G= (p.Arg1147=)
n.3651G=
c.3392G= (p.Arg1131=)
c.3389G= (p.Arg1130=)
c.1700G= (p.Arg567=)
1g.99900713G>TCA341331239AGLc.3440G>T (p.Arg1147Ile)
n.3651G>T
c.3392G>T (p.Arg1131Ile)
c.3389G>T (p.Arg1130Ile)
c.1700G>T (p.Arg567Ile)
1g.99900713_99900714delinsGACA1183937264AGLc.3440_3441delinsGA (p.Arg1147=)
n.3651_3652delinsGA
c.3392_3393delinsGA (p.Arg1131=)
c.3389_3390delinsGA (p.Arg1130=)
c.1700_1701delinsGA (p.Arg567=)
1g.99900714delCA1139656256AGLc.3441del (p.Arg1147SerfsTer26)
n.3652del
c.3393del (p.Arg1131SerfsTer26)
c.3390del (p.Arg1130SerfsTer26)
c.1701del (p.Arg567SerfsTer26)
 ClinVar dbSNP
1g.99900714A>CCA341331255AGLc.3441A>C (p.Arg1147Ser)
n.3652A>C
c.3393A>C (p.Arg1131Ser)
c.3390A>C (p.Arg1130Ser)
c.1701A>C (p.Arg567Ser)
1g.99900714A>GCA419314621AGLc.3441A>G (p.Arg1147=)
n.3652A>G
c.3393A>G (p.Arg1131=)
c.3390A>G (p.Arg1130=)
c.1701A>G (p.Arg567=)
1g.99900714A>TCA341331259AGLc.3441A>T (p.Arg1147Ser)
n.3652A>T
c.3393A>T (p.Arg1131Ser)
c.3390A>T (p.Arg1130Ser)
c.1701A>T (p.Arg567Ser)
1g.99900715T>ACA341331260AGLc.3442T>A (p.Tyr1148Asn)
n.3653T>A
c.3394T>A (p.Tyr1132Asn)
c.3391T>A (p.Tyr1131Asn)
c.1702T>A (p.Tyr568Asn)
1g.99900715T>CCA341331261AGLc.3442T>C (p.Tyr1148His)
n.3653T>C
c.3394T>C (p.Tyr1132His)
c.3391T>C (p.Tyr1131His)
c.1702T>C (p.Tyr568His)
1g.99900715T>GCA341331262AGLc.3442T>G (p.Tyr1148Asp)
n.3653T>G
c.3394T>G (p.Tyr1132Asp)
c.3391T>G (p.Tyr1131Asp)
c.1702T>G (p.Tyr568Asp)
1g.99900715T=CA1183937266AGLc.3442T= (p.Tyr1148=)
n.3653T=
c.3394T= (p.Tyr1132=)
c.3391T= (p.Tyr1131=)
c.1702T= (p.Tyr568=)
1g.99900716A>CCA341331283AGLc.3443A>C (p.Tyr1148Ser)
n.3654A>C
c.3395A>C (p.Tyr1132Ser)
c.3392A>C (p.Tyr1131Ser)
c.1703A>C (p.Tyr568Ser)
1g.99900716A>GCA341331266AGLc.3443A>G (p.Tyr1148Cys)
n.3654A>G
c.3395A>G (p.Tyr1132Cys)
c.3392A>G (p.Tyr1131Cys)
c.1703A>G (p.Tyr568Cys)
 ClinVar
1g.99900716A>TCA341331274AGLc.3443A>T (p.Tyr1148Phe)
n.3654A>T
c.3395A>T (p.Tyr1132Phe)
c.3392A>T (p.Tyr1131Phe)
c.1703A>T (p.Tyr568Phe)
1g.99900716dupCA16040844AGLc.3443dup (p.Tyr1148Ter)
n.3654dup
c.3395dup (p.Tyr1132Ter)
c.3392dup (p.Tyr1131Ter)
c.1703dup (p.Tyr568Ter)
 ClinVar dbSNP
1g.99900717C>ACA967081AGLc.3444C>A (p.Tyr1148Ter)
n.3655C>A
c.3396C>A (p.Tyr1132Ter)
c.3393C>A (p.Tyr1131Ter)
c.1704C>A (p.Tyr568Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99900717C=CA1183937267AGLc.3444C= (p.Tyr1148=)
n.3655C=
c.3396C= (p.Tyr1132=)
c.3393C= (p.Tyr1131=)
c.1704C= (p.Tyr568=)
1g.99900717C>GCA274158AGLc.3444C>G (p.Tyr1148Ter)
n.3655C>G
c.3396C>G (p.Tyr1132Ter)
c.3393C>G (p.Tyr1131Ter)
c.1704C>G (p.Tyr568Ter)
 ClinVar dbSNP gnomAD v4
1g.99900717C>TCA419314622AGLc.3444C>T (p.Tyr1148=)
n.3655C>T
c.3396C>T (p.Tyr1132=)
c.3393C>T (p.Tyr1131=)
c.1704C>T (p.Tyr568=)
 ClinVar dbSNP
1g.99900718A>CCA341331302AGLc.3445A>C (p.Asn1149His)
n.3656A>C
c.3397A>C (p.Asn1133His)
c.3394A>C (p.Asn1132His)
c.1705A>C (p.Asn569His)
1g.99900718A>GCA341331303AGLc.3445A>G (p.Asn1149Asp)
n.3656A>G
c.3397A>G (p.Asn1133Asp)
c.3394A>G (p.Asn1132Asp)
c.1705A>G (p.Asn569Asp)
1g.99900718A>TCA341331304AGLc.3445A>T (p.Asn1149Tyr)
n.3656A>T
c.3397A>T (p.Asn1133Tyr)
c.3394A>T (p.Asn1132Tyr)
c.1705A>T (p.Asn569Tyr)
1g.99900719dupCA2586967152AGLc.3446dup (p.Asn1149LysfsTer18)
n.3657dup
c.3398dup (p.Asn1133LysfsTer18)
c.3395dup (p.Asn1132LysfsTer18)
c.1706dup (p.Asn569LysfsTer18)
1g.99900719A=CA1183937268AGLc.3446A= (p.Asn1149=)
n.3657A=
c.3398A= (p.Asn1133=)
c.3395A= (p.Asn1132=)
c.1706A= (p.Asn569=)
1g.99900719A>CCA341331305AGLc.3446A>C (p.Asn1149Thr)
n.3657A>C
c.3398A>C (p.Asn1133Thr)
c.3395A>C (p.Asn1132Thr)
c.1706A>C (p.Asn569Thr)
1g.99900719A>GCA341331306AGLc.3446A>G (p.Asn1149Ser)
n.3657A>G
c.3398A>G (p.Asn1133Ser)
c.3395A>G (p.Asn1132Ser)
c.1706A>G (p.Asn569Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99900719A>TCA341331309AGLc.3446A>T (p.Asn1149Ile)
n.3657A>T
c.3398A>T (p.Asn1133Ile)
c.3395A>T (p.Asn1132Ile)
c.1706A>T (p.Asn569Ile)
1g.99900720T>ACA341331327AGLc.3447T>A (p.Asn1149Lys)
n.3658T>A
c.3399T>A (p.Asn1133Lys)
c.3396T>A (p.Asn1132Lys)
c.1707T>A (p.Asn569Lys)
1g.99900720T>CCA419314623AGLc.3447T>C (p.Asn1149=)
n.3658T>C
c.3399T>C (p.Asn1133=)
c.3396T>C (p.Asn1132=)
c.1707T>C (p.Asn569=)
1g.99900720T>GCA341331328AGLc.3447T>G (p.Asn1149Lys)
n.3658T>G
c.3399T>G (p.Asn1133Lys)
c.3396T>G (p.Asn1132Lys)
c.1707T>G (p.Asn569Lys)
1g.99900721T>ACA341331329AGLc.3448T>A (p.Cys1150Ser)
n.3659T>A
c.3400T>A (p.Cys1134Ser)
c.3397T>A (p.Cys1133Ser)
c.1708T>A (p.Cys570Ser)
1g.99900721T>CCA341331335AGLc.3448T>C (p.Cys1150Arg)
n.3659T>C
c.3400T>C (p.Cys1134Arg)
c.3397T>C (p.Cys1133Arg)
c.1708T>C (p.Cys570Arg)
1g.99900721T>GCA341331342AGLc.3448T>G (p.Cys1150Gly)
n.3659T>G
c.3400T>G (p.Cys1134Gly)
c.3397T>G (p.Cys1133Gly)
c.1708T>G (p.Cys570Gly)
1g.99900722G>ACA341331345AGLc.3449G>A (p.Cys1150Tyr)
n.3660G>A
c.3401G>A (p.Cys1134Tyr)
c.3398G>A (p.Cys1133Tyr)
c.1709G>A (p.Cys570Tyr)
1g.99900722G>CCA341331346AGLc.3449G>C (p.Cys1150Ser)
n.3660G>C
c.3401G>C (p.Cys1134Ser)
c.3398G>C (p.Cys1133Ser)
c.1709G>C (p.Cys570Ser)
1g.99900722G>TCA341331347AGLc.3449G>T (p.Cys1150Phe)
n.3660G>T
c.3401G>T (p.Cys1134Phe)
c.3398G>T (p.Cys1133Phe)
c.1709G>T (p.Cys570Phe)
1g.99900723T>ACA341331349AGLc.3450T>A (p.Cys1150Ter)
n.3661T>A
c.3402T>A (p.Cys1134Ter)
c.3399T>A (p.Cys1133Ter)
c.1710T>A (p.Cys570Ter)
 ClinVar
1g.99900723T>CCA419314624AGLc.3450T>C (p.Cys1150=)
n.3661T>C
c.3402T>C (p.Cys1134=)
c.3399T>C (p.Cys1133=)
c.1710T>C (p.Cys570=)
1g.99900723T>GCA341331350AGLc.3450T>G (p.Cys1150Trp)
n.3661T>G
c.3402T>G (p.Cys1134Trp)
c.3399T>G (p.Cys1133Trp)
c.1710T>G (p.Cys570Trp)
1g.99900724C>ACA419314625AGLc.3451C>A (p.Arg1151=)
n.3662C>A
c.3403C>A (p.Arg1135=)
c.3400C>A (p.Arg1134=)
c.1711C>A (p.Arg571=)
1g.99900724C=CA1143753490AGLc.3451C= (p.Arg1151=)
n.3662C=
c.3403C= (p.Arg1135=)
c.3400C= (p.Arg1134=)
c.1711C= (p.Arg571=)
1g.99900724C>GCA341331362AGLc.3451C>G (p.Arg1151Gly)
n.3662C>G
c.3403C>G (p.Arg1135Gly)
c.3400C>G (p.Arg1134Gly)
c.1711C>G (p.Arg571Gly)
1g.99900724C>TCA967082AGLc.3451C>T (p.Arg1151Trp)
n.3662C>T
c.3403C>T (p.Arg1135Trp)
c.3400C>T (p.Arg1134Trp)
c.1711C>T (p.Arg571Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99900725G>ACA967083AGLc.3452G>A (p.Arg1151Gln)
n.3663G>A
c.3404G>A (p.Arg1135Gln)
c.3401G>A (p.Arg1134Gln)
c.1712G>A (p.Arg571Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.99900725G>CCA341331375AGLc.3452G>C (p.Arg1151Pro)
n.3663G>C
c.3404G>C (p.Arg1135Pro)
c.3401G>C (p.Arg1134Pro)
c.1712G>C (p.Arg571Pro)
1g.99900725G=CA1144101309AGLc.3452G= (p.Arg1151=)
n.3663G=
c.3404G= (p.Arg1135=)
c.3401G= (p.Arg1134=)
c.1712G= (p.Arg571=)
1g.99900725G>TCA341331376AGLc.3452G>T (p.Arg1151Leu)
n.3663G>T
c.3404G>T (p.Arg1135Leu)
c.3401G>T (p.Arg1134Leu)
c.1712G>T (p.Arg571Leu)
1g.99900726G>ACA419314626AGLc.3453G>A (p.Arg1151=)
n.3664G>A
c.3405G>A (p.Arg1135=)
c.3402G>A (p.Arg1134=)
c.1713G>A (p.Arg571=)
1g.99900726G>CCA419314627AGLc.3453G>C (p.Arg1151=)
n.3664G>C
c.3405G>C (p.Arg1135=)
c.3402G>C (p.Arg1134=)
c.1713G>C (p.Arg571=)
1g.99900726G>TCA419314628AGLc.3453G>T (p.Arg1151=)
n.3664G>T
c.3405G>T (p.Arg1135=)
c.3402G>T (p.Arg1134=)
c.1713G>T (p.Arg571=)
1g.99900727G>ACA967084AGLc.3454G>A (p.Asp1152Asn)
n.3665G>A
c.3406G>A (p.Asp1136Asn)
c.3403G>A (p.Asp1135Asn)
c.1714G>A (p.Asp572Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99900727G>CCA341331384AGLc.3454G>C (p.Asp1152His)
n.3665G>C
c.3406G>C (p.Asp1136His)
c.3403G>C (p.Asp1135His)
c.1714G>C (p.Asp572His)
1g.99900727G=CA1143467032AGLc.3454G= (p.Asp1152=)
n.3665G=
c.3406G= (p.Asp1136=)
c.3403G= (p.Asp1135=)
c.1714G= (p.Asp572=)
1g.99900727G>TCA341331388AGLc.3454G>T (p.Asp1152Tyr)
n.3665G>T
c.3406G>T (p.Asp1136Tyr)
c.3403G>T (p.Asp1135Tyr)
c.1714G>T (p.Asp572Tyr)
 gnomAD v4
1g.99900728A>CCA341331394AGLc.3455A>C (p.Asp1152Ala)
n.3666A>C
c.3407A>C (p.Asp1136Ala)
c.3404A>C (p.Asp1135Ala)
c.1715A>C (p.Asp572Ala)
1g.99900728A>GCA341331396AGLc.3455A>G (p.Asp1152Gly)
n.3666A>G
c.3407A>G (p.Asp1136Gly)
c.3404A>G (p.Asp1135Gly)
c.1715A>G (p.Asp572Gly)
1g.99900728A>TCA341331397AGLc.3455A>T (p.Asp1152Val)
n.3666A>T
c.3407A>T (p.Asp1136Val)
c.3404A>T (p.Asp1135Val)
c.1715A>T (p.Asp572Val)
 gnomAD v4

Number of alleles fetched