Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.10404476_10404497dupCA2677252884TFAP2Ac.746+11_746+32dup (n.746+11_746+32dup)
c.770+11_770+32dup (n.770+11_770+32dup)
c.*261+11_*261+32dup (n.*261+11_*261+32dup)
c.335+11_335+32dup (n.335+11_335+32dup)
c.752+11_752+32dup (n.752+11_752+32dup)
c.87+11_87+32dup
c.764+11_764+32dup (n.764+11_764+32dup)
c.478+11_478+32dup
n.764+11_764+32dup
n.735+11_735+32dup
c.899+11_899+32dup (n.899+11_899+32dup)
c.614+11_614+32dup (n.614+11_614+32dup)
c.1010+11_1010+32dup (n.1010+11_1010+32dup)
 gnomAD v4
6g.10404482_10404501dupCA2677252888TFAP2Ac.746+11_746+30dup (n.746+11_746+30dup)
c.770+11_770+30dup (n.770+11_770+30dup)
c.*261+11_*261+30dup (n.*261+11_*261+30dup)
c.335+11_335+30dup (n.335+11_335+30dup)
c.752+11_752+30dup (n.752+11_752+30dup)
c.87+11_87+30dup
c.764+11_764+30dup (n.764+11_764+30dup)
c.478+11_478+30dup
n.764+11_764+30dup
n.735+11_735+30dup
c.899+11_899+30dup (n.899+11_899+30dup)
c.614+11_614+30dup (n.614+11_614+30dup)
c.1010+11_1010+30dup (n.1010+11_1010+30dup)
 gnomAD v4
6g.10404488_10404502dupCA1609976690TFAP2Ac.746+11_746+25dup (n.746+11_746+25dup)
c.770+11_770+25dup (n.770+11_770+25dup)
c.*261+11_*261+25dup (n.*261+11_*261+25dup)
c.335+11_335+25dup (n.335+11_335+25dup)
c.752+11_752+25dup (n.752+11_752+25dup)
c.87+11_87+25dup
c.764+11_764+25dup (n.764+11_764+25dup)
c.478+11_478+25dup
n.764+11_764+25dup
n.735+11_735+25dup
c.899+11_899+25dup (n.899+11_899+25dup)
c.614+11_614+25dup (n.614+11_614+25dup)
c.1010+11_1010+25dup (n.1010+11_1010+25dup)
 dbSNP gnomAD v4
6g.10404494_10404503dupCA816513858TFAP2Ac.746+10_746+19dup (n.746+10_746+19dup)
c.770+10_770+19dup (n.770+10_770+19dup)
c.*261+10_*261+19dup (n.*261+10_*261+19dup)
c.335+10_335+19dup (n.335+10_335+19dup)
c.752+10_752+19dup (n.752+10_752+19dup)
c.87+10_87+19dup
c.764+10_764+19dup (n.764+10_764+19dup)
c.478+10_478+19dup
n.764+10_764+19dup
n.735+10_735+19dup
c.899+10_899+19dup (n.899+10_899+19dup)
c.614+10_614+19dup (n.614+10_614+19dup)
c.1010+10_1010+19dup (n.1010+10_1010+19dup)
 dbSNP gnomAD v4
6g.10404489_10404503dupCA3631253TFAP2Ac.746+5_746+19dup (n.746+5_746+19dup)
c.770+5_770+19dup (n.770+5_770+19dup)
c.*261+5_*261+19dup (n.*261+5_*261+19dup)
c.335+5_335+19dup (n.335+5_335+19dup)
c.752+5_752+19dup (n.752+5_752+19dup)
c.87+5_87+19dup
c.764+5_764+19dup (n.764+5_764+19dup)
c.478+5_478+19dup
n.764+5_764+19dup
n.735+5_735+19dup
c.899+5_899+19dup (n.899+5_899+19dup)
c.614+5_614+19dup (n.614+5_614+19dup)
c.1010+5_1010+19dup (n.1010+5_1010+19dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.10404490_10404504dupCA565485014TFAP2Ac.746+4_746+18dup (n.746+4_746+18dup)
c.770+4_770+18dup (n.770+4_770+18dup)
c.*261+4_*261+18dup (n.*261+4_*261+18dup)
c.335+4_335+18dup (n.335+4_335+18dup)
c.752+4_752+18dup (n.752+4_752+18dup)
c.87+4_87+18dup
c.764+4_764+18dup (n.764+4_764+18dup)
c.478+4_478+18dup
n.764+4_764+18dup
n.735+4_735+18dup
c.899+4_899+18dup (n.899+4_899+18dup)
c.614+4_614+18dup (n.614+4_614+18dup)
c.1010+4_1010+18dup (n.1010+4_1010+18dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404495_10404499dupCA3631254TFAP2Ac.746+13_746+17dup (n.746+13_746+17dup)
c.770+13_770+17dup (n.770+13_770+17dup)
c.*261+13_*261+17dup (n.*261+13_*261+17dup)
c.335+13_335+17dup (n.335+13_335+17dup)
c.752+13_752+17dup (n.752+13_752+17dup)
c.87+13_87+17dup
c.764+13_764+17dup (n.764+13_764+17dup)
c.478+13_478+17dup
n.764+13_764+17dup
n.735+13_735+17dup
c.899+13_899+17dup (n.899+13_899+17dup)
c.614+13_614+17dup (n.614+13_614+17dup)
c.1010+13_1010+17dup (n.1010+13_1010+17dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404497C>ACA565485020TFAP2Ac.746+11G>T (n.746+11G>T)
c.770+11G>T (n.770+11G>T)
c.*261+11G>T (n.*261+11G>T)
c.335+11G>T (n.335+11G>T)
c.752+11G>T (n.752+11G>T)
c.87+11G>T
c.764+11G>T (n.764+11G>T)
c.478+11G>T
n.764+11G>T
n.735+11G>T
c.899+11G>T (n.899+11G>T)
c.614+11G>T (n.614+11G>T)
c.1010+11G>T (n.1010+11G>T)
 dbSNP gnomAD v2 gnomAD v4
6g.10404497C=CA1609976710TFAP2Ac.746+11G= (n.746+11G=)
c.770+11G= (n.770+11G=)
c.*261+11G= (n.*261+11G=)
c.335+11G= (n.335+11G=)
c.752+11G= (n.752+11G=)
c.87+11G=
c.764+11G= (n.764+11G=)
c.478+11G=
n.764+11G=
n.735+11G=
c.899+11G= (n.899+11G=)
c.614+11G= (n.614+11G=)
c.1010+11G= (n.1010+11G=)
6g.10404497C>GCA1085934162TFAP2Ac.746+11G>C (n.746+11G>C)
c.770+11G>C (n.770+11G>C)
c.*261+11G>C (n.*261+11G>C)
c.335+11G>C (n.335+11G>C)
c.752+11G>C (n.752+11G>C)
c.87+11G>C
c.764+11G>C (n.764+11G>C)
c.478+11G>C
n.764+11G>C
n.735+11G>C
c.899+11G>C (n.899+11G>C)
c.614+11G>C (n.614+11G>C)
c.1010+11G>C (n.1010+11G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.10404497C>TCA3631257TFAP2Ac.746+11G>A (n.746+11G>A)
c.770+11G>A (n.770+11G>A)
c.*261+11G>A (n.*261+11G>A)
c.335+11G>A (n.335+11G>A)
c.752+11G>A (n.752+11G>A)
c.87+11G>A
c.764+11G>A (n.764+11G>A)
c.478+11G>A
n.764+11G>A
n.735+11G>A
c.899+11G>A (n.899+11G>A)
c.614+11G>A (n.614+11G>A)
c.1010+11G>A (n.1010+11G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404498C>ACA565485023TFAP2Ac.746+10G>T (n.746+10G>T)
c.770+10G>T (n.770+10G>T)
c.*261+10G>T (n.*261+10G>T)
c.335+10G>T (n.335+10G>T)
c.752+10G>T (n.752+10G>T)
c.87+10G>T
c.764+10G>T (n.764+10G>T)
c.478+10G>T
n.764+10G>T
n.735+10G>T
c.899+10G>T (n.899+10G>T)
c.614+10G>T (n.614+10G>T)
c.1010+10G>T (n.1010+10G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404498C=CA1609976712TFAP2Ac.746+10G= (n.746+10G=)
c.770+10G= (n.770+10G=)
c.*261+10G= (n.*261+10G=)
c.335+10G= (n.335+10G=)
c.752+10G= (n.752+10G=)
c.87+10G=
c.764+10G= (n.764+10G=)
c.478+10G=
n.764+10G=
n.735+10G=
c.899+10G= (n.899+10G=)
c.614+10G= (n.614+10G=)
c.1010+10G= (n.1010+10G=)
6g.10404498C>GCA565485025TFAP2Ac.746+10G>C (n.746+10G>C)
c.770+10G>C (n.770+10G>C)
c.*261+10G>C (n.*261+10G>C)
c.335+10G>C (n.335+10G>C)
c.752+10G>C (n.752+10G>C)
c.87+10G>C
c.764+10G>C (n.764+10G>C)
c.478+10G>C
n.764+10G>C
n.735+10G>C
c.899+10G>C (n.899+10G>C)
c.614+10G>C (n.614+10G>C)
c.1010+10G>C (n.1010+10G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404498C>TCA1609976711TFAP2Ac.746+10G>A (n.746+10G>A)
c.770+10G>A (n.770+10G>A)
c.*261+10G>A (n.*261+10G>A)
c.335+10G>A (n.335+10G>A)
c.752+10G>A (n.752+10G>A)
c.87+10G>A
c.764+10G>A (n.764+10G>A)
c.478+10G>A
n.764+10G>A
n.735+10G>A
c.899+10G>A (n.899+10G>A)
c.614+10G>A (n.614+10G>A)
c.1010+10G>A (n.1010+10G>A)
 dbSNP gnomAD v4
6g.10404499G>ACA2677252911TFAP2Ac.746+9C>T (n.746+9C>T)
c.770+9C>T (n.770+9C>T)
c.*261+9C>T (n.*261+9C>T)
c.335+9C>T (n.335+9C>T)
c.752+9C>T (n.752+9C>T)
c.87+9C>T
c.764+9C>T (n.764+9C>T)
c.478+9C>T
n.764+9C>T
n.735+9C>T
c.899+9C>T (n.899+9C>T)
c.614+9C>T (n.614+9C>T)
c.1010+9C>T (n.1010+9C>T)
 gnomAD v4
6g.10404499G>CCA2578526490TFAP2Ac.746+9C>G (n.746+9C>G)
c.770+9C>G (n.770+9C>G)
c.*261+9C>G (n.*261+9C>G)
c.335+9C>G (n.335+9C>G)
c.752+9C>G (n.752+9C>G)
c.87+9C>G
c.764+9C>G (n.764+9C>G)
c.478+9C>G
n.764+9C>G
n.735+9C>G
c.899+9C>G (n.899+9C>G)
c.614+9C>G (n.614+9C>G)
c.1010+9C>G (n.1010+9C>G)
 gnomAD v4
6g.10404499G>TCA2677252912TFAP2Ac.746+9C>A (n.746+9C>A)
c.770+9C>A (n.770+9C>A)
c.*261+9C>A (n.*261+9C>A)
c.335+9C>A (n.335+9C>A)
c.752+9C>A (n.752+9C>A)
c.87+9C>A
c.764+9C>A (n.764+9C>A)
c.478+9C>A
n.764+9C>A
n.735+9C>A
c.899+9C>A (n.899+9C>A)
c.614+9C>A (n.614+9C>A)
c.1010+9C>A (n.1010+9C>A)
 gnomAD v4
6g.10404500G>ACA2677252913TFAP2Ac.746+8C>T (n.746+8C>T)
c.770+8C>T (n.770+8C>T)
c.*261+8C>T (n.*261+8C>T)
c.335+8C>T (n.335+8C>T)
c.752+8C>T (n.752+8C>T)
c.87+8C>T
c.764+8C>T (n.764+8C>T)
c.478+8C>T
n.764+8C>T
n.735+8C>T
c.899+8C>T (n.899+8C>T)
c.614+8C>T (n.614+8C>T)
c.1010+8C>T (n.1010+8C>T)
 gnomAD v4
6g.10404500G>CCA816513892TFAP2Ac.746+8C>G (n.746+8C>G)
c.770+8C>G (n.770+8C>G)
c.*261+8C>G (n.*261+8C>G)
c.335+8C>G (n.335+8C>G)
c.752+8C>G (n.752+8C>G)
c.87+8C>G
c.764+8C>G (n.764+8C>G)
c.478+8C>G
n.764+8C>G
n.735+8C>G
c.899+8C>G (n.899+8C>G)
c.614+8C>G (n.614+8C>G)
c.1010+8C>G (n.1010+8C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.10404500G=CA1609976713TFAP2Ac.746+8C= (n.746+8C=)
c.770+8C= (n.770+8C=)
c.*261+8C= (n.*261+8C=)
c.335+8C= (n.335+8C=)
c.752+8C= (n.752+8C=)
c.87+8C=
c.764+8C= (n.764+8C=)
c.478+8C=
n.764+8C=
n.735+8C=
c.899+8C= (n.899+8C=)
c.614+8C= (n.614+8C=)
c.1010+8C= (n.1010+8C=)
6g.10404500G>TCA2578526491TFAP2Ac.746+8C>A (n.746+8C>A)
c.770+8C>A (n.770+8C>A)
c.*261+8C>A (n.*261+8C>A)
c.335+8C>A (n.335+8C>A)
c.752+8C>A (n.752+8C>A)
c.87+8C>A
c.764+8C>A (n.764+8C>A)
c.478+8C>A
n.764+8C>A
n.735+8C>A
c.899+8C>A (n.899+8C>A)
c.614+8C>A (n.614+8C>A)
c.1010+8C>A (n.1010+8C>A)
6g.10404501G>ACA565485027TFAP2Ac.746+7C>T (n.746+7C>T)
c.770+7C>T (n.770+7C>T)
c.*261+7C>T (n.*261+7C>T)
c.335+7C>T (n.335+7C>T)
c.752+7C>T (n.752+7C>T)
c.87+7C>T
c.764+7C>T (n.764+7C>T)
c.478+7C>T
n.764+7C>T
n.735+7C>T
c.899+7C>T (n.899+7C>T)
c.614+7C>T (n.614+7C>T)
c.1010+7C>T (n.1010+7C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.10404501G>CCA1085934168TFAP2Ac.746+7C>G (n.746+7C>G)
c.770+7C>G (n.770+7C>G)
c.*261+7C>G (n.*261+7C>G)
c.335+7C>G (n.335+7C>G)
c.752+7C>G (n.752+7C>G)
c.87+7C>G
c.764+7C>G (n.764+7C>G)
c.478+7C>G
n.764+7C>G
n.735+7C>G
c.899+7C>G (n.899+7C>G)
c.614+7C>G (n.614+7C>G)
c.1010+7C>G (n.1010+7C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.10404501G=CA1609976714TFAP2Ac.746+7C= (n.746+7C=)
c.770+7C= (n.770+7C=)
c.*261+7C= (n.*261+7C=)
c.335+7C= (n.335+7C=)
c.752+7C= (n.752+7C=)
c.87+7C=
c.764+7C= (n.764+7C=)
c.478+7C=
n.764+7C=
n.735+7C=
c.899+7C= (n.899+7C=)
c.614+7C= (n.614+7C=)
c.1010+7C= (n.1010+7C=)
6g.10404501G>TCA565485028TFAP2Ac.746+7C>A (n.746+7C>A)
c.770+7C>A (n.770+7C>A)
c.*261+7C>A (n.*261+7C>A)
c.335+7C>A (n.335+7C>A)
c.752+7C>A (n.752+7C>A)
c.87+7C>A
c.764+7C>A (n.764+7C>A)
c.478+7C>A
n.764+7C>A
n.735+7C>A
c.899+7C>A (n.899+7C>A)
c.614+7C>A (n.614+7C>A)
c.1010+7C>A (n.1010+7C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.10404502C=CA1609976715TFAP2A,TFAP2A-AS2c.746+6G= (n.746+6G=)
c.770+6G= (n.770+6G=)
c.*261+6G= (n.*261+6G=)
c.335+6G= (n.335+6G=)
c.752+6G= (n.752+6G=)
c.87+6G=
c.764+6G= (n.764+6G=)
c.478+6G=
n.764+6G=
n.735+6G=
c.899+6G= (n.899+6G=)
c.614+6G= (n.614+6G=)
n.1C=
c.1010+6G= (n.1010+6G=)
6g.10404502C>TCA3631258TFAP2A,TFAP2A-AS2c.746+6G>A (n.746+6G>A)
c.770+6G>A (n.770+6G>A)
c.*261+6G>A (n.*261+6G>A)
c.335+6G>A (n.335+6G>A)
c.752+6G>A (n.752+6G>A)
c.87+6G>A
c.764+6G>A (n.764+6G>A)
c.478+6G>A
n.764+6G>A
n.735+6G>A
c.899+6G>A (n.899+6G>A)
c.614+6G>A (n.614+6G>A)
n.1C>T
c.1010+6G>A (n.1010+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404503delCA2677252914TFAP2A,TFAP2A-AS2c.746+6del (n.746+6del)
c.770+6del (n.770+6del)
c.*261+6del (n.*261+6del)
c.335+6del (n.335+6del)
c.752+6del (n.752+6del)
c.87+6del
c.764+6del (n.764+6del)
c.478+6del
n.764+6del
n.735+6del
c.899+6del (n.899+6del)
c.614+6del (n.614+6del)
n.2del
c.1010+6del (n.1010+6del)
 gnomAD v4
6g.10404503C>ACA2677252915TFAP2A,TFAP2A-AS2c.746+5G>T (n.746+5G>T)
c.770+5G>T (n.770+5G>T)
c.*261+5G>T (n.*261+5G>T)
c.335+5G>T (n.335+5G>T)
c.752+5G>T (n.752+5G>T)
c.87+5G>T
c.764+5G>T (n.764+5G>T)
c.478+5G>T
n.764+5G>T
n.735+5G>T
c.899+5G>T (n.899+5G>T)
c.614+5G>T (n.614+5G>T)
n.2C>A
c.1010+5G>T (n.1010+5G>T)
 gnomAD v4
6g.10404503C=CA1609976716TFAP2A,TFAP2A-AS2c.746+5G= (n.746+5G=)
c.770+5G= (n.770+5G=)
c.*261+5G= (n.*261+5G=)
c.335+5G= (n.335+5G=)
c.752+5G= (n.752+5G=)
c.87+5G=
c.764+5G= (n.764+5G=)
c.478+5G=
n.764+5G=
n.735+5G=
c.899+5G= (n.899+5G=)
c.614+5G= (n.614+5G=)
n.2C=
c.1010+5G= (n.1010+5G=)
6g.10404503C>TCA1609976717TFAP2A,TFAP2A-AS2c.746+5G>A (n.746+5G>A)
c.770+5G>A (n.770+5G>A)
c.*261+5G>A (n.*261+5G>A)
c.335+5G>A (n.335+5G>A)
c.752+5G>A (n.752+5G>A)
c.87+5G>A
c.764+5G>A (n.764+5G>A)
c.478+5G>A
n.764+5G>A
n.735+5G>A
c.899+5G>A (n.899+5G>A)
c.614+5G>A (n.614+5G>A)
n.2C>T
c.1010+5G>A (n.1010+5G>A)
 ClinVar dbSNP gnomAD v4
6g.10404504T>CCA2578526495TFAP2A,TFAP2A-AS2c.746+4A>G (n.746+4A>G)
c.770+4A>G (n.770+4A>G)
c.*261+4A>G (n.*261+4A>G)
c.335+4A>G (n.335+4A>G)
c.752+4A>G (n.752+4A>G)
c.87+4A>G
c.764+4A>G (n.764+4A>G)
c.478+4A>G
n.764+4A>G
n.735+4A>G
c.899+4A>G (n.899+4A>G)
c.614+4A>G (n.614+4A>G)
n.3T>C
c.1010+4A>G (n.1010+4A>G)
 gnomAD v4
6g.10404505C=CA1609976718TFAP2A,TFAP2A-AS2c.746+3G= (n.746+3G=)
c.770+3G= (n.770+3G=)
c.*261+3G= (n.*261+3G=)
c.335+3G= (n.335+3G=)
c.752+3G= (n.752+3G=)
c.87+3G=
c.764+3G= (n.764+3G=)
c.478+3G=
n.764+3G=
n.735+3G=
c.899+3G= (n.899+3G=)
c.614+3G= (n.614+3G=)
n.4C=
c.1010+3G= (n.1010+3G=)
6g.10404505C>TCA3631259TFAP2A,TFAP2A-AS2c.746+3G>A (n.746+3G>A)
c.770+3G>A (n.770+3G>A)
c.*261+3G>A (n.*261+3G>A)
c.335+3G>A (n.335+3G>A)
c.752+3G>A (n.752+3G>A)
c.87+3G>A
c.764+3G>A (n.764+3G>A)
c.478+3G>A
n.764+3G>A
n.735+3G>A
c.899+3G>A (n.899+3G>A)
c.614+3G>A (n.614+3G>A)
n.4C>T
c.1010+3G>A (n.1010+3G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.10404506A>CCA362701134TFAP2A,TFAP2A-AS2c.746+2T>G (n.746+2T>G)
c.770+2T>G (n.770+2T>G)
c.*261+2T>G (n.*261+2T>G)
c.335+2T>G (n.335+2T>G)
c.752+2T>G (n.752+2T>G)
c.87+2T>G
c.764+2T>G (n.764+2T>G)
c.478+2T>G
n.764+2T>G
n.735+2T>G
c.899+2T>G (n.899+2T>G)
c.614+2T>G (n.614+2T>G)
n.5A>C
c.1010+2T>G (n.1010+2T>G)
6g.10404506A>GCA362701135TFAP2A,TFAP2A-AS2c.746+2T>C (n.746+2T>C)
c.770+2T>C (n.770+2T>C)
c.*261+2T>C (n.*261+2T>C)
c.335+2T>C (n.335+2T>C)
c.752+2T>C (n.752+2T>C)
c.87+2T>C
c.764+2T>C (n.764+2T>C)
c.478+2T>C
n.764+2T>C
n.735+2T>C
c.899+2T>C (n.899+2T>C)
c.614+2T>C (n.614+2T>C)
n.5A>G
c.1010+2T>C (n.1010+2T>C)
6g.10404506A>TCA362701136TFAP2A,TFAP2A-AS2c.746+2T>A (n.746+2T>A)
c.770+2T>A (n.770+2T>A)
c.*261+2T>A (n.*261+2T>A)
c.335+2T>A (n.335+2T>A)
c.752+2T>A (n.752+2T>A)
c.87+2T>A
c.764+2T>A (n.764+2T>A)
c.478+2T>A
n.764+2T>A
n.735+2T>A
c.899+2T>A (n.899+2T>A)
c.614+2T>A (n.614+2T>A)
n.5A>T
c.1010+2T>A (n.1010+2T>A)
6g.10404507C>ACA362701137TFAP2A,TFAP2A-AS2c.746+1G>T (n.746+1G>T)
c.770+1G>T (n.770+1G>T)
c.*261+1G>T (n.*261+1G>T)
c.335+1G>T (n.335+1G>T)
c.752+1G>T (n.752+1G>T)
c.87+1G>T
c.764+1G>T (n.764+1G>T)
c.478+1G>T
n.764+1G>T
n.735+1G>T
c.899+1G>T (n.899+1G>T)
c.614+1G>T (n.614+1G>T)
n.6C>A
c.1010+1G>T (n.1010+1G>T)
6g.10404507C>GCA362701138TFAP2A,TFAP2A-AS2c.746+1G>C (n.746+1G>C)
c.770+1G>C (n.770+1G>C)
c.*261+1G>C (n.*261+1G>C)
c.335+1G>C (n.335+1G>C)
c.752+1G>C (n.752+1G>C)
c.87+1G>C
c.764+1G>C (n.764+1G>C)
c.478+1G>C
n.764+1G>C
n.735+1G>C
c.899+1G>C (n.899+1G>C)
c.614+1G>C (n.614+1G>C)
n.6C>G
c.1010+1G>C (n.1010+1G>C)
6g.10404507C>TCA362701139TFAP2A,TFAP2A-AS2c.746+1G>A (n.746+1G>A)
c.770+1G>A (n.770+1G>A)
c.*261+1G>A (n.*261+1G>A)
c.335+1G>A (n.335+1G>A)
c.752+1G>A (n.752+1G>A)
c.87+1G>A
c.764+1G>A (n.764+1G>A)
c.478+1G>A
n.764+1G>A
n.735+1G>A
c.899+1G>A (n.899+1G>A)
c.614+1G>A (n.614+1G>A)
n.6C>T
c.1010+1G>A (n.1010+1G>A)
6g.10404508C>ACA362701140TFAP2A,TFAP2A-AS2c.746G>T (p.Arg249Met)
c.770G>T (p.Arg257Met)
c.*261G>T (n.*261G>T)
c.335G>T (p.Arg112Met)
c.752G>T (p.Arg251Met)
c.87G>T
c.764G>T (p.Arg255Met)
c.478G>T
n.764G>T
n.735G>T
c.899G>T (p.Arg300Met)
c.614G>T (p.Arg205Met)
n.7C>A
c.1010G>T (p.Arg337Met)
6g.10404508C>GCA362701141TFAP2A,TFAP2A-AS2c.746G>C (p.Arg249Thr)
c.770G>C (p.Arg257Thr)
c.*261G>C (n.*261G>C)
c.335G>C (p.Arg112Thr)
c.752G>C (p.Arg251Thr)
c.87G>C
c.764G>C (p.Arg255Thr)
c.478G>C
n.764G>C
n.735G>C
c.899G>C (p.Arg300Thr)
c.614G>C (p.Arg205Thr)
n.7C>G
c.1010G>C (p.Arg337Thr)
6g.10404508C>TCA362701142TFAP2A,TFAP2A-AS2c.746G>A (p.Arg249Lys)
c.770G>A (p.Arg257Lys)
c.*261G>A (n.*261G>A)
c.335G>A (p.Arg112Lys)
c.752G>A (p.Arg251Lys)
c.87G>A
c.764G>A (p.Arg255Lys)
c.478G>A
n.764G>A
n.735G>A
c.899G>A (p.Arg300Lys)
c.614G>A (p.Arg205Lys)
n.7C>T
c.1010G>A (p.Arg337Lys)
6g.10404509T>ACA362701143TFAP2A,TFAP2A-AS2c.745A>T (p.Arg249Trp)
c.769A>T (p.Arg257Trp)
c.*260A>T (n.*260A>T)
c.334A>T (p.Arg112Trp)
c.751A>T (p.Arg251Trp)
c.86A>T
c.763A>T (p.Arg255Trp)
c.477A>T
n.763A>T
n.734A>T
c.898A>T (p.Arg300Trp)
c.613A>T (p.Arg205Trp)
n.8T>A
c.1009A>T (p.Arg337Trp)
 ClinVar dbSNP
6g.10404509T>CCA004729TFAP2A,TFAP2A-AS2c.745A>G (p.Arg249Gly)
c.769A>G (p.Arg257Gly)
c.*260A>G (n.*260A>G)
c.334A>G (p.Arg112Gly)
c.751A>G (p.Arg251Gly)
c.86A>G
c.763A>G (p.Arg255Gly)
c.477A>G
n.763A>G
n.734A>G
c.898A>G (p.Arg300Gly)
c.613A>G (p.Arg205Gly)
n.8T>C
c.1009A>G (p.Arg337Gly)
 ClinVar dbSNP gnomAD v4
6g.10404509T>GCA3631260TFAP2A,TFAP2A-AS2c.745A>C (p.Arg249=)
c.769A>C (p.Arg257=)
c.*260A>C (n.*260A>C)
c.334A>C (p.Arg112=)
c.751A>C (p.Arg251=)
c.86A>C
c.763A>C (p.Arg255=)
c.477A>C
n.763A>C
n.734A>C
c.898A>C (p.Arg300=)
c.613A>C (p.Arg205=)
n.8T>G
c.1009A>C (p.Arg337=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404509T=CA1609976719TFAP2A,TFAP2A-AS2c.745A= (p.Arg249=)
c.769A= (p.Arg257=)
c.*260A= (n.*260A=)
c.334A= (p.Arg112=)
c.751A= (p.Arg251=)
c.86A=
c.763A= (p.Arg255=)
c.477A=
n.763A=
n.734A=
c.898A= (p.Arg300=)
c.613A= (p.Arg205=)
n.8T=
c.1009A= (p.Arg337=)
6g.10404510C>ACA448717436TFAP2A,TFAP2A-AS2c.744G>T (p.Arg248=)
c.768G>T (p.Arg256=)
c.*259G>T (n.*259G>T)
c.333G>T (p.Arg111=)
c.750G>T (p.Arg250=)
c.85G>T
c.762G>T (p.Arg254=)
c.476G>T
n.762G>T
n.733G>T
c.897G>T (p.Arg299=)
c.612G>T (p.Arg204=)
n.9C>A
c.1008G>T (p.Arg336=)
6g.10404510C=CA1609976720TFAP2A,TFAP2A-AS2c.744G= (p.Arg248=)
c.768G= (p.Arg256=)
c.*259G= (n.*259G=)
c.333G= (p.Arg111=)
c.750G= (p.Arg250=)
c.85G=
c.762G= (p.Arg254=)
c.476G=
n.762G=
n.733G=
c.897G= (p.Arg299=)
c.612G= (p.Arg204=)
n.9C=
c.1008G= (p.Arg336=)
6g.10404510C>GCA448717437TFAP2A,TFAP2A-AS2c.744G>C (p.Arg248=)
c.768G>C (p.Arg256=)
c.*259G>C (n.*259G>C)
c.333G>C (p.Arg111=)
c.750G>C (p.Arg250=)
c.85G>C
c.762G>C (p.Arg254=)
c.476G>C
n.762G>C
n.733G>C
c.897G>C (p.Arg299=)
c.612G>C (p.Arg204=)
n.9C>G
c.1008G>C (p.Arg336=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404510C>TCA134048993TFAP2A,TFAP2A-AS2c.744G>A (p.Arg248=)
c.768G>A (p.Arg256=)
c.*259G>A (n.*259G>A)
c.333G>A (p.Arg111=)
c.750G>A (p.Arg250=)
c.85G>A
c.762G>A (p.Arg254=)
c.476G>A
n.762G>A
n.733G>A
c.897G>A (p.Arg299=)
c.612G>A (p.Arg204=)
n.9C>T
c.1008G>A (p.Arg336=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404511C>ACA362701144TFAP2A,TFAP2A-AS2c.743G>T (p.Arg248Leu)
c.767G>T (p.Arg256Leu)
c.*258G>T (n.*258G>T)
c.332G>T (p.Arg111Leu)
c.749G>T (p.Arg250Leu)
c.84G>T
c.761G>T (p.Arg254Leu)
c.475G>T
n.761G>T
n.732G>T
c.896G>T (p.Arg299Leu)
c.611G>T (p.Arg204Leu)
n.10C>A
c.1007G>T (p.Arg336Leu)
6g.10404511C=CA1609976721TFAP2A,TFAP2A-AS2c.743G= (p.Arg248=)
c.767G= (p.Arg256=)
c.*258G= (n.*258G=)
c.332G= (p.Arg111=)
c.749G= (p.Arg250=)
c.84G=
c.761G= (p.Arg254=)
c.475G=
n.761G=
n.732G=
c.896G= (p.Arg299=)
c.611G= (p.Arg204=)
n.10C=
c.1007G= (p.Arg336=)
6g.10404511C>GCA134048995TFAP2A,TFAP2A-AS2c.743G>C (p.Arg248Pro)
c.767G>C (p.Arg256Pro)
c.*258G>C (n.*258G>C)
c.332G>C (p.Arg111Pro)
c.749G>C (p.Arg250Pro)
c.84G>C
c.761G>C (p.Arg254Pro)
c.475G>C
n.761G>C
n.732G>C
c.896G>C (p.Arg299Pro)
c.611G>C (p.Arg204Pro)
n.10C>G
c.1007G>C (p.Arg336Pro)
 dbSNP
6g.10404511C>TCA362701145TFAP2A,TFAP2A-AS2c.743G>A (p.Arg248Gln)
c.767G>A (p.Arg256Gln)
c.*258G>A (n.*258G>A)
c.332G>A (p.Arg111Gln)
c.749G>A (p.Arg250Gln)
c.84G>A
c.761G>A (p.Arg254Gln)
c.475G>A
n.761G>A
n.732G>A
c.896G>A (p.Arg299Gln)
c.611G>A (p.Arg204Gln)
n.10C>T
c.1007G>A (p.Arg336Gln)
 ClinVar dbSNP
6g.10404512G>ACA134048998TFAP2A,TFAP2A-AS2c.742C>T (p.Arg248Trp)
c.766C>T (p.Arg256Trp)
c.*257C>T (n.*257C>T)
c.331C>T (p.Arg111Trp)
c.748C>T (p.Arg250Trp)
c.83C>T
c.760C>T (p.Arg254Trp)
c.474C>T
n.760C>T
n.731C>T
c.895C>T (p.Arg299Trp)
c.610C>T (p.Arg204Trp)
n.11G>A
c.1006C>T (p.Arg336Trp)
 ClinVar dbSNP
6g.10404512G>CCA134048999TFAP2A,TFAP2A-AS2c.742C>G (p.Arg248Gly)
c.766C>G (p.Arg256Gly)
c.*257C>G (n.*257C>G)
c.331C>G (p.Arg111Gly)
c.748C>G (p.Arg250Gly)
c.83C>G
c.760C>G (p.Arg254Gly)
c.474C>G
n.760C>G
n.731C>G
c.895C>G (p.Arg299Gly)
c.610C>G (p.Arg204Gly)
n.11G>C
c.1006C>G (p.Arg336Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.10404512G=CA1609976722TFAP2A,TFAP2A-AS2c.742C= (p.Arg248=)
c.766C= (p.Arg256=)
c.*257C= (n.*257C=)
c.331C= (p.Arg111=)
c.748C= (p.Arg250=)
c.83C=
c.760C= (p.Arg254=)
c.474C=
n.760C=
n.731C=
c.895C= (p.Arg299=)
c.610C= (p.Arg204=)
n.11G=
c.1006C= (p.Arg336=)
6g.10404512G>TCA448717438TFAP2A,TFAP2A-AS2c.742C>A (p.Arg248=)
c.766C>A (p.Arg256=)
c.*257C>A (n.*257C>A)
c.331C>A (p.Arg111=)
c.748C>A (p.Arg250=)
c.83C>A
c.760C>A (p.Arg254=)
c.474C>A
n.760C>A
n.731C>A
c.895C>A (p.Arg299=)
c.610C>A (p.Arg204=)
n.11G>T
c.1006C>A (p.Arg336=)
6g.10404513G>ACA3631261TFAP2A,TFAP2A-AS2c.741C>T (p.Leu247=)
c.765C>T (p.Leu255=)
c.*256C>T (n.*256C>T)
c.330C>T (p.Leu110=)
c.747C>T (p.Leu249=)
c.82C>T
c.759C>T (p.Leu253=)
c.473C>T
n.759C>T
n.730C>T
c.894C>T (p.Leu298=)
c.609C>T (p.Leu203=)
n.12G>A
c.1005C>T (p.Leu335=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404513G>CCA3631262TFAP2A,TFAP2A-AS2c.741C>G (p.Leu247=)
c.765C>G (p.Leu255=)
c.*256C>G (n.*256C>G)
c.330C>G (p.Leu110=)
c.747C>G (p.Leu249=)
c.82C>G
c.759C>G (p.Leu253=)
c.473C>G
n.759C>G
n.730C>G
c.894C>G (p.Leu298=)
c.609C>G (p.Leu203=)
n.12G>C
c.1005C>G (p.Leu335=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.10404513G=CA1609976723TFAP2A,TFAP2A-AS2c.741C= (p.Leu247=)
c.765C= (p.Leu255=)
c.*256C= (n.*256C=)
c.330C= (p.Leu110=)
c.747C= (p.Leu249=)
c.82C=
c.759C= (p.Leu253=)
c.473C=
n.759C=
n.730C=
c.894C= (p.Leu298=)
c.609C= (p.Leu203=)
n.12G=
c.1005C= (p.Leu335=)
6g.10404513G>TCA448717441TFAP2A,TFAP2A-AS2c.741C>A (p.Leu247=)
c.765C>A (p.Leu255=)
c.*256C>A (n.*256C>A)
c.330C>A (p.Leu110=)
c.747C>A (p.Leu249=)
c.82C>A
c.759C>A (p.Leu253=)
c.473C>A
n.759C>A
n.730C>A
c.894C>A (p.Leu298=)
c.609C>A (p.Leu203=)
n.12G>T
c.1005C>A (p.Leu335=)
6g.10404514A>CCA362701146TFAP2A,TFAP2A-AS2c.740T>G (p.Leu247Arg)
c.764T>G (p.Leu255Arg)
c.*255T>G (n.*255T>G)
c.329T>G (p.Leu110Arg)
c.746T>G (p.Leu249Arg)
c.81T>G
c.758T>G (p.Leu253Arg)
c.472T>G
n.758T>G
n.729T>G
c.893T>G (p.Leu298Arg)
c.608T>G (p.Leu203Arg)
n.13A>C
c.1004T>G (p.Leu335Arg)
6g.10404514A>GCA362701147TFAP2A,TFAP2A-AS2c.740T>C (p.Leu247Pro)
c.764T>C (p.Leu255Pro)
c.*255T>C (n.*255T>C)
c.329T>C (p.Leu110Pro)
c.746T>C (p.Leu249Pro)
c.81T>C
c.758T>C (p.Leu253Pro)
c.472T>C
n.758T>C
n.729T>C
c.893T>C (p.Leu298Pro)
c.608T>C (p.Leu203Pro)
n.13A>G
c.1004T>C (p.Leu335Pro)
6g.10404514A>TCA362701148TFAP2A,TFAP2A-AS2c.740T>A (p.Leu247His)
c.764T>A (p.Leu255His)
c.*255T>A (n.*255T>A)
c.329T>A (p.Leu110His)
c.746T>A (p.Leu249His)
c.81T>A
c.758T>A (p.Leu253His)
c.472T>A
n.758T>A
n.729T>A
c.893T>A (p.Leu298His)
c.608T>A (p.Leu203His)
n.13A>T
c.1004T>A (p.Leu335His)
6g.10404515G>ACA362701149TFAP2A,TFAP2A-AS2c.739C>T (p.Leu247Phe)
c.763C>T (p.Leu255Phe)
c.*254C>T (n.*254C>T)
c.328C>T (p.Leu110Phe)
c.745C>T (p.Leu249Phe)
c.80C>T
c.757C>T (p.Leu253Phe)
c.471C>T
n.757C>T
n.728C>T
c.892C>T (p.Leu298Phe)
c.607C>T (p.Leu203Phe)
n.14G>A
c.1003C>T (p.Leu335Phe)
 gnomAD v4
6g.10404515G>CCA362701150TFAP2A,TFAP2A-AS2c.739C>G (p.Leu247Val)
c.763C>G (p.Leu255Val)
c.*254C>G (n.*254C>G)
c.328C>G (p.Leu110Val)
c.745C>G (p.Leu249Val)
c.80C>G
c.757C>G (p.Leu253Val)
c.471C>G
n.757C>G
n.728C>G
c.892C>G (p.Leu298Val)
c.607C>G (p.Leu203Val)
n.14G>C
c.1003C>G (p.Leu335Val)
 gnomAD v4
6g.10404515G>TCA362701151TFAP2A,TFAP2A-AS2c.739C>A (p.Leu247Ile)
c.763C>A (p.Leu255Ile)
c.*254C>A (n.*254C>A)
c.328C>A (p.Leu110Ile)
c.745C>A (p.Leu249Ile)
c.80C>A
c.757C>A (p.Leu253Ile)
c.471C>A
n.757C>A
n.728C>A
c.892C>A (p.Leu298Ile)
c.607C>A (p.Leu203Ile)
n.14G>T
c.1003C>A (p.Leu335Ile)
 gnomAD v4
6g.10404516C>ACA448717443TFAP2A,TFAP2A-AS2c.738G>T (p.Val246=)
c.762G>T (p.Val254=)
c.*253G>T (n.*253G>T)
c.327G>T (p.Val109=)
c.744G>T (p.Val248=)
c.79G>T
c.756G>T (p.Val252=)
c.470G>T
n.756G>T
n.727G>T
c.891G>T (p.Val297=)
c.606G>T (p.Val202=)
n.15C>A
c.1002G>T (p.Val334=)
 gnomAD v4
6g.10404516C>GCA448717445TFAP2A,TFAP2A-AS2c.738G>C (p.Val246=)
c.762G>C (p.Val254=)
c.*253G>C (n.*253G>C)
c.327G>C (p.Val109=)
c.744G>C (p.Val248=)
c.79G>C
c.756G>C (p.Val252=)
c.470G>C
n.756G>C
n.727G>C
c.891G>C (p.Val297=)
c.606G>C (p.Val202=)
n.15C>G
c.1002G>C (p.Val334=)
6g.10404516C>TCA448717446TFAP2A,TFAP2A-AS2c.738G>A (p.Val246=)
c.762G>A (p.Val254=)
c.*253G>A (n.*253G>A)
c.327G>A (p.Val109=)
c.744G>A (p.Val248=)
c.79G>A
c.756G>A (p.Val252=)
c.470G>A
n.756G>A
n.727G>A
c.891G>A (p.Val297=)
c.606G>A (p.Val202=)
n.15C>T
c.1002G>A (p.Val334=)
 gnomAD v4 COSMIC COSMIC COSMIC
6g.10404517A>CCA362701153TFAP2A,TFAP2A-AS2c.737T>G (p.Val246Gly)
c.761T>G (p.Val254Gly)
c.*252T>G (n.*252T>G)
c.326T>G (p.Val109Gly)
c.743T>G (p.Val248Gly)
c.78T>G
c.755T>G (p.Val252Gly)
c.469T>G
n.755T>G
n.726T>G
c.890T>G (p.Val297Gly)
c.605T>G (p.Val202Gly)
n.16A>C
c.1001T>G (p.Val334Gly)
6g.10404517A>GCA362701154TFAP2A,TFAP2A-AS2c.737T>C (p.Val246Ala)
c.761T>C (p.Val254Ala)
c.*252T>C (n.*252T>C)
c.326T>C (p.Val109Ala)
c.743T>C (p.Val248Ala)
c.78T>C
c.755T>C (p.Val252Ala)
c.469T>C
n.755T>C
n.726T>C
c.890T>C (p.Val297Ala)
c.605T>C (p.Val202Ala)
n.16A>G
c.1001T>C (p.Val334Ala)
6g.10404517A>TCA362701152TFAP2A,TFAP2A-AS2c.737T>A (p.Val246Glu)
c.761T>A (p.Val254Glu)
c.*252T>A (n.*252T>A)
c.326T>A (p.Val109Glu)
c.743T>A (p.Val248Glu)
c.78T>A
c.755T>A (p.Val252Glu)
c.469T>A
n.755T>A
n.726T>A
c.890T>A (p.Val297Glu)
c.605T>A (p.Val202Glu)
n.16A>T
c.1001T>A (p.Val334Glu)
6g.10404518C>ACA362701155TFAP2A,TFAP2A-AS2c.736G>T (p.Val246Leu)
c.760G>T (p.Val254Leu)
c.*251G>T (n.*251G>T)
c.325G>T (p.Val109Leu)
c.742G>T (p.Val248Leu)
c.77G>T
c.754G>T (p.Val252Leu)
c.468G>T
n.754G>T
n.725G>T
c.889G>T (p.Val297Leu)
c.604G>T (p.Val202Leu)
n.17C>A
c.1000G>T (p.Val334Leu)
6g.10404518C>GCA362701156TFAP2A,TFAP2A-AS2c.736G>C (p.Val246Leu)
c.760G>C (p.Val254Leu)
c.*251G>C (n.*251G>C)
c.325G>C (p.Val109Leu)
c.742G>C (p.Val248Leu)
c.77G>C
c.754G>C (p.Val252Leu)
c.468G>C
n.754G>C
n.725G>C
c.889G>C (p.Val297Leu)
c.604G>C (p.Val202Leu)
n.17C>G
c.1000G>C (p.Val334Leu)
6g.10404518C>TCA362701157TFAP2A,TFAP2A-AS2c.736G>A (p.Val246Met)
c.760G>A (p.Val254Met)
c.*251G>A (n.*251G>A)
c.325G>A (p.Val109Met)
c.742G>A (p.Val248Met)
c.77G>A
c.754G>A (p.Val252Met)
c.468G>A
n.754G>A
n.725G>A
c.889G>A (p.Val297Met)
c.604G>A (p.Val202Met)
n.17C>T
c.1000G>A (p.Val334Met)
6g.10404519T>ACA448717449TFAP2A,TFAP2A-AS2c.735A>T (p.Gly245=)
c.759A>T (p.Gly253=)
c.*250A>T (n.*250A>T)
c.324A>T (p.Gly108=)
c.741A>T (p.Gly247=)
c.76A>T
c.753A>T (p.Gly251=)
c.467A>T
n.753A>T
n.724A>T
c.888A>T (p.Gly296=)
c.603A>T (p.Gly201=)
n.18T>A
c.999A>T (p.Gly333=)
6g.10404519T>CCA448717447TFAP2A,TFAP2A-AS2c.735A>G (p.Gly245=)
c.759A>G (p.Gly253=)
c.*250A>G (n.*250A>G)
c.324A>G (p.Gly108=)
c.741A>G (p.Gly247=)
c.76A>G
c.753A>G (p.Gly251=)
c.467A>G
n.753A>G
n.724A>G
c.888A>G (p.Gly296=)
c.603A>G (p.Gly201=)
n.18T>C
c.999A>G (p.Gly333=)
 dbSNP
6g.10404519T>GCA448717448TFAP2A,TFAP2A-AS2c.735A>C (p.Gly245=)
c.759A>C (p.Gly253=)
c.*250A>C (n.*250A>C)
c.324A>C (p.Gly108=)
c.741A>C (p.Gly247=)
c.76A>C
c.753A>C (p.Gly251=)
c.467A>C
n.753A>C
n.724A>C
c.888A>C (p.Gly296=)
c.603A>C (p.Gly201=)
n.18T>G
c.999A>C (p.Gly333=)
6g.10404520C>ACA362701158TFAP2A,TFAP2A-AS2c.734G>T (p.Gly245Val)
c.758G>T (p.Gly253Val)
c.*249G>T (n.*249G>T)
c.323G>T (p.Gly108Val)
c.740G>T (p.Gly247Val)
c.75G>T
c.752G>T (p.Gly251Val)
c.466G>T
n.752G>T
n.723G>T
c.887G>T (p.Gly296Val)
c.602G>T (p.Gly201Val)
n.19C>A
c.998G>T (p.Gly333Val)
 gnomAD v4
6g.10404520C=CA1609976724TFAP2A,TFAP2A-AS2c.734G= (p.Gly245=)
c.758G= (p.Gly253=)
c.*249G= (n.*249G=)
c.323G= (p.Gly108=)
c.740G= (p.Gly247=)
c.75G=
c.752G= (p.Gly251=)
c.466G=
n.752G=
n.723G=
c.887G= (p.Gly296=)
c.602G= (p.Gly201=)
n.19C=
c.998G= (p.Gly333=)
6g.10404520C>GCA362701159TFAP2A,TFAP2A-AS2c.734G>C (p.Gly245Ala)
c.758G>C (p.Gly253Ala)
c.*249G>C (n.*249G>C)
c.323G>C (p.Gly108Ala)
c.740G>C (p.Gly247Ala)
c.75G>C
c.752G>C (p.Gly251Ala)
c.466G>C
n.752G>C
n.723G>C
c.887G>C (p.Gly296Ala)
c.602G>C (p.Gly201Ala)
n.19C>G
c.998G>C (p.Gly333Ala)
6g.10404520C>TCA134049023TFAP2A,TFAP2A-AS2c.734G>A (p.Gly245Glu)
c.758G>A (p.Gly253Glu)
c.*249G>A (n.*249G>A)
c.323G>A (p.Gly108Glu)
c.740G>A (p.Gly247Glu)
c.75G>A
c.752G>A (p.Gly251Glu)
c.466G>A
n.752G>A
n.723G>A
c.887G>A (p.Gly296Glu)
c.602G>A (p.Gly201Glu)
n.19C>T
c.998G>A (p.Gly333Glu)
 ClinVar dbSNP
6g.10404521C>ACA362701160TFAP2A,TFAP2A-AS2c.733G>T (p.Gly245Ter)
c.757G>T (p.Gly253Ter)
c.*248G>T (n.*248G>T)
c.322G>T (p.Gly108Ter)
c.739G>T (p.Gly247Ter)
c.74G>T
c.751G>T (p.Gly251Ter)
c.465G>T
n.751G>T
n.722G>T
c.886G>T (p.Gly296Ter)
c.601G>T (p.Gly201Ter)
n.20C>A
c.997G>T (p.Gly333Ter)
 gnomAD v4
6g.10404521C>GCA362701161TFAP2A,TFAP2A-AS2c.733G>C (p.Gly245Arg)
c.757G>C (p.Gly253Arg)
c.*248G>C (n.*248G>C)
c.322G>C (p.Gly108Arg)
c.739G>C (p.Gly247Arg)
c.74G>C
c.751G>C (p.Gly251Arg)
c.465G>C
n.751G>C
n.722G>C
c.886G>C (p.Gly296Arg)
c.601G>C (p.Gly201Arg)
n.20C>G
c.997G>C (p.Gly333Arg)
6g.10404521C>TCA362701162TFAP2A,TFAP2A-AS2c.733G>A (p.Gly245Arg)
c.757G>A (p.Gly253Arg)
c.*248G>A (n.*248G>A)
c.322G>A (p.Gly108Arg)
c.739G>A (p.Gly247Arg)
c.74G>A
c.751G>A (p.Gly251Arg)
c.465G>A
n.751G>A
n.722G>A
c.886G>A (p.Gly296Arg)
c.601G>A (p.Gly201Arg)
n.20C>T
c.997G>A (p.Gly333Arg)
 gnomAD v4
6g.10404522G>ACA448717451TFAP2A,TFAP2A-AS2c.732C>T (p.Gly244=)
c.756C>T (p.Gly252=)
c.*247C>T (n.*247C>T)
c.321C>T (p.Gly107=)
c.738C>T (p.Gly246=)
c.73C>T
c.750C>T (p.Gly250=)
c.464C>T
n.750C>T
n.721C>T
c.885C>T (p.Gly295=)
c.600C>T (p.Gly200=)
n.21G>A
c.996C>T (p.Gly332=)
6g.10404522G>CCA448717452TFAP2A,TFAP2A-AS2c.732C>G (p.Gly244=)
c.756C>G (p.Gly252=)
c.*247C>G (n.*247C>G)
c.321C>G (p.Gly107=)
c.738C>G (p.Gly246=)
c.73C>G
c.750C>G (p.Gly250=)
c.464C>G
n.750C>G
n.721C>G
c.885C>G (p.Gly295=)
c.600C>G (p.Gly200=)
n.21G>C
c.996C>G (p.Gly332=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404522G=CA1609976725TFAP2A,TFAP2A-AS2c.732C= (p.Gly244=)
c.756C= (p.Gly252=)
c.*247C= (n.*247C=)
c.321C= (p.Gly107=)
c.738C= (p.Gly246=)
c.73C=
c.750C= (p.Gly250=)
c.464C=
n.750C=
n.721C=
c.885C= (p.Gly295=)
c.600C= (p.Gly200=)
n.21G=
c.996C= (p.Gly332=)
6g.10404522G>TCA448717453TFAP2A,TFAP2A-AS2c.732C>A (p.Gly244=)
c.756C>A (p.Gly252=)
c.*247C>A (n.*247C>A)
c.321C>A (p.Gly107=)
c.738C>A (p.Gly246=)
c.73C>A
c.750C>A (p.Gly250=)
c.464C>A
n.750C>A
n.721C>A
c.885C>A (p.Gly295=)
c.600C>A (p.Gly200=)
n.21G>T
c.996C>A (p.Gly332=)
 gnomAD v4
6g.10404523C>ACA362701163TFAP2A,TFAP2A-AS2c.731G>T (p.Gly244Val)
c.755G>T (p.Gly252Val)
c.*246G>T (n.*246G>T)
c.320G>T (p.Gly107Val)
c.737G>T (p.Gly246Val)
c.72G>T
c.749G>T (p.Gly250Val)
c.463G>T
n.749G>T
n.720G>T
c.884G>T (p.Gly295Val)
c.599G>T (p.Gly200Val)
n.22C>A
c.995G>T (p.Gly332Val)
6g.10404523C=CA1609976726TFAP2A,TFAP2A-AS2c.731G= (p.Gly244=)
c.755G= (p.Gly252=)
c.*246G= (n.*246G=)
c.320G= (p.Gly107=)
c.737G= (p.Gly246=)
c.72G=
c.749G= (p.Gly250=)
c.463G=
n.749G=
n.720G=
c.884G= (p.Gly295=)
c.599G= (p.Gly200=)
n.22C=
c.995G= (p.Gly332=)
6g.10404523C>GCA362701164TFAP2A,TFAP2A-AS2c.731G>C (p.Gly244Ala)
c.755G>C (p.Gly252Ala)
c.*246G>C (n.*246G>C)
c.320G>C (p.Gly107Ala)
c.737G>C (p.Gly246Ala)
c.72G>C
c.749G>C (p.Gly250Ala)
c.463G>C
n.749G>C
n.720G>C
c.884G>C (p.Gly295Ala)
c.599G>C (p.Gly200Ala)
n.22C>G
c.995G>C (p.Gly332Ala)
6g.10404523C>TCA362701165TFAP2A,TFAP2A-AS2c.731G>A (p.Gly244Asp)
c.755G>A (p.Gly252Asp)
c.*246G>A (n.*246G>A)
c.320G>A (p.Gly107Asp)
c.737G>A (p.Gly246Asp)
c.72G>A
c.749G>A (p.Gly250Asp)
c.463G>A
n.749G>A
n.720G>A
c.884G>A (p.Gly295Asp)
c.599G>A (p.Gly200Asp)
n.22C>T
c.995G>A (p.Gly332Asp)
 ClinVar dbSNP
6g.10404524C>ACA362701166TFAP2A,TFAP2A-AS2c.730G>T (p.Gly244Cys)
c.754G>T (p.Gly252Cys)
c.*245G>T (n.*245G>T)
c.319G>T (p.Gly107Cys)
c.736G>T (p.Gly246Cys)
c.71G>T
c.748G>T (p.Gly250Cys)
c.462G>T
n.748G>T
n.719G>T
c.883G>T (p.Gly295Cys)
c.598G>T (p.Gly200Cys)
n.23C>A
c.994G>T (p.Gly332Cys)
 ClinVar gnomAD v4
6g.10404524C=CA1609976727TFAP2A,TFAP2A-AS2c.730G= (p.Gly244=)
c.754G= (p.Gly252=)
c.*245G= (n.*245G=)
c.319G= (p.Gly107=)
c.736G= (p.Gly246=)
c.71G=
c.748G= (p.Gly250=)
c.462G=
n.748G=
n.719G=
c.883G= (p.Gly295=)
c.598G= (p.Gly200=)
n.23C=
c.994G= (p.Gly332=)
6g.10404524C>GCA362701167TFAP2A,TFAP2A-AS2c.730G>C (p.Gly244Arg)
c.754G>C (p.Gly252Arg)
c.*245G>C (n.*245G>C)
c.319G>C (p.Gly107Arg)
c.736G>C (p.Gly246Arg)
c.71G>C
c.748G>C (p.Gly250Arg)
c.462G>C
n.748G>C
n.719G>C
c.883G>C (p.Gly295Arg)
c.598G>C (p.Gly200Arg)
n.23C>G
c.994G>C (p.Gly332Arg)
6g.10404524C>TCA134049026TFAP2A,TFAP2A-AS2c.730G>A (p.Gly244Ser)
c.754G>A (p.Gly252Ser)
c.*245G>A (n.*245G>A)
c.319G>A (p.Gly107Ser)
c.736G>A (p.Gly246Ser)
c.71G>A
c.748G>A (p.Gly250Ser)
c.462G>A
n.748G>A
n.719G>A
c.883G>A (p.Gly295Ser)
c.598G>A (p.Gly200Ser)
n.23C>T
c.994G>A (p.Gly332Ser)
 dbSNP
6g.10404525C>ACA448717457TFAP2A,TFAP2A-AS2c.729G>T (p.Leu243=)
c.753G>T (p.Leu251=)
c.*244G>T (n.*244G>T)
c.318G>T (p.Leu106=)
c.735G>T (p.Leu245=)
c.70G>T
c.747G>T (p.Leu249=)
c.461G>T
n.747G>T
n.718G>T
c.882G>T (p.Leu294=)
c.597G>T (p.Leu199=)
n.24C>A
c.993G>T (p.Leu331=)
6g.10404525C>GCA448717455TFAP2A,TFAP2A-AS2c.729G>C (p.Leu243=)
c.753G>C (p.Leu251=)
c.*244G>C (n.*244G>C)
c.318G>C (p.Leu106=)
c.735G>C (p.Leu245=)
c.70G>C
c.747G>C (p.Leu249=)
c.461G>C
n.747G>C
n.718G>C
c.882G>C (p.Leu294=)
c.597G>C (p.Leu199=)
n.24C>G
c.993G>C (p.Leu331=)
6g.10404525C>TCA448717456TFAP2A,TFAP2A-AS2c.729G>A (p.Leu243=)
c.753G>A (p.Leu251=)
c.*244G>A (n.*244G>A)
c.318G>A (p.Leu106=)
c.735G>A (p.Leu245=)
c.70G>A
c.747G>A (p.Leu249=)
c.461G>A
n.747G>A
n.718G>A
c.882G>A (p.Leu294=)
c.597G>A (p.Leu199=)
n.24C>T
c.993G>A (p.Leu331=)
6g.10404526A=CA1609976728TFAP2A,TFAP2A-AS2c.728T= (p.Leu243=)
c.752T= (p.Leu251=)
c.*243T= (n.*243T=)
c.317T= (p.Leu106=)
c.734T= (p.Leu245=)
c.69T=
c.746T= (p.Leu249=)
c.460T=
n.746T=
n.717T=
c.881T= (p.Leu294=)
c.596T= (p.Leu199=)
n.25A=
c.992T= (p.Leu331=)
6g.10404526A>CCA362701168TFAP2A,TFAP2A-AS2c.728T>G (p.Leu243Arg)
c.752T>G (p.Leu251Arg)
c.*243T>G (n.*243T>G)
c.317T>G (p.Leu106Arg)
c.734T>G (p.Leu245Arg)
c.69T>G
c.746T>G (p.Leu249Arg)
c.460T>G
n.746T>G
n.717T>G
c.881T>G (p.Leu294Arg)
c.596T>G (p.Leu199Arg)
n.25A>C
c.992T>G (p.Leu331Arg)
 ClinVar
6g.10404526A>GCA362701169TFAP2A,TFAP2A-AS2c.728T>C (p.Leu243Pro)
c.752T>C (p.Leu251Pro)
c.*243T>C (n.*243T>C)
c.317T>C (p.Leu106Pro)
c.734T>C (p.Leu245Pro)
c.69T>C
c.746T>C (p.Leu249Pro)
c.460T>C
n.746T>C
n.717T>C
c.881T>C (p.Leu294Pro)
c.596T>C (p.Leu199Pro)
n.25A>G
c.992T>C (p.Leu331Pro)
 ClinVar dbSNP
6g.10404526A>TCA362701170TFAP2A,TFAP2A-AS2c.728T>A (p.Leu243Gln)
c.752T>A (p.Leu251Gln)
c.*243T>A (n.*243T>A)
c.317T>A (p.Leu106Gln)
c.734T>A (p.Leu245Gln)
c.69T>A
c.746T>A (p.Leu249Gln)
c.460T>A
n.746T>A
n.717T>A
c.881T>A (p.Leu294Gln)
c.596T>A (p.Leu199Gln)
n.25A>T
c.992T>A (p.Leu331Gln)
6g.10404527G>ACA448717458TFAP2A,TFAP2A-AS2c.727C>T (p.Leu243=)
c.751C>T (p.Leu251=)
c.*242C>T (n.*242C>T)
c.316C>T (p.Leu106=)
c.733C>T (p.Leu245=)
c.68C>T
c.745C>T (p.Leu249=)
c.459C>T
n.745C>T
n.716C>T
c.880C>T (p.Leu294=)
c.595C>T (p.Leu199=)
n.26G>A
c.991C>T (p.Leu331=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404527G>CCA362701171TFAP2A,TFAP2A-AS2c.727C>G (p.Leu243Val)
c.751C>G (p.Leu251Val)
c.*242C>G (n.*242C>G)
c.316C>G (p.Leu106Val)
c.733C>G (p.Leu245Val)
c.68C>G
c.745C>G (p.Leu249Val)
c.459C>G
n.745C>G
n.716C>G
c.880C>G (p.Leu294Val)
c.595C>G (p.Leu199Val)
n.26G>C
c.991C>G (p.Leu331Val)
6g.10404527G>TCA362701172TFAP2A,TFAP2A-AS2c.727C>A (p.Leu243Met)
c.751C>A (p.Leu251Met)
c.*242C>A (n.*242C>A)
c.316C>A (p.Leu106Met)
c.733C>A (p.Leu245Met)
c.68C>A
c.745C>A (p.Leu249Met)
c.459C>A
n.745C>A
n.716C>A
c.880C>A (p.Leu294Met)
c.595C>A (p.Leu199Met)
n.26G>T
c.991C>A (p.Leu331Met)
6g.10404528C>ACA134049030TFAP2A,TFAP2A-AS2c.726G>T (p.Leu242=)
c.750G>T (p.Leu250=)
c.*241G>T (n.*241G>T)
c.315G>T (p.Leu105=)
c.732G>T (p.Leu244=)
c.67G>T
c.744G>T (p.Leu248=)
c.458G>T
n.744G>T
n.715G>T
c.879G>T (p.Leu293=)
c.594G>T (p.Leu198=)
n.27C>A
c.990G>T (p.Leu330=)
 dbSNP gnomAD v4
6g.10404528C=CA1609976729TFAP2A,TFAP2A-AS2c.726G= (p.Leu242=)
c.750G= (p.Leu250=)
c.*241G= (n.*241G=)
c.315G= (p.Leu105=)
c.732G= (p.Leu244=)
c.67G=
c.744G= (p.Leu248=)
c.458G=
n.744G=
n.715G=
c.879G= (p.Leu293=)
c.594G= (p.Leu198=)
n.27C=
c.990G= (p.Leu330=)
6g.10404528C>GCA448717461TFAP2A,TFAP2A-AS2c.726G>C (p.Leu242=)
c.750G>C (p.Leu250=)
c.*241G>C (n.*241G>C)
c.315G>C (p.Leu105=)
c.732G>C (p.Leu244=)
c.67G>C
c.744G>C (p.Leu248=)
c.458G>C
n.744G>C
n.715G>C
c.879G>C (p.Leu293=)
c.594G>C (p.Leu198=)
n.27C>G
c.990G>C (p.Leu330=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404528C>TCA448717463TFAP2A,TFAP2A-AS2c.726G>A (p.Leu242=)
c.750G>A (p.Leu250=)
c.*241G>A (n.*241G>A)
c.315G>A (p.Leu105=)
c.732G>A (p.Leu244=)
c.67G>A
c.744G>A (p.Leu248=)
c.458G>A
n.744G>A
n.715G>A
c.879G>A (p.Leu293=)
c.594G>A (p.Leu198=)
n.27C>T
c.990G>A (p.Leu330=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404529A>CCA362701175TFAP2A,TFAP2A-AS2c.725T>G (p.Leu242Arg)
c.749T>G (p.Leu250Arg)
c.*240T>G (n.*240T>G)
c.314T>G (p.Leu105Arg)
c.731T>G (p.Leu244Arg)
c.66T>G
c.743T>G (p.Leu248Arg)
c.457T>G
n.743T>G
n.714T>G
c.878T>G (p.Leu293Arg)
c.593T>G (p.Leu198Arg)
n.28A>C
c.989T>G (p.Leu330Arg)
6g.10404529A>GCA362701173TFAP2A,TFAP2A-AS2c.725T>C (p.Leu242Pro)
c.749T>C (p.Leu250Pro)
c.*240T>C (n.*240T>C)
c.314T>C (p.Leu105Pro)
c.731T>C (p.Leu244Pro)
c.66T>C
c.743T>C (p.Leu248Pro)
c.457T>C
n.743T>C
n.714T>C
c.878T>C (p.Leu293Pro)
c.593T>C (p.Leu198Pro)
n.28A>G
c.989T>C (p.Leu330Pro)
 ClinVar
6g.10404529A>TCA362701174TFAP2A,TFAP2A-AS2c.725T>A (p.Leu242Gln)
c.749T>A (p.Leu250Gln)
c.*240T>A (n.*240T>A)
c.314T>A (p.Leu105Gln)
c.731T>A (p.Leu244Gln)
c.66T>A
c.743T>A (p.Leu248Gln)
c.457T>A
n.743T>A
n.714T>A
c.878T>A (p.Leu293Gln)
c.593T>A (p.Leu198Gln)
n.28A>T
c.989T>A (p.Leu330Gln)
6g.10404530G>ACA448717464TFAP2A,TFAP2A-AS2c.724C>T (p.Leu242=)
c.748C>T (p.Leu250=)
c.*239C>T (n.*239C>T)
c.313C>T (p.Leu105=)
c.730C>T (p.Leu244=)
c.65C>T
c.742C>T (p.Leu248=)
c.456C>T
n.742C>T
n.713C>T
c.877C>T (p.Leu293=)
c.592C>T (p.Leu198=)
n.29G>A
c.988C>T (p.Leu330=)
6g.10404530G>CCA362701176TFAP2A,TFAP2A-AS2c.724C>G (p.Leu242Val)
c.748C>G (p.Leu250Val)
c.*239C>G (n.*239C>G)
c.313C>G (p.Leu105Val)
c.730C>G (p.Leu244Val)
c.65C>G
c.742C>G (p.Leu248Val)
c.456C>G
n.742C>G
n.713C>G
c.877C>G (p.Leu293Val)
c.592C>G (p.Leu198Val)
n.29G>C
c.988C>G (p.Leu330Val)
6g.10404530G>TCA362701177TFAP2A,TFAP2A-AS2c.724C>A (p.Leu242Met)
c.748C>A (p.Leu250Met)
c.*239C>A (n.*239C>A)
c.313C>A (p.Leu105Met)
c.730C>A (p.Leu244Met)
c.65C>A
c.742C>A (p.Leu248Met)
c.456C>A
n.742C>A
n.713C>A
c.877C>A (p.Leu293Met)
c.592C>A (p.Leu198Met)
n.29G>T
c.988C>A (p.Leu330Met)
6g.10404531C>ACA448717465TFAP2A,TFAP2A-AS2c.723G>T (p.Ser241=)
c.747G>T (p.Ser249=)
c.*238G>T (n.*238G>T)
c.312G>T (p.Ser104=)
c.729G>T (p.Ser243=)
c.64G>T
c.741G>T (p.Ser247=)
c.455G>T
n.741G>T
n.712G>T
c.876G>T (p.Ser292=)
c.591G>T (p.Ser197=)
n.30C>A
c.987G>T (p.Ser329=)
6g.10404531C=CA1609976730TFAP2A,TFAP2A-AS2c.723G= (p.Ser241=)
c.747G= (p.Ser249=)
c.*238G= (n.*238G=)
c.312G= (p.Ser104=)
c.729G= (p.Ser243=)
c.64G=
c.741G= (p.Ser247=)
c.455G=
n.741G=
n.712G=
c.876G= (p.Ser292=)
c.591G= (p.Ser197=)
n.30C=
c.987G= (p.Ser329=)
6g.10404531C>GCA448717467TFAP2A,TFAP2A-AS2c.723G>C (p.Ser241=)
c.747G>C (p.Ser249=)
c.*238G>C (n.*238G>C)
c.312G>C (p.Ser104=)
c.729G>C (p.Ser243=)
c.64G>C
c.741G>C (p.Ser247=)
c.455G>C
n.741G>C
n.712G>C
c.876G>C (p.Ser292=)
c.591G>C (p.Ser197=)
n.30C>G
c.987G>C (p.Ser329=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404531C>TCA448717468TFAP2A,TFAP2A-AS2c.723G>A (p.Ser241=)
c.747G>A (p.Ser249=)
c.*238G>A (n.*238G>A)
c.312G>A (p.Ser104=)
c.729G>A (p.Ser243=)
c.64G>A
c.741G>A (p.Ser247=)
c.455G>A
n.741G>A
n.712G>A
c.876G>A (p.Ser292=)
c.591G>A (p.Ser197=)
n.30C>T
c.987G>A (p.Ser329=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.10404532G>ACA362701178TFAP2A,TFAP2A-AS2c.722C>T (p.Ser241Leu)
c.746C>T (p.Ser249Leu)
c.*237C>T (n.*237C>T)
c.311C>T (p.Ser104Leu)
c.728C>T (p.Ser243Leu)
c.63C>T
c.740C>T (p.Ser247Leu)
c.454C>T
n.740C>T
n.711C>T
c.875C>T (p.Ser292Leu)
c.590C>T (p.Ser197Leu)
n.31G>A
c.986C>T (p.Ser329Leu)
6g.10404532G>CCA362701179TFAP2A,TFAP2A-AS2c.722C>G (p.Ser241Trp)
c.746C>G (p.Ser249Trp)
c.*237C>G (n.*237C>G)
c.311C>G (p.Ser104Trp)
c.728C>G (p.Ser243Trp)
c.63C>G
c.740C>G (p.Ser247Trp)
c.454C>G
n.740C>G
n.711C>G
c.875C>G (p.Ser292Trp)
c.590C>G (p.Ser197Trp)
n.31G>C
c.986C>G (p.Ser329Trp)
6g.10404532G>TCA362701180TFAP2A,TFAP2A-AS2c.722C>A (p.Ser241Ter)
c.746C>A (p.Ser249Ter)
c.*237C>A (n.*237C>A)
c.311C>A (p.Ser104Ter)
c.728C>A (p.Ser243Ter)
c.63C>A
c.740C>A (p.Ser247Ter)
c.454C>A
n.740C>A
n.711C>A
c.875C>A (p.Ser292Ter)
c.590C>A (p.Ser197Ter)
n.31G>T
c.986C>A (p.Ser329Ter)
6g.10404533A>CCA362701183TFAP2A,TFAP2A-AS2c.721T>G (p.Ser241Ala)
c.745T>G (p.Ser249Ala)
c.*236T>G (n.*236T>G)
c.310T>G (p.Ser104Ala)
c.727T>G (p.Ser243Ala)
c.62T>G
c.739T>G (p.Ser247Ala)
c.453T>G
n.739T>G
n.710T>G
c.874T>G (p.Ser292Ala)
c.589T>G (p.Ser197Ala)
n.32A>C
c.985T>G (p.Ser329Ala)
6g.10404533A>GCA362701182TFAP2A,TFAP2A-AS2c.721T>C (p.Ser241Pro)
c.745T>C (p.Ser249Pro)
c.*236T>C (n.*236T>C)
c.310T>C (p.Ser104Pro)
c.727T>C (p.Ser243Pro)
c.62T>C
c.739T>C (p.Ser247Pro)
c.453T>C
n.739T>C
n.710T>C
c.874T>C (p.Ser292Pro)
c.589T>C (p.Ser197Pro)
n.32A>G
c.985T>C (p.Ser329Pro)
6g.10404533A>TCA362701181TFAP2A,TFAP2A-AS2c.721T>A (p.Ser241Thr)
c.745T>A (p.Ser249Thr)
c.*236T>A (n.*236T>A)
c.310T>A (p.Ser104Thr)
c.727T>A (p.Ser243Thr)
c.62T>A
c.739T>A (p.Ser247Thr)
c.453T>A
n.739T>A
n.710T>A
c.874T>A (p.Ser292Thr)
c.589T>A (p.Ser197Thr)
n.32A>T
c.985T>A (p.Ser329Thr)
6g.10404534C>ACA448717469TFAP2A,TFAP2A-AS2c.720G>T (p.Ala240=)
c.744G>T (p.Ala248=)
c.*235G>T (n.*235G>T)
c.309G>T (p.Ala103=)
c.726G>T (p.Ala242=)
c.61G>T
c.738G>T (p.Ala246=)
c.452G>T
n.738G>T
n.709G>T
c.873G>T (p.Ala291=)
c.588G>T (p.Ala196=)
n.33C>A
c.984G>T (p.Ala328=)
6g.10404534C=CA1609976731TFAP2A,TFAP2A-AS2c.720G= (p.Ala240=)
c.744G= (p.Ala248=)
c.*235G= (n.*235G=)
c.309G= (p.Ala103=)
c.726G= (p.Ala242=)
c.61G=
c.738G= (p.Ala246=)
c.452G=
n.738G=
n.709G=
c.873G= (p.Ala291=)
c.588G= (p.Ala196=)
n.33C=
c.984G= (p.Ala328=)
6g.10404534C>GCA448717470TFAP2A,TFAP2A-AS2c.720G>C (p.Ala240=)
c.744G>C (p.Ala248=)
c.*235G>C (n.*235G>C)
c.309G>C (p.Ala103=)
c.726G>C (p.Ala242=)
c.61G>C
c.738G>C (p.Ala246=)
c.452G>C
n.738G>C
n.709G>C
c.873G>C (p.Ala291=)
c.588G>C (p.Ala196=)
n.33C>G
c.984G>C (p.Ala328=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404534C>TCA448717471TFAP2A,TFAP2A-AS2c.720G>A (p.Ala240=)
c.744G>A (p.Ala248=)
c.*235G>A (n.*235G>A)
c.309G>A (p.Ala103=)
c.726G>A (p.Ala242=)
c.61G>A
c.738G>A (p.Ala246=)
c.452G>A
n.738G>A
n.709G>A
c.873G>A (p.Ala291=)
c.588G>A (p.Ala196=)
n.33C>T
c.984G>A (p.Ala328=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404535G>ACA362701184TFAP2A,TFAP2A-AS2c.719C>T (p.Ala240Val)
c.743C>T (p.Ala248Val)
c.*234C>T (n.*234C>T)
c.308C>T (p.Ala103Val)
c.725C>T (p.Ala242Val)
c.60C>T
c.737C>T (p.Ala246Val)
c.451C>T
n.737C>T
n.708C>T
c.872C>T (p.Ala291Val)
c.587C>T (p.Ala196Val)
n.34G>A
c.983C>T (p.Ala328Val)
6g.10404535G>CCA362701186TFAP2A,TFAP2A-AS2c.719C>G (p.Ala240Gly)
c.743C>G (p.Ala248Gly)
c.*234C>G (n.*234C>G)
c.308C>G (p.Ala103Gly)
c.725C>G (p.Ala242Gly)
c.60C>G
c.737C>G (p.Ala246Gly)
c.451C>G
n.737C>G
n.708C>G
c.872C>G (p.Ala291Gly)
c.587C>G (p.Ala196Gly)
n.34G>C
c.983C>G (p.Ala328Gly)
6g.10404535G>TCA362701185TFAP2A,TFAP2A-AS2c.719C>A (p.Ala240Glu)
c.743C>A (p.Ala248Glu)
c.*234C>A (n.*234C>A)
c.308C>A (p.Ala103Glu)
c.725C>A (p.Ala242Glu)
c.60C>A
c.737C>A (p.Ala246Glu)
c.451C>A
n.737C>A
n.708C>A
c.872C>A (p.Ala291Glu)
c.587C>A (p.Ala196Glu)
n.34G>T
c.983C>A (p.Ala328Glu)
 ClinVar
6g.10404536C>ACA362701187TFAP2A,TFAP2A-AS2c.718G>T (p.Ala240Ser)
c.742G>T (p.Ala248Ser)
c.*233G>T (n.*233G>T)
c.307G>T (p.Ala103Ser)
c.724G>T (p.Ala242Ser)
c.59G>T
c.736G>T (p.Ala246Ser)
c.450G>T
n.736G>T
n.707G>T
c.871G>T (p.Ala291Ser)
c.586G>T (p.Ala196Ser)
n.35C>A
c.982G>T (p.Ala328Ser)
6g.10404536C>GCA362701189TFAP2A,TFAP2A-AS2c.718G>C (p.Ala240Pro)
c.742G>C (p.Ala248Pro)
c.*233G>C (n.*233G>C)
c.307G>C (p.Ala103Pro)
c.724G>C (p.Ala242Pro)
c.59G>C
c.736G>C (p.Ala246Pro)
c.450G>C
n.736G>C
n.707G>C
c.871G>C (p.Ala291Pro)
c.586G>C (p.Ala196Pro)
n.35C>G
c.982G>C (p.Ala328Pro)
6g.10404536C>TCA362701188TFAP2A,TFAP2A-AS2c.718G>A (p.Ala240Thr)
c.742G>A (p.Ala248Thr)
c.*233G>A (n.*233G>A)
c.307G>A (p.Ala103Thr)
c.724G>A (p.Ala242Thr)
c.59G>A
c.736G>A (p.Ala246Thr)
c.450G>A
n.736G>A
n.707G>A
c.871G>A (p.Ala291Thr)
c.586G>A (p.Ala196Thr)
n.35C>T
c.982G>A (p.Ala328Thr)
 ClinVar gnomAD v4
6g.10404537G>ACA448717472TFAP2A,TFAP2A-AS2c.717C>T (p.Asn239=)
c.741C>T (p.Asn247=)
c.*232C>T (n.*232C>T)
c.306C>T (p.Asn102=)
c.723C>T (p.Asn241=)
c.58C>T
c.735C>T (p.Asn245=)
c.449C>T
n.735C>T
n.706C>T
c.870C>T (p.Asn290=)
c.585C>T (p.Asn195=)
n.36G>A
c.981C>T (p.Asn327=)
 dbSNP gnomAD v4
6g.10404537G>CCA362701190TFAP2A,TFAP2A-AS2c.717C>G (p.Asn239Lys)
c.741C>G (p.Asn247Lys)
c.*232C>G (n.*232C>G)
c.306C>G (p.Asn102Lys)
c.723C>G (p.Asn241Lys)
c.58C>G
c.735C>G (p.Asn245Lys)
c.449C>G
n.735C>G
n.706C>G
c.870C>G (p.Asn290Lys)
c.585C>G (p.Asn195Lys)
n.36G>C
c.981C>G (p.Asn327Lys)
6g.10404537G=CA1609976732TFAP2A,TFAP2A-AS2c.717C= (p.Asn239=)
c.741C= (p.Asn247=)
c.*232C= (n.*232C=)
c.306C= (p.Asn102=)
c.723C= (p.Asn241=)
c.58C=
c.735C= (p.Asn245=)
c.449C=
n.735C=
n.706C=
c.870C= (p.Asn290=)
c.585C= (p.Asn195=)
n.36G=
c.981C= (p.Asn327=)
6g.10404537G>TCA362701191TFAP2A,TFAP2A-AS2c.717C>A (p.Asn239Lys)
c.741C>A (p.Asn247Lys)
c.*232C>A (n.*232C>A)
c.306C>A (p.Asn102Lys)
c.723C>A (p.Asn241Lys)
c.58C>A
c.735C>A (p.Asn245Lys)
c.449C>A
n.735C>A
n.706C>A
c.870C>A (p.Asn290Lys)
c.585C>A (p.Asn195Lys)
n.36G>T
c.981C>A (p.Asn327Lys)
6g.10404538T>ACA362701192TFAP2A,TFAP2A-AS2c.716A>T (p.Asn239Ile)
c.740A>T (p.Asn247Ile)
c.*231A>T (n.*231A>T)
c.305A>T (p.Asn102Ile)
c.722A>T (p.Asn241Ile)
c.57A>T
c.734A>T (p.Asn245Ile)
c.448A>T
n.734A>T
n.705A>T
c.869A>T (p.Asn290Ile)
c.584A>T (p.Asn195Ile)
n.37T>A
c.980A>T (p.Asn327Ile)
6g.10404538T>CCA362701193TFAP2A,TFAP2A-AS2c.716A>G (p.Asn239Ser)
c.740A>G (p.Asn247Ser)
c.*231A>G (n.*231A>G)
c.305A>G (p.Asn102Ser)
c.722A>G (p.Asn241Ser)
c.57A>G
c.734A>G (p.Asn245Ser)
c.448A>G
n.734A>G
n.705A>G
c.869A>G (p.Asn290Ser)
c.584A>G (p.Asn195Ser)
n.37T>C
c.980A>G (p.Asn327Ser)
6g.10404538T>GCA362701194TFAP2A,TFAP2A-AS2c.716A>C (p.Asn239Thr)
c.740A>C (p.Asn247Thr)
c.*231A>C (n.*231A>C)
c.305A>C (p.Asn102Thr)
c.722A>C (p.Asn241Thr)
c.57A>C
c.734A>C (p.Asn245Thr)
c.448A>C
n.734A>C
n.705A>C
c.869A>C (p.Asn290Thr)
c.584A>C (p.Asn195Thr)
n.37T>G
c.980A>C (p.Asn327Thr)
6g.10404539T>ACA362701195TFAP2A,TFAP2A-AS2c.715A>T (p.Asn239Tyr)
c.739A>T (p.Asn247Tyr)
c.*230A>T (n.*230A>T)
c.304A>T (p.Asn102Tyr)
c.721A>T (p.Asn241Tyr)
c.56A>T
c.733A>T (p.Asn245Tyr)
c.447A>T
n.733A>T
n.704A>T
c.868A>T (p.Asn290Tyr)
c.583A>T (p.Asn195Tyr)
n.38T>A
c.979A>T (p.Asn327Tyr)
6g.10404539T>CCA362701196TFAP2A,TFAP2A-AS2c.715A>G (p.Asn239Asp)
c.739A>G (p.Asn247Asp)
c.*230A>G (n.*230A>G)
c.304A>G (p.Asn102Asp)
c.721A>G (p.Asn241Asp)
c.56A>G
c.733A>G (p.Asn245Asp)
c.447A>G
n.733A>G
n.704A>G
c.868A>G (p.Asn290Asp)
c.583A>G (p.Asn195Asp)
n.38T>C
c.979A>G (p.Asn327Asp)
 ClinVar dbSNP
6g.10404539T>GCA362701197TFAP2A,TFAP2A-AS2c.715A>C (p.Asn239His)
c.739A>C (p.Asn247His)
c.*230A>C (n.*230A>C)
c.304A>C (p.Asn102His)
c.721A>C (p.Asn241His)
c.56A>C
c.733A>C (p.Asn245His)
c.447A>C
n.733A>C
n.704A>C
c.868A>C (p.Asn290His)
c.583A>C (p.Asn195His)
n.38T>G
c.979A>C (p.Asn327His)
 gnomAD v4
6g.10404540G>ACA448717477TFAP2A,TFAP2A-AS2c.714C>T (p.Leu238=)
c.738C>T (p.Leu246=)
c.*229C>T (n.*229C>T)
c.303C>T (p.Leu101=)
c.720C>T (p.Leu240=)
c.55C>T
c.732C>T (p.Leu244=)
c.446C>T
n.732C>T
n.703C>T
c.867C>T (p.Leu289=)
c.582C>T (p.Leu194=)
n.39G>A
c.978C>T (p.Leu326=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.10404540G>CCA448717474TFAP2A,TFAP2A-AS2c.714C>G (p.Leu238=)
c.738C>G (p.Leu246=)
c.*229C>G (n.*229C>G)
c.303C>G (p.Leu101=)
c.720C>G (p.Leu240=)
c.55C>G
c.732C>G (p.Leu244=)
c.446C>G
n.732C>G
n.703C>G
c.867C>G (p.Leu289=)
c.582C>G (p.Leu194=)
n.39G>C
c.978C>G (p.Leu326=)
 dbSNP gnomAD v4
6g.10404540G=CA1609976733TFAP2A,TFAP2A-AS2c.714C= (p.Leu238=)
c.738C= (p.Leu246=)
c.*229C= (n.*229C=)
c.303C= (p.Leu101=)
c.720C= (p.Leu240=)
c.55C=
c.732C= (p.Leu244=)
c.446C=
n.732C=
n.703C=
c.867C= (p.Leu289=)
c.582C= (p.Leu194=)
n.39G=
c.978C= (p.Leu326=)
6g.10404540G>TCA448717475TFAP2A,TFAP2A-AS2c.714C>A (p.Leu238=)
c.738C>A (p.Leu246=)
c.*229C>A (n.*229C>A)
c.303C>A (p.Leu101=)
c.720C>A (p.Leu240=)
c.55C>A
c.732C>A (p.Leu244=)
c.446C>A
n.732C>A
n.703C>A
c.867C>A (p.Leu289=)
c.582C>A (p.Leu194=)
n.39G>T
c.978C>A (p.Leu326=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404541A>CCA362701198TFAP2A,TFAP2A-AS2c.713T>G (p.Leu238Arg)
c.737T>G (p.Leu246Arg)
c.*228T>G (n.*228T>G)
c.302T>G (p.Leu101Arg)
c.719T>G (p.Leu240Arg)
c.54T>G
c.731T>G (p.Leu244Arg)
c.445T>G
n.731T>G
n.702T>G
c.866T>G (p.Leu289Arg)
c.581T>G (p.Leu194Arg)
n.40A>C
c.977T>G (p.Leu326Arg)
6g.10404541A>GCA362701199TFAP2A,TFAP2A-AS2c.713T>C (p.Leu238Pro)
c.737T>C (p.Leu246Pro)
c.*228T>C (n.*228T>C)
c.302T>C (p.Leu101Pro)
c.719T>C (p.Leu240Pro)
c.54T>C
c.731T>C (p.Leu244Pro)
c.445T>C
n.731T>C
n.702T>C
c.866T>C (p.Leu289Pro)
c.581T>C (p.Leu194Pro)
n.40A>G
c.977T>C (p.Leu326Pro)
6g.10404541A>TCA362701200TFAP2A,TFAP2A-AS2c.713T>A (p.Leu238His)
c.737T>A (p.Leu246His)
c.*228T>A (n.*228T>A)
c.302T>A (p.Leu101His)
c.719T>A (p.Leu240His)
c.54T>A
c.731T>A (p.Leu244His)
c.445T>A
n.731T>A
n.702T>A
c.866T>A (p.Leu289His)
c.581T>A (p.Leu194His)
n.40A>T
c.977T>A (p.Leu326His)
6g.10404542G>ACA362701202TFAP2A,TFAP2A-AS2c.712C>T (p.Leu238Phe)
c.736C>T (p.Leu246Phe)
c.*227C>T (n.*227C>T)
c.301C>T (p.Leu101Phe)
c.718C>T (p.Leu240Phe)
c.53C>T
c.730C>T (p.Leu244Phe)
c.444C>T
n.730C>T
n.701C>T
c.865C>T (p.Leu289Phe)
c.580C>T (p.Leu194Phe)
n.41G>A
c.976C>T (p.Leu326Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.10404542G>CCA362701201TFAP2A,TFAP2A-AS2c.712C>G (p.Leu238Val)
c.736C>G (p.Leu246Val)
c.*227C>G (n.*227C>G)
c.301C>G (p.Leu101Val)
c.718C>G (p.Leu240Val)
c.53C>G
c.730C>G (p.Leu244Val)
c.444C>G
n.730C>G
n.701C>G
c.865C>G (p.Leu289Val)
c.580C>G (p.Leu194Val)
n.41G>C
c.976C>G (p.Leu326Val)
6g.10404542G=CA1609976734TFAP2A,TFAP2A-AS2c.712C= (p.Leu238=)
c.736C= (p.Leu246=)
c.*227C= (n.*227C=)
c.301C= (p.Leu101=)
c.718C= (p.Leu240=)
c.53C=
c.730C= (p.Leu244=)
c.444C=
n.730C=
n.701C=
c.865C= (p.Leu289=)
c.580C= (p.Leu194=)
n.41G=
c.976C= (p.Leu326=)
6g.10404542G>TCA134049049TFAP2A,TFAP2A-AS2c.712C>A (p.Leu238Ile)
c.736C>A (p.Leu246Ile)
c.*227C>A (n.*227C>A)
c.301C>A (p.Leu101Ile)
c.718C>A (p.Leu240Ile)
c.53C>A
c.730C>A (p.Leu244Ile)
c.444C>A
n.730C>A
n.701C>A
c.865C>A (p.Leu289Ile)
c.580C>A (p.Leu194Ile)
n.41G>T
c.976C>A (p.Leu326Ile)
 dbSNP
6g.10404543A>CCA362701203TFAP2A,TFAP2A-AS2c.711T>G (p.Cys237Trp)
c.735T>G (p.Cys245Trp)
c.*226T>G (n.*226T>G)
c.300T>G (p.Cys100Trp)
c.717T>G (p.Cys239Trp)
c.52T>G
c.729T>G (p.Cys243Trp)
c.443T>G
n.729T>G
n.700T>G
c.864T>G (p.Cys288Trp)
c.579T>G (p.Cys193Trp)
n.42A>C
c.975T>G (p.Cys325Trp)
6g.10404543A>GCA448717493TFAP2A,TFAP2A-AS2c.711T>C (p.Cys237=)
c.735T>C (p.Cys245=)
c.*226T>C (n.*226T>C)
c.300T>C (p.Cys100=)
c.717T>C (p.Cys239=)
c.52T>C
c.729T>C (p.Cys243=)
c.443T>C
n.729T>C
n.700T>C
c.864T>C (p.Cys288=)
c.579T>C (p.Cys193=)
n.42A>G
c.975T>C (p.Cys325=)
6g.10404543A>TCA362701204TFAP2A,TFAP2A-AS2c.711T>A (p.Cys237Ter)
c.735T>A (p.Cys245Ter)
c.*226T>A (n.*226T>A)
c.300T>A (p.Cys100Ter)
c.717T>A (p.Cys239Ter)
c.52T>A
c.729T>A (p.Cys243Ter)
c.443T>A
n.729T>A
n.700T>A
c.864T>A (p.Cys288Ter)
c.579T>A (p.Cys193Ter)
n.42A>T
c.975T>A (p.Cys325Ter)
6g.10404544C>ACA362701205TFAP2A,TFAP2A-AS2c.710G>T (p.Cys237Phe)
c.734G>T (p.Cys245Phe)
c.*225G>T (n.*225G>T)
c.299G>T (p.Cys100Phe)
c.716G>T (p.Cys239Phe)
c.51G>T
c.728G>T (p.Cys243Phe)
c.442G>T
n.728G>T
n.699G>T
c.863G>T (p.Cys288Phe)
c.578G>T (p.Cys193Phe)
n.43C>A
c.974G>T (p.Cys325Phe)
6g.10404544C=CA1609976735TFAP2A,TFAP2A-AS2c.710G= (p.Cys237=)
c.734G= (p.Cys245=)
c.*225G= (n.*225G=)
c.299G= (p.Cys100=)
c.716G= (p.Cys239=)
c.51G=
c.728G= (p.Cys243=)
c.442G=
n.728G=
n.699G=
c.863G= (p.Cys288=)
c.578G= (p.Cys193=)
n.43C=
c.974G= (p.Cys325=)
6g.10404544C>GCA362701206TFAP2A,TFAP2A-AS2c.710G>C (p.Cys237Ser)
c.734G>C (p.Cys245Ser)
c.*225G>C (n.*225G>C)
c.299G>C (p.Cys100Ser)
c.716G>C (p.Cys239Ser)
c.51G>C
c.728G>C (p.Cys243Ser)
c.442G>C
n.728G>C
n.699G>C
c.863G>C (p.Cys288Ser)
c.578G>C (p.Cys193Ser)
n.43C>G
c.974G>C (p.Cys325Ser)
 dbSNP gnomAD v4
6g.10404544C>TCA362701207TFAP2A,TFAP2A-AS2c.710G>A (p.Cys237Tyr)
c.734G>A (p.Cys245Tyr)
c.*225G>A (n.*225G>A)
c.299G>A (p.Cys100Tyr)
c.716G>A (p.Cys239Tyr)
c.51G>A
c.728G>A (p.Cys243Tyr)
c.442G>A
n.728G>A
n.699G>A
c.863G>A (p.Cys288Tyr)
c.578G>A (p.Cys193Tyr)
n.43C>T
c.974G>A (p.Cys325Tyr)
 dbSNP gnomAD v4
6g.10404545A=CA1609976736TFAP2A,TFAP2A-AS2c.709T= (p.Cys237=)
c.733T= (p.Cys245=)
c.*224T= (n.*224T=)
c.298T= (p.Cys100=)
c.715T= (p.Cys239=)
c.50T=
c.727T= (p.Cys243=)
c.441T=
n.727T=
n.698T=
c.862T= (p.Cys288=)
c.577T= (p.Cys193=)
n.44A=
c.973T= (p.Cys325=)
6g.10404545A>CCA362701208TFAP2A,TFAP2A-AS2c.709T>G (p.Cys237Gly)
c.733T>G (p.Cys245Gly)
c.*224T>G (n.*224T>G)
c.298T>G (p.Cys100Gly)
c.715T>G (p.Cys239Gly)
c.50T>G
c.727T>G (p.Cys243Gly)
c.441T>G
n.727T>G
n.698T>G
c.862T>G (p.Cys288Gly)
c.577T>G (p.Cys193Gly)
n.44A>C
c.973T>G (p.Cys325Gly)
 dbSNP
6g.10404545A>GCA362701209TFAP2A,TFAP2A-AS2c.709T>C (p.Cys237Arg)
c.733T>C (p.Cys245Arg)
c.*224T>C (n.*224T>C)
c.298T>C (p.Cys100Arg)
c.715T>C (p.Cys239Arg)
c.50T>C
c.727T>C (p.Cys243Arg)
c.441T>C
n.727T>C
n.698T>C
c.862T>C (p.Cys288Arg)
c.577T>C (p.Cys193Arg)
n.44A>G
c.973T>C (p.Cys325Arg)
 dbSNP gnomAD v2
6g.10404545A>TCA362701210TFAP2A,TFAP2A-AS2c.709T>A (p.Cys237Ser)
c.733T>A (p.Cys245Ser)
c.*224T>A (n.*224T>A)
c.298T>A (p.Cys100Ser)
c.715T>A (p.Cys239Ser)
c.50T>A
c.727T>A (p.Cys243Ser)
c.441T>A
n.727T>A
n.698T>A
c.862T>A (p.Cys288Ser)
c.577T>A (p.Cys193Ser)
n.44A>T
c.973T>A (p.Cys325Ser)
6g.10404546C>ACA362701211TFAP2A,TFAP2A-AS2c.708G>T (p.Glu236Asp)
c.732G>T (p.Glu244Asp)
c.*223G>T (n.*223G>T)
c.297G>T (p.Glu99Asp)
c.714G>T (p.Glu238Asp)
c.49G>T
c.726G>T (p.Glu242Asp)
c.440G>T
n.726G>T
n.697G>T
c.861G>T (p.Glu287Asp)
c.576G>T (p.Glu192Asp)
n.45C>A
c.972G>T (p.Glu324Asp)
6g.10404546C=CA1609976737TFAP2A,TFAP2A-AS2c.708G= (p.Glu236=)
c.732G= (p.Glu244=)
c.*223G= (n.*223G=)
c.297G= (p.Glu99=)
c.714G= (p.Glu238=)
c.49G=
c.726G= (p.Glu242=)
c.440G=
n.726G=
n.697G=
c.861G= (p.Glu287=)
c.576G= (p.Glu192=)
n.45C=
c.972G= (p.Glu324=)
6g.10404546C>GCA362701212TFAP2A,TFAP2A-AS2c.708G>C (p.Glu236Asp)
c.732G>C (p.Glu244Asp)
c.*223G>C (n.*223G>C)
c.297G>C (p.Glu99Asp)
c.714G>C (p.Glu238Asp)
c.49G>C
c.726G>C (p.Glu242Asp)
c.440G>C
n.726G>C
n.697G>C
c.861G>C (p.Glu287Asp)
c.576G>C (p.Glu192Asp)
n.45C>G
c.972G>C (p.Glu324Asp)
 dbSNP gnomAD v4
6g.10404546C>TCA3631263TFAP2A,TFAP2A-AS2c.708G>A (p.Glu236=)
c.732G>A (p.Glu244=)
c.*223G>A (n.*223G>A)
c.297G>A (p.Glu99=)
c.714G>A (p.Glu238=)
c.49G>A
c.726G>A (p.Glu242=)
c.440G>A
n.726G>A
n.697G>A
c.861G>A (p.Glu287=)
c.576G>A (p.Glu192=)
n.45C>T
c.972G>A (p.Glu324=)
 dbSNP ExAC
6g.10404547T>ACA362701215TFAP2A,TFAP2A-AS2c.707A>T (p.Glu236Val)
c.731A>T (p.Glu244Val)
c.*222A>T (n.*222A>T)
c.296A>T (p.Glu99Val)
c.713A>T (p.Glu238Val)
c.48A>T
c.725A>T (p.Glu242Val)
c.439A>T
n.725A>T
n.696A>T
c.860A>T (p.Glu287Val)
c.575A>T (p.Glu192Val)
n.46T>A
c.971A>T (p.Glu324Val)
6g.10404547T>CCA362701214TFAP2A,TFAP2A-AS2c.707A>G (p.Glu236Gly)
c.731A>G (p.Glu244Gly)
c.*222A>G (n.*222A>G)
c.296A>G (p.Glu99Gly)
c.713A>G (p.Glu238Gly)
c.48A>G
c.725A>G (p.Glu242Gly)
c.439A>G
n.725A>G
n.696A>G
c.860A>G (p.Glu287Gly)
c.575A>G (p.Glu192Gly)
n.46T>C
c.971A>G (p.Glu324Gly)
6g.10404547T>GCA362701213TFAP2A,TFAP2A-AS2c.707A>C (p.Glu236Ala)
c.731A>C (p.Glu244Ala)
c.*222A>C (n.*222A>C)
c.296A>C (p.Glu99Ala)
c.713A>C (p.Glu238Ala)
c.48A>C
c.725A>C (p.Glu242Ala)
c.439A>C
n.725A>C
n.696A>C
c.860A>C (p.Glu287Ala)
c.575A>C (p.Glu192Ala)
n.46T>G
c.971A>C (p.Glu324Ala)
6g.10404548C>ACA362701216TFAP2A,TFAP2A-AS2c.706G>T (p.Glu236Ter)
c.730G>T (p.Glu244Ter)
c.*221G>T (n.*221G>T)
c.295G>T (p.Glu99Ter)
c.712G>T (p.Glu238Ter)
c.47G>T
c.724G>T (p.Glu242Ter)
c.438G>T
n.724G>T
n.695G>T
c.859G>T (p.Glu287Ter)
c.574G>T (p.Glu192Ter)
n.47C>A
c.970G>T (p.Glu324Ter)
6g.10404548C=CA1609976738TFAP2A,TFAP2A-AS2c.706G= (p.Glu236=)
c.730G= (p.Glu244=)
c.*221G= (n.*221G=)
c.295G= (p.Glu99=)
c.712G= (p.Glu238=)
c.47G=
c.724G= (p.Glu242=)
c.438G=
n.724G=
n.695G=
c.859G= (p.Glu287=)
c.574G= (p.Glu192=)
n.47C=
c.970G= (p.Glu324=)
6g.10404548C>GCA362701217TFAP2A,TFAP2A-AS2c.706G>C (p.Glu236Gln)
c.730G>C (p.Glu244Gln)
c.*221G>C (n.*221G>C)
c.295G>C (p.Glu99Gln)
c.712G>C (p.Glu238Gln)
c.47G>C
c.724G>C (p.Glu242Gln)
c.438G>C
n.724G>C
n.695G>C
c.859G>C (p.Glu287Gln)
c.574G>C (p.Glu192Gln)
n.47C>G
c.970G>C (p.Glu324Gln)
 dbSNP gnomAD v4
6g.10404548C>TCA134049061TFAP2A,TFAP2A-AS2c.706G>A (p.Glu236Lys)
c.730G>A (p.Glu244Lys)
c.*221G>A (n.*221G>A)
c.295G>A (p.Glu99Lys)
c.712G>A (p.Glu238Lys)
c.47G>A
c.724G>A (p.Glu242Lys)
c.438G>A
n.724G>A
n.695G>A
c.859G>A (p.Glu287Lys)
c.574G>A (p.Glu192Lys)
n.47C>T
c.970G>A (p.Glu324Lys)
 ClinVar dbSNP
6g.10404549G>ACA448717496TFAP2A,TFAP2A-AS2c.705C>T (p.Pro235=)
c.729C>T (p.Pro243=)
c.*220C>T (n.*220C>T)
c.294C>T (p.Pro98=)
c.711C>T (p.Pro237=)
c.46C>T
c.723C>T (p.Pro241=)
c.437C>T
n.723C>T
n.694C>T
c.858C>T (p.Pro286=)
c.573C>T (p.Pro191=)
n.48G>A
c.969C>T (p.Pro323=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404549G>CCA3631265TFAP2A,TFAP2A-AS2c.705C>G (p.Pro235=)
c.729C>G (p.Pro243=)
c.*220C>G (n.*220C>G)
c.294C>G (p.Pro98=)
c.711C>G (p.Pro237=)
c.46C>G
c.723C>G (p.Pro241=)
c.437C>G
n.723C>G
n.694C>G
c.858C>G (p.Pro286=)
c.573C>G (p.Pro191=)
n.48G>C
c.969C>G (p.Pro323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404549G=CA1609976739TFAP2A,TFAP2A-AS2c.705C= (p.Pro235=)
c.729C= (p.Pro243=)
c.*220C= (n.*220C=)
c.294C= (p.Pro98=)
c.711C= (p.Pro237=)
c.46C=
c.723C= (p.Pro241=)
c.437C=
n.723C=
n.694C=
c.858C= (p.Pro286=)
c.573C= (p.Pro191=)
n.48G=
c.969C= (p.Pro323=)
6g.10404549G>TCA3631264TFAP2A,TFAP2A-AS2c.705C>A (p.Pro235=)
c.729C>A (p.Pro243=)
c.*220C>A (n.*220C>A)
c.294C>A (p.Pro98=)
c.711C>A (p.Pro237=)
c.46C>A
c.723C>A (p.Pro241=)
c.437C>A
n.723C>A
n.694C>A
c.858C>A (p.Pro286=)
c.573C>A (p.Pro191=)
n.48G>T
c.969C>A (p.Pro323=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404550G>ACA362701218TFAP2A,TFAP2A-AS2c.704C>T (p.Pro235Leu)
c.728C>T (p.Pro243Leu)
c.*219C>T (n.*219C>T)
c.293C>T (p.Pro98Leu)
c.710C>T (p.Pro237Leu)
c.45C>T
c.722C>T (p.Pro241Leu)
c.436C>T
n.722C>T
n.693C>T
c.857C>T (p.Pro286Leu)
c.572C>T (p.Pro191Leu)
n.49G>A
c.968C>T (p.Pro323Leu)
6g.10404550G>CCA362701219TFAP2A,TFAP2A-AS2c.704C>G (p.Pro235Arg)
c.728C>G (p.Pro243Arg)
c.*219C>G (n.*219C>G)
c.293C>G (p.Pro98Arg)
c.710C>G (p.Pro237Arg)
c.45C>G
c.722C>G (p.Pro241Arg)
c.436C>G
n.722C>G
n.693C>G
c.857C>G (p.Pro286Arg)
c.572C>G (p.Pro191Arg)
n.49G>C
c.968C>G (p.Pro323Arg)
6g.10404550G>TCA362701220TFAP2A,TFAP2A-AS2c.704C>A (p.Pro235His)
c.728C>A (p.Pro243His)
c.*219C>A (n.*219C>A)
c.293C>A (p.Pro98His)
c.710C>A (p.Pro237His)
c.45C>A
c.722C>A (p.Pro241His)
c.436C>A
n.722C>A
n.693C>A
c.857C>A (p.Pro286His)
c.572C>A (p.Pro191His)
n.49G>T
c.968C>A (p.Pro323His)
6g.10404551G>ACA362701221TFAP2A,TFAP2A-AS2c.703C>T (p.Pro235Ser)
c.727C>T (p.Pro243Ser)
c.*218C>T (n.*218C>T)
c.292C>T (p.Pro98Ser)
c.709C>T (p.Pro237Ser)
c.44C>T
c.721C>T (p.Pro241Ser)
c.435C>T
n.721C>T
n.692C>T
c.856C>T (p.Pro286Ser)
c.571C>T (p.Pro191Ser)
n.50G>A
c.967C>T (p.Pro323Ser)
6g.10404551G>CCA362701222TFAP2A,TFAP2A-AS2c.703C>G (p.Pro235Ala)
c.727C>G (p.Pro243Ala)
c.*218C>G (n.*218C>G)
c.292C>G (p.Pro98Ala)
c.709C>G (p.Pro237Ala)
c.44C>G
c.721C>G (p.Pro241Ala)
c.435C>G
n.721C>G
n.692C>G
c.856C>G (p.Pro286Ala)
c.571C>G (p.Pro191Ala)
n.50G>C
c.967C>G (p.Pro323Ala)
 ClinVar
6g.10404551G>TCA362701223TFAP2A,TFAP2A-AS2c.703C>A (p.Pro235Thr)
c.727C>A (p.Pro243Thr)
c.*218C>A (n.*218C>A)
c.292C>A (p.Pro98Thr)
c.709C>A (p.Pro237Thr)
c.44C>A
c.721C>A (p.Pro241Thr)
c.435C>A
n.721C>A
n.692C>A
c.856C>A (p.Pro286Thr)
c.571C>A (p.Pro191Thr)
n.50G>T
c.967C>A (p.Pro323Thr)
6g.10404552T>ACA448717498TFAP2A,TFAP2A-AS2c.702A>T (p.Pro234=)
c.726A>T (p.Pro242=)
c.*217A>T (n.*217A>T)
c.291A>T (p.Pro97=)
c.708A>T (p.Pro236=)
c.43A>T
c.720A>T (p.Pro240=)
c.434A>T
n.720A>T
n.691A>T
c.855A>T (p.Pro285=)
c.570A>T (p.Pro190=)
n.51T>A
c.966A>T (p.Pro322=)
6g.10404552T>CCA448717499TFAP2A,TFAP2A-AS2c.702A>G (p.Pro234=)
c.726A>G (p.Pro242=)
c.*217A>G (n.*217A>G)
c.291A>G (p.Pro97=)
c.708A>G (p.Pro236=)
c.43A>G
c.720A>G (p.Pro240=)
c.434A>G
n.720A>G
n.691A>G
c.855A>G (p.Pro285=)
c.570A>G (p.Pro190=)
n.51T>C
c.966A>G (p.Pro322=)
6g.10404552T>GCA448717500TFAP2A,TFAP2A-AS2c.702A>C (p.Pro234=)
c.726A>C (p.Pro242=)
c.*217A>C (n.*217A>C)
c.291A>C (p.Pro97=)
c.708A>C (p.Pro236=)
c.43A>C
c.720A>C (p.Pro240=)
c.434A>C
n.720A>C
n.691A>C
c.855A>C (p.Pro285=)
c.570A>C (p.Pro190=)
n.51T>G
c.966A>C (p.Pro322=)
6g.10404553G>ACA362701226TFAP2A,TFAP2A-AS2c.701C>T (p.Pro234Leu)
c.725C>T (p.Pro242Leu)
c.*216C>T (n.*216C>T)
c.290C>T (p.Pro97Leu)
c.707C>T (p.Pro236Leu)
c.42C>T
c.719C>T (p.Pro240Leu)
c.433C>T
n.719C>T
n.690C>T
c.854C>T (p.Pro285Leu)
c.569C>T (p.Pro190Leu)
n.52G>A
c.965C>T (p.Pro322Leu)
6g.10404553G>CCA362701225TFAP2A,TFAP2A-AS2c.701C>G (p.Pro234Arg)
c.725C>G (p.Pro242Arg)
c.*216C>G (n.*216C>G)
c.290C>G (p.Pro97Arg)
c.707C>G (p.Pro236Arg)
c.42C>G
c.719C>G (p.Pro240Arg)
c.433C>G
n.719C>G
n.690C>G
c.854C>G (p.Pro285Arg)
c.569C>G (p.Pro190Arg)
n.52G>C
c.965C>G (p.Pro322Arg)
 COSMIC COSMIC COSMIC
6g.10404553G=CA1609976740TFAP2A,TFAP2A-AS2c.701C= (p.Pro234=)
c.725C= (p.Pro242=)
c.*216C= (n.*216C=)
c.290C= (p.Pro97=)
c.707C= (p.Pro236=)
c.42C=
c.719C= (p.Pro240=)
c.433C=
n.719C=
n.690C=
c.854C= (p.Pro285=)
c.569C= (p.Pro190=)
n.52G=
c.965C= (p.Pro322=)
6g.10404553G>TCA362701224TFAP2A,TFAP2A-AS2c.701C>A (p.Pro234Gln)
c.725C>A (p.Pro242Gln)
c.*216C>A (n.*216C>A)
c.290C>A (p.Pro97Gln)
c.707C>A (p.Pro236Gln)
c.42C>A
c.719C>A (p.Pro240Gln)
c.433C>A
n.719C>A
n.690C>A
c.854C>A (p.Pro285Gln)
c.569C>A (p.Pro190Gln)
n.52G>T
c.965C>A (p.Pro322Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.10404554G>ACA362701227TFAP2A,TFAP2A-AS2c.700C>T (p.Pro234Ser)
c.724C>T (p.Pro242Ser)
c.*215C>T (n.*215C>T)
c.289C>T (p.Pro97Ser)
c.706C>T (p.Pro236Ser)
c.41C>T
c.718C>T (p.Pro240Ser)
c.432C>T
n.718C>T
n.689C>T
c.853C>T (p.Pro285Ser)
c.568C>T (p.Pro190Ser)
n.53G>A
c.964C>T (p.Pro322Ser)
6g.10404554G>CCA362701228TFAP2A,TFAP2A-AS2c.700C>G (p.Pro234Ala)
c.724C>G (p.Pro242Ala)
c.*215C>G (n.*215C>G)
c.289C>G (p.Pro97Ala)
c.706C>G (p.Pro236Ala)
c.41C>G
c.718C>G (p.Pro240Ala)
c.432C>G
n.718C>G
n.689C>G
c.853C>G (p.Pro285Ala)
c.568C>G (p.Pro190Ala)
n.53G>C
c.964C>G (p.Pro322Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
6g.10404554G=CA1609976741TFAP2A,TFAP2A-AS2c.700C= (p.Pro234=)
c.724C= (p.Pro242=)
c.*215C= (n.*215C=)
c.289C= (p.Pro97=)
c.706C= (p.Pro236=)
c.41C=
c.718C= (p.Pro240=)
c.432C=
n.718C=
n.689C=
c.853C= (p.Pro285=)
c.568C= (p.Pro190=)
n.53G=
c.964C= (p.Pro322=)
6g.10404554G>TCA362701229TFAP2A,TFAP2A-AS2c.700C>A (p.Pro234Thr)
c.724C>A (p.Pro242Thr)
c.*215C>A (n.*215C>A)
c.289C>A (p.Pro97Thr)
c.706C>A (p.Pro236Thr)
c.41C>A
c.718C>A (p.Pro240Thr)
c.432C>A
n.718C>A
n.689C>A
c.853C>A (p.Pro285Thr)
c.568C>A (p.Pro190Thr)
n.53G>T
c.964C>A (p.Pro322Thr)
6g.10404555T>ACA448717504TFAP2A,TFAP2A-AS2c.699A>T (p.Ser233=)
c.723A>T (p.Ser241=)
c.*214A>T (n.*214A>T)
c.288A>T (p.Ser96=)
c.705A>T (p.Ser235=)
c.40A>T
c.717A>T (p.Ser239=)
c.431A>T
n.717A>T
n.688A>T
c.852A>T (p.Ser284=)
c.567A>T (p.Ser189=)
n.54T>A
c.963A>T (p.Ser321=)
6g.10404555T>CCA448717505TFAP2A,TFAP2A-AS2c.699A>G (p.Ser233=)
c.723A>G (p.Ser241=)
c.*214A>G (n.*214A>G)
c.288A>G (p.Ser96=)
c.705A>G (p.Ser235=)
c.40A>G
c.717A>G (p.Ser239=)
c.431A>G
n.717A>G
n.688A>G
c.852A>G (p.Ser284=)
c.567A>G (p.Ser189=)
n.54T>C
c.963A>G (p.Ser321=)
6g.10404555T>GCA3631266TFAP2A,TFAP2A-AS2c.699A>C (p.Ser233=)
c.723A>C (p.Ser241=)
c.*214A>C (n.*214A>C)
c.288A>C (p.Ser96=)
c.705A>C (p.Ser235=)
c.40A>C
c.717A>C (p.Ser239=)
c.431A>C
n.717A>C
n.688A>C
c.852A>C (p.Ser284=)
c.567A>C (p.Ser189=)
n.54T>G
c.963A>C (p.Ser321=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404555T=CA1609976742TFAP2A,TFAP2A-AS2c.699A= (p.Ser233=)
c.723A= (p.Ser241=)
c.*214A= (n.*214A=)
c.288A= (p.Ser96=)
c.705A= (p.Ser235=)
c.40A=
c.717A= (p.Ser239=)
c.431A=
n.717A=
n.688A=
c.852A= (p.Ser284=)
c.567A= (p.Ser189=)
n.54T=
c.963A= (p.Ser321=)
6g.10404556G>ACA362701230TFAP2A,TFAP2A-AS2c.698C>T (p.Ser233Leu)
c.722C>T (p.Ser241Leu)
c.*213C>T (n.*213C>T)
c.287C>T (p.Ser96Leu)
c.704C>T (p.Ser235Leu)
c.39C>T
c.716C>T (p.Ser239Leu)
c.430C>T
n.716C>T
n.687C>T
c.851C>T (p.Ser284Leu)
c.566C>T (p.Ser189Leu)
n.55G>A
c.962C>T (p.Ser321Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.10404556G>CCA362701232TFAP2A,TFAP2A-AS2c.698C>G (p.Ser233Ter)
c.722C>G (p.Ser241Ter)
c.*213C>G (n.*213C>G)
c.287C>G (p.Ser96Ter)
c.704C>G (p.Ser235Ter)
c.39C>G
c.716C>G (p.Ser239Ter)
c.430C>G
n.716C>G
n.687C>G
c.851C>G (p.Ser284Ter)
c.566C>G (p.Ser189Ter)
n.55G>C
c.962C>G (p.Ser321Ter)
6g.10404556G=CA1609976743TFAP2A,TFAP2A-AS2c.698C= (p.Ser233=)
c.722C= (p.Ser241=)
c.*213C= (n.*213C=)
c.287C= (p.Ser96=)
c.704C= (p.Ser235=)
c.39C=
c.716C= (p.Ser239=)
c.430C=
n.716C=
n.687C=
c.851C= (p.Ser284=)
c.566C= (p.Ser189=)
n.55G=
c.962C= (p.Ser321=)
6g.10404556G>TCA362701233TFAP2A,TFAP2A-AS2c.698C>A (p.Ser233Ter)
c.722C>A (p.Ser241Ter)
c.*213C>A (n.*213C>A)
c.287C>A (p.Ser96Ter)
c.704C>A (p.Ser235Ter)
c.39C>A
c.716C>A (p.Ser239Ter)
c.430C>A
n.716C>A
n.687C>A
c.851C>A (p.Ser284Ter)
c.566C>A (p.Ser189Ter)
n.55G>T
c.962C>A (p.Ser321Ter)
6g.10404557A>CCA362701235TFAP2A,TFAP2A-AS2c.697T>G (p.Ser233Ala)
c.721T>G (p.Ser241Ala)
c.*212T>G (n.*212T>G)
c.286T>G (p.Ser96Ala)
c.703T>G (p.Ser235Ala)
c.38T>G
c.715T>G (p.Ser239Ala)
c.429T>G
n.715T>G
n.686T>G
c.850T>G (p.Ser284Ala)
c.565T>G (p.Ser189Ala)
n.56A>C
c.961T>G (p.Ser321Ala)
6g.10404557A>GCA362701237TFAP2A,TFAP2A-AS2c.697T>C (p.Ser233Pro)
c.721T>C (p.Ser241Pro)
c.*212T>C (n.*212T>C)
c.286T>C (p.Ser96Pro)
c.703T>C (p.Ser235Pro)
c.38T>C
c.715T>C (p.Ser239Pro)
c.429T>C
n.715T>C
n.686T>C
c.850T>C (p.Ser284Pro)
c.565T>C (p.Ser189Pro)
n.56A>G
c.961T>C (p.Ser321Pro)
 ClinVar dbSNP
6g.10404557A>TCA362701238TFAP2A,TFAP2A-AS2c.697T>A (p.Ser233Thr)
c.721T>A (p.Ser241Thr)
c.*212T>A (n.*212T>A)
c.286T>A (p.Ser96Thr)
c.703T>A (p.Ser235Thr)
c.38T>A
c.715T>A (p.Ser239Thr)
c.429T>A
n.715T>A
n.686T>A
c.850T>A (p.Ser284Thr)
c.565T>A (p.Ser189Thr)
n.56A>T
c.961T>A (p.Ser321Thr)
6g.10404558G>ACA448717586TFAP2A,TFAP2A-AS2c.696C>T (p.Leu232=)
c.720C>T (p.Leu240=)
c.*211C>T (n.*211C>T)
c.285C>T (p.Leu95=)
c.702C>T (p.Leu234=)
c.37C>T
c.714C>T (p.Leu238=)
c.428C>T
n.714C>T
n.685C>T
c.849C>T (p.Leu283=)
c.564C>T (p.Leu188=)
n.57G>A
c.960C>T (p.Leu320=)
 gnomAD v4
6g.10404558G>CCA448717587TFAP2A,TFAP2A-AS2c.696C>G (p.Leu232=)
c.720C>G (p.Leu240=)
c.*211C>G (n.*211C>G)
c.285C>G (p.Leu95=)
c.702C>G (p.Leu234=)
c.37C>G
c.714C>G (p.Leu238=)
c.428C>G
n.714C>G
n.685C>G
c.849C>G (p.Leu283=)
c.564C>G (p.Leu188=)
n.57G>C
c.960C>G (p.Leu320=)
 gnomAD v4
6g.10404558G>TCA448717589TFAP2A,TFAP2A-AS2c.696C>A (p.Leu232=)
c.720C>A (p.Leu240=)
c.*211C>A (n.*211C>A)
c.285C>A (p.Leu95=)
c.702C>A (p.Leu234=)
c.37C>A
c.714C>A (p.Leu238=)
c.428C>A
n.714C>A
n.685C>A
c.849C>A (p.Leu283=)
c.564C>A (p.Leu188=)
n.57G>T
c.960C>A (p.Leu320=)
6g.10404559A=CA1609976744TFAP2A,TFAP2A-AS2c.695T= (p.Leu232=)
c.719T= (p.Leu240=)
c.*210T= (n.*210T=)
c.284T= (p.Leu95=)
c.701T= (p.Leu234=)
c.36T=
c.713T= (p.Leu238=)
c.427T=
n.713T=
n.684T=
c.848T= (p.Leu283=)
c.563T= (p.Leu188=)
n.58A=
c.959T= (p.Leu320=)
6g.10404559A>CCA362701240TFAP2A,TFAP2A-AS2c.695T>G (p.Leu232Arg)
c.719T>G (p.Leu240Arg)
c.*210T>G (n.*210T>G)
c.284T>G (p.Leu95Arg)
c.701T>G (p.Leu234Arg)
c.36T>G
c.713T>G (p.Leu238Arg)
c.427T>G
n.713T>G
n.684T>G
c.848T>G (p.Leu283Arg)
c.563T>G (p.Leu188Arg)
n.58A>C
c.959T>G (p.Leu320Arg)
6g.10404559A>GCA362701241TFAP2A,TFAP2A-AS2c.695T>C (p.Leu232Pro)
c.719T>C (p.Leu240Pro)
c.*210T>C (n.*210T>C)
c.284T>C (p.Leu95Pro)
c.701T>C (p.Leu234Pro)
c.36T>C
c.713T>C (p.Leu238Pro)
c.427T>C
n.713T>C
n.684T>C
c.848T>C (p.Leu283Pro)
c.563T>C (p.Leu188Pro)
n.58A>G
c.959T>C (p.Leu320Pro)
 ClinVar dbSNP
6g.10404559A>TCA362701243TFAP2A,TFAP2A-AS2c.695T>A (p.Leu232His)
c.719T>A (p.Leu240His)
c.*210T>A (n.*210T>A)
c.284T>A (p.Leu95His)
c.701T>A (p.Leu234His)
c.36T>A
c.713T>A (p.Leu238His)
c.427T>A
n.713T>A
n.684T>A
c.848T>A (p.Leu283His)
c.563T>A (p.Leu188His)
n.58A>T
c.959T>A (p.Leu320His)
6g.10404560G>ACA362701249TFAP2A,TFAP2A-AS2c.694C>T (p.Leu232Phe)
c.718C>T (p.Leu240Phe)
c.*209C>T (n.*209C>T)
c.283C>T (p.Leu95Phe)
c.700C>T (p.Leu234Phe)
c.35C>T
c.712C>T (p.Leu238Phe)
c.426C>T
n.712C>T
n.683C>T
c.847C>T (p.Leu283Phe)
c.562C>T (p.Leu188Phe)
n.59G>A
c.958C>T (p.Leu320Phe)
 gnomAD v4
6g.10404560G>CCA362701247TFAP2A,TFAP2A-AS2c.694C>G (p.Leu232Val)
c.718C>G (p.Leu240Val)
c.*209C>G (n.*209C>G)
c.283C>G (p.Leu95Val)
c.700C>G (p.Leu234Val)
c.35C>G
c.712C>G (p.Leu238Val)
c.426C>G
n.712C>G
n.683C>G
c.847C>G (p.Leu283Val)
c.562C>G (p.Leu188Val)
n.59G>C
c.958C>G (p.Leu320Val)
 dbSNP gnomAD v2 gnomAD v4
6g.10404560G=CA1609976745TFAP2A,TFAP2A-AS2c.694C= (p.Leu232=)
c.718C= (p.Leu240=)
c.*209C= (n.*209C=)
c.283C= (p.Leu95=)
c.700C= (p.Leu234=)
c.35C=
c.712C= (p.Leu238=)
c.426C=
n.712C=
n.683C=
c.847C= (p.Leu283=)
c.562C= (p.Leu188=)
n.59G=
c.958C= (p.Leu320=)
6g.10404560G>TCA362701245TFAP2A,TFAP2A-AS2c.694C>A (p.Leu232Ile)
c.718C>A (p.Leu240Ile)
c.*209C>A (n.*209C>A)
c.283C>A (p.Leu95Ile)
c.700C>A (p.Leu234Ile)
c.35C>A
c.712C>A (p.Leu238Ile)
c.426C>A
n.712C>A
n.683C>A
c.847C>A (p.Leu283Ile)
c.562C>A (p.Leu188Ile)
n.59G>T
c.958C>A (p.Leu320Ile)
 dbSNP
6g.10404561C>ACA448717591TFAP2A,TFAP2A-AS2c.693G>T (p.Arg231=)
c.717G>T (p.Arg239=)
c.*208G>T (n.*208G>T)
c.282G>T (p.Arg94=)
c.699G>T (p.Arg233=)
c.34G>T
c.711G>T (p.Arg237=)
c.425G>T
n.711G>T
n.682G>T
c.846G>T (p.Arg282=)
c.561G>T (p.Arg187=)
n.60C>A
c.957G>T (p.Arg319=)
6g.10404561C=CA1609976746TFAP2A,TFAP2A-AS2c.693G= (p.Arg231=)
c.717G= (p.Arg239=)
c.*208G= (n.*208G=)
c.282G= (p.Arg94=)
c.699G= (p.Arg233=)
c.34G=
c.711G= (p.Arg237=)
c.425G=
n.711G=
n.682G=
c.846G= (p.Arg282=)
c.561G= (p.Arg187=)
n.60C=
c.957G= (p.Arg319=)
6g.10404561C>GCA448717592TFAP2A,TFAP2A-AS2c.693G>C (p.Arg231=)
c.717G>C (p.Arg239=)
c.*208G>C (n.*208G>C)
c.282G>C (p.Arg94=)
c.699G>C (p.Arg233=)
c.34G>C
c.711G>C (p.Arg237=)
c.425G>C
n.711G>C
n.682G>C
c.846G>C (p.Arg282=)
c.561G>C (p.Arg187=)
n.60C>G
c.957G>C (p.Arg319=)
 gnomAD v4
6g.10404561C>TCA3631267TFAP2A,TFAP2A-AS2c.693G>A (p.Arg231=)
c.717G>A (p.Arg239=)
c.*208G>A (n.*208G>A)
c.282G>A (p.Arg94=)
c.699G>A (p.Arg233=)
c.34G>A
c.711G>A (p.Arg237=)
c.425G>A
n.711G>A
n.682G>A
c.846G>A (p.Arg282=)
c.561G>A (p.Arg187=)
n.60C>T
c.957G>A (p.Arg319=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404562C>ACA362701252TFAP2A,TFAP2A-AS2c.692G>T (p.Arg231Leu)
c.716G>T (p.Arg239Leu)
c.*207G>T (n.*207G>T)
c.281G>T (p.Arg94Leu)
c.698G>T (p.Arg233Leu)
c.33G>T
c.710G>T (p.Arg237Leu)
c.424G>T
n.710G>T
n.681G>T
c.845G>T (p.Arg282Leu)
c.560G>T (p.Arg187Leu)
n.61C>A
c.956G>T (p.Arg319Leu)
6g.10404562C=CA1609976747TFAP2A,TFAP2A-AS2c.692G= (p.Arg231=)
c.716G= (p.Arg239=)
c.*207G= (n.*207G=)
c.281G= (p.Arg94=)
c.698G= (p.Arg233=)
c.33G=
c.710G= (p.Arg237=)
c.424G=
n.710G=
n.681G=
c.845G= (p.Arg282=)
c.560G= (p.Arg187=)
n.61C=
c.956G= (p.Arg319=)
6g.10404562C>GCA134049079TFAP2A,TFAP2A-AS2c.692G>C (p.Arg231Pro)
c.716G>C (p.Arg239Pro)
c.*207G>C (n.*207G>C)
c.281G>C (p.Arg94Pro)
c.698G>C (p.Arg233Pro)
c.33G>C
c.710G>C (p.Arg237Pro)
c.424G>C
n.710G>C
n.681G>C
c.845G>C (p.Arg282Pro)
c.560G>C (p.Arg187Pro)
n.61C>G
c.956G>C (p.Arg319Pro)
 ClinVar dbSNP
6g.10404562C>TCA004722TFAP2A,TFAP2A-AS2c.692G>A (p.Arg231Gln)
c.716G>A (p.Arg239Gln)
c.*207G>A (n.*207G>A)
c.281G>A (p.Arg94Gln)
c.698G>A (p.Arg233Gln)
c.33G>A
c.710G>A (p.Arg237Gln)
c.424G>A
n.710G>A
n.681G>A
c.845G>A (p.Arg282Gln)
c.560G>A (p.Arg187Gln)
n.61C>T
c.956G>A (p.Arg319Gln)
 ClinVar dbSNP
6g.10404563G>ACA362701255TFAP2A,TFAP2A-AS2c.691C>T (p.Arg231Trp)
c.715C>T (p.Arg239Trp)
c.*206C>T (n.*206C>T)
c.280C>T (p.Arg94Trp)
c.697C>T (p.Arg233Trp)
c.32C>T
c.709C>T (p.Arg237Trp)
c.423C>T
n.709C>T
n.680C>T
c.844C>T (p.Arg282Trp)
c.559C>T (p.Arg187Trp)
n.62G>A
c.955C>T (p.Arg319Trp)
6g.10404563G>CCA134049088TFAP2A,TFAP2A-AS2c.691C>G (p.Arg231Gly)
c.715C>G (p.Arg239Gly)
c.*206C>G (n.*206C>G)
c.280C>G (p.Arg94Gly)
c.697C>G (p.Arg233Gly)
c.32C>G
c.709C>G (p.Arg237Gly)
c.423C>G
n.709C>G
n.680C>G
c.844C>G (p.Arg282Gly)
c.559C>G (p.Arg187Gly)
n.62G>C
c.955C>G (p.Arg319Gly)
 dbSNP
6g.10404563G=CA1609976748TFAP2A,TFAP2A-AS2c.691C= (p.Arg231=)
c.715C= (p.Arg239=)
c.*206C= (n.*206C=)
c.280C= (p.Arg94=)
c.697C= (p.Arg233=)
c.32C=
c.709C= (p.Arg237=)
c.423C=
n.709C=
n.680C=
c.844C= (p.Arg282=)
c.559C= (p.Arg187=)
n.62G=
c.955C= (p.Arg319=)
6g.10404563G>TCA448717595TFAP2A,TFAP2A-AS2c.691C>A (p.Arg231=)
c.715C>A (p.Arg239=)
c.*206C>A (n.*206C>A)
c.280C>A (p.Arg94=)
c.697C>A (p.Arg233=)
c.32C>A
c.709C>A (p.Arg237=)
c.423C>A
n.709C>A
n.680C>A
c.844C>A (p.Arg282=)
c.559C>A (p.Arg187=)
n.62G>T
c.955C>A (p.Arg319=)
 gnomAD v4
6g.10404564C>ACA448717597TFAP2A,TFAP2A-AS2c.690G>T (p.Arg230=)
c.714G>T (p.Arg238=)
c.*205G>T (n.*205G>T)
c.279G>T (p.Arg93=)
c.696G>T (p.Arg232=)
c.31G>T
c.708G>T (p.Arg236=)
c.422G>T
n.708G>T
n.679G>T
c.843G>T (p.Arg281=)
c.558G>T (p.Arg186=)
n.63C>A
c.954G>T (p.Arg318=)
6g.10404564C=CA1609976749TFAP2A,TFAP2A-AS2c.690G= (p.Arg230=)
c.714G= (p.Arg238=)
c.*205G= (n.*205G=)
c.279G= (p.Arg93=)
c.696G= (p.Arg232=)
c.31G=
c.708G= (p.Arg236=)
c.422G=
n.708G=
n.679G=
c.843G= (p.Arg281=)
c.558G= (p.Arg186=)
n.63C=
c.954G= (p.Arg318=)
6g.10404564C>GCA448717600TFAP2A,TFAP2A-AS2c.690G>C (p.Arg230=)
c.714G>C (p.Arg238=)
c.*205G>C (n.*205G>C)
c.279G>C (p.Arg93=)
c.696G>C (p.Arg232=)
c.31G>C
c.708G>C (p.Arg236=)
c.422G>C
n.708G>C
n.679G>C
c.843G>C (p.Arg281=)
c.558G>C (p.Arg186=)
n.63C>G
c.954G>C (p.Arg318=)
 dbSNP
6g.10404564C>TCA3631268TFAP2A,TFAP2A-AS2c.690G>A (p.Arg230=)
c.714G>A (p.Arg238=)
c.*205G>A (n.*205G>A)
c.279G>A (p.Arg93=)
c.696G>A (p.Arg232=)
c.31G>A
c.708G>A (p.Arg236=)
c.422G>A
n.708G>A
n.679G>A
c.843G>A (p.Arg281=)
c.558G>A (p.Arg186=)
n.63C>T
c.954G>A (p.Arg318=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404565delCA645560345TFAP2A,TFAP2A-AS2c.690del (p.Arg231GlyfsTer29)
c.714del (p.Arg239GlyfsTer29)
c.*205del (n.*205del)
c.279del (p.Arg94GlyfsTer29)
c.696del (p.Arg233GlyfsTer29)
c.31del
c.708del (p.Arg237GlyfsTer29)
c.422del
n.708del
n.679del
c.843del (p.Arg282GlyfsTer29)
c.558del (p.Arg187GlyfsTer29)
n.64del
c.954del (p.Arg319GlyfsTer29)
 COSMIC COSMIC COSMIC
6g.10404565_10404576delCA2580074210TFAP2A,TFAP2A-AS2c.679_690del (p.Glu227_Arg230del)
c.703_714del (p.Glu235_Arg238del)
c.*194_*205del (n.*194_*205del)
c.268_279del (p.Glu90_Arg93del)
c.685_696del (p.Glu229_Arg232del)
c.20_31del
c.697_708del (p.Glu233_Arg236del)
c.411_422del
n.697_708del
n.668_679del
c.832_843del (p.Glu278_Arg281del)
c.547_558del (p.Glu183_Arg186del)
n.64_75del
c.943_954del (p.Glu315_Arg318del)
 ClinVar
6g.10404565C>ACA362701259TFAP2A,TFAP2A-AS2c.689G>T (p.Arg230Leu)
c.713G>T (p.Arg238Leu)
c.*204G>T (n.*204G>T)
c.278G>T (p.Arg93Leu)
c.695G>T (p.Arg232Leu)
c.30G>T
c.707G>T (p.Arg236Leu)
c.421G>T
n.707G>T
n.678G>T
c.842G>T (p.Arg281Leu)
c.557G>T (p.Arg186Leu)
n.64C>A
c.953G>T (p.Arg318Leu)
6g.10404565C>GCA362701261TFAP2A,TFAP2A-AS2c.689G>C (p.Arg230Pro)
c.713G>C (p.Arg238Pro)
c.*204G>C (n.*204G>C)
c.278G>C (p.Arg93Pro)
c.695G>C (p.Arg232Pro)
c.30G>C
c.707G>C (p.Arg236Pro)
c.421G>C
n.707G>C
n.678G>C
c.842G>C (p.Arg281Pro)
c.557G>C (p.Arg186Pro)
n.64C>G
c.953G>C (p.Arg318Pro)
 ClinVar dbSNP
6g.10404565C>TCA362701263TFAP2A,TFAP2A-AS2c.689G>A (p.Arg230Gln)
c.713G>A (p.Arg238Gln)
c.*204G>A (n.*204G>A)
c.278G>A (p.Arg93Gln)
c.695G>A (p.Arg232Gln)
c.30G>A
c.707G>A (p.Arg236Gln)
c.421G>A
n.707G>A
n.678G>A
c.842G>A (p.Arg281Gln)
c.557G>A (p.Arg186Gln)
n.64C>T
c.953G>A (p.Arg318Gln)
6g.10404566G>ACA362701265TFAP2A,TFAP2A-AS2c.688C>T (p.Arg230Trp)
c.712C>T (p.Arg238Trp)
c.*203C>T (n.*203C>T)
c.277C>T (p.Arg93Trp)
c.694C>T (p.Arg232Trp)
c.29C>T
c.706C>T (p.Arg236Trp)
c.420C>T
n.706C>T
n.677C>T
c.841C>T (p.Arg281Trp)
c.556C>T (p.Arg186Trp)
n.65G>A
c.952C>T (p.Arg318Trp)
 ClinVar dbSNP COSMIC COSMIC COSMIC
6g.10404566G>CCA362701267TFAP2A,TFAP2A-AS2c.688C>G (p.Arg230Gly)
c.712C>G (p.Arg238Gly)
c.*203C>G (n.*203C>G)
c.277C>G (p.Arg93Gly)
c.694C>G (p.Arg232Gly)
c.29C>G
c.706C>G (p.Arg236Gly)
c.420C>G
n.706C>G
n.677C>G
c.841C>G (p.Arg281Gly)
c.556C>G (p.Arg186Gly)
n.65G>C
c.952C>G (p.Arg318Gly)
6g.10404566G=CA1609976750TFAP2A,TFAP2A-AS2c.688C= (p.Arg230=)
c.712C= (p.Arg238=)
c.*203C= (n.*203C=)
c.277C= (p.Arg93=)
c.694C= (p.Arg232=)
c.29C=
c.706C= (p.Arg236=)
c.420C=
n.706C=
n.677C=
c.841C= (p.Arg281=)
c.556C= (p.Arg186=)
n.65G=
c.952C= (p.Arg318=)
6g.10404566G>TCA448717602TFAP2A,TFAP2A-AS2c.688C>A (p.Arg230=)
c.712C>A (p.Arg238=)
c.*203C>A (n.*203C>A)
c.277C>A (p.Arg93=)
c.694C>A (p.Arg232=)
c.29C>A
c.706C>A (p.Arg236=)
c.420C>A
n.706C>A
n.677C>A
c.841C>A (p.Arg281=)
c.556C>A (p.Arg186=)
n.65G>T
c.952C>A (p.Arg318=)
6g.10404567C>ACA362701268TFAP2A,TFAP2A-AS2c.687G>T (p.Gln229His)
c.711G>T (p.Gln237His)
c.*202G>T (n.*202G>T)
c.276G>T (p.Gln92His)
c.693G>T (p.Gln231His)
c.28G>T
c.705G>T (p.Gln235His)
c.419G>T
n.705G>T
n.676G>T
c.840G>T (p.Gln280His)
c.555G>T (p.Gln185His)
n.66C>A
c.951G>T (p.Gln317His)
6g.10404567C>GCA362701270TFAP2A,TFAP2A-AS2c.687G>C (p.Gln229His)
c.711G>C (p.Gln237His)
c.*202G>C (n.*202G>C)
c.276G>C (p.Gln92His)
c.693G>C (p.Gln231His)
c.28G>C
c.705G>C (p.Gln235His)
c.419G>C
n.705G>C
n.676G>C
c.840G>C (p.Gln280His)
c.555G>C (p.Gln185His)
n.66C>G
c.951G>C (p.Gln317His)
6g.10404567C>TCA448717603TFAP2A,TFAP2A-AS2c.687G>A (p.Gln229=)
c.711G>A (p.Gln237=)
c.*202G>A (n.*202G>A)
c.276G>A (p.Gln92=)
c.693G>A (p.Gln231=)
c.28G>A
c.705G>A (p.Gln235=)
c.419G>A
n.705G>A
n.676G>A
c.840G>A (p.Gln280=)
c.555G>A (p.Gln185=)
n.66C>T
c.951G>A (p.Gln317=)
 gnomAD v4
6g.10404568T>ACA362701276TFAP2A,TFAP2A-AS2c.686A>T (p.Gln229Leu)
c.710A>T (p.Gln237Leu)
c.*201A>T (n.*201A>T)
c.275A>T (p.Gln92Leu)
c.692A>T (p.Gln231Leu)
c.27A>T
c.704A>T (p.Gln235Leu)
c.418A>T
n.704A>T
n.675A>T
c.839A>T (p.Gln280Leu)
c.554A>T (p.Gln185Leu)
n.67T>A
c.950A>T (p.Gln317Leu)
 dbSNP
6g.10404568T>CCA362701274TFAP2A,TFAP2A-AS2c.686A>G (p.Gln229Arg)
c.710A>G (p.Gln237Arg)
c.*201A>G (n.*201A>G)
c.275A>G (p.Gln92Arg)
c.692A>G (p.Gln231Arg)
c.27A>G
c.704A>G (p.Gln235Arg)
c.418A>G
n.704A>G
n.675A>G
c.839A>G (p.Gln280Arg)
c.554A>G (p.Gln185Arg)
n.67T>C
c.950A>G (p.Gln317Arg)
 gnomAD v4
6g.10404568T>GCA362701273TFAP2A,TFAP2A-AS2c.686A>C (p.Gln229Pro)
c.710A>C (p.Gln237Pro)
c.*201A>C (n.*201A>C)
c.275A>C (p.Gln92Pro)
c.692A>C (p.Gln231Pro)
c.27A>C
c.704A>C (p.Gln235Pro)
c.418A>C
n.704A>C
n.675A>C
c.839A>C (p.Gln280Pro)
c.554A>C (p.Gln185Pro)
n.67T>G
c.950A>C (p.Gln317Pro)
6g.10404568T=CA1609976751TFAP2A,TFAP2A-AS2c.686A= (p.Gln229=)
c.710A= (p.Gln237=)
c.*201A= (n.*201A=)
c.275A= (p.Gln92=)
c.692A= (p.Gln231=)
c.27A=
c.704A= (p.Gln235=)
c.418A=
n.704A=
n.675A=
c.839A= (p.Gln280=)
c.554A= (p.Gln185=)
n.67T=
c.950A= (p.Gln317=)
6g.10404569G>ACA362701277TFAP2A,TFAP2A-AS2c.685C>T (p.Gln229Ter)
c.709C>T (p.Gln237Ter)
c.*200C>T (n.*200C>T)
c.274C>T (p.Gln92Ter)
c.691C>T (p.Gln231Ter)
c.26C>T
c.703C>T (p.Gln235Ter)
c.417C>T
n.703C>T
n.674C>T
c.838C>T (p.Gln280Ter)
c.553C>T (p.Gln185Ter)
n.68G>A
c.949C>T (p.Gln317Ter)
6g.10404569G>CCA362701279TFAP2A,TFAP2A-AS2c.685C>G (p.Gln229Glu)
c.709C>G (p.Gln237Glu)
c.*200C>G (n.*200C>G)
c.274C>G (p.Gln92Glu)
c.691C>G (p.Gln231Glu)
c.26C>G
c.703C>G (p.Gln235Glu)
c.417C>G
n.703C>G
n.674C>G
c.838C>G (p.Gln280Glu)
c.553C>G (p.Gln185Glu)
n.68G>C
c.949C>G (p.Gln317Glu)
6g.10404569G>TCA362701281TFAP2A,TFAP2A-AS2c.685C>A (p.Gln229Lys)
c.709C>A (p.Gln237Lys)
c.*200C>A (n.*200C>A)
c.274C>A (p.Gln92Lys)
c.691C>A (p.Gln231Lys)
c.26C>A
c.703C>A (p.Gln235Lys)
c.417C>A
n.703C>A
n.674C>A
c.838C>A (p.Gln280Lys)
c.553C>A (p.Gln185Lys)
n.68G>T
c.949C>A (p.Gln317Lys)
6g.10404570C>ACA448717605TFAP2A,TFAP2A-AS2c.684G>T (p.Val228=)
c.708G>T (p.Val236=)
c.*199G>T (n.*199G>T)
c.273G>T (p.Val91=)
c.690G>T (p.Val230=)
c.25G>T
c.702G>T (p.Val234=)
c.416G>T
n.702G>T
n.673G>T
c.837G>T (p.Val279=)
c.552G>T (p.Val184=)
n.69C>A
c.948G>T (p.Val316=)
 gnomAD v4
6g.10404570C=CA1609976752TFAP2A,TFAP2A-AS2c.684G= (p.Val228=)
c.708G= (p.Val236=)
c.*199G= (n.*199G=)
c.273G= (p.Val91=)
c.690G= (p.Val230=)
c.25G=
c.702G= (p.Val234=)
c.416G=
n.702G=
n.673G=
c.837G= (p.Val279=)
c.552G= (p.Val184=)
n.69C=
c.948G= (p.Val316=)
6g.10404570C>GCA448717608TFAP2A,TFAP2A-AS2c.684G>C (p.Val228=)
c.708G>C (p.Val236=)
c.*199G>C (n.*199G>C)
c.273G>C (p.Val91=)
c.690G>C (p.Val230=)
c.25G>C
c.702G>C (p.Val234=)
c.416G>C
n.702G>C
n.673G>C
c.837G>C (p.Val279=)
c.552G>C (p.Val184=)
n.69C>G
c.948G>C (p.Val316=)
6g.10404570C>TCA448717606TFAP2A,TFAP2A-AS2c.684G>A (p.Val228=)
c.708G>A (p.Val236=)
c.*199G>A (n.*199G>A)
c.273G>A (p.Val91=)
c.690G>A (p.Val230=)
c.25G>A
c.702G>A (p.Val234=)
c.416G>A
n.702G>A
n.673G>A
c.837G>A (p.Val279=)
c.552G>A (p.Val184=)
n.69C>T
c.948G>A (p.Val316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.10404571A>CCA362701283TFAP2A,TFAP2A-AS2c.683T>G (p.Val228Gly)
c.707T>G (p.Val236Gly)
c.*198T>G (n.*198T>G)
c.272T>G (p.Val91Gly)
c.689T>G (p.Val230Gly)
c.24T>G
c.701T>G (p.Val234Gly)
c.415T>G
n.701T>G
n.672T>G
c.836T>G (p.Val279Gly)
c.551T>G (p.Val184Gly)
n.70A>C
c.947T>G (p.Val316Gly)
6g.10404571A>GCA362701285TFAP2A,TFAP2A-AS2c.683T>C (p.Val228Ala)
c.707T>C (p.Val236Ala)
c.*198T>C (n.*198T>C)
c.272T>C (p.Val91Ala)
c.689T>C (p.Val230Ala)
c.24T>C
c.701T>C (p.Val234Ala)
c.415T>C
n.701T>C
n.672T>C
c.836T>C (p.Val279Ala)
c.551T>C (p.Val184Ala)
n.70A>G
c.947T>C (p.Val316Ala)
6g.10404571A>TCA362701286TFAP2A,TFAP2A-AS2c.683T>A (p.Val228Glu)
c.707T>A (p.Val236Glu)
c.*198T>A (n.*198T>A)
c.272T>A (p.Val91Glu)
c.689T>A (p.Val230Glu)
c.24T>A
c.701T>A (p.Val234Glu)
c.415T>A
n.701T>A
n.672T>A
c.836T>A (p.Val279Glu)
c.551T>A (p.Val184Glu)
n.70A>T
c.947T>A (p.Val316Glu)
6g.10404572C>ACA362701289TFAP2A,TFAP2A-AS2c.682G>T (p.Val228Leu)
c.706G>T (p.Val236Leu)
c.*197G>T (n.*197G>T)
c.271G>T (p.Val91Leu)
c.688G>T (p.Val230Leu)
c.23G>T
c.700G>T (p.Val234Leu)
c.414G>T
n.700G>T
n.671G>T
c.835G>T (p.Val279Leu)
c.550G>T (p.Val184Leu)
n.71C>A
c.946G>T (p.Val316Leu)
6g.10404572C>GCA362701291TFAP2A,TFAP2A-AS2c.682G>C (p.Val228Leu)
c.706G>C (p.Val236Leu)
c.*197G>C (n.*197G>C)
c.271G>C (p.Val91Leu)
c.688G>C (p.Val230Leu)
c.23G>C
c.700G>C (p.Val234Leu)
c.414G>C
n.700G>C
n.671G>C
c.835G>C (p.Val279Leu)
c.550G>C (p.Val184Leu)
n.71C>G
c.946G>C (p.Val316Leu)
6g.10404572C>TCA362701292TFAP2A,TFAP2A-AS2c.682G>A (p.Val228Met)
c.706G>A (p.Val236Met)
c.*197G>A (n.*197G>A)
c.271G>A (p.Val91Met)
c.688G>A (p.Val230Met)
c.23G>A
c.700G>A (p.Val234Met)
c.414G>A
n.700G>A
n.671G>A
c.835G>A (p.Val279Met)
c.550G>A (p.Val184Met)
n.71C>T
c.946G>A (p.Val316Met)
 gnomAD v4
6g.10404573T>ACA362701294TFAP2A,TFAP2A-AS2c.681A>T (p.Glu227Asp)
c.705A>T (p.Glu235Asp)
c.*196A>T (n.*196A>T)
c.270A>T (p.Glu90Asp)
c.687A>T (p.Glu229Asp)
c.22A>T
c.699A>T (p.Glu233Asp)
c.413A>T
n.699A>T
n.670A>T
c.834A>T (p.Glu278Asp)
c.549A>T (p.Glu183Asp)
n.72T>A
c.945A>T (p.Glu315Asp)
6g.10404573T>CCA448717610TFAP2A,TFAP2A-AS2c.681A>G (p.Glu227=)
c.705A>G (p.Glu235=)
c.*196A>G (n.*196A>G)
c.270A>G (p.Glu90=)
c.687A>G (p.Glu229=)
c.22A>G
c.699A>G (p.Glu233=)
c.413A>G
n.699A>G
n.670A>G
c.834A>G (p.Glu278=)
c.549A>G (p.Glu183=)
n.72T>C
c.945A>G (p.Glu315=)
6g.10404573T>GCA362701296TFAP2A,TFAP2A-AS2c.681A>C (p.Glu227Asp)
c.705A>C (p.Glu235Asp)
c.*196A>C (n.*196A>C)
c.270A>C (p.Glu90Asp)
c.687A>C (p.Glu229Asp)
c.22A>C
c.699A>C (p.Glu233Asp)
c.413A>C
n.699A>C
n.670A>C
c.834A>C (p.Glu278Asp)
c.549A>C (p.Glu183Asp)
n.72T>G
c.945A>C (p.Glu315Asp)
6g.10404574dupCA645560346TFAP2A,TFAP2A-AS2c.681dup (p.Val228SerfsTer26)
c.705dup (p.Val236SerfsTer26)
c.*196dup (n.*196dup)
c.270dup (p.Val91SerfsTer26)
c.687dup (p.Val230SerfsTer26)
c.22dup
c.699dup (p.Val234SerfsTer26)
c.413dup
n.699dup
n.670dup
c.834dup (p.Val279SerfsTer26)
c.549dup (p.Val184SerfsTer26)
n.73dup
c.945dup (p.Val316SerfsTer26)
 COSMIC COSMIC COSMIC
6g.10404574T>ACA362701298TFAP2A,TFAP2A-AS2c.680A>T (p.Glu227Val)
c.704A>T (p.Glu235Val)
c.*195A>T (n.*195A>T)
c.269A>T (p.Glu90Val)
c.686A>T (p.Glu229Val)
c.21A>T
c.698A>T (p.Glu233Val)
c.412A>T
n.698A>T
n.669A>T
c.833A>T (p.Glu278Val)
c.548A>T (p.Glu183Val)
n.73T>A
c.944A>T (p.Glu315Val)
6g.10404574T>CCA362701300TFAP2A,TFAP2A-AS2c.680A>G (p.Glu227Gly)
c.704A>G (p.Glu235Gly)
c.*195A>G (n.*195A>G)
c.269A>G (p.Glu90Gly)
c.686A>G (p.Glu229Gly)
c.21A>G
c.698A>G (p.Glu233Gly)
c.412A>G
n.698A>G
n.669A>G
c.833A>G (p.Glu278Gly)
c.548A>G (p.Glu183Gly)
n.73T>C
c.944A>G (p.Glu315Gly)
6g.10404574T>GCA362701302TFAP2A,TFAP2A-AS2c.680A>C (p.Glu227Ala)
c.704A>C (p.Glu235Ala)
c.*195A>C (n.*195A>C)
c.269A>C (p.Glu90Ala)
c.686A>C (p.Glu229Ala)
c.21A>C
c.698A>C (p.Glu233Ala)
c.412A>C
n.698A>C
n.669A>C
c.833A>C (p.Glu278Ala)
c.548A>C (p.Glu183Ala)
n.73T>G
c.944A>C (p.Glu315Ala)
6g.10404575C>ACA362701306TFAP2A,TFAP2A-AS2c.679G>T (p.Glu227Ter)
c.703G>T (p.Glu235Ter)
c.*194G>T (n.*194G>T)
c.268G>T (p.Glu90Ter)
c.685G>T (p.Glu229Ter)
c.20G>T
c.697G>T (p.Glu233Ter)
c.411G>T
n.697G>T
n.668G>T
c.832G>T (p.Glu278Ter)
c.547G>T (p.Glu183Ter)
n.74C>A
c.943G>T (p.Glu315Ter)
6g.10404575C=CA1609976753TFAP2A,TFAP2A-AS2c.679G= (p.Glu227=)
c.703G= (p.Glu235=)
c.*194G= (n.*194G=)
c.268G= (p.Glu90=)
c.685G= (p.Glu229=)
c.20G=
c.697G= (p.Glu233=)
c.411G=
n.697G=
n.668G=
c.832G= (p.Glu278=)
c.547G= (p.Glu183=)
n.74C=
c.943G= (p.Glu315=)
6g.10404575C>GCA362701308TFAP2A,TFAP2A-AS2c.679G>C (p.Glu227Gln)
c.703G>C (p.Glu235Gln)
c.*194G>C (n.*194G>C)
c.268G>C (p.Glu90Gln)
c.685G>C (p.Glu229Gln)
c.20G>C
c.697G>C (p.Glu233Gln)
c.411G>C
n.697G>C
n.668G>C
c.832G>C (p.Glu278Gln)
c.547G>C (p.Glu183Gln)
n.74C>G
c.943G>C (p.Glu315Gln)
6g.10404575C>TCA362701304TFAP2A,TFAP2A-AS2c.679G>A (p.Glu227Lys)
c.703G>A (p.Glu235Lys)
c.*194G>A (n.*194G>A)
c.268G>A (p.Glu90Lys)
c.685G>A (p.Glu229Lys)
c.20G>A
c.697G>A (p.Glu233Lys)
c.411G>A
n.697G>A
n.668G>A
c.832G>A (p.Glu278Lys)
c.547G>A (p.Glu183Lys)
n.74C>T
c.943G>A (p.Glu315Lys)
 ClinVar dbSNP
6g.10404576C>ACA448717611TFAP2A,TFAP2A-AS2c.678G>T (p.Ala226=)
c.702G>T (p.Ala234=)
c.*193G>T (n.*193G>T)
c.267G>T (p.Ala89=)
c.684G>T (p.Ala228=)
c.19G>T
c.696G>T (p.Ala232=)
c.410G>T
n.696G>T
n.667G>T
c.831G>T (p.Ala277=)
c.546G>T (p.Ala182=)
n.75C>A
c.942G>T (p.Ala314=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404576C=CA1609976754TFAP2A,TFAP2A-AS2c.678G= (p.Ala226=)
c.702G= (p.Ala234=)
c.*193G= (n.*193G=)
c.267G= (p.Ala89=)
c.684G= (p.Ala228=)
c.19G=
c.696G= (p.Ala232=)
c.410G=
n.696G=
n.667G=
c.831G= (p.Ala277=)
c.546G= (p.Ala182=)
n.75C=
c.942G= (p.Ala314=)
6g.10404576C>GCA448717612TFAP2A,TFAP2A-AS2c.678G>C (p.Ala226=)
c.702G>C (p.Ala234=)
c.*193G>C (n.*193G>C)
c.267G>C (p.Ala89=)
c.684G>C (p.Ala228=)
c.19G>C
c.696G>C (p.Ala232=)
c.410G>C
n.696G>C
n.667G>C
c.831G>C (p.Ala277=)
c.546G>C (p.Ala182=)
n.75C>G
c.942G>C (p.Ala314=)
 gnomAD v4
6g.10404576C>TCA134049094TFAP2A,TFAP2A-AS2c.678G>A (p.Ala226=)
c.702G>A (p.Ala234=)
c.*193G>A (n.*193G>A)
c.267G>A (p.Ala89=)
c.684G>A (p.Ala228=)
c.19G>A
c.696G>A (p.Ala232=)
c.410G>A
n.696G>A
n.667G>A
c.831G>A (p.Ala277=)
c.546G>A (p.Ala182=)
n.75C>T
c.942G>A (p.Ala314=)
 ClinVar dbSNP gnomAD v4
6g.10404577G>ACA362701311TFAP2A,TFAP2A-AS2c.677C>T (p.Ala226Val)
c.701C>T (p.Ala234Val)
c.*192C>T (n.*192C>T)
c.266C>T (p.Ala89Val)
c.683C>T (p.Ala228Val)
c.18C>T
c.695C>T (p.Ala232Val)
c.409C>T
n.695C>T
n.666C>T
c.830C>T (p.Ala277Val)
c.545C>T (p.Ala182Val)
n.76G>A
c.941C>T (p.Ala314Val)
6g.10404577G>CCA362701312TFAP2A,TFAP2A-AS2c.677C>G (p.Ala226Gly)
c.701C>G (p.Ala234Gly)
c.*192C>G (n.*192C>G)
c.266C>G (p.Ala89Gly)
c.683C>G (p.Ala228Gly)
c.18C>G
c.695C>G (p.Ala232Gly)
c.409C>G
n.695C>G
n.666C>G
c.830C>G (p.Ala277Gly)
c.545C>G (p.Ala182Gly)
n.76G>C
c.941C>G (p.Ala314Gly)
 gnomAD v4
6g.10404577G>TCA362701314TFAP2A,TFAP2A-AS2c.677C>A (p.Ala226Glu)
c.701C>A (p.Ala234Glu)
c.*192C>A (n.*192C>A)
c.266C>A (p.Ala89Glu)
c.683C>A (p.Ala228Glu)
c.18C>A
c.695C>A (p.Ala232Glu)
c.409C>A
n.695C>A
n.666C>A
c.830C>A (p.Ala277Glu)
c.545C>A (p.Ala182Glu)
n.76G>T
c.941C>A (p.Ala314Glu)
 gnomAD v4
6g.10404578C>ACA362701316TFAP2A,TFAP2A-AS2c.676G>T (p.Ala226Ser)
c.700G>T (p.Ala234Ser)
c.*191G>T (n.*191G>T)
c.265G>T (p.Ala89Ser)
c.682G>T (p.Ala228Ser)
c.17G>T
c.694G>T (p.Ala232Ser)
c.408G>T
n.694G>T
n.665G>T
c.829G>T (p.Ala277Ser)
c.544G>T (p.Ala182Ser)
n.77C>A
c.940G>T (p.Ala314Ser)
6g.10404578C=CA1609976755TFAP2A,TFAP2A-AS2c.676G= (p.Ala226=)
c.700G= (p.Ala234=)
c.*191G= (n.*191G=)
c.265G= (p.Ala89=)
c.682G= (p.Ala228=)
c.17G=
c.694G= (p.Ala232=)
c.408G=
n.694G=
n.665G=
c.829G= (p.Ala277=)
c.544G= (p.Ala182=)
n.77C=
c.940G= (p.Ala314=)
6g.10404578C>GCA362701318TFAP2A,TFAP2A-AS2c.676G>C (p.Ala226Pro)
c.700G>C (p.Ala234Pro)
c.*191G>C (n.*191G>C)
c.265G>C (p.Ala89Pro)
c.682G>C (p.Ala228Pro)
c.17G>C
c.694G>C (p.Ala232Pro)
c.408G>C
n.694G>C
n.665G>C
c.829G>C (p.Ala277Pro)
c.544G>C (p.Ala182Pro)
n.77C>G
c.940G>C (p.Ala314Pro)
6g.10404578C>TCA362701320TFAP2A,TFAP2A-AS2c.676G>A (p.Ala226Thr)
c.700G>A (p.Ala234Thr)
c.*191G>A (n.*191G>A)
c.265G>A (p.Ala89Thr)
c.682G>A (p.Ala228Thr)
c.17G>A
c.694G>A (p.Ala232Thr)
c.408G>A
n.694G>A
n.665G>A
c.829G>A (p.Ala277Thr)
c.544G>A (p.Ala182Thr)
n.77C>T
c.940G>A (p.Ala314Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.10404579C>ACA448717613TFAP2A,TFAP2A-AS2c.675G>T (p.Val225=)
c.699G>T (p.Val233=)
c.*190G>T (n.*190G>T)
c.264G>T (p.Val88=)
c.681G>T (p.Val227=)
c.16G>T
c.693G>T (p.Val231=)
c.407G>T
n.693G>T
n.664G>T
c.828G>T (p.Val276=)
c.543G>T (p.Val181=)
n.78C>A
c.939G>T (p.Val313=)
6g.10404579C>GCA448717614TFAP2A,TFAP2A-AS2c.675G>C (p.Val225=)
c.699G>C (p.Val233=)
c.*190G>C (n.*190G>C)
c.264G>C (p.Val88=)
c.681G>C (p.Val227=)
c.16G>C
c.693G>C (p.Val231=)
c.407G>C
n.693G>C
n.664G>C
c.828G>C (p.Val276=)
c.543G>C (p.Val181=)
n.78C>G
c.939G>C (p.Val313=)
 gnomAD v4
6g.10404579C>TCA448717615TFAP2A,TFAP2A-AS2c.675G>A (p.Val225=)
c.699G>A (p.Val233=)
c.*190G>A (n.*190G>A)
c.264G>A (p.Val88=)
c.681G>A (p.Val227=)
c.16G>A
c.693G>A (p.Val231=)
c.407G>A
n.693G>A
n.664G>A
c.828G>A (p.Val276=)
c.543G>A (p.Val181=)
n.78C>T
c.939G>A (p.Val313=)
6g.10404580A>CCA362701322TFAP2A,TFAP2A-AS2c.674T>G (p.Val225Gly)
c.698T>G (p.Val233Gly)
c.*189T>G (n.*189T>G)
c.263T>G (p.Val88Gly)
c.680T>G (p.Val227Gly)
c.15T>G
c.692T>G (p.Val231Gly)
c.406T>G
n.692T>G
n.663T>G
c.827T>G (p.Val276Gly)
c.542T>G (p.Val181Gly)
n.79A>C
c.938T>G (p.Val313Gly)
6g.10404580A>GCA362701324TFAP2A,TFAP2A-AS2c.674T>C (p.Val225Ala)
c.698T>C (p.Val233Ala)
c.*189T>C (n.*189T>C)
c.263T>C (p.Val88Ala)
c.680T>C (p.Val227Ala)
c.15T>C
c.692T>C (p.Val231Ala)
c.406T>C
n.692T>C
n.663T>C
c.827T>C (p.Val276Ala)
c.542T>C (p.Val181Ala)
n.79A>G
c.938T>C (p.Val313Ala)
 gnomAD v4
6g.10404580A>TCA362701326TFAP2A,TFAP2A-AS2c.674T>A (p.Val225Glu)
c.698T>A (p.Val233Glu)
c.*189T>A (n.*189T>A)
c.263T>A (p.Val88Glu)
c.680T>A (p.Val227Glu)
c.15T>A
c.692T>A (p.Val231Glu)
c.406T>A
n.692T>A
n.663T>A
c.827T>A (p.Val276Glu)
c.542T>A (p.Val181Glu)
n.79A>T
c.938T>A (p.Val313Glu)
6g.10404583_10404588delCA2695205973TFAP2A,TFAP2A-AS2c.669_674del (p.Thr224_Val225del)
c.693_698del (p.Thr232_Val233del)
c.*184_*189del (n.*184_*189del)
c.258_263del (p.Thr87_Val88del)
c.675_680del (p.Thr226_Val227del)
c.10_15del
c.687_692del (p.Thr230_Val231del)
c.401_406del
n.687_692del
n.658_663del
c.822_827del (p.Thr275_Val276del)
c.537_542del (p.Thr180_Val181del)
n.82_87del
c.933_938del (p.Thr312_Val313del)
6g.10404581C>ACA362701328TFAP2A,TFAP2A-AS2c.673G>T (p.Val225Leu)
c.697G>T (p.Val233Leu)
c.*188G>T (n.*188G>T)
c.262G>T (p.Val88Leu)
c.679G>T (p.Val227Leu)
c.14G>T
c.691G>T (p.Val231Leu)
c.405G>T
n.691G>T
n.662G>T
c.826G>T (p.Val276Leu)
c.541G>T (p.Val181Leu)
n.80C>A
c.937G>T (p.Val313Leu)
6g.10404581C>GCA362701329TFAP2A,TFAP2A-AS2c.673G>C (p.Val225Leu)
c.697G>C (p.Val233Leu)
c.*188G>C (n.*188G>C)
c.262G>C (p.Val88Leu)
c.679G>C (p.Val227Leu)
c.14G>C
c.691G>C (p.Val231Leu)
c.405G>C
n.691G>C
n.662G>C
c.826G>C (p.Val276Leu)
c.541G>C (p.Val181Leu)
n.80C>G
c.937G>C (p.Val313Leu)
6g.10404581C>TCA362701330TFAP2A,TFAP2A-AS2c.673G>A (p.Val225Met)
c.697G>A (p.Val233Met)
c.*188G>A (n.*188G>A)
c.262G>A (p.Val88Met)
c.679G>A (p.Val227Met)
c.14G>A
c.691G>A (p.Val231Met)
c.405G>A
n.691G>A
n.662G>A
c.826G>A (p.Val276Met)
c.541G>A (p.Val181Met)
n.80C>T
c.937G>A (p.Val313Met)
6g.10404582C>ACA448717616TFAP2A,TFAP2A-AS2c.672G>T (p.Thr224=)
c.696G>T (p.Thr232=)
c.*187G>T (n.*187G>T)
c.261G>T (p.Thr87=)
c.678G>T (p.Thr226=)
c.13G>T
c.690G>T (p.Thr230=)
c.404G>T
n.690G>T
n.661G>T
c.825G>T (p.Thr275=)
c.540G>T (p.Thr180=)
n.81C>A
c.936G>T (p.Thr312=)
 gnomAD v4
6g.10404582C=CA1609976756TFAP2A,TFAP2A-AS2c.672G= (p.Thr224=)
c.696G= (p.Thr232=)
c.*187G= (n.*187G=)
c.261G= (p.Thr87=)
c.678G= (p.Thr226=)
c.13G=
c.690G= (p.Thr230=)
c.404G=
n.690G=
n.661G=
c.825G= (p.Thr275=)
c.540G= (p.Thr180=)
n.81C=
c.936G= (p.Thr312=)
6g.10404582C>GCA448717618TFAP2A,TFAP2A-AS2c.672G>C (p.Thr224=)
c.696G>C (p.Thr232=)
c.*187G>C (n.*187G>C)
c.261G>C (p.Thr87=)
c.678G>C (p.Thr226=)
c.13G>C
c.690G>C (p.Thr230=)
c.404G>C
n.690G>C
n.661G>C
c.825G>C (p.Thr275=)
c.540G>C (p.Thr180=)
n.81C>G
c.936G>C (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404582C>TCA448717617TFAP2A,TFAP2A-AS2c.672G>A (p.Thr224=)
c.696G>A (p.Thr232=)
c.*187G>A (n.*187G>A)
c.261G>A (p.Thr87=)
c.678G>A (p.Thr226=)
c.13G>A
c.690G>A (p.Thr230=)
c.404G>A
n.690G>A
n.661G>A
c.825G>A (p.Thr275=)
c.540G>A (p.Thr180=)
n.81C>T
c.936G>A (p.Thr312=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404583G>ACA362701336TFAP2A,TFAP2A-AS2c.671C>T (p.Thr224Met)
c.695C>T (p.Thr232Met)
c.*186C>T (n.*186C>T)
c.260C>T (p.Thr87Met)
c.677C>T (p.Thr226Met)
c.12C>T
c.689C>T (p.Thr230Met)
c.403C>T
n.689C>T
n.660C>T
c.824C>T (p.Thr275Met)
c.539C>T (p.Thr180Met)
n.82G>A
c.935C>T (p.Thr312Met)
 dbSNP
6g.10404583G>CCA362701332TFAP2A,TFAP2A-AS2c.671C>G (p.Thr224Arg)
c.695C>G (p.Thr232Arg)
c.*186C>G (n.*186C>G)
c.260C>G (p.Thr87Arg)
c.677C>G (p.Thr226Arg)
c.12C>G
c.689C>G (p.Thr230Arg)
c.403C>G
n.689C>G
n.660C>G
c.824C>G (p.Thr275Arg)
c.539C>G (p.Thr180Arg)
n.82G>C
c.935C>G (p.Thr312Arg)
6g.10404583G=CA1609976757TFAP2A,TFAP2A-AS2c.671C= (p.Thr224=)
c.695C= (p.Thr232=)
c.*186C= (n.*186C=)
c.260C= (p.Thr87=)
c.677C= (p.Thr226=)
c.12C=
c.689C= (p.Thr230=)
c.403C=
n.689C=
n.660C=
c.824C= (p.Thr275=)
c.539C= (p.Thr180=)
n.82G=
c.935C= (p.Thr312=)
6g.10404583G>TCA362701334TFAP2A,TFAP2A-AS2c.671C>A (p.Thr224Lys)
c.695C>A (p.Thr232Lys)
c.*186C>A (n.*186C>A)
c.260C>A (p.Thr87Lys)
c.677C>A (p.Thr226Lys)
c.12C>A
c.689C>A (p.Thr230Lys)
c.403C>A
n.689C>A
n.660C>A
c.824C>A (p.Thr275Lys)
c.539C>A (p.Thr180Lys)
n.82G>T
c.935C>A (p.Thr312Lys)
6g.10404584T>ACA362701338TFAP2A,TFAP2A-AS2c.670A>T (p.Thr224Ser)
c.694A>T (p.Thr232Ser)
c.*185A>T (n.*185A>T)
c.259A>T (p.Thr87Ser)
c.676A>T (p.Thr226Ser)
c.11A>T
c.688A>T (p.Thr230Ser)
c.402A>T
n.688A>T
n.659A>T
c.823A>T (p.Thr275Ser)
c.538A>T (p.Thr180Ser)
n.83T>A
c.934A>T (p.Thr312Ser)
 gnomAD v4
6g.10404584T>CCA362701340TFAP2A,TFAP2A-AS2c.670A>G (p.Thr224Ala)
c.694A>G (p.Thr232Ala)
c.*185A>G (n.*185A>G)
c.259A>G (p.Thr87Ala)
c.676A>G (p.Thr226Ala)
c.11A>G
c.688A>G (p.Thr230Ala)
c.402A>G
n.688A>G
n.659A>G
c.823A>G (p.Thr275Ala)
c.538A>G (p.Thr180Ala)
n.83T>C
c.934A>G (p.Thr312Ala)
 gnomAD v4
6g.10404584T>GCA362701342TFAP2A,TFAP2A-AS2c.670A>C (p.Thr224Pro)
c.694A>C (p.Thr232Pro)
c.*185A>C (n.*185A>C)
c.259A>C (p.Thr87Pro)
c.676A>C (p.Thr226Pro)
c.11A>C
c.688A>C (p.Thr230Pro)
c.402A>C
n.688A>C
n.659A>C
c.823A>C (p.Thr275Pro)
c.538A>C (p.Thr180Pro)
n.83T>G
c.934A>C (p.Thr312Pro)
6g.10404585G>ACA448717620TFAP2A,TFAP2A-AS2c.669C>T (p.Val223=)
c.693C>T (p.Val231=)
c.*184C>T (n.*184C>T)
c.258C>T (p.Val86=)
c.675C>T (p.Val225=)
c.10C>T
c.687C>T (p.Val229=)
c.401C>T
n.687C>T
n.658C>T
c.822C>T (p.Val274=)
c.537C>T (p.Val179=)
n.84G>A
c.933C>T (p.Val311=)
6g.10404585G>CCA3631269TFAP2A,TFAP2A-AS2c.669C>G (p.Val223=)
c.693C>G (p.Val231=)
c.*184C>G (n.*184C>G)
c.258C>G (p.Val86=)
c.675C>G (p.Val225=)
c.10C>G
c.687C>G (p.Val229=)
c.401C>G
n.687C>G
n.658C>G
c.822C>G (p.Val274=)
c.537C>G (p.Val179=)
n.84G>C
c.933C>G (p.Val311=)
 dbSNP ExAC gnomAD v4
6g.10404585G=CA1609976758TFAP2A,TFAP2A-AS2c.669C= (p.Val223=)
c.693C= (p.Val231=)
c.*184C= (n.*184C=)
c.258C= (p.Val86=)
c.675C= (p.Val225=)
c.10C=
c.687C= (p.Val229=)
c.401C=
n.687C=
n.658C=
c.822C= (p.Val274=)
c.537C= (p.Val179=)
n.84G=
c.933C= (p.Val311=)
6g.10404585G>TCA448717621TFAP2A,TFAP2A-AS2c.669C>A (p.Val223=)
c.693C>A (p.Val231=)
c.*184C>A (n.*184C>A)
c.258C>A (p.Val86=)
c.675C>A (p.Val225=)
c.10C>A
c.687C>A (p.Val229=)
c.401C>A
n.687C>A
n.658C>A
c.822C>A (p.Val274=)
c.537C>A (p.Val179=)
n.84G>T
c.933C>A (p.Val311=)
6g.10404586A>CCA362701345TFAP2A,TFAP2A-AS2c.668T>G (p.Val223Gly)
c.692T>G (p.Val231Gly)
c.*183T>G (n.*183T>G)
c.257T>G (p.Val86Gly)
c.674T>G (p.Val225Gly)
c.9T>G
c.686T>G (p.Val229Gly)
c.400T>G
n.686T>G
n.657T>G
c.821T>G (p.Val274Gly)
c.536T>G (p.Val179Gly)
n.85A>C
c.932T>G (p.Val311Gly)
6g.10404586A>GCA362701346TFAP2A,TFAP2A-AS2c.668T>C (p.Val223Ala)
c.692T>C (p.Val231Ala)
c.*183T>C (n.*183T>C)
c.257T>C (p.Val86Ala)
c.674T>C (p.Val225Ala)
c.9T>C
c.686T>C (p.Val229Ala)
c.400T>C
n.686T>C
n.657T>C
c.821T>C (p.Val274Ala)
c.536T>C (p.Val179Ala)
n.85A>G
c.932T>C (p.Val311Ala)
6g.10404586A>TCA362701348TFAP2A,TFAP2A-AS2c.668T>A (p.Val223Asp)
c.692T>A (p.Val231Asp)
c.*183T>A (n.*183T>A)
c.257T>A (p.Val86Asp)
c.674T>A (p.Val225Asp)
c.9T>A
c.686T>A (p.Val229Asp)
c.400T>A
n.686T>A
n.657T>A
c.821T>A (p.Val274Asp)
c.536T>A (p.Val179Asp)
n.85A>T
c.932T>A (p.Val311Asp)
6g.10404587C>ACA362701350TFAP2A,TFAP2A-AS2c.667G>T (p.Val223Phe)
c.691G>T (p.Val231Phe)
c.*182G>T (n.*182G>T)
c.256G>T (p.Val86Phe)
c.673G>T (p.Val225Phe)
c.8G>T
c.685G>T (p.Val229Phe)
c.399G>T
n.685G>T
n.656G>T
c.820G>T (p.Val274Phe)
c.535G>T (p.Val179Phe)
n.86C>A
c.931G>T (p.Val311Phe)
6g.10404587C=CA1609976759TFAP2A,TFAP2A-AS2c.667G= (p.Val223=)
c.691G= (p.Val231=)
c.*182G= (n.*182G=)
c.256G= (p.Val86=)
c.673G= (p.Val225=)
c.8G=
c.685G= (p.Val229=)
c.399G=
n.685G=
n.656G=
c.820G= (p.Val274=)
c.535G= (p.Val179=)
n.86C=
c.931G= (p.Val311=)
6g.10404587C>GCA362701352TFAP2A,TFAP2A-AS2c.667G>C (p.Val223Leu)
c.691G>C (p.Val231Leu)
c.*182G>C (n.*182G>C)
c.256G>C (p.Val86Leu)
c.673G>C (p.Val225Leu)
c.8G>C
c.685G>C (p.Val229Leu)
c.399G>C
n.685G>C
n.656G>C
c.820G>C (p.Val274Leu)
c.535G>C (p.Val179Leu)
n.86C>G
c.931G>C (p.Val311Leu)
6g.10404587C>TCA3631270TFAP2A,TFAP2A-AS2c.667G>A (p.Val223Ile)
c.691G>A (p.Val231Ile)
c.*182G>A (n.*182G>A)
c.256G>A (p.Val86Ile)
c.673G>A (p.Val225Ile)
c.8G>A
c.685G>A (p.Val229Ile)
c.399G>A
n.685G>A
n.656G>A
c.820G>A (p.Val274Ile)
c.535G>A (p.Val179Ile)
n.86C>T
c.931G>A (p.Val311Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.10404588C>ACA362701355TFAP2A,TFAP2A-AS2c.666G>T (p.Lys222Asn)
c.690G>T (p.Lys230Asn)
c.*181G>T (n.*181G>T)
c.255G>T (p.Lys85Asn)
c.672G>T (p.Lys224Asn)
c.7G>T
c.684G>T (p.Lys228Asn)
c.398G>T
n.684G>T
n.655G>T
c.819G>T (p.Lys273Asn)
c.534G>T (p.Lys178Asn)
n.87C>A
c.930G>T (p.Lys310Asn)
6g.10404588C=CA1609976760TFAP2A,TFAP2A-AS2c.666G= (p.Lys222=)
c.690G= (p.Lys230=)
c.*181G= (n.*181G=)
c.255G= (p.Lys85=)
c.672G= (p.Lys224=)
c.7G=
c.684G= (p.Lys228=)
c.398G=
n.684G=
n.655G=
c.819G= (p.Lys273=)
c.534G= (p.Lys178=)
n.87C=
c.930G= (p.Lys310=)
6g.10404588C>GCA362701357TFAP2A,TFAP2A-AS2c.666G>C (p.Lys222Asn)
c.690G>C (p.Lys230Asn)
c.*181G>C (n.*181G>C)
c.255G>C (p.Lys85Asn)
c.672G>C (p.Lys224Asn)
c.7G>C
c.684G>C (p.Lys228Asn)
c.398G>C
n.684G>C
n.655G>C
c.819G>C (p.Lys273Asn)
c.534G>C (p.Lys178Asn)
n.87C>G
c.930G>C (p.Lys310Asn)
 dbSNP
6g.10404588C>TCA448717622TFAP2A,TFAP2A-AS2c.666G>A (p.Lys222=)
c.690G>A (p.Lys230=)
c.*181G>A (n.*181G>A)
c.255G>A (p.Lys85=)
c.672G>A (p.Lys224=)
c.7G>A
c.684G>A (p.Lys228=)
c.398G>A
n.684G>A
n.655G>A
c.819G>A (p.Lys273=)
c.534G>A (p.Lys178=)
n.87C>T
c.930G>A (p.Lys310=)
 dbSNP gnomAD v3 gnomAD v4
6g.10404589T>ACA362701361TFAP2A,TFAP2A-AS2c.665A>T (p.Lys222Met)
c.689A>T (p.Lys230Met)
c.*180A>T (n.*180A>T)
c.254A>T (p.Lys85Met)
c.671A>T (p.Lys224Met)
c.6A>T
c.683A>T (p.Lys228Met)
c.397A>T
n.683A>T
n.654A>T
c.818A>T (p.Lys273Met)
c.533A>T (p.Lys178Met)
n.88T>A
c.929A>T (p.Lys310Met)
6g.10404589T>CCA362701362TFAP2A,TFAP2A-AS2c.665A>G (p.Lys222Arg)
c.689A>G (p.Lys230Arg)
c.*180A>G (n.*180A>G)
c.254A>G (p.Lys85Arg)
c.671A>G (p.Lys224Arg)
c.6A>G
c.683A>G (p.Lys228Arg)
c.397A>G
n.683A>G
n.654A>G
c.818A>G (p.Lys273Arg)
c.533A>G (p.Lys178Arg)
n.88T>C
c.929A>G (p.Lys310Arg)
 ClinVar gnomAD v4
6g.10404589T>GCA362701359TFAP2A,TFAP2A-AS2c.665A>C (p.Lys222Thr)
c.689A>C (p.Lys230Thr)
c.*180A>C (n.*180A>C)
c.254A>C (p.Lys85Thr)
c.671A>C (p.Lys224Thr)
c.6A>C
c.683A>C (p.Lys228Thr)
c.397A>C
n.683A>C
n.654A>C
c.818A>C (p.Lys273Thr)
c.533A>C (p.Lys178Thr)
n.88T>G
c.929A>C (p.Lys310Thr)
 gnomAD v4
6g.10404590T>ACA362701364TFAP2A,TFAP2A-AS2c.664A>T (p.Lys222Ter)
c.688A>T (p.Lys230Ter)
c.*179A>T (n.*179A>T)
c.253A>T (p.Lys85Ter)
c.670A>T (p.Lys224Ter)
c.5A>T
c.682A>T (p.Lys228Ter)
c.396A>T
n.682A>T
n.653A>T
c.817A>T (p.Lys273Ter)
c.532A>T (p.Lys178Ter)
n.89T>A
c.928A>T (p.Lys310Ter)
6g.10404590T>CCA362701368TFAP2A,TFAP2A-AS2c.664A>G (p.Lys222Glu)
c.688A>G (p.Lys230Glu)
c.*179A>G (n.*179A>G)
c.253A>G (p.Lys85Glu)
c.670A>G (p.Lys224Glu)
c.5A>G
c.682A>G (p.Lys228Glu)
c.396A>G
n.682A>G
n.653A>G
c.817A>G (p.Lys273Glu)
c.532A>G (p.Lys178Glu)
n.89T>C
c.928A>G (p.Lys310Glu)
6g.10404590T>GCA362701366TFAP2A,TFAP2A-AS2c.664A>C (p.Lys222Gln)
c.688A>C (p.Lys230Gln)
c.*179A>C (n.*179A>C)
c.253A>C (p.Lys85Gln)
c.670A>C (p.Lys224Gln)
c.5A>C
c.682A>C (p.Lys228Gln)
c.396A>C
n.682A>C
n.653A>C
c.817A>C (p.Lys273Gln)
c.532A>C (p.Lys178Gln)
n.89T>G
c.928A>C (p.Lys310Gln)
6g.10404591G>ACA448717623TFAP2A,TFAP2A-AS2c.663C>T (p.Tyr221=)
c.687C>T (p.Tyr229=)
c.*178C>T (n.*178C>T)
c.252C>T (p.Tyr84=)
c.669C>T (p.Tyr223=)
c.4C>T
c.681C>T (p.Tyr227=)
c.395C>T
n.681C>T
n.652C>T
c.816C>T (p.Tyr272=)
c.531C>T (p.Tyr177=)
n.90G>A
c.927C>T (p.Tyr309=)
6g.10404591G>CCA362701370TFAP2A,TFAP2A-AS2c.663C>G (p.Tyr221Ter)
c.687C>G (p.Tyr229Ter)
c.*178C>G (n.*178C>G)
c.252C>G (p.Tyr84Ter)
c.669C>G (p.Tyr223Ter)
c.4C>G
c.681C>G (p.Tyr227Ter)
c.395C>G
n.681C>G
n.652C>G
c.816C>G (p.Tyr272Ter)
c.531C>G (p.Tyr177Ter)
n.90G>C
c.927C>G (p.Tyr309Ter)
 ClinVar dbSNP
6g.10404591G>TCA362701372TFAP2A,TFAP2A-AS2c.663C>A (p.Tyr221Ter)
c.687C>A (p.Tyr229Ter)
c.*178C>A (n.*178C>A)
c.252C>A (p.Tyr84Ter)
c.669C>A (p.Tyr223Ter)
c.4C>A
c.681C>A (p.Tyr227Ter)
c.395C>A
n.681C>A
n.652C>A
c.816C>A (p.Tyr272Ter)
c.531C>A (p.Tyr177Ter)
n.90G>T
c.927C>A (p.Tyr309Ter)
6g.10404592T>ACA362701374TFAP2A,TFAP2A-AS2c.662A>T (p.Tyr221Phe)
c.686A>T (p.Tyr229Phe)
c.*177A>T (n.*177A>T)
c.251A>T (p.Tyr84Phe)
c.668A>T (p.Tyr223Phe)
c.3A>T
c.680A>T (p.Tyr227Phe)
c.394A>T
n.680A>T
n.651A>T
c.815A>T (p.Tyr272Phe)
c.530A>T (p.Tyr177Phe)
n.91T>A
c.926A>T (p.Tyr309Phe)
6g.10404592T>CCA362701376TFAP2A,TFAP2A-AS2c.662A>G (p.Tyr221Cys)
c.686A>G (p.Tyr229Cys)
c.*177A>G (n.*177A>G)
c.251A>G (p.Tyr84Cys)
c.668A>G (p.Tyr223Cys)
c.3A>G
c.680A>G (p.Tyr227Cys)
c.394A>G
n.680A>G
n.651A>G
c.815A>G (p.Tyr272Cys)
c.530A>G (p.Tyr177Cys)
n.91T>C
c.926A>G (p.Tyr309Cys)
6g.10404592T>GCA362701377TFAP2A,TFAP2A-AS2c.662A>C (p.Tyr221Ser)
c.686A>C (p.Tyr229Ser)
c.*177A>C (n.*177A>C)
c.251A>C (p.Tyr84Ser)
c.668A>C (p.Tyr223Ser)
c.3A>C
c.680A>C (p.Tyr227Ser)
c.394A>C
n.680A>C
n.651A>C
c.815A>C (p.Tyr272Ser)
c.530A>C (p.Tyr177Ser)
n.91T>G
c.926A>C (p.Tyr309Ser)
6g.10404593A>CCA362701379TFAP2A,TFAP2A-AS2c.661T>G (p.Tyr221Asp)
c.685T>G (p.Tyr229Asp)
c.*176T>G (n.*176T>G)
c.250T>G (p.Tyr84Asp)
c.667T>G (p.Tyr223Asp)
c.2T>G
c.679T>G (p.Tyr227Asp)
c.393T>G
n.679T>G
n.650T>G
c.814T>G (p.Tyr272Asp)
c.529T>G (p.Tyr177Asp)
n.92A>C
c.925T>G (p.Tyr309Asp)
6g.10404593A>GCA362701381TFAP2A,TFAP2A-AS2c.661T>C (p.Tyr221His)
c.685T>C (p.Tyr229His)
c.*176T>C (n.*176T>C)
c.250T>C (p.Tyr84His)
c.667T>C (p.Tyr223His)
c.2T>C
c.679T>C (p.Tyr227His)
c.393T>C
n.679T>C
n.650T>C
c.814T>C (p.Tyr272His)
c.529T>C (p.Tyr177His)
n.92A>G
c.925T>C (p.Tyr309His)
6g.10404593A>TCA362701383TFAP2A,TFAP2A-AS2c.661T>A (p.Tyr221Asn)
c.685T>A (p.Tyr229Asn)
c.*176T>A (n.*176T>A)
c.250T>A (p.Tyr84Asn)
c.667T>A (p.Tyr223Asn)
c.2T>A
c.679T>A (p.Tyr227Asn)
c.393T>A
n.679T>A
n.650T>A
c.814T>A (p.Tyr272Asn)
c.529T>A (p.Tyr177Asn)
n.92A>T
c.925T>A (p.Tyr309Asn)
6g.10404594C>ACA362701385TFAP2A,TFAP2A-AS2c.660G>T (p.Lys220Asn)
c.684G>T (p.Lys228Asn)
c.*175G>T (n.*175G>T)
c.249G>T (p.Lys83Asn)
c.666G>T (p.Lys222Asn)
c.1G>T
c.678G>T (p.Lys226Asn)
c.392G>T
n.678G>T
n.649G>T
c.813G>T (p.Lys271Asn)
c.528G>T (p.Lys176Asn)
n.93C>A
c.924G>T (p.Lys308Asn)
6g.10404594C=CA1609976761TFAP2A,TFAP2A-AS2c.660G= (p.Lys220=)
c.684G= (p.Lys228=)
c.*175G= (n.*175G=)
c.249G= (p.Lys83=)
c.666G= (p.Lys222=)
c.1G=
c.678G= (p.Lys226=)
c.392G=
n.678G=
n.649G=
c.813G= (p.Lys271=)
c.528G= (p.Lys176=)
n.93C=
c.924G= (p.Lys308=)
6g.10404594C>GCA362701387TFAP2A,TFAP2A-AS2c.660G>C (p.Lys220Asn)
c.684G>C (p.Lys228Asn)
c.*175G>C (n.*175G>C)
c.249G>C (p.Lys83Asn)
c.666G>C (p.Lys222Asn)
c.1G>C
c.678G>C (p.Lys226Asn)
c.392G>C
n.678G>C
n.649G>C
c.813G>C (p.Lys271Asn)
c.528G>C (p.Lys176Asn)
n.93C>G
c.924G>C (p.Lys308Asn)
6g.10404594C>TCA134049110TFAP2A,TFAP2A-AS2c.660G>A (p.Lys220=)
c.684G>A (p.Lys228=)
c.*175G>A (n.*175G>A)
c.249G>A (p.Lys83=)
c.666G>A (p.Lys222=)
c.1G>A
c.678G>A (p.Lys226=)
c.392G>A
n.678G>A
n.649G>A
c.813G>A (p.Lys271=)
c.528G>A (p.Lys176=)
n.93C>T
c.924G>A (p.Lys308=)
 dbSNP gnomAD v2 gnomAD v4
6g.10404595T>ACA362701389TFAP2A,TFAP2A-AS2c.659A>T (p.Lys220Met)
c.683A>T (p.Lys228Met)
c.*174A>T (n.*174A>T)
c.248A>T (p.Lys83Met)
c.665A>T (p.Lys222Met)
c.677A>T (p.Lys226Met)
c.391A>T
n.677A>T
n.648A>T
c.812A>T (p.Lys271Met)
c.527A>T (p.Lys176Met)
n.94T>A
c.923A>T (p.Lys308Met)
6g.10404595T>CCA362701391TFAP2A,TFAP2A-AS2c.659A>G (p.Lys220Arg)
c.683A>G (p.Lys228Arg)
c.*174A>G (n.*174A>G)
c.248A>G (p.Lys83Arg)
c.665A>G (p.Lys222Arg)
c.677A>G (p.Lys226Arg)
c.391A>G
n.677A>G
n.648A>G
c.812A>G (p.Lys271Arg)
c.527A>G (p.Lys176Arg)
n.94T>C
c.923A>G (p.Lys308Arg)
6g.10404595T>GCA362701392TFAP2A,TFAP2A-AS2c.659A>C (p.Lys220Thr)
c.683A>C (p.Lys228Thr)
c.*174A>C (n.*174A>C)
c.248A>C (p.Lys83Thr)
c.665A>C (p.Lys222Thr)
c.677A>C (p.Lys226Thr)
c.391A>C
n.677A>C
n.648A>C
c.812A>C (p.Lys271Thr)
c.527A>C (p.Lys176Thr)
n.94T>G
c.923A>C (p.Lys308Thr)
6g.10404596T>ACA362701394TFAP2A,TFAP2A-AS2c.658A>T (p.Lys220Ter)
c.682A>T (p.Lys228Ter)
c.*173A>T (n.*173A>T)
c.247A>T (p.Lys83Ter)
c.664A>T (p.Lys222Ter)
c.676A>T (p.Lys226Ter)
c.390A>T
n.676A>T
n.647A>T
c.811A>T (p.Lys271Ter)
c.526A>T (p.Lys176Ter)
n.95T>A
c.922A>T (p.Lys308Ter)
6g.10404596T>CCA362701398TFAP2A,TFAP2A-AS2c.658A>G (p.Lys220Glu)
c.682A>G (p.Lys228Glu)
c.*173A>G (n.*173A>G)
c.247A>G (p.Lys83Glu)
c.664A>G (p.Lys222Glu)
c.676A>G (p.Lys226Glu)
c.390A>G
n.676A>G
n.647A>G
c.811A>G (p.Lys271Glu)
c.526A>G (p.Lys176Glu)
n.95T>C
c.922A>G (p.Lys308Glu)
6g.10404596T>GCA362701396TFAP2A,TFAP2A-AS2c.658A>C (p.Lys220Gln)
c.682A>C (p.Lys228Gln)
c.*173A>C (n.*173A>C)
c.247A>C (p.Lys83Gln)
c.664A>C (p.Lys222Gln)
c.676A>C (p.Lys226Gln)
c.390A>C
n.676A>C
n.647A>C
c.811A>C (p.Lys271Gln)
c.526A>C (p.Lys176Gln)
n.95T>G
c.922A>C (p.Lys308Gln)
6g.10404597C>ACA448717626TFAP2A,TFAP2A-AS2c.657G>T (p.Ser219=)
c.681G>T (p.Ser227=)
c.*172G>T (n.*172G>T)
c.246G>T (p.Ser82=)
c.663G>T (p.Ser221=)
c.675G>T (p.Ser225=)
c.389G>T
n.675G>T
n.646G>T
c.810G>T (p.Ser270=)
c.525G>T (p.Ser175=)
n.96C>A
c.921G>T (p.Ser307=)
6g.10404597C=CA1609976762TFAP2A,TFAP2A-AS2c.657G= (p.Ser219=)
c.681G= (p.Ser227=)
c.*172G= (n.*172G=)
c.246G= (p.Ser82=)
c.663G= (p.Ser221=)
c.675G= (p.Ser225=)
c.389G=
n.675G=
n.646G=
c.810G= (p.Ser270=)
c.525G= (p.Ser175=)
n.96C=
c.921G= (p.Ser307=)
6g.10404597C>GCA448717628TFAP2A,TFAP2A-AS2c.657G>C (p.Ser219=)
c.681G>C (p.Ser227=)
c.*172G>C (n.*172G>C)
c.246G>C (p.Ser82=)
c.663G>C (p.Ser221=)
c.675G>C (p.Ser225=)
c.389G>C
n.675G>C
n.646G>C
c.810G>C (p.Ser270=)
c.525G>C (p.Ser175=)
n.96C>G
c.921G>C (p.Ser307=)
6g.10404597C>TCA3631271TFAP2A,TFAP2A-AS2c.657G>A (p.Ser219=)
c.681G>A (p.Ser227=)
c.*172G>A (n.*172G>A)
c.246G>A (p.Ser82=)
c.663G>A (p.Ser221=)
c.675G>A (p.Ser225=)
c.389G>A
n.675G>A
n.646G>A
c.810G>A (p.Ser270=)
c.525G>A (p.Ser175=)
n.96C>T
c.921G>A (p.Ser307=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched