Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17394041C>A | CA338257986 | PADI6 | c.1141C>A (p.Gln381Lys) | |
1 | g.17394041C= | CA1156220382 | PADI6 | c.1141C= (p.Gln381=) | |
1 | g.17394041C>G | CA338257990 | PADI6 | c.1141C>G (p.Gln381Glu) | dbSNP |
1 | g.17394041C>T | CA16042251 | PADI6 | c.1141C>T (p.Gln381Ter) | ClinVar dbSNP |
1 | g.17394042A= | CA1156220392 | PADI6 | c.1142A= (p.Gln381=) | |
1 | g.17394042A>C | CA338257995 | PADI6 | c.1142A>C (p.Gln381Pro) | |
1 | g.17394042A>G | CA641646 | PADI6 | c.1142A>G (p.Gln381Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.17394042A>T | CA338257999 | PADI6 | c.1142A>T (p.Gln381Leu) | |
1 | g.17394044_17394073dup | CA521046332 | PADI6 | c.1144_1173dup (p.Lys391_Tyr392insAlaAlaAspLeuAspGluPheProMetLys) | dbSNP gnomAD v2 |
1 | g.17394043G>A | CA416402400 | PADI6 | c.1143G>A (p.Gln381=) | |
1 | g.17394043G>C | CA338258010 | PADI6 | c.1143G>C (p.Gln381His) | |
1 | g.17394043G>T | CA338258013 | PADI6 | c.1143G>T (p.Gln381His) | |
1 | g.17394044G>A | CA338258018 | PADI6 | c.1144G>A (p.Ala382Thr) | |
1 | g.17394044G>C | CA338258019 | PADI6 | c.1144G>C (p.Ala382Pro) | dbSNP |
1 | g.17394044G= | CA1156220396 | PADI6 | c.1144G= (p.Ala382=) | |
1 | g.17394044G>T | CA338258023 | PADI6 | c.1144G>T (p.Ala382Ser) | COSMIC |
1 | g.17394045C>A | CA338258028 | PADI6 | c.1145C>A (p.Ala382Asp) | |
1 | g.17394045C>G | CA338258041 | PADI6 | c.1145C>G (p.Ala382Gly) | |
1 | g.17394045C>T | CA338258040 | PADI6 | c.1145C>T (p.Ala382Val) | |
1 | g.17394046C>A | CA416402413 | PADI6 | c.1146C>A (p.Ala382=) | |
1 | g.17394046C= | CA1141246962 | PADI6 | c.1146C= (p.Ala382=) | |
1 | g.17394046C>G | CA416402414 | PADI6 | c.1146C>G (p.Ala382=) | gnomAD v3 gnomAD v4 |
1 | g.17394046C>T | CA641647 | PADI6 | c.1146C>T (p.Ala382=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17394047G>A | CA641648 | PADI6 | c.1147G>A (p.Ala383Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17394047G>C | CA338258052 | PADI6 | c.1147G>C (p.Ala383Pro) | |
1 | g.17394047G= | CA1156220401 | PADI6 | c.1147G= (p.Ala383=) | |
1 | g.17394047G>T | CA338258055 | PADI6 | c.1147G>T (p.Ala383Ser) | |
1 | g.17394048C>A | CA338258058 | PADI6 | c.1148C>A (p.Ala383Asp) | |
1 | g.17394048C>G | CA338258060 | PADI6 | c.1148C>G (p.Ala383Gly) | |
1 | g.17394048C>T | CA338258065 | PADI6 | c.1148C>T (p.Ala383Val) | gnomAD v4 |
1 | g.17394049C>A | CA641650 | PADI6 | c.1149C>A (p.Ala383=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17394049C= | CA1140335698 | PADI6 | c.1149C= (p.Ala383=) | |
1 | g.17394049C>G | CA416402420 | PADI6 | c.1149C>G (p.Ala383=) | |
1 | g.17394049C>T | CA641649 | PADI6 | c.1149C>T (p.Ala383=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17394050G>A | CA641651 | PADI6 | c.1150G>A (p.Asp384Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17394050G>C | CA338258073 | PADI6 | c.1150G>C (p.Asp384His) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.17394050G= | CA1146748562 | PADI6 | c.1150G= (p.Asp384=) | |
1 | g.17394050G>T | CA641652 | PADI6 | c.1150G>T (p.Asp384Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.17394051A>C | CA338258081 | PADI6 | c.1151A>C (p.Asp384Ala) | |
1 | g.17394051A>G | CA338258079 | PADI6 | c.1151A>G (p.Asp384Gly) | |
1 | g.17394051A>T | CA338258078 | PADI6 | c.1151A>T (p.Asp384Val) | |
1 | g.17394052T>A | CA338258083 | PADI6 | c.1152T>A (p.Asp384Glu) | |
1 | g.17394052T>C | CA416402431 | PADI6 | c.1152T>C (p.Asp384=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.17394052T>G | CA338258086 | PADI6 | c.1152T>G (p.Asp384Glu) | |
1 | g.17394052T= | CA1156220414 | PADI6 | c.1152T= (p.Asp384=) | |
1 | g.17394053C>A | CA338258087 | PADI6 | c.1153C>A (p.Leu385Ile) | |
1 | g.17394053C= | CA1156220419 | PADI6 | c.1153C= (p.Leu385=) | |
1 | g.17394053C>G | CA338258088 | PADI6 | c.1153C>G (p.Leu385Val) | |
1 | g.17394053C>T | CA338258089 | PADI6 | c.1153C>T (p.Leu385Phe) | dbSNP |
1 | g.17394054T>A | CA338258090 | PADI6 | c.1154T>A (p.Leu385His) | gnomAD v4 |