Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.57565475_57565478dup | CA2653461896 | PCK1 | c.1540_1543dup (p.Asn515SerfsTer?) n.4182_4185dup c.1144_1147dup (p.Asn383SerfsTer?) | gnomAD v4 |
20 | g.57565477C>A | CA511311012 | PCK1 | c.1542C>A (p.Val514=) n.4184C>A c.1146C>A (p.Val382=) | |
20 | g.57565477C>G | CA511311013 | PCK1 | c.1542C>G (p.Val514=) n.4184C>G c.1146C>G (p.Val382=) | |
20 | g.57565477C>T | CA511311014 | PCK1 | c.1542C>T (p.Val514=) n.4184C>T c.1146C>T (p.Val382=) | |
20 | g.57565478A= | CA2371897589 | PCK1 | c.1543A= (p.Asn515=) n.4185A= c.1147A= (p.Asn383=) | |
20 | g.57565478A>C | CA409437398 | PCK1 | c.1543A>C (p.Asn515His) n.4185A>C c.1147A>C (p.Asn383His) | gnomAD v4 |
20 | g.57565478A>G | CA409437399 | PCK1 | c.1543A>G (p.Asn515Asp) n.4185A>G c.1147A>G (p.Asn383Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57565478A>T | CA409437400 | PCK1 | c.1543A>T (p.Asn515Tyr) n.4185A>T c.1147A>T (p.Asn383Tyr) | |
20 | g.57565479A= | CA2371897590 | PCK1 | c.1544A= (p.Asn515=) n.4186A= c.1148A= (p.Asn383=) | |
20 | g.57565479A>C | CA9922419 | PCK1 | c.1544A>C (p.Asn515Thr) n.4186A>C c.1148A>C (p.Asn383Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.57565479A>G | CA409437401 | PCK1 | c.1544A>G (p.Asn515Ser) n.4186A>G c.1148A>G (p.Asn383Ser) | |
20 | g.57565479A>T | CA409437402 | PCK1 | c.1544A>T (p.Asn515Ile) n.4186A>T c.1148A>T (p.Asn383Ile) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.57565480C>A | CA409437403 | PCK1 | c.1545C>A (p.Asn515Lys) n.4187C>A c.1149C>A (p.Asn383Lys) | |
20 | g.57565480C>G | CA409437404 | PCK1 | c.1545C>G (p.Asn515Lys) n.4187C>G c.1149C>G (p.Asn383Lys) | |
20 | g.57565480C>T | CA511311015 | PCK1 | c.1545C>T (p.Asn515=) n.4187C>T c.1149C>T (p.Asn383=) | |
20 | g.57565481T>A | CA409437405 | PCK1 | c.1546T>A (p.Trp516Arg) n.4188T>A c.1150T>A (p.Trp384Arg) | gnomAD v4 |
20 | g.57565481T>C | CA409437406 | PCK1 | c.1546T>C (p.Trp516Arg) n.4188T>C c.1150T>C (p.Trp384Arg) | |
20 | g.57565481T>G | CA409437407 | PCK1 | c.1546T>G (p.Trp516Gly) n.4188T>G c.1150T>G (p.Trp384Gly) | |
20 | g.57565482G>A | CA409437409 | PCK1 | c.1547G>A (p.Trp516Ter) n.4189G>A c.1151G>A (p.Trp384Ter) | dbSNP |
20 | g.57565482G>C | CA409437410 | PCK1 | c.1547G>C (p.Trp516Ser) n.4189G>C c.1151G>C (p.Trp384Ser) | |
20 | g.57565482G= | CA2371897591 | PCK1 | c.1547G= (p.Trp516=) n.4189G= c.1151G= (p.Trp384=) | |
20 | g.57565482G>T | CA409437408 | PCK1 | c.1547G>T (p.Trp516Leu) n.4189G>T c.1151G>T (p.Trp384Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.57565483G>A | CA409437411 | PCK1 | c.1548G>A (p.Trp516Ter) n.4190G>A c.1152G>A (p.Trp384Ter) | dbSNP |
20 | g.57565483G>C | CA409437412 | PCK1 | c.1548G>C (p.Trp516Cys) n.4190G>C c.1152G>C (p.Trp384Cys) | gnomAD v4 |
20 | g.57565483G>T | CA409437413 | PCK1 | c.1548G>T (p.Trp516Cys) n.4190G>T c.1152G>T (p.Trp384Cys) | |
20 | g.57565484T>A | CA409437414 | PCK1 | c.1549T>A (p.Phe517Ile) n.4191T>A c.1153T>A (p.Phe385Ile) | |
20 | g.57565484T>C | CA409437415 | PCK1 | c.1549T>C (p.Phe517Leu) n.4191T>C c.1153T>C (p.Phe385Leu) | |
20 | g.57565484T>G | CA409437416 | PCK1 | c.1549T>G (p.Phe517Val) n.4191T>G c.1153T>G (p.Phe385Val) | |
20 | g.57565485T>A | CA409437417 | PCK1 | c.1550T>A (p.Phe517Tyr) n.4192T>A c.1154T>A (p.Phe385Tyr) | dbSNP |
20 | g.57565485T>C | CA409437418 | PCK1 | c.1550T>C (p.Phe517Ser) n.4192T>C c.1154T>C (p.Phe385Ser) | |
20 | g.57565485T>G | CA409437419 | PCK1 | c.1550T>G (p.Phe517Cys) n.4192T>G c.1154T>G (p.Phe385Cys) | |
20 | g.57565486C>A | CA409437420 | PCK1 | c.1551C>A (p.Phe517Leu) n.4193C>A c.1155C>A (p.Phe385Leu) | |
20 | g.57565486C>G | CA409437421 | PCK1 | c.1551C>G (p.Phe517Leu) n.4193C>G c.1155C>G (p.Phe385Leu) | dbSNP |
20 | g.57565486C>T | CA511311016 | PCK1 | c.1551C>T (p.Phe517=) n.4193C>T c.1155C>T (p.Phe385=) | dbSNP |
20 | g.57565487C>A | CA511311017 | PCK1 | c.1552C>A (p.Arg518=) n.4194C>A c.1156C>A (p.Arg386=) | |
20 | g.57565487C= | CA2371897592 | PCK1 | c.1552C= (p.Arg518=) n.4194C= c.1156C= (p.Arg386=) | |
20 | g.57565487C>G | CA409437422 | PCK1 | c.1552C>G (p.Arg518Gly) n.4194C>G c.1156C>G (p.Arg386Gly) | dbSNP |
20 | g.57565487C>T | CA9922420 | PCK1 | c.1552C>T (p.Arg518Trp) n.4194C>T c.1156C>T (p.Arg386Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565488G>A | CA9922421 | PCK1 | c.1553G>A (p.Arg518Gln) n.4195G>A c.1157G>A (p.Arg386Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.57565488G>C | CA409437424 | PCK1 | c.1553G>C (p.Arg518Pro) n.4195G>C c.1157G>C (p.Arg386Pro) | |
20 | g.57565488G= | CA2371897593 | PCK1 | c.1553G= (p.Arg518=) n.4195G= c.1157G= (p.Arg386=) | |
20 | g.57565488G>T | CA409437423 | PCK1 | c.1553G>T (p.Arg518Leu) n.4195G>T c.1157G>T (p.Arg386Leu) | |
20 | g.57565489G>A | CA511311020 | PCK1 | c.1554G>A (p.Arg518=) n.4196G>A c.1158G>A (p.Arg386=) | |
20 | g.57565489G>C | CA511311019 | PCK1 | c.1554G>C (p.Arg518=) n.4196G>C c.1158G>C (p.Arg386=) | dbSNP |
20 | g.57565489G>T | CA511311018 | PCK1 | c.1554G>T (p.Arg518=) n.4196G>T c.1158G>T (p.Arg386=) | COSMIC |
20 | g.57565490A>C | CA409437425 | PCK1 | c.1555A>C (p.Lys519Gln) n.4197A>C c.1159A>C (p.Lys387Gln) | |
20 | g.57565490A>G | CA409437426 | PCK1 | c.1555A>G (p.Lys519Glu) n.4197A>G c.1159A>G (p.Lys387Glu) | |
20 | g.57565490A>T | CA409437427 | PCK1 | c.1555A>T (p.Lys519Ter) n.4197A>T c.1159A>T (p.Lys387Ter) | |
20 | g.57565491A>C | CA409437428 | PCK1 | c.1556A>C (p.Lys519Thr) n.4198A>C c.1160A>C (p.Lys387Thr) | |
20 | g.57565491A>G | CA409437429 | PCK1 | c.1556A>G (p.Lys519Arg) n.4198A>G c.1160A>G (p.Lys387Arg) |