| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130489423A= | CA1881276656 | ASS1 | c.929A= (p.Lys310=) n.200A= n.438A= c.1043A= (p.Lys348=) c.1025A= (p.Lys342=) | |
| 9 | g.130489423A>C | CA375230688 | ASS1 | c.929A>C (p.Lys310Thr) n.200A>C n.438A>C c.1043A>C (p.Lys348Thr) c.1025A>C (p.Lys342Thr) | |
| 9 | g.130489423A>G | CA5283575 | ASS1 | c.929A>G (p.Lys310Arg) n.200A>G n.438A>G c.1043A>G (p.Lys348Arg) c.1025A>G (p.Lys342Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130489423A>T | CA375230685 | ASS1 | c.929A>T (p.Lys310Ile) n.200A>T n.438A>T c.1043A>T (p.Lys348Ile) c.1025A>T (p.Lys342Ile) | |
| 9 | g.130489424A= | CA1881276657 | ASS1 | c.930A= (p.Lys310=) n.201A= n.439A= c.1044A= (p.Lys348=) c.1026A= (p.Lys342=) | |
| 9 | g.130489424A>C | CA375230693 | ASS1 | c.930A>C (p.Lys310Asn) n.201A>C n.439A>C c.1044A>C (p.Lys348Asn) c.1026A>C (p.Lys342Asn) | |
| 9 | g.130489424A>G | CA5283576 | ASS1 | c.930A>G (p.Lys310=) n.201A>G n.439A>G c.1044A>G (p.Lys348=) c.1026A>G (p.Lys342=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130489424A>T | CA375230691 | ASS1 | c.930A>T (p.Lys310Asn) n.201A>T n.439A>T c.1044A>T (p.Lys348Asn) c.1026A>T (p.Lys342Asn) | |
| 9 | g.130489425C>A | CA375230695 | ASS1 | c.931C>A (p.Gln311Lys) n.202C>A n.440C>A c.1045C>A (p.Gln349Lys) c.1027C>A (p.Gln343Lys) | |
| 9 | g.130489425C= | CA1881276658 | ASS1 | c.931C= (p.Gln311=) n.202C= n.440C= c.1045C= (p.Gln349=) c.1027C= (p.Gln343=) | |
| 9 | g.130489425C>G | CA375230697 | ASS1 | c.931C>G (p.Gln311Glu) n.202C>G n.440C>G c.1045C>G (p.Gln349Glu) c.1027C>G (p.Gln343Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130489425C>T | CA375230699 | ASS1 | c.931C>T (p.Gln311Ter) n.202C>T n.440C>T c.1045C>T (p.Gln349Ter) c.1027C>T (p.Gln343Ter) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130489426A= | CA1881276659 | ASS1 | c.932A= (p.Gln311=) n.203A= n.441A= c.1046A= (p.Gln349=) c.1028A= (p.Gln343=) | |
| 9 | g.130489426A>C | CA375230701 | ASS1 | c.932A>C (p.Gln311Pro) n.203A>C n.441A>C c.1046A>C (p.Gln349Pro) c.1028A>C (p.Gln343Pro) | |
| 9 | g.130489426A>G | CA200589214 | ASS1 | c.932A>G (p.Gln311Arg) n.203A>G n.441A>G c.1046A>G (p.Gln349Arg) c.1028A>G (p.Gln343Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.130489426A>T | CA375230704 | ASS1 | c.932A>T (p.Gln311Leu) n.203A>T n.441A>T c.1046A>T (p.Gln349Leu) c.1028A>T (p.Gln343Leu) | |
| 9 | g.130489427A>C | CA375230706 | ASS1 | c.933A>C (p.Gln311His) n.204A>C n.442A>C c.1047A>C (p.Gln349His) c.1029A>C (p.Gln343His) | |
| 9 | g.130489427A>G | CA467385707 | ASS1 | c.933A>G (p.Gln311=) n.204A>G n.442A>G c.1047A>G (p.Gln349=) c.1029A>G (p.Gln343=) | |
| 9 | g.130489427A>T | CA375230708 | ASS1 | c.933A>T (p.Gln311His) n.204A>T n.442A>T c.1047A>T (p.Gln349His) c.1029A>T (p.Gln343His) | |
| 9 | g.130489428G>A | CA375230710 | ASS1 | c.934G>A (p.Gly312Ser) n.205G>A n.443G>A c.1048G>A (p.Gly350Ser) c.1030G>A (p.Gly344Ser) | gnomAD v4 |
| 9 | g.130489428G>C | CA375230712 | ASS1 | c.934G>C (p.Gly312Arg) n.205G>C n.443G>C c.1048G>C (p.Gly350Arg) c.1030G>C (p.Gly344Arg) | |
| 9 | g.130489428G>T | CA375230714 | ASS1 | c.934G>T (p.Gly312Cys) n.205G>T n.443G>T c.1048G>T (p.Gly350Cys) c.1030G>T (p.Gly344Cys) | |
| 9 | g.130489429G>A | CA375230719 | ASS1 | c.935G>A (p.Gly312Asp) n.206G>A n.444G>A c.1049G>A (p.Gly350Asp) c.1031G>A (p.Gly344Asp) | gnomAD v4 |
| 9 | g.130489429G>C | CA375230717 | ASS1 | c.935G>C (p.Gly312Ala) n.206G>C n.444G>C c.1049G>C (p.Gly350Ala) c.1031G>C (p.Gly344Ala) | gnomAD v3 gnomAD v4 |
| 9 | g.130489429G= | CA1881276660 | ASS1 | c.935G= (p.Gly312=) n.206G= n.444G= c.1049G= (p.Gly350=) c.1031G= (p.Gly344=) | |
| 9 | g.130489429G>T | CA5283577 | ASS1 | c.935G>T (p.Gly312Val) n.206G>T n.444G>T c.1049G>T (p.Gly350Val) c.1031G>T (p.Gly344Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130489430C>A | CA467385709 | ASS1 | c.936C>A (p.Gly312=) n.207C>A c.1050C>A (p.Gly350=) c.1032C>A (p.Gly344=) | |
| 9 | g.130489430C>G | CA467385710 | ASS1 | c.936C>G (p.Gly312=) n.207C>G c.1050C>G (p.Gly350=) c.1032C>G (p.Gly344=) | |
| 9 | g.130489430C>T | CA467385711 | ASS1 | c.936C>T (p.Gly312=) n.207C>T c.1050C>T (p.Gly350=) c.1032C>T (p.Gly344=) | |
| 9 | g.130489431C>A | CA375230721 | ASS1 | c.937C>A (p.Leu313Met) n.208C>A c.1051C>A (p.Leu351Met) c.1033C>A (p.Leu345Met) | |
| 9 | g.130489431C>G | CA375230723 | ASS1 | c.937C>G (p.Leu313Val) n.208C>G c.1051C>G (p.Leu351Val) c.1033C>G (p.Leu345Val) | |
| 9 | g.130489431C>T | CA467385712 | ASS1 | c.937C>T (p.Leu313=) n.208C>T c.1051C>T (p.Leu351=) c.1033C>T (p.Leu345=) | |
| 9 | g.130489432T>A | CA375230725 | ASS1 | c.938T>A (p.Leu313Gln) n.209T>A c.1052T>A (p.Leu351Gln) c.1034T>A (p.Leu345Gln) | |
| 9 | g.130489432T>C | CA375230727 | ASS1 | c.938T>C (p.Leu313Pro) n.209T>C c.1052T>C (p.Leu351Pro) c.1034T>C (p.Leu345Pro) | |
| 9 | g.130489432T>G | CA375230729 | ASS1 | c.938T>G (p.Leu313Arg) n.209T>G c.1052T>G (p.Leu351Arg) c.1034T>G (p.Leu345Arg) | |
| 9 | g.130489433G>A | CA467385714 | ASS1 | c.939G>A (p.Leu313=) n.210G>A c.1053G>A (p.Leu351=) c.1035G>A (p.Leu345=) | gnomAD v4 |
| 9 | g.130489433G>C | CA467385715 | ASS1 | c.939G>C (p.Leu313=) n.210G>C c.1053G>C (p.Leu351=) c.1035G>C (p.Leu345=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130489433G>T | CA467385716 | ASS1 | c.939G>T (p.Leu313=) n.210G>T c.1053G>T (p.Leu351=) c.1035G>T (p.Leu345=) | |
| 9 | g.130489434G>A | CA375230731 | ASS1 | c.940G>A (p.Gly314Ser) n.211G>A c.1054G>A (p.Gly352Ser) c.1036G>A (p.Gly346Ser) | |
| 9 | g.130489434G>C | CA375230733 | ASS1 | c.940G>C (p.Gly314Arg) n.211G>C c.1054G>C (p.Gly352Arg) c.1036G>C (p.Gly346Arg) | |
| 9 | g.130489434G>T | CA375230734 | ASS1 | c.940G>T (p.Gly314Cys) n.211G>T c.1054G>T (p.Gly352Cys) c.1036G>T (p.Gly346Cys) | |
| 9 | g.130489435G>A | CA375230737 | ASS1 | c.941G>A (p.Gly314Asp) n.212G>A c.1055G>A (p.Gly352Asp) c.1037G>A (p.Gly346Asp) | COSMIC |
| 9 | g.130489435G>C | CA375230739 | ASS1 | c.941G>C (p.Gly314Ala) n.212G>C c.1055G>C (p.Gly352Ala) c.1037G>C (p.Gly346Ala) | gnomAD v4 |
| 9 | g.130489435G>T | CA375230741 | ASS1 | c.941G>T (p.Gly314Val) n.212G>T c.1055G>T (p.Gly352Val) c.1037G>T (p.Gly346Val) | |
| 9 | g.130489436C>A | CA467385719 | ASS1 | c.942C>A (p.Gly314=) n.213C>A c.1056C>A (p.Gly352=) c.1038C>A (p.Gly346=) | |
| 9 | g.130489436C= | CA1881276661 | ASS1 | c.942C= (p.Gly314=) n.213C= c.1056C= (p.Gly352=) c.1038C= (p.Gly346=) | |
| 9 | g.130489436C>G | CA467385720 | ASS1 | c.942C>G (p.Gly314=) n.213C>G c.1056C>G (p.Gly352=) c.1038C>G (p.Gly346=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130489436C>T | CA467385721 | ASS1 | c.942C>T (p.Gly314=) n.213C>T c.1056C>T (p.Gly352=) c.1038C>T (p.Gly346=) | |
| 9 | g.130489437T>A | CA375230743 | ASS1 | c.943T>A (p.Leu315Met) n.214T>A c.1057T>A (p.Leu353Met) c.1039T>A (p.Leu347Met) | dbSNP |
| 9 | g.130489437T>C | CA5283578 | ASS1 | c.943T>C (p.Leu315=) n.214T>C c.1057T>C (p.Leu353=) c.1039T>C (p.Leu347=) | dbSNP ExAC gnomAD v2 gnomAD v4 |