| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770061A>C | CA386302464 | GNPTAB | c.1244T>G (p.Val415Gly) c.1163T>G (p.Val388Gly) c.1028T>G (p.Val343Gly) c.17T>G (p.Val6Gly) | |
| 12 | g.101770061A>G | CA386302465 | GNPTAB | c.1244T>C (p.Val415Ala) c.1163T>C (p.Val388Ala) c.1028T>C (p.Val343Ala) c.17T>C (p.Val6Ala) | gnomAD v4 |
| 12 | g.101770061A>T | CA386302466 | GNPTAB | c.1244T>A (p.Val415Asp) c.1163T>A (p.Val388Asp) c.1028T>A (p.Val343Asp) c.17T>A (p.Val6Asp) | |
| 12 | g.101770062C>A | CA386302469 | GNPTAB | c.1243G>T (p.Val415Phe) c.1162G>T (p.Val388Phe) c.1027G>T (p.Val343Phe) c.16G>T (p.Val6Phe) | |
| 12 | g.101770062C>G | CA386302470 | GNPTAB | c.1243G>C (p.Val415Leu) c.1162G>C (p.Val388Leu) c.1027G>C (p.Val343Leu) c.16G>C (p.Val6Leu) | |
| 12 | g.101770062C>T | CA386302471 | GNPTAB | c.1243G>A (p.Val415Ile) c.1162G>A (p.Val388Ile) c.1027G>A (p.Val343Ile) c.16G>A (p.Val6Ile) | |
| 12 | g.101770063A>C | CA386302473 | GNPTAB | c.1242T>G (p.Asp414Glu) c.1161T>G (p.Asp387Glu) c.1026T>G (p.Asp342Glu) c.15T>G (p.Asp5Glu) | |
| 12 | g.101770063A>G | CA481577842 | GNPTAB | c.1242T>C (p.Asp414=) c.1161T>C (p.Asp387=) c.1026T>C (p.Asp342=) c.15T>C (p.Asp5=) | |
| 12 | g.101770063A>T | CA386302474 | GNPTAB | c.1242T>A (p.Asp414Glu) c.1161T>A (p.Asp387Glu) c.1026T>A (p.Asp342Glu) c.15T>A (p.Asp5Glu) | |
| 12 | g.101770064T>A | CA386302478 | GNPTAB | c.1241A>T (p.Asp414Val) c.1160A>T (p.Asp387Val) c.1025A>T (p.Asp342Val) c.14A>T (p.Asp5Val) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.101770064T>C | CA386302477 | GNPTAB | c.1241A>G (p.Asp414Gly) c.1160A>G (p.Asp387Gly) c.1025A>G (p.Asp342Gly) c.14A>G (p.Asp5Gly) | gnomAD v4 |
| 12 | g.101770064T>G | CA6746677 | GNPTAB | c.1241A>C (p.Asp414Ala) c.1160A>C (p.Asp387Ala) c.1025A>C (p.Asp342Ala) c.14A>C (p.Asp5Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770064T= | CA2058957853 | GNPTAB | c.1241A= (p.Asp414=) c.1160A= (p.Asp387=) c.1025A= (p.Asp342=) c.14A= (p.Asp5=) | |
| 12 | g.101770065C>A | CA386302480 | GNPTAB | c.1240G>T (p.Asp414Tyr) c.1159G>T (p.Asp387Tyr) c.1024G>T (p.Asp342Tyr) c.13G>T (p.Asp5Tyr) | |
| 12 | g.101770065C>G | CA386302481 | GNPTAB | c.1240G>C (p.Asp414His) c.1159G>C (p.Asp387His) c.1024G>C (p.Asp342His) c.13G>C (p.Asp5His) | |
| 12 | g.101770065C>T | CA386302482 | GNPTAB | c.1240G>A (p.Asp414Asn) c.1159G>A (p.Asp387Asn) c.1024G>A (p.Asp342Asn) c.13G>A (p.Asp5Asn) | |
| 12 | g.101770066C>A | CA386302484 | GNPTAB | c.1239G>T (p.Lys413Asn) c.1158G>T (p.Lys386Asn) c.1023G>T (p.Lys341Asn) c.12G>T (p.Lys4Asn) | dbSNP |
| 12 | g.101770066C= | CA2058957854 | GNPTAB | c.1239G= (p.Lys413=) c.1158G= (p.Lys386=) c.1023G= (p.Lys341=) c.12G= (p.Lys4=) | |
| 12 | g.101770066C>G | CA386302485 | GNPTAB | c.1239G>C (p.Lys413Asn) c.1158G>C (p.Lys386Asn) c.1023G>C (p.Lys341Asn) c.12G>C (p.Lys4Asn) | |
| 12 | g.101770066C>T | CA481577843 | GNPTAB | c.1239G>A (p.Lys413=) c.1158G>A (p.Lys386=) c.1023G>A (p.Lys341=) c.12G>A (p.Lys4=) | ClinVar |
| 12 | g.101770067T>A | CA386302490 | GNPTAB | c.1238A>T (p.Lys413Met) c.1157A>T (p.Lys386Met) c.1022A>T (p.Lys341Met) c.11A>T (p.Lys4Met) | |
| 12 | g.101770067T>C | CA386302488 | GNPTAB | c.1238A>G (p.Lys413Arg) c.1157A>G (p.Lys386Arg) c.1022A>G (p.Lys341Arg) c.11A>G (p.Lys4Arg) | |
| 12 | g.101770067T>G | CA386302486 | GNPTAB | c.1238A>C (p.Lys413Thr) c.1157A>C (p.Lys386Thr) c.1022A>C (p.Lys341Thr) c.11A>C (p.Lys4Thr) | COSMIC COSMIC |
| 12 | g.101770068T>A | CA386302491 | GNPTAB | c.1237A>T (p.Lys413Ter) c.1156A>T (p.Lys386Ter) c.1021A>T (p.Lys341Ter) c.10A>T (p.Lys4Ter) | |
| 12 | g.101770068T>C | CA386302492 | GNPTAB | c.1237A>G (p.Lys413Glu) c.1156A>G (p.Lys386Glu) c.1021A>G (p.Lys341Glu) c.10A>G (p.Lys4Glu) | ClinVar |
| 12 | g.101770068T>G | CA386302493 | GNPTAB | c.1237A>C (p.Lys413Gln) c.1156A>C (p.Lys386Gln) c.1021A>C (p.Lys341Gln) c.10A>C (p.Lys4Gln) | |
| 12 | g.101770069C>A | CA481577844 | GNPTAB | c.1236G>T (p.Gly412=) c.1155G>T (p.Gly385=) c.1020G>T (p.Gly340=) c.9G>T (p.Gly3=) | |
| 12 | g.101770069C= | CA2058957855 | GNPTAB | c.1236G= (p.Gly412=) c.1155G= (p.Gly385=) c.1020G= (p.Gly340=) c.9G= (p.Gly3=) | |
| 12 | g.101770069C>G | CA481577845 | GNPTAB | c.1236G>C (p.Gly412=) c.1155G>C (p.Gly385=) c.1020G>C (p.Gly340=) c.9G>C (p.Gly3=) | |
| 12 | g.101770069C>T | CA481577846 | GNPTAB | c.1236G>A (p.Gly412=) c.1155G>A (p.Gly385=) c.1020G>A (p.Gly340=) c.9G>A (p.Gly3=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770070C>A | CA386302495 | GNPTAB | c.1235G>T (p.Gly412Val) c.1154G>T (p.Gly385Val) c.1019G>T (p.Gly340Val) c.8G>T (p.Gly3Val) | |
| 12 | g.101770070C>G | CA386302496 | GNPTAB | c.1235G>C (p.Gly412Ala) c.1154G>C (p.Gly385Ala) c.1019G>C (p.Gly340Ala) c.8G>C (p.Gly3Ala) | |
| 12 | g.101770070C>T | CA386302498 | GNPTAB | c.1235G>A (p.Gly412Glu) c.1154G>A (p.Gly385Glu) c.1019G>A (p.Gly340Glu) c.8G>A (p.Gly3Glu) | |
| 12 | g.101770071C>A | CA6746678 | GNPTAB | c.1234G>T (p.Gly412Trp) c.1153G>T (p.Gly385Trp) c.1018G>T (p.Gly340Trp) c.7G>T (p.Gly3Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.101770071C= | CA2058957856 | GNPTAB | c.1234G= (p.Gly412=) c.1153G= (p.Gly385=) c.1018G= (p.Gly340=) c.7G= (p.Gly3=) | |
| 12 | g.101770071C>G | CA386302502 | GNPTAB | c.1234G>C (p.Gly412Arg) c.1153G>C (p.Gly385Arg) c.1018G>C (p.Gly340Arg) c.7G>C (p.Gly3Arg) | gnomAD v4 |
| 12 | g.101770071C>T | CA386302501 | GNPTAB | c.1234G>A (p.Gly412Arg) c.1153G>A (p.Gly385Arg) c.1018G>A (p.Gly340Arg) c.7G>A (p.Gly3Arg) | |
| 12 | g.101770072A= | CA2058957857 | GNPTAB | c.1233T= (p.Phe411=) c.1152T= (p.Phe384=) c.1017T= (p.Phe339=) c.6T= (p.Phe2=) | |
| 12 | g.101770072A>C | CA386302503 | GNPTAB | c.1233T>G (p.Phe411Leu) c.1152T>G (p.Phe384Leu) c.1017T>G (p.Phe339Leu) c.6T>G (p.Phe2Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.101770072A>G | CA481577847 | GNPTAB | c.1233T>C (p.Phe411=) c.1152T>C (p.Phe384=) c.1017T>C (p.Phe339=) c.6T>C (p.Phe2=) | |
| 12 | g.101770072A>T | CA386302504 | GNPTAB | c.1233T>A (p.Phe411Leu) c.1152T>A (p.Phe384Leu) c.1017T>A (p.Phe339Leu) c.6T>A (p.Phe2Leu) | |
| 12 | g.101770073A>C | CA386302506 | GNPTAB | c.1232T>G (p.Phe411Cys) c.1151T>G (p.Phe384Cys) c.1016T>G (p.Phe339Cys) c.5T>G (p.Phe2Cys) | |
| 12 | g.101770073A>G | CA386302508 | GNPTAB | c.1232T>C (p.Phe411Ser) c.1151T>C (p.Phe384Ser) c.1016T>C (p.Phe339Ser) c.5T>C (p.Phe2Ser) | |
| 12 | g.101770073A>T | CA386302509 | GNPTAB | c.1232T>A (p.Phe411Tyr) c.1151T>A (p.Phe384Tyr) c.1016T>A (p.Phe339Tyr) c.5T>A (p.Phe2Tyr) | |
| 12 | g.101770074A>C | CA386302511 | GNPTAB | c.1231T>G (p.Phe411Val) c.1150T>G (p.Phe384Val) c.1015T>G (p.Phe339Val) c.4T>G (p.Phe2Val) | |
| 12 | g.101770074A>G | CA386302512 | GNPTAB | c.1231T>C (p.Phe411Leu) c.1150T>C (p.Phe384Leu) c.1015T>C (p.Phe339Leu) c.4T>C (p.Phe2Leu) | |
| 12 | g.101770074A>T | CA386302513 | GNPTAB | c.1231T>A (p.Phe411Ile) c.1150T>A (p.Phe384Ile) c.1015T>A (p.Phe339Ile) c.4T>A (p.Phe2Ile) | |
| 12 | g.101770075C>A | CA386302515 | GNPTAB | c.1230G>T (p.Met410Ile) c.1149G>T (p.Met383Ile) c.1014G>T (p.Met338Ile) c.3G>T (p.Met1Ile) | |
| 12 | g.101770075C= | CA2058957858 | GNPTAB | c.1230G= (p.Met410=) c.1149G= (p.Met383=) c.1014G= (p.Met338=) c.3G= (p.Met1=) | |
| 12 | g.101770075C>G | CA6746679 | GNPTAB | c.1230G>C (p.Met410Ile) c.1149G>C (p.Met383Ile) c.1014G>C (p.Met338Ile) c.3G>C (p.Met1Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |