| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.232535132_232535133del | CA16609551 | CHRND | c.1374_1375del (p.Lys459ArgfsTer?) c.*556_*557del (n.*556_*557del) c.*1015_*1016del (n.*1015_*1016del) c.1329_1330del (p.Lys444ArgfsTer?) c.792_793del (p.Lys265ArgfsTer?) c.1071_1072del (p.Lys358ArgfsTer?) c.-4294966177_-4294966176del c.-4294965898_-4294965897del c.993_994del (p.Lys332ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.232535132G>A | CA431809014 | CHRND | c.1374G>A (p.Glu458=) c.*556G>A (n.*556G>A) c.*1015G>A (n.*1015G>A) c.1329G>A (p.Glu443=) c.792G>A (p.Glu264=) c.1071G>A (p.Glu357=) c.-4294966177G>A c.-4294965898G>A c.993G>A (p.Glu331=) | COSMIC |
| 2 | g.232535132G>C | CA351005885 | CHRND | c.1374G>C (p.Glu458Asp) c.*556G>C (n.*556G>C) c.*1015G>C (n.*1015G>C) c.1329G>C (p.Glu443Asp) c.792G>C (p.Glu264Asp) c.1071G>C (p.Glu357Asp) c.-4294966177G>C c.-4294965898G>C c.993G>C (p.Glu331Asp) | |
| 2 | g.232535132G>T | CA351005884 | CHRND | c.1374G>T (p.Glu458Asp) c.*556G>T (n.*556G>T) c.*1015G>T (n.*1015G>T) c.1329G>T (p.Glu443Asp) c.792G>T (p.Glu264Asp) c.1071G>T (p.Glu357Asp) c.-4294966177G>T c.-4294965898G>T c.993G>T (p.Glu331Asp) | gnomAD v4 |
| 2 | g.232535133A= | CA1335314462 | CHRND | c.1375A= (p.Lys459=) c.*557A= (n.*557A=) c.*1016A= (n.*1016A=) c.1330A= (p.Lys444=) c.793A= (p.Lys265=) c.1072A= (p.Lys358=) c.-4294966176A= c.-4294965897A= c.994A= (p.Lys332=) | |
| 2 | g.232535133A>C | CA351005886 | CHRND | c.1375A>C (p.Lys459Gln) c.*557A>C (n.*557A>C) c.*1016A>C (n.*1016A>C) c.1330A>C (p.Lys444Gln) c.793A>C (p.Lys265Gln) c.1072A>C (p.Lys358Gln) c.-4294966176A>C c.-4294965897A>C c.994A>C (p.Lys332Gln) | |
| 2 | g.232535133A>G | CA351005887 | CHRND | c.1375A>G (p.Lys459Glu) c.*557A>G (n.*557A>G) c.*1016A>G (n.*1016A>G) c.1330A>G (p.Lys444Glu) c.793A>G (p.Lys265Glu) c.1072A>G (p.Lys358Glu) c.-4294966176A>G c.-4294965897A>G c.994A>G (p.Lys332Glu) | ClinVar dbSNP |
| 2 | g.232535133A>T | CA351005888 | CHRND | c.1375A>T (p.Lys459Ter) c.*557A>T (n.*557A>T) c.*1016A>T (n.*1016A>T) c.1330A>T (p.Lys444Ter) c.793A>T (p.Lys265Ter) c.1072A>T (p.Lys358Ter) c.-4294966176A>T c.-4294965897A>T c.994A>T (p.Lys332Ter) | |
| 2 | g.232535134A>C | CA351005889 | CHRND | c.1376A>C (p.Lys459Thr) c.*558A>C (n.*558A>C) c.*1017A>C (n.*1017A>C) c.1331A>C (p.Lys444Thr) c.794A>C (p.Lys265Thr) c.1073A>C (p.Lys358Thr) c.-4294966175A>C c.-4294965896A>C c.995A>C (p.Lys332Thr) | |
| 2 | g.232535134A>G | CA351005890 | CHRND | c.1376A>G (p.Lys459Arg) c.*558A>G (n.*558A>G) c.*1017A>G (n.*1017A>G) c.1331A>G (p.Lys444Arg) c.794A>G (p.Lys265Arg) c.1073A>G (p.Lys358Arg) c.-4294966175A>G c.-4294965896A>G c.995A>G (p.Lys332Arg) | |
| 2 | g.232535134A>T | CA351005891 | CHRND | c.1376A>T (p.Lys459Ile) c.*558A>T (n.*558A>T) c.*1017A>T (n.*1017A>T) c.1331A>T (p.Lys444Ile) c.794A>T (p.Lys265Ile) c.1073A>T (p.Lys358Ile) c.-4294966175A>T c.-4294965896A>T c.995A>T (p.Lys332Ile) | |
| 2 | g.232535135A= | CA1335314463 | CHRND | c.1377A= (p.Lys459=) c.*559A= (n.*559A=) c.*1018A= (n.*1018A=) c.1332A= (p.Lys444=) c.795A= (p.Lys265=) c.1074A= (p.Lys358=) c.-4294966174A= c.-4294965895A= c.996A= (p.Lys332=) | |
| 2 | g.232535135A>C | CA351005892 | CHRND | c.1377A>C (p.Lys459Asn) c.*559A>C (n.*559A>C) c.*1018A>C (n.*1018A>C) c.1332A>C (p.Lys444Asn) c.795A>C (p.Lys265Asn) c.1074A>C (p.Lys358Asn) c.-4294966174A>C c.-4294965895A>C c.996A>C (p.Lys332Asn) | gnomAD v4 |
| 2 | g.232535135A>G | CA431809020 | CHRND | c.1377A>G (p.Lys459=) c.*559A>G (n.*559A>G) c.*1018A>G (n.*1018A>G) c.1332A>G (p.Lys444=) c.795A>G (p.Lys265=) c.1074A>G (p.Lys358=) c.-4294966174A>G c.-4294965895A>G c.996A>G (p.Lys332=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.232535135A>T | CA351005893 | CHRND | c.1377A>T (p.Lys459Asn) c.*559A>T (n.*559A>T) c.*1018A>T (n.*1018A>T) c.1332A>T (p.Lys444Asn) c.795A>T (p.Lys265Asn) c.1074A>T (p.Lys358Asn) c.-4294966174A>T c.-4294965895A>T c.996A>T (p.Lys332Asn) | |
| 2 | g.232535136G>A | CA351005894 | CHRND | c.1378G>A (p.Asp460Asn) c.*560G>A (n.*560G>A) c.*1019G>A (n.*1019G>A) c.1333G>A (p.Asp445Asn) c.796G>A (p.Asp266Asn) c.1075G>A (p.Asp359Asn) c.-4294966173G>A c.-4294965894G>A c.997G>A (p.Asp333Asn) | |
| 2 | g.232535136G>C | CA351005895 | CHRND | c.1378G>C (p.Asp460His) c.*560G>C (n.*560G>C) c.*1019G>C (n.*1019G>C) c.1333G>C (p.Asp445His) c.796G>C (p.Asp266His) c.1075G>C (p.Asp359His) c.-4294966173G>C c.-4294965894G>C c.997G>C (p.Asp333His) | |
| 2 | g.232535136G= | CA1335314464 | CHRND | c.1378G= (p.Asp460=) c.*560G= (n.*560G=) c.*1019G= (n.*1019G=) c.1333G= (p.Asp445=) c.796G= (p.Asp266=) c.1075G= (p.Asp359=) c.-4294966173G= c.-4294965894G= c.997G= (p.Asp333=) | |
| 2 | g.232535136G>T | CA351005896 | CHRND | c.1378G>T (p.Asp460Tyr) c.*560G>T (n.*560G>T) c.*1019G>T (n.*1019G>T) c.1333G>T (p.Asp445Tyr) c.796G>T (p.Asp266Tyr) c.1075G>T (p.Asp359Tyr) c.-4294966173G>T c.-4294965894G>T c.997G>T (p.Asp333Tyr) | dbSNP |
| 2 | g.232535137A>C | CA351005897 | CHRND | c.1379A>C (p.Asp460Ala) c.*561A>C (n.*561A>C) c.*1020A>C (n.*1020A>C) c.1334A>C (p.Asp445Ala) c.797A>C (p.Asp266Ala) c.1076A>C (p.Asp359Ala) c.-4294966172A>C c.-4294965893A>C c.998A>C (p.Asp333Ala) | |
| 2 | g.232535137A>G | CA351005898 | CHRND | c.1379A>G (p.Asp460Gly) c.*561A>G (n.*561A>G) c.*1020A>G (n.*1020A>G) c.1334A>G (p.Asp445Gly) c.797A>G (p.Asp266Gly) c.1076A>G (p.Asp359Gly) c.-4294966172A>G c.-4294965893A>G c.998A>G (p.Asp333Gly) | |
| 2 | g.232535137A>T | CA351005899 | CHRND | c.1379A>T (p.Asp460Val) c.*561A>T (n.*561A>T) c.*1020A>T (n.*1020A>T) c.1334A>T (p.Asp445Val) c.797A>T (p.Asp266Val) c.1076A>T (p.Asp359Val) c.-4294966172A>T c.-4294965893A>T c.998A>T (p.Asp333Val) | |
| 2 | g.232535138C>A | CA351005901 | CHRND | c.1380C>A (p.Asp460Glu) c.*562C>A (n.*562C>A) c.*1021C>A (n.*1021C>A) c.1335C>A (p.Asp445Glu) c.798C>A (p.Asp266Glu) c.1077C>A (p.Asp359Glu) c.-4294966171C>A c.-4294965892C>A c.999C>A (p.Asp333Glu) | |
| 2 | g.232535138C= | CA1335314465 | CHRND | c.1380C= (p.Asp460=) c.*562C= (n.*562C=) c.*1021C= (n.*1021C=) c.1335C= (p.Asp445=) c.798C= (p.Asp266=) c.1077C= (p.Asp359=) c.-4294966171C= c.-4294965892C= c.999C= (p.Asp333=) | |
| 2 | g.232535138C>G | CA351005900 | CHRND | c.1380C>G (p.Asp460Glu) c.*562C>G (n.*562C>G) c.*1021C>G (n.*1021C>G) c.1335C>G (p.Asp445Glu) c.798C>G (p.Asp266Glu) c.1077C>G (p.Asp359Glu) c.-4294966171C>G c.-4294965892C>G c.999C>G (p.Asp333Glu) | gnomAD v4 |
| 2 | g.232535138C>T | CA431809023 | CHRND | c.1380C>T (p.Asp460=) c.*562C>T (n.*562C>T) c.*1021C>T (n.*1021C>T) c.1335C>T (p.Asp445=) c.798C>T (p.Asp266=) c.1077C>T (p.Asp359=) c.-4294966171C>T c.-4294965892C>T c.999C>T (p.Asp333=) | dbSNP |
| 2 | g.232535138dup | CA2663619732 | CHRND | c.1380dup (p.Ser461GlnfsTer?) c.*562dup (n.*562dup) c.*1021dup (n.*1021dup) c.1335dup (p.Ser446GlnfsTer?) c.798dup (p.Ser267GlnfsTer?) c.1077dup (p.Ser360GlnfsTer?) c.-4294966171dup c.-4294965892dup c.999dup (p.Ser334GlnfsTer?) | gnomAD v4 |
| 2 | g.232535139A>C | CA351005902 | CHRND | c.1381A>C (p.Ser461Arg) c.*563A>C (n.*563A>C) c.*1022A>C (n.*1022A>C) c.1336A>C (p.Ser446Arg) c.799A>C (p.Ser267Arg) c.1078A>C (p.Ser360Arg) c.-4294966170A>C c.-4294965891A>C c.1000A>C (p.Ser334Arg) | |
| 2 | g.232535139A>G | CA351005903 | CHRND | c.1381A>G (p.Ser461Gly) c.*563A>G (n.*563A>G) c.*1022A>G (n.*1022A>G) c.1336A>G (p.Ser446Gly) c.799A>G (p.Ser267Gly) c.1078A>G (p.Ser360Gly) c.-4294966170A>G c.-4294965891A>G c.1000A>G (p.Ser334Gly) | |
| 2 | g.232535139A>T | CA351005904 | CHRND | c.1381A>T (p.Ser461Cys) c.*563A>T (n.*563A>T) c.*1022A>T (n.*1022A>T) c.1336A>T (p.Ser446Cys) c.799A>T (p.Ser267Cys) c.1078A>T (p.Ser360Cys) c.-4294966170A>T c.-4294965891A>T c.1000A>T (p.Ser334Cys) | |
| 2 | g.232535140G>A | CA351005905 | CHRND | c.1382G>A (p.Ser461Asn) c.*564G>A (n.*564G>A) c.*1023G>A (n.*1023G>A) c.1337G>A (p.Ser446Asn) c.800G>A (p.Ser267Asn) c.1079G>A (p.Ser360Asn) c.-4294966169G>A c.-4294965890G>A c.1001G>A (p.Ser334Asn) | |
| 2 | g.232535140G>C | CA351005906 | CHRND | c.1382G>C (p.Ser461Thr) c.*564G>C (n.*564G>C) c.*1023G>C (n.*1023G>C) c.1337G>C (p.Ser446Thr) c.800G>C (p.Ser267Thr) c.1079G>C (p.Ser360Thr) c.-4294966169G>C c.-4294965890G>C c.1001G>C (p.Ser334Thr) | |
| 2 | g.232535140G>T | CA351005907 | CHRND | c.1382G>T (p.Ser461Ile) c.*564G>T (n.*564G>T) c.*1023G>T (n.*1023G>T) c.1337G>T (p.Ser446Ile) c.800G>T (p.Ser267Ile) c.1079G>T (p.Ser360Ile) c.-4294966169G>T c.-4294965890G>T c.1001G>T (p.Ser334Ile) | |
| 2 | g.232535141C>A | CA351005908 | CHRND | c.1383C>A (p.Ser461Arg) c.*565C>A (n.*565C>A) c.*1024C>A (n.*1024C>A) c.1338C>A (p.Ser446Arg) c.801C>A (p.Ser267Arg) c.1080C>A (p.Ser360Arg) c.-4294966168C>A c.-4294965889C>A c.1002C>A (p.Ser334Arg) | |
| 2 | g.232535141C= | CA1335314466 | CHRND | c.1383C= (p.Ser461=) c.*565C= (n.*565C=) c.*1024C= (n.*1024C=) c.1338C= (p.Ser446=) c.801C= (p.Ser267=) c.1080C= (p.Ser360=) c.-4294966168C= c.-4294965889C= c.1002C= (p.Ser334=) | |
| 2 | g.232535141C>G | CA351005909 | CHRND | c.1383C>G (p.Ser461Arg) c.*565C>G (n.*565C>G) c.*1024C>G (n.*1024C>G) c.1338C>G (p.Ser446Arg) c.801C>G (p.Ser267Arg) c.1080C>G (p.Ser360Arg) c.-4294966168C>G c.-4294965889C>G c.1002C>G (p.Ser334Arg) | |
| 2 | g.232535141C>T | CA431809029 | CHRND | c.1383C>T (p.Ser461=) c.*565C>T (n.*565C>T) c.*1024C>T (n.*1024C>T) c.1338C>T (p.Ser446=) c.801C>T (p.Ser267=) c.1080C>T (p.Ser360=) c.-4294966168C>T c.-4294965889C>T c.1002C>T (p.Ser334=) | dbSNP gnomAD v2 |
| 2 | g.232535142T>A | CA351005910 | CHRND | c.1384T>A (p.Trp462Arg) c.*566T>A (n.*566T>A) c.*1025T>A (n.*1025T>A) c.1339T>A (p.Trp447Arg) c.802T>A (p.Trp268Arg) c.1081T>A (p.Trp361Arg) c.-4294966167T>A c.-4294965888T>A c.1003T>A (p.Trp335Arg) | |
| 2 | g.232535142T>C | CA351005911 | CHRND | c.1384T>C (p.Trp462Arg) c.*566T>C (n.*566T>C) c.*1025T>C (n.*1025T>C) c.1339T>C (p.Trp447Arg) c.802T>C (p.Trp268Arg) c.1081T>C (p.Trp361Arg) c.-4294966167T>C c.-4294965888T>C c.1003T>C (p.Trp335Arg) | |
| 2 | g.232535142T>G | CA351005912 | CHRND | c.1384T>G (p.Trp462Gly) c.*566T>G (n.*566T>G) c.*1025T>G (n.*1025T>G) c.1339T>G (p.Trp447Gly) c.802T>G (p.Trp268Gly) c.1081T>G (p.Trp361Gly) c.-4294966167T>G c.-4294965888T>G c.1003T>G (p.Trp335Gly) | |
| 2 | g.232535143G>A | CA351005913 | CHRND | c.1385G>A (p.Trp462Ter) c.*567G>A (n.*567G>A) c.*1026G>A (n.*1026G>A) c.1340G>A (p.Trp447Ter) c.803G>A (p.Trp268Ter) c.1082G>A (p.Trp361Ter) c.-4294966166G>A c.-4294965887G>A c.1004G>A (p.Trp335Ter) | |
| 2 | g.232535143G>C | CA351005914 | CHRND | c.1385G>C (p.Trp462Ser) c.*567G>C (n.*567G>C) c.*1026G>C (n.*1026G>C) c.1340G>C (p.Trp447Ser) c.803G>C (p.Trp268Ser) c.1082G>C (p.Trp361Ser) c.-4294966166G>C c.-4294965887G>C c.1004G>C (p.Trp335Ser) | |
| 2 | g.232535143G= | CA1335314467 | CHRND | c.1385G= (p.Trp462=) c.*567G= (n.*567G=) c.*1026G= (n.*1026G=) c.1340G= (p.Trp447=) c.803G= (p.Trp268=) c.1082G= (p.Trp361=) c.-4294966166G= c.-4294965887G= c.1004G= (p.Trp335=) | |
| 2 | g.232535143G>T | CA16043388 | CHRND | c.1385G>T (p.Trp462Leu) c.*567G>T (n.*567G>T) c.*1026G>T (n.*1026G>T) c.1340G>T (p.Trp447Leu) c.803G>T (p.Trp268Leu) c.1082G>T (p.Trp361Leu) c.-4294966166G>T c.-4294965887G>T c.1004G>T (p.Trp335Leu) | ClinVar dbSNP |
| 2 | g.232535144G>A | CA351005916 | CHRND | c.1386G>A (p.Trp462Ter) c.*568G>A (n.*568G>A) c.*1027G>A (n.*1027G>A) c.1341G>A (p.Trp447Ter) c.804G>A (p.Trp268Ter) c.1083G>A (p.Trp361Ter) c.-4294966165G>A c.-4294965886G>A c.1005G>A (p.Trp335Ter) | COSMIC |
| 2 | g.232535144G>C | CA351005917 | CHRND | c.1386G>C (p.Trp462Cys) c.*568G>C (n.*568G>C) c.*1027G>C (n.*1027G>C) c.1341G>C (p.Trp447Cys) c.804G>C (p.Trp268Cys) c.1083G>C (p.Trp361Cys) c.-4294966165G>C c.-4294965886G>C c.1005G>C (p.Trp335Cys) | |
| 2 | g.232535144G= | CA1335314468 | CHRND | c.1386G= (p.Trp462=) c.*568G= (n.*568G=) c.*1027G= (n.*1027G=) c.1341G= (p.Trp447=) c.804G= (p.Trp268=) c.1083G= (p.Trp361=) c.-4294966165G= c.-4294965886G= c.1005G= (p.Trp335=) | |
| 2 | g.232535144G>T | CA351005915 | CHRND | c.1386G>T (p.Trp462Cys) c.*568G>T (n.*568G>T) c.*1027G>T (n.*1027G>T) c.1341G>T (p.Trp447Cys) c.804G>T (p.Trp268Cys) c.1083G>T (p.Trp361Cys) c.-4294966165G>T c.-4294965886G>T c.1005G>T (p.Trp335Cys) | |
| 2 | g.232535145A>C | CA351005920 | CHRND | c.1387A>C (p.Asn463His) c.*569A>C (n.*569A>C) c.*1028A>C (n.*1028A>C) c.1342A>C (p.Asn448His) c.805A>C (p.Asn269His) c.1084A>C (p.Asn362His) c.-4294966164A>C c.-4294965885A>C c.1006A>C (p.Asn336His) | |
| 2 | g.232535145A>G | CA351005918 | CHRND | c.1387A>G (p.Asn463Asp) c.*569A>G (n.*569A>G) c.*1028A>G (n.*1028A>G) c.1342A>G (p.Asn448Asp) c.805A>G (p.Asn269Asp) c.1084A>G (p.Asn362Asp) c.-4294966164A>G c.-4294965885A>G c.1006A>G (p.Asn336Asp) |