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) | |
2 | g.232535145A>T | CA351005919 | CHRND | c.1387A>T (p.Asn463Tyr) c.*569A>T (n.*569A>T) c.*1028A>T (n.*1028A>T) c.1342A>T (p.Asn448Tyr) c.805A>T (p.Asn269Tyr) c.1084A>T (p.Asn362Tyr) c.-4294966164A>T c.-4294965885A>T c.1006A>T (p.Asn336Tyr) | |
2 | g.232535145_232535148dup | CA1335314469 | CHRND | c.1387_1390dup (p.Arg464GlnfsTer?) c.*569_*572dup (n.*569_*572dup) c.*1028_*1031dup (n.*1028_*1031dup) c.1342_1345dup (p.Arg449GlnfsTer?) c.805_808dup (p.Arg270GlnfsTer?) c.1084_1087dup (p.Arg363GlnfsTer?) c.-4294966164_-4294966161dup c.-4294965885_-4294965882dup c.1006_1009dup (p.Arg337GlnfsTer?) | dbSNP |
2 | g.232535146A= | CA1335314470 | CHRND | c.1388A= (p.Asn463=) c.*570A= (n.*570A=) c.*1029A= (n.*1029A=) c.1343A= (p.Asn448=) c.806A= (p.Asn269=) c.1085A= (p.Asn362=) c.-4294966163A= c.-4294965884A= c.1007A= (p.Asn336=) | |
2 | g.232535146A>C | CA351005921 | CHRND | c.1388A>C (p.Asn463Thr) c.*570A>C (n.*570A>C) c.*1029A>C (n.*1029A>C) c.1343A>C (p.Asn448Thr) c.806A>C (p.Asn269Thr) c.1085A>C (p.Asn362Thr) c.-4294966163A>C c.-4294965884A>C c.1007A>C (p.Asn336Thr) | dbSNP |
2 | g.232535146A>G | CA351005922 | CHRND | c.1388A>G (p.Asn463Ser) c.*570A>G (n.*570A>G) c.*1029A>G (n.*1029A>G) c.1343A>G (p.Asn448Ser) c.806A>G (p.Asn269Ser) c.1085A>G (p.Asn362Ser) c.-4294966163A>G c.-4294965884A>G c.1007A>G (p.Asn336Ser) | |
2 | g.232535146A>T | CA351005923 | CHRND | c.1388A>T (p.Asn463Ile) c.*570A>T (n.*570A>T) c.*1029A>T (n.*1029A>T) c.1343A>T (p.Asn448Ile) c.806A>T (p.Asn269Ile) c.1085A>T (p.Asn362Ile) c.-4294966163A>T c.-4294965884A>T c.1007A>T (p.Asn336Ile) | |
2 | g.232535147C>A | CA351005924 | CHRND | c.1389C>A (p.Asn463Lys) c.*571C>A (n.*571C>A) c.*1030C>A (n.*1030C>A) c.1344C>A (p.Asn448Lys) c.807C>A (p.Asn269Lys) c.1086C>A (p.Asn362Lys) c.-4294966162C>A c.-4294965883C>A c.1008C>A (p.Asn336Lys) | |
2 | g.232535147C>G | CA351005925 | CHRND | c.1389C>G (p.Asn463Lys) c.*571C>G (n.*571C>G) c.*1030C>G (n.*1030C>G) c.1344C>G (p.Asn448Lys) c.807C>G (p.Asn269Lys) c.1086C>G (p.Asn362Lys) c.-4294966162C>G c.-4294965883C>G c.1008C>G (p.Asn336Lys) | |
2 | g.232535147C>T | CA431809037 | CHRND | c.1389C>T (p.Asn463=) c.*571C>T (n.*571C>T) c.*1030C>T (n.*1030C>T) c.1344C>T (p.Asn448=) c.807C>T (p.Asn269=) c.1086C>T (p.Asn362=) c.-4294966162C>T c.-4294965883C>T c.1008C>T (p.Asn336=) | |
2 | g.232535148C>A | CA431809038 | CHRND | c.1390C>A (p.Arg464=) c.*572C>A (n.*572C>A) c.*1031C>A (n.*1031C>A) c.1345C>A (p.Arg449=) c.808C>A (p.Arg270=) c.1087C>A (p.Arg363=) c.-4294966161C>A c.-4294965882C>A c.1009C>A (p.Arg337=) | gnomAD v4 |
2 | g.232535148C= | CA1335314471 | CHRND | c.1390C= (p.Arg464=) c.*572C= (n.*572C=) c.*1031C= (n.*1031C=) c.1345C= (p.Arg449=) c.808C= (p.Arg270=) c.1087C= (p.Arg363=) c.-4294966161C= c.-4294965882C= c.1009C= (p.Arg337=) | |
2 | g.232535148C>G | CA351005926 | CHRND | c.1390C>G (p.Arg464Gly) c.*572C>G (n.*572C>G) c.*1031C>G (n.*1031C>G) c.1345C>G (p.Arg449Gly) c.808C>G (p.Arg270Gly) c.1087C>G (p.Arg363Gly) c.-4294966161C>G c.-4294965882C>G c.1009C>G (p.Arg337Gly) | gnomAD v4 |
2 | g.232535148C>T | CA128070 | CHRND | c.1390C>T (p.Arg464Ter) c.*572C>T (n.*572C>T) c.*1031C>T (n.*1031C>T) c.1345C>T (p.Arg449Ter) c.808C>T (p.Arg270Ter) c.1087C>T (p.Arg363Ter) c.-4294966161C>T c.-4294965882C>T c.1009C>T (p.Arg337Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535149G>A | CA351005927 | CHRND | c.1391G>A (p.Arg464Gln) c.*573G>A (n.*573G>A) c.*1032G>A (n.*1032G>A) c.1346G>A (p.Arg449Gln) c.809G>A (p.Arg270Gln) c.1088G>A (p.Arg363Gln) c.-4294966160G>A c.-4294965881G>A c.1010G>A (p.Arg337Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.232535149G>C | CA351005928 | CHRND | c.1391G>C (p.Arg464Pro) c.*573G>C (n.*573G>C) c.*1032G>C (n.*1032G>C) c.1346G>C (p.Arg449Pro) c.809G>C (p.Arg270Pro) c.1088G>C (p.Arg363Pro) c.-4294966160G>C c.-4294965881G>C c.1010G>C (p.Arg337Pro) | gnomAD v4 |
2 | g.232535149G= | CA1335314472 | CHRND | c.1391G= (p.Arg464=) c.*573G= (n.*573G=) c.*1032G= (n.*1032G=) c.1346G= (p.Arg449=) c.809G= (p.Arg270=) c.1088G= (p.Arg363=) c.-4294966160G= c.-4294965881G= c.1010G= (p.Arg337=) | |
2 | g.232535149G>T | CA351005929 | CHRND | c.1391G>T (p.Arg464Leu) c.*573G>T (n.*573G>T) c.*1032G>T (n.*1032G>T) c.1346G>T (p.Arg449Leu) c.809G>T (p.Arg270Leu) c.1088G>T (p.Arg363Leu) c.-4294966160G>T c.-4294965881G>T c.1010G>T (p.Arg337Leu) | gnomAD v4 |
2 | g.232535150A= | CA1335314473 | CHRND | c.1392A= (p.Arg464=) c.*574A= (n.*574A=) c.*1033A= (n.*1033A=) c.1347A= (p.Arg449=) c.810A= (p.Arg270=) c.1089A= (p.Arg363=) c.-4294966159A= c.-4294965880A= c.1011A= (p.Arg337=) | |
2 | g.232535150A>C | CA431809039 | CHRND | c.1392A>C (p.Arg464=) c.*574A>C (n.*574A>C) c.*1033A>C (n.*1033A>C) c.1347A>C (p.Arg449=) c.810A>C (p.Arg270=) c.1089A>C (p.Arg363=) c.-4294966159A>C c.-4294965880A>C c.1011A>C (p.Arg337=) | |
2 | g.232535150A>G | CA66958358 | CHRND | c.1392A>G (p.Arg464=) c.*574A>G (n.*574A>G) c.*1033A>G (n.*1033A>G) c.1347A>G (p.Arg449=) c.810A>G (p.Arg270=) c.1089A>G (p.Arg363=) c.-4294966159A>G c.-4294965880A>G c.1011A>G (p.Arg337=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232535150A>T | CA431809041 | CHRND | c.1392A>T (p.Arg464=) c.*574A>T (n.*574A>T) c.*1033A>T (n.*1033A>T) c.1347A>T (p.Arg449=) c.810A>T (p.Arg270=) c.1089A>T (p.Arg363=) c.-4294966159A>T c.-4294965880A>T c.1011A>T (p.Arg337=) | |
2 | g.232535151G>A | CA351005932 | CHRND | c.1393G>A (p.Val465Met) c.*575G>A (n.*575G>A) c.*1034G>A (n.*1034G>A) c.1348G>A (p.Val450Met) c.811G>A (p.Val271Met) c.1090G>A (p.Val364Met) c.-4294966158G>A c.-4294965879G>A c.1012G>A (p.Val338Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232535151G>C | CA351005930 | CHRND | c.1393G>C (p.Val465Leu) c.*575G>C (n.*575G>C) c.*1034G>C (n.*1034G>C) c.1348G>C (p.Val450Leu) c.811G>C (p.Val271Leu) c.1090G>C (p.Val364Leu) c.-4294966158G>C c.-4294965879G>C c.1012G>C (p.Val338Leu) | |
2 | g.232535151G= | CA1335314474 | CHRND | c.1393G= (p.Val465=) c.*575G= (n.*575G=) c.*1034G= (n.*1034G=) c.1348G= (p.Val450=) c.811G= (p.Val271=) c.1090G= (p.Val364=) c.-4294966158G= c.-4294965879G= c.1012G= (p.Val338=) | |
2 | g.232535151G>T | CA351005931 | CHRND | c.1393G>T (p.Val465Leu) c.*575G>T (n.*575G>T) c.*1034G>T (n.*1034G>T) c.1348G>T (p.Val450Leu) c.811G>T (p.Val271Leu) c.1090G>T (p.Val364Leu) c.-4294966158G>T c.-4294965879G>T c.1012G>T (p.Val338Leu) | |
2 | g.232535152T>A | CA351005933 | CHRND | c.1394T>A (p.Val465Glu) c.*576T>A (n.*576T>A) c.*1035T>A (n.*1035T>A) c.1349T>A (p.Val450Glu) c.812T>A (p.Val271Glu) c.1091T>A (p.Val364Glu) c.-4294966157T>A c.-4294965878T>A c.1013T>A (p.Val338Glu) | |
2 | g.232535152T>C | CA351005934 | CHRND | c.1394T>C (p.Val465Ala) c.*576T>C (n.*576T>C) c.*1035T>C (n.*1035T>C) c.1349T>C (p.Val450Ala) c.812T>C (p.Val271Ala) c.1091T>C (p.Val364Ala) c.-4294966157T>C c.-4294965878T>C c.1013T>C (p.Val338Ala) | |
2 | g.232535152T>G | CA351005935 | CHRND | c.1394T>G (p.Val465Gly) c.*576T>G (n.*576T>G) c.*1035T>G (n.*1035T>G) c.1349T>G (p.Val450Gly) c.812T>G (p.Val271Gly) c.1091T>G (p.Val364Gly) c.-4294966157T>G c.-4294965878T>G c.1013T>G (p.Val338Gly) | |
2 | g.232535153G>A | CA431809047 | CHRND | c.1395G>A (p.Val465=) c.*577G>A (n.*577G>A) c.*1036G>A (n.*1036G>A) c.1350G>A (p.Val450=) c.813G>A (p.Val271=) c.1092G>A (p.Val364=) c.-4294966156G>A c.-4294965877G>A c.1014G>A (p.Val338=) | |
2 | g.232535153G>C | CA431809048 | CHRND | c.1395G>C (p.Val465=) c.*577G>C (n.*577G>C) c.*1036G>C (n.*1036G>C) c.1350G>C (p.Val450=) c.813G>C (p.Val271=) c.1092G>C (p.Val364=) c.-4294966156G>C c.-4294965877G>C c.1014G>C (p.Val338=) | |
2 | g.232535153G>T | CA431809045 | CHRND | c.1395G>T (p.Val465=) c.*577G>T (n.*577G>T) c.*1036G>T (n.*1036G>T) c.1350G>T (p.Val450=) c.813G>T (p.Val271=) c.1092G>T (p.Val364=) c.-4294966156G>T c.-4294965877G>T c.1014G>T (p.Val338=) | |
2 | g.232535154G>A | CA351005936 | CHRND | c.1396G>A (p.Ala466Thr) c.*578G>A (n.*578G>A) c.*1037G>A (n.*1037G>A) c.1351G>A (p.Ala451Thr) c.814G>A (p.Ala272Thr) c.1093G>A (p.Ala365Thr) c.-4294966155G>A c.-4294965876G>A c.1015G>A (p.Ala339Thr) | gnomAD v4 |
2 | g.232535154G>C | CA351005937 | CHRND | c.1396G>C (p.Ala466Pro) c.*578G>C (n.*578G>C) c.*1037G>C (n.*1037G>C) c.1351G>C (p.Ala451Pro) c.814G>C (p.Ala272Pro) c.1093G>C (p.Ala365Pro) c.-4294966155G>C c.-4294965876G>C c.1015G>C (p.Ala339Pro) | dbSNP |
2 | g.232535154G= | CA1335314475 | CHRND | c.1396G= (p.Ala466=) c.*578G= (n.*578G=) c.*1037G= (n.*1037G=) c.1351G= (p.Ala451=) c.814G= (p.Ala272=) c.1093G= (p.Ala365=) c.-4294966155G= c.-4294965876G= c.1015G= (p.Ala339=) | |
2 | g.232535154G>T | CA351005938 | CHRND | c.1396G>T (p.Ala466Ser) c.*578G>T (n.*578G>T) c.*1037G>T (n.*1037G>T) c.1351G>T (p.Ala451Ser) c.814G>T (p.Ala272Ser) c.1093G>T (p.Ala365Ser) c.-4294966155G>T c.-4294965876G>T c.1015G>T (p.Ala339Ser) | gnomAD v4 |
2 | g.232535155C>A | CA351005939 | CHRND | c.1397C>A (p.Ala466Asp) c.*579C>A (n.*579C>A) c.*1038C>A (n.*1038C>A) c.1352C>A (p.Ala451Asp) c.815C>A (p.Ala272Asp) c.1094C>A (p.Ala365Asp) c.-4294966154C>A c.-4294965875C>A c.1016C>A (p.Ala339Asp) | |
2 | g.232535155C>G | CA351005940 | CHRND | c.1397C>G (p.Ala466Gly) c.*579C>G (n.*579C>G) c.*1038C>G (n.*1038C>G) c.1352C>G (p.Ala451Gly) c.815C>G (p.Ala272Gly) c.1094C>G (p.Ala365Gly) c.-4294966154C>G c.-4294965875C>G c.1016C>G (p.Ala339Gly) | |
2 | g.232535155C>T | CA351005941 | CHRND | c.1397C>T (p.Ala466Val) c.*579C>T (n.*579C>T) c.*1038C>T (n.*1038C>T) c.1352C>T (p.Ala451Val) c.815C>T (p.Ala272Val) c.1094C>T (p.Ala365Val) c.-4294966154C>T c.-4294965875C>T c.1016C>T (p.Ala339Val) | |
2 | g.232535156C>A | CA431809054 | CHRND | c.1398C>A (p.Ala466=) c.*580C>A (n.*580C>A) c.*1039C>A (n.*1039C>A) c.1353C>A (p.Ala451=) c.816C>A (p.Ala272=) c.1095C>A (p.Ala365=) c.-4294966153C>A c.-4294965874C>A c.1017C>A (p.Ala339=) | |
2 | g.232535156C>G | CA431809052 | CHRND | c.1398C>G (p.Ala466=) c.*580C>G (n.*580C>G) c.*1039C>G (n.*1039C>G) c.1353C>G (p.Ala451=) c.816C>G (p.Ala272=) c.1095C>G (p.Ala365=) c.-4294966153C>G c.-4294965874C>G c.1017C>G (p.Ala339=) | |
2 | g.232535156C>T | CA431809053 | CHRND | c.1398C>T (p.Ala466=) c.*580C>T (n.*580C>T) c.*1039C>T (n.*1039C>T) c.1353C>T (p.Ala451=) c.816C>T (p.Ala272=) c.1095C>T (p.Ala365=) c.-4294966153C>T c.-4294965874C>T c.1017C>T (p.Ala339=) | |
2 | g.232535157C>A | CA351005942 | CHRND | c.1399C>A (p.Arg467Ser) c.*581C>A (n.*581C>A) c.*1040C>A (n.*1040C>A) c.1354C>A (p.Arg452Ser) c.817C>A (p.Arg273Ser) c.1096C>A (p.Arg366Ser) c.-4294966152C>A c.-4294965873C>A c.1018C>A (p.Arg340Ser) | |
2 | g.232535157C= | CA1335314476 | CHRND | c.1399C= (p.Arg467=) c.*581C= (n.*581C=) c.*1040C= (n.*1040C=) c.1354C= (p.Arg452=) c.817C= (p.Arg273=) c.1096C= (p.Arg366=) c.-4294966152C= c.-4294965873C= c.1018C= (p.Arg340=) | |
2 | g.232535157C>G | CA351005943 | CHRND | c.1399C>G (p.Arg467Gly) c.*581C>G (n.*581C>G) c.*1040C>G (n.*1040C>G) c.1354C>G (p.Arg452Gly) c.817C>G (p.Arg273Gly) c.1096C>G (p.Arg366Gly) c.-4294966152C>G c.-4294965873C>G c.1018C>G (p.Arg340Gly) | gnomAD v4 |
2 | g.232535157C>T | CA351005944 | CHRND | c.1399C>T (p.Arg467Cys) c.*581C>T (n.*581C>T) c.*1040C>T (n.*1040C>T) c.1354C>T (p.Arg452Cys) c.817C>T (p.Arg273Cys) c.1096C>T (p.Arg366Cys) c.-4294966152C>T c.-4294965873C>T c.1018C>T (p.Arg340Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535158G>A | CA200909 | CHRND | c.1400G>A (p.Arg467His) c.*582G>A (n.*582G>A) c.*1041G>A (n.*1041G>A) c.1355G>A (p.Arg452His) c.818G>A (p.Arg273His) c.1097G>A (p.Arg366His) c.-4294966151G>A c.-4294965872G>A c.1019G>A (p.Arg340His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535158G>C | CA351005946 | CHRND | c.1400G>C (p.Arg467Pro) c.*582G>C (n.*582G>C) c.*1041G>C (n.*1041G>C) c.1355G>C (p.Arg452Pro) c.818G>C (p.Arg273Pro) c.1097G>C (p.Arg366Pro) c.-4294966151G>C c.-4294965872G>C c.1019G>C (p.Arg340Pro) | |
2 | g.232535158G= | CA1335314477 | CHRND | c.1400G= (p.Arg467=) c.*582G= (n.*582G=) c.*1041G= (n.*1041G=) c.1355G= (p.Arg452=) c.818G= (p.Arg273=) c.1097G= (p.Arg366=) c.-4294966151G= c.-4294965872G= c.1019G= (p.Arg340=) | |
2 | g.232535158G>T | CA351005945 | CHRND | c.1400G>T (p.Arg467Leu) c.*582G>T (n.*582G>T) c.*1041G>T (n.*1041G>T) c.1355G>T (p.Arg452Leu) c.818G>T (p.Arg273Leu) c.1097G>T (p.Arg366Leu) c.-4294966151G>T c.-4294965872G>T c.1019G>T (p.Arg340Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.232535159C>A | CA431809058 | CHRND | c.1401C>A (p.Arg467=) c.*583C>A (n.*583C>A) c.*1042C>A (n.*1042C>A) c.1356C>A (p.Arg452=) c.819C>A (p.Arg273=) c.1098C>A (p.Arg366=) c.-4294966150C>A c.-4294965871C>A c.1020C>A (p.Arg340=) | |
2 | g.232535159C>G | CA431809062 | CHRND | c.1401C>G (p.Arg467=) c.*583C>G (n.*583C>G) c.*1042C>G (n.*1042C>G) c.1356C>G (p.Arg452=) c.819C>G (p.Arg273=) c.1098C>G (p.Arg366=) c.-4294966150C>G c.-4294965871C>G c.1020C>G (p.Arg340=) | |
2 | g.232535159C>T | CA431809059 | CHRND | c.1401C>T (p.Arg467=) c.*583C>T (n.*583C>T) c.*1042C>T (n.*1042C>T) c.1356C>T (p.Arg452=) c.819C>T (p.Arg273=) c.1098C>T (p.Arg366=) c.-4294966150C>T c.-4294965871C>T c.1020C>T (p.Arg340=) | |
2 | g.232535160A>C | CA351005949 | CHRND | c.1402A>C (p.Thr468Pro) c.*584A>C (n.*584A>C) c.*1043A>C (n.*1043A>C) c.1357A>C (p.Thr453Pro) c.820A>C (p.Thr274Pro) c.1099A>C (p.Thr367Pro) c.-4294966149A>C c.-4294965870A>C c.1021A>C (p.Thr341Pro) | |
2 | g.232535160A>G | CA351005947 | CHRND | c.1402A>G (p.Thr468Ala) c.*584A>G (n.*584A>G) c.*1043A>G (n.*1043A>G) c.1357A>G (p.Thr453Ala) c.820A>G (p.Thr274Ala) c.1099A>G (p.Thr367Ala) c.-4294966149A>G c.-4294965870A>G c.1021A>G (p.Thr341Ala) | |
2 | g.232535160A>T | CA351005948 | CHRND | c.1402A>T (p.Thr468Ser) c.*584A>T (n.*584A>T) c.*1043A>T (n.*1043A>T) c.1357A>T (p.Thr453Ser) c.820A>T (p.Thr274Ser) c.1099A>T (p.Thr367Ser) c.-4294966149A>T c.-4294965870A>T c.1021A>T (p.Thr341Ser) | |
2 | g.232535161C>A | CA351005950 | CHRND | c.1403C>A (p.Thr468Lys) c.*585C>A (n.*585C>A) c.*1044C>A (n.*1044C>A) c.1358C>A (p.Thr453Lys) c.821C>A (p.Thr274Lys) c.1100C>A (p.Thr367Lys) c.-4294966148C>A c.-4294965869C>A c.1022C>A (p.Thr341Lys) | |
2 | g.232535161C= | CA1335314478 | CHRND | c.1403C= (p.Thr468=) c.*585C= (n.*585C=) c.*1044C= (n.*1044C=) c.1358C= (p.Thr453=) c.821C= (p.Thr274=) c.1100C= (p.Thr367=) c.-4294966148C= c.-4294965869C= c.1022C= (p.Thr341=) | |
2 | g.232535161C>G | CA2168352 | CHRND | c.1403C>G (p.Thr468Arg) c.*585C>G (n.*585C>G) c.*1044C>G (n.*1044C>G) c.1358C>G (p.Thr453Arg) c.821C>G (p.Thr274Arg) c.1100C>G (p.Thr367Arg) c.-4294966148C>G c.-4294965869C>G c.1022C>G (p.Thr341Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535161C>T | CA66958391 | CHRND | c.1403C>T (p.Thr468Ile) c.*585C>T (n.*585C>T) c.*1044C>T (n.*1044C>T) c.1358C>T (p.Thr453Ile) c.821C>T (p.Thr274Ile) c.1100C>T (p.Thr367Ile) c.-4294966148C>T c.-4294965869C>T c.1022C>T (p.Thr341Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535162A>C | CA431809065 | CHRND | c.1404A>C (p.Thr468=) c.*586A>C (n.*586A>C) c.*1045A>C (n.*1045A>C) c.1359A>C (p.Thr453=) c.822A>C (p.Thr274=) c.1101A>C (p.Thr367=) c.-4294966147A>C c.-4294965868A>C c.1023A>C (p.Thr341=) | |
2 | g.232535162A>G | CA431809066 | CHRND | c.1404A>G (p.Thr468=) c.*586A>G (n.*586A>G) c.*1045A>G (n.*1045A>G) c.1359A>G (p.Thr453=) c.822A>G (p.Thr274=) c.1101A>G (p.Thr367=) c.-4294966147A>G c.-4294965868A>G c.1023A>G (p.Thr341=) | |
2 | g.232535162A>T | CA431809067 | CHRND | c.1404A>T (p.Thr468=) c.*586A>T (n.*586A>T) c.*1045A>T (n.*1045A>T) c.1359A>T (p.Thr453=) c.822A>T (p.Thr274=) c.1101A>T (p.Thr367=) c.-4294966147A>T c.-4294965868A>T c.1023A>T (p.Thr341=) | |
2 | g.232535163G>A | CA351005953 | CHRND | c.1405G>A (p.Val469Met) c.*587G>A (n.*587G>A) c.*1046G>A (n.*1046G>A) c.1360G>A (p.Val454Met) c.823G>A (p.Val275Met) c.1102G>A (p.Val368Met) c.-4294966146G>A c.-4294965867G>A c.1024G>A (p.Val342Met) | |
2 | g.232535163G>C | CA351005952 | CHRND | c.1405G>C (p.Val469Leu) c.*587G>C (n.*587G>C) c.*1046G>C (n.*1046G>C) c.1360G>C (p.Val454Leu) c.823G>C (p.Val275Leu) c.1102G>C (p.Val368Leu) c.-4294966146G>C c.-4294965867G>C c.1024G>C (p.Val342Leu) | |
2 | g.232535163G>T | CA351005951 | CHRND | c.1405G>T (p.Val469Leu) c.*587G>T (n.*587G>T) c.*1046G>T (n.*1046G>T) c.1360G>T (p.Val454Leu) c.823G>T (p.Val275Leu) c.1102G>T (p.Val368Leu) c.-4294966146G>T c.-4294965867G>T c.1024G>T (p.Val342Leu) | |
2 | g.232535164T>A | CA351005954 | CHRND | c.1406T>A (p.Val469Glu) c.*588T>A (n.*588T>A) c.*1047T>A (n.*1047T>A) c.1361T>A (p.Val454Glu) c.824T>A (p.Val275Glu) c.1103T>A (p.Val368Glu) c.-4294966145T>A c.-4294965866T>A c.1025T>A (p.Val342Glu) | |
2 | g.232535164T>C | CA351005955 | CHRND | c.1406T>C (p.Val469Ala) c.*588T>C (n.*588T>C) c.*1047T>C (n.*1047T>C) c.1361T>C (p.Val454Ala) c.824T>C (p.Val275Ala) c.1103T>C (p.Val368Ala) c.-4294966145T>C c.-4294965866T>C c.1025T>C (p.Val342Ala) | |
2 | g.232535164T>G | CA351005956 | CHRND | c.1406T>G (p.Val469Gly) c.*588T>G (n.*588T>G) c.*1047T>G (n.*1047T>G) c.1361T>G (p.Val454Gly) c.824T>G (p.Val275Gly) c.1103T>G (p.Val368Gly) c.-4294966145T>G c.-4294965866T>G c.1025T>G (p.Val342Gly) | |
2 | g.232535165G>A | CA431809071 | CHRND | c.1407G>A (p.Val469=) c.*589G>A (n.*589G>A) c.*1048G>A (n.*1048G>A) c.1362G>A (p.Val454=) c.825G>A (p.Val275=) c.1104G>A (p.Val368=) c.-4294966144G>A c.-4294965865G>A c.1026G>A (p.Val342=) | ClinVar |
2 | g.232535165G>C | CA431809072 | CHRND | c.1407G>C (p.Val469=) c.*589G>C (n.*589G>C) c.*1048G>C (n.*1048G>C) c.1362G>C (p.Val454=) c.825G>C (p.Val275=) c.1104G>C (p.Val368=) c.-4294966144G>C c.-4294965865G>C c.1026G>C (p.Val342=) | |
2 | g.232535165G>T | CA431809073 | CHRND | c.1407G>T (p.Val469=) c.*589G>T (n.*589G>T) c.*1048G>T (n.*1048G>T) c.1362G>T (p.Val454=) c.825G>T (p.Val275=) c.1104G>T (p.Val368=) c.-4294966144G>T c.-4294965865G>T c.1026G>T (p.Val342=) | |
2 | g.232535166G>A | CA351005957 | CHRND | c.1408G>A (p.Asp470Asn) c.*590G>A (n.*590G>A) c.*1049G>A (n.*1049G>A) c.1363G>A (p.Asp455Asn) c.826G>A (p.Asp276Asn) c.1105G>A (p.Asp369Asn) c.-4294966143G>A c.-4294965864G>A c.1027G>A (p.Asp343Asn) | gnomAD v4 COSMIC |
2 | g.232535166G>C | CA2168353 | CHRND | c.1408G>C (p.Asp470His) c.*590G>C (n.*590G>C) c.*1049G>C (n.*1049G>C) c.1363G>C (p.Asp455His) c.826G>C (p.Asp276His) c.1105G>C (p.Asp369His) c.-4294966143G>C c.-4294965864G>C c.1027G>C (p.Asp343His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232535166G= | CA1335314479 | CHRND | c.1408G= (p.Asp470=) c.*590G= (n.*590G=) c.*1049G= (n.*1049G=) c.1363G= (p.Asp455=) c.826G= (p.Asp276=) c.1105G= (p.Asp369=) c.-4294966143G= c.-4294965864G= c.1027G= (p.Asp343=) | |
2 | g.232535166G>T | CA351005958 | CHRND | c.1408G>T (p.Asp470Tyr) c.*590G>T (n.*590G>T) c.*1049G>T (n.*1049G>T) c.1363G>T (p.Asp455Tyr) c.826G>T (p.Asp276Tyr) c.1105G>T (p.Asp369Tyr) c.-4294966143G>T c.-4294965864G>T c.1027G>T (p.Asp343Tyr) | dbSNP gnomAD v2 |
2 | g.232535167A= | CA1335314480 | CHRND | c.1409A= (p.Asp470=) c.*591A= (n.*591A=) c.*1050A= (n.*1050A=) c.1364A= (p.Asp455=) c.827A= (p.Asp276=) c.1106A= (p.Asp369=) c.-4294966142A= c.-4294965863A= c.1028A= (p.Asp343=) | |
2 | g.232535167A>C | CA351005959 | CHRND | c.1409A>C (p.Asp470Ala) c.*591A>C (n.*591A>C) c.*1050A>C (n.*1050A>C) c.1364A>C (p.Asp455Ala) c.827A>C (p.Asp276Ala) c.1106A>C (p.Asp369Ala) c.-4294966142A>C c.-4294965863A>C c.1028A>C (p.Asp343Ala) | dbSNP gnomAD v4 |
2 | g.232535167A>G | CA351005961 | CHRND | c.1409A>G (p.Asp470Gly) c.*591A>G (n.*591A>G) c.*1050A>G (n.*1050A>G) c.1364A>G (p.Asp455Gly) c.827A>G (p.Asp276Gly) c.1106A>G (p.Asp369Gly) c.-4294966142A>G c.-4294965863A>G c.1028A>G (p.Asp343Gly) | |
2 | g.232535167A>T | CA351005960 | CHRND | c.1409A>T (p.Asp470Val) c.*591A>T (n.*591A>T) c.*1050A>T (n.*1050A>T) c.1364A>T (p.Asp455Val) c.827A>T (p.Asp276Val) c.1106A>T (p.Asp369Val) c.-4294966142A>T c.-4294965863A>T c.1028A>T (p.Asp343Val) | |
2 | g.232535168C>A | CA351005962 | CHRND | c.1410C>A (p.Asp470Glu) c.*592C>A (n.*592C>A) c.*1051C>A (n.*1051C>A) c.1365C>A (p.Asp455Glu) c.828C>A (p.Asp276Glu) c.1107C>A (p.Asp369Glu) c.-4294966141C>A c.-4294965862C>A c.1029C>A (p.Asp343Glu) | |
2 | g.232535168C= | CA1335314481 | CHRND | c.1410C= (p.Asp470=) c.*592C= (n.*592C=) c.*1051C= (n.*1051C=) c.1365C= (p.Asp455=) c.828C= (p.Asp276=) c.1107C= (p.Asp369=) c.-4294966141C= c.-4294965862C= c.1029C= (p.Asp343=) | |
2 | g.232535168C>G | CA351005963 | CHRND | c.1410C>G (p.Asp470Glu) c.*592C>G (n.*592C>G) c.*1051C>G (n.*1051C>G) c.1365C>G (p.Asp455Glu) c.828C>G (p.Asp276Glu) c.1107C>G (p.Asp369Glu) c.-4294966141C>G c.-4294965862C>G c.1029C>G (p.Asp343Glu) | |
2 | g.232535168C>T | CA431809075 | CHRND | c.1410C>T (p.Asp470=) c.*592C>T (n.*592C>T) c.*1051C>T (n.*1051C>T) c.1365C>T (p.Asp455=) c.828C>T (p.Asp276=) c.1107C>T (p.Asp369=) c.-4294966141C>T c.-4294965862C>T c.1029C>T (p.Asp343=) | dbSNP gnomAD v4 |
2 | g.232535169C>A | CA351005964 | CHRND | c.1411C>A (p.Arg471Ser) c.*593C>A (n.*593C>A) c.*1052C>A (n.*1052C>A) c.1366C>A (p.Arg456Ser) c.829C>A (p.Arg277Ser) c.1108C>A (p.Arg370Ser) c.-4294966140C>A c.-4294965861C>A c.1030C>A (p.Arg344Ser) | |
2 | g.232535169C= | CA1335314482 | CHRND | c.1411C= (p.Arg471=) c.*593C= (n.*593C=) c.*1052C= (n.*1052C=) c.1366C= (p.Arg456=) c.829C= (p.Arg277=) c.1108C= (p.Arg370=) c.-4294966140C= c.-4294965861C= c.1030C= (p.Arg344=) | |
2 | g.232535169C>G | CA351005965 | CHRND | c.1411C>G (p.Arg471Gly) c.*593C>G (n.*593C>G) c.*1052C>G (n.*1052C>G) c.1366C>G (p.Arg456Gly) c.829C>G (p.Arg277Gly) c.1108C>G (p.Arg370Gly) c.-4294966140C>G c.-4294965861C>G c.1030C>G (p.Arg344Gly) | ClinVar dbSNP |
2 | g.232535169C>T | CA2168354 | CHRND | c.1411C>T (p.Arg471Cys) c.*593C>T (n.*593C>T) c.*1052C>T (n.*1052C>T) c.1366C>T (p.Arg456Cys) c.829C>T (p.Arg277Cys) c.1108C>T (p.Arg370Cys) c.-4294966140C>T c.-4294965861C>T c.1030C>T (p.Arg344Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535170G>A | CA66958411 | CHRND | c.1412G>A (p.Arg471His) c.*594G>A (n.*594G>A) c.*1053G>A (n.*1053G>A) c.1367G>A (p.Arg456His) c.830G>A (p.Arg277His) c.1109G>A (p.Arg370His) c.-4294966139G>A c.-4294965860G>A c.1031G>A (p.Arg344His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535170G>C | CA351005966 | CHRND | c.1412G>C (p.Arg471Pro) c.*594G>C (n.*594G>C) c.*1053G>C (n.*1053G>C) c.1367G>C (p.Arg456Pro) c.830G>C (p.Arg277Pro) c.1109G>C (p.Arg370Pro) c.-4294966139G>C c.-4294965860G>C c.1031G>C (p.Arg344Pro) | |
2 | g.232535170G= | CA1335314483 | CHRND | c.1412G= (p.Arg471=) c.*594G= (n.*594G=) c.*1053G= (n.*1053G=) c.1367G= (p.Arg456=) c.830G= (p.Arg277=) c.1109G= (p.Arg370=) c.-4294966139G= c.-4294965860G= c.1031G= (p.Arg344=) | |
2 | g.232535170G>T | CA351005967 | CHRND | c.1412G>T (p.Arg471Leu) c.*594G>T (n.*594G>T) c.*1053G>T (n.*1053G>T) c.1367G>T (p.Arg456Leu) c.830G>T (p.Arg277Leu) c.1109G>T (p.Arg370Leu) c.-4294966139G>T c.-4294965860G>T c.1031G>T (p.Arg344Leu) | |
2 | g.232535171C>A | CA431809077 | CHRND | c.1413C>A (p.Arg471=) c.*595C>A (n.*595C>A) c.*1054C>A (n.*1054C>A) c.1368C>A (p.Arg456=) c.831C>A (p.Arg277=) c.1110C>A (p.Arg370=) c.-4294966138C>A c.-4294965859C>A c.1032C>A (p.Arg344=) | |
2 | g.232535171C= | CA1335314484 | CHRND | c.1413C= (p.Arg471=) c.*595C= (n.*595C=) c.*1054C= (n.*1054C=) c.1368C= (p.Arg456=) c.831C= (p.Arg277=) c.1110C= (p.Arg370=) c.-4294966138C= c.-4294965859C= c.1032C= (p.Arg344=) | |
2 | g.232535171C>G | CA2168355 | CHRND | c.1413C>G (p.Arg471=) c.*595C>G (n.*595C>G) c.*1054C>G (n.*1054C>G) c.1368C>G (p.Arg456=) c.831C>G (p.Arg277=) c.1110C>G (p.Arg370=) c.-4294966138C>G c.-4294965859C>G c.1032C>G (p.Arg344=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232535171C>T | CA431809078 | CHRND | c.1413C>T (p.Arg471=) c.*595C>T (n.*595C>T) c.*1054C>T (n.*1054C>T) c.1368C>T (p.Arg456=) c.831C>T (p.Arg277=) c.1110C>T (p.Arg370=) c.-4294966138C>T c.-4294965859C>T c.1032C>T (p.Arg344=) | |
2 | g.232535172C>A | CA351005968 | CHRND | c.1414C>A (p.Leu472Ile) c.*596C>A (n.*596C>A) c.*1055C>A (n.*1055C>A) c.1369C>A (p.Leu457Ile) c.832C>A (p.Leu278Ile) c.1111C>A (p.Leu371Ile) c.-4294966137C>A c.-4294965858C>A c.1033C>A (p.Leu345Ile) | |
2 | g.232535172C>G | CA351005969 | CHRND | c.1414C>G (p.Leu472Val) c.*596C>G (n.*596C>G) c.*1055C>G (n.*1055C>G) c.1369C>G (p.Leu457Val) c.832C>G (p.Leu278Val) c.1111C>G (p.Leu371Val) c.-4294966137C>G c.-4294965858C>G c.1033C>G (p.Leu345Val) | |
2 | g.232535172C>T | CA351005970 | CHRND | c.1414C>T (p.Leu472Phe) c.*596C>T (n.*596C>T) c.*1055C>T (n.*1055C>T) c.1369C>T (p.Leu457Phe) c.832C>T (p.Leu278Phe) c.1111C>T (p.Leu371Phe) c.-4294966137C>T c.-4294965858C>T c.1033C>T (p.Leu345Phe) | gnomAD v4 |
2 | g.232535173T>A | CA351005973 | CHRND | c.1415T>A (p.Leu472His) c.*597T>A (n.*597T>A) c.*1056T>A (n.*1056T>A) c.1370T>A (p.Leu457His) c.833T>A (p.Leu278His) c.1112T>A (p.Leu371His) c.-4294966136T>A c.-4294965857T>A c.1034T>A (p.Leu345His) | dbSNP |
2 | g.232535173T>C | CA351005972 | CHRND | c.1415T>C (p.Leu472Pro) c.*597T>C (n.*597T>C) c.*1056T>C (n.*1056T>C) c.1370T>C (p.Leu457Pro) c.833T>C (p.Leu278Pro) c.1112T>C (p.Leu371Pro) c.-4294966136T>C c.-4294965857T>C c.1034T>C (p.Leu345Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232535173T>G | CA351005971 | CHRND | c.1415T>G (p.Leu472Arg) c.*597T>G (n.*597T>G) c.*1056T>G (n.*1056T>G) c.1370T>G (p.Leu457Arg) c.833T>G (p.Leu278Arg) c.1112T>G (p.Leu371Arg) c.-4294966136T>G c.-4294965857T>G c.1034T>G (p.Leu345Arg) | |
2 | g.232535173T= | CA1335314485 | CHRND | c.1415T= (p.Leu472=) c.*597T= (n.*597T=) c.*1056T= (n.*1056T=) c.1370T= (p.Leu457=) c.833T= (p.Leu278=) c.1112T= (p.Leu371=) c.-4294966136T= c.-4294965857T= c.1034T= (p.Leu345=) | |
2 | g.232535174C>A | CA431809080 | CHRND | c.1416C>A (p.Leu472=) c.*598C>A (n.*598C>A) c.*1057C>A (n.*1057C>A) c.1371C>A (p.Leu457=) c.834C>A (p.Leu278=) c.1113C>A (p.Leu371=) c.-4294966135C>A c.-4294965856C>A c.1035C>A (p.Leu345=) | |
2 | g.232535174C= | CA1335314486 | CHRND | c.1416C= (p.Leu472=) c.*598C= (n.*598C=) c.*1057C= (n.*1057C=) c.1371C= (p.Leu457=) c.834C= (p.Leu278=) c.1113C= (p.Leu371=) c.-4294966135C= c.-4294965856C= c.1035C= (p.Leu345=) | |
2 | g.232535174C>G | CA431809081 | CHRND | c.1416C>G (p.Leu472=) c.*598C>G (n.*598C>G) c.*1057C>G (n.*1057C>G) c.1371C>G (p.Leu457=) c.834C>G (p.Leu278=) c.1113C>G (p.Leu371=) c.-4294966135C>G c.-4294965856C>G c.1035C>G (p.Leu345=) | |
2 | g.232535174C>T | CA2168356 | CHRND | c.1416C>T (p.Leu472=) c.*598C>T (n.*598C>T) c.*1057C>T (n.*1057C>T) c.1371C>T (p.Leu457=) c.834C>T (p.Leu278=) c.1113C>T (p.Leu371=) c.-4294966135C>T c.-4294965856C>T c.1035C>T (p.Leu345=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535175T>A | CA351005974 | CHRND | c.1417T>A (p.Cys473Ser) c.*599T>A (n.*599T>A) c.*1058T>A (n.*1058T>A) c.1372T>A (p.Cys458Ser) c.835T>A (p.Cys279Ser) c.1114T>A (p.Cys372Ser) c.-4294966134T>A c.-4294965855T>A c.1036T>A (p.Cys346Ser) | |
2 | g.232535175T>C | CA351005975 | CHRND | c.1417T>C (p.Cys473Arg) c.*599T>C (n.*599T>C) c.*1058T>C (n.*1058T>C) c.1372T>C (p.Cys458Arg) c.835T>C (p.Cys279Arg) c.1114T>C (p.Cys372Arg) c.-4294966134T>C c.-4294965855T>C c.1036T>C (p.Cys346Arg) | |
2 | g.232535175T>G | CA351005976 | CHRND | c.1417T>G (p.Cys473Gly) c.*599T>G (n.*599T>G) c.*1058T>G (n.*1058T>G) c.1372T>G (p.Cys458Gly) c.835T>G (p.Cys279Gly) c.1114T>G (p.Cys372Gly) c.-4294966134T>G c.-4294965855T>G c.1036T>G (p.Cys346Gly) | |
2 | g.232535175dup | CA540310033 | CHRND | c.1417dup (p.Cys473LeufsTer?) c.*599dup (n.*599dup) c.*1058dup (n.*1058dup) c.1372dup (p.Cys458LeufsTer?) c.835dup (p.Cys279LeufsTer?) c.1114dup (p.Cys372LeufsTer?) c.-4294966134dup c.-4294965855dup c.1036dup (p.Cys346LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535176G>A | CA351005977 | CHRND | c.1418G>A (p.Cys473Tyr) c.*600G>A (n.*600G>A) c.*1059G>A (n.*1059G>A) c.1373G>A (p.Cys458Tyr) c.836G>A (p.Cys279Tyr) c.1115G>A (p.Cys372Tyr) c.-4294966133G>A c.-4294965854G>A c.1037G>A (p.Cys346Tyr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.232535176G>C | CA351005978 | CHRND | c.1418G>C (p.Cys473Ser) c.*600G>C (n.*600G>C) c.*1059G>C (n.*1059G>C) c.1373G>C (p.Cys458Ser) c.836G>C (p.Cys279Ser) c.1115G>C (p.Cys372Ser) c.-4294966133G>C c.-4294965854G>C c.1037G>C (p.Cys346Ser) | gnomAD v4 |
2 | g.232535176G= | CA1335314487 | CHRND | c.1418G= (p.Cys473=) c.*600G= (n.*600G=) c.*1059G= (n.*1059G=) c.1373G= (p.Cys458=) c.836G= (p.Cys279=) c.1115G= (p.Cys372=) c.-4294966133G= c.-4294965854G= c.1037G= (p.Cys346=) | |
2 | g.232535176G>T | CA351005979 | CHRND | c.1418G>T (p.Cys473Phe) c.*600G>T (n.*600G>T) c.*1059G>T (n.*1059G>T) c.1373G>T (p.Cys458Phe) c.836G>T (p.Cys279Phe) c.1115G>T (p.Cys372Phe) c.-4294966133G>T c.-4294965854G>T c.1037G>T (p.Cys346Phe) | |
2 | g.232535177C>A | CA351005981 | CHRND | c.1419C>A (p.Cys473Ter) c.*601C>A (n.*601C>A) c.*1060C>A (n.*1060C>A) c.1374C>A (p.Cys458Ter) c.837C>A (p.Cys279Ter) c.1116C>A (p.Cys372Ter) c.-4294966132C>A c.-4294965853C>A c.1038C>A (p.Cys346Ter) | gnomAD v4 |
2 | g.232535177C= | CA1335314488 | CHRND | c.1419C= (p.Cys473=) c.*601C= (n.*601C=) c.*1060C= (n.*1060C=) c.1374C= (p.Cys458=) c.837C= (p.Cys279=) c.1116C= (p.Cys372=) c.-4294966132C= c.-4294965853C= c.1038C= (p.Cys346=) | |
2 | g.232535177C>G | CA351005980 | CHRND | c.1419C>G (p.Cys473Trp) c.*601C>G (n.*601C>G) c.*1060C>G (n.*1060C>G) c.1374C>G (p.Cys458Trp) c.837C>G (p.Cys279Trp) c.1116C>G (p.Cys372Trp) c.-4294966132C>G c.-4294965853C>G c.1038C>G (p.Cys346Trp) | |
2 | g.232535177C>T | CA431809085 | CHRND | c.1419C>T (p.Cys473=) c.*601C>T (n.*601C>T) c.*1060C>T (n.*1060C>T) c.1374C>T (p.Cys458=) c.837C>T (p.Cys279=) c.1116C>T (p.Cys372=) c.-4294966132C>T c.-4294965853C>T c.1038C>T (p.Cys346=) | dbSNP gnomAD v2 |
2 | g.232535178C>A | CA351005982 | CHRND | c.1420C>A (p.Leu474Met) c.*602C>A (n.*602C>A) c.*1061C>A (n.*1061C>A) c.1375C>A (p.Leu459Met) c.838C>A (p.Leu280Met) c.1117C>A (p.Leu373Met) c.-4294966131C>A c.-4294965852C>A c.1039C>A (p.Leu347Met) | |
2 | g.232535178C>G | CA351005983 | CHRND | c.1420C>G (p.Leu474Val) c.*602C>G (n.*602C>G) c.*1061C>G (n.*1061C>G) c.1375C>G (p.Leu459Val) c.838C>G (p.Leu280Val) c.1117C>G (p.Leu373Val) c.-4294966131C>G c.-4294965852C>G c.1039C>G (p.Leu347Val) | |
2 | g.232535178C>T | CA431809089 | CHRND | c.1420C>T (p.Leu474=) c.*602C>T (n.*602C>T) c.*1061C>T (n.*1061C>T) c.1375C>T (p.Leu459=) c.838C>T (p.Leu280=) c.1117C>T (p.Leu373=) c.-4294966131C>T c.-4294965852C>T c.1039C>T (p.Leu347=) | |
2 | g.232535179T>A | CA351005984 | CHRND | c.1421T>A (p.Leu474Gln) c.*603T>A (n.*603T>A) c.*1062T>A (n.*1062T>A) c.1376T>A (p.Leu459Gln) c.839T>A (p.Leu280Gln) c.1118T>A (p.Leu373Gln) c.-4294966130T>A c.-4294965851T>A c.1040T>A (p.Leu347Gln) | |
2 | g.232535179T>C | CA351005985 | CHRND | c.1421T>C (p.Leu474Pro) c.*603T>C (n.*603T>C) c.*1062T>C (n.*1062T>C) c.1376T>C (p.Leu459Pro) c.839T>C (p.Leu280Pro) c.1118T>C (p.Leu373Pro) c.-4294966130T>C c.-4294965851T>C c.1040T>C (p.Leu347Pro) | |
2 | g.232535179T>G | CA351005986 | CHRND | c.1421T>G (p.Leu474Arg) c.*603T>G (n.*603T>G) c.*1062T>G (n.*1062T>G) c.1376T>G (p.Leu459Arg) c.839T>G (p.Leu280Arg) c.1118T>G (p.Leu373Arg) c.-4294966130T>G c.-4294965851T>G c.1040T>G (p.Leu347Arg) | |
2 | g.232535179_232535180delinsTG | CA1335314489 | CHRND | c.1421_1422delinsTG (p.Leu474=) c.*603_*604delinsTG (n.*603_*604delinsTG) c.*1062_*1063delinsTG (n.*1062_*1063delinsTG) c.1376_1377delinsTG (p.Leu459=) c.839_840delinsTG (p.Leu280=) c.1118_1119delinsTG (p.Leu373=) c.-4294966130_-4294966129delinsTG c.-4294965851_-4294965850delinsTG c.1040_1041delinsTG (p.Leu347=) | |
2 | g.232535182_232535185del | CA431809090 | CHRND | c.1424_1427del (p.Phe475TrpfsTer2) c.*606_*609del (n.*606_*609del) c.*1065_*1068del (n.*1065_*1068del) c.1379_1382del (p.Phe460TrpfsTer2) c.842_845del (p.Phe281TrpfsTer2) c.1121_1124del (p.Phe374TrpfsTer2) c.-4294966127_-4294966124del c.-4294965848_-4294965845del c.1043_1046del (p.Phe348TrpfsTer2) | |
2 | g.232535180del | CA2168357 | CHRND | c.1422del (p.Phe475LeufsTer3) c.*604del (n.*604del) c.*1063del (n.*1063del) c.1377del (p.Phe460LeufsTer3) c.840del (p.Phe281LeufsTer3) c.1119del (p.Phe374LeufsTer3) c.-4294966129del c.-4294965850del c.1041del (p.Phe348LeufsTer3) | dbSNP ExAC gnomAD v2 COSMIC |
2 | g.232535180G>A | CA431809091 | CHRND | c.1422G>A (p.Leu474=) c.*604G>A (n.*604G>A) c.*1063G>A (n.*1063G>A) c.1377G>A (p.Leu459=) c.840G>A (p.Leu280=) c.1119G>A (p.Leu373=) c.-4294966129G>A c.-4294965850G>A c.1041G>A (p.Leu347=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.232535180G>C | CA431809093 | CHRND | c.1422G>C (p.Leu474=) c.*604G>C (n.*604G>C) c.*1063G>C (n.*1063G>C) c.1377G>C (p.Leu459=) c.840G>C (p.Leu280=) c.1119G>C (p.Leu373=) c.-4294966129G>C c.-4294965850G>C c.1041G>C (p.Leu347=) | |
2 | g.232535180G= | CA1335314490 | CHRND | c.1422G= (p.Leu474=) c.*604G= (n.*604G=) c.*1063G= (n.*1063G=) c.1377G= (p.Leu459=) c.840G= (p.Leu280=) c.1119G= (p.Leu373=) c.-4294966129G= c.-4294965850G= c.1041G= (p.Leu347=) | |
2 | g.232535180G>T | CA431809092 | CHRND | c.1422G>T (p.Leu474=) c.*604G>T (n.*604G>T) c.*1063G>T (n.*1063G>T) c.1377G>T (p.Leu459=) c.840G>T (p.Leu280=) c.1119G>T (p.Leu373=) c.-4294966129G>T c.-4294965850G>T c.1041G>T (p.Leu347=) | |
2 | g.232535181T>A | CA351005987 | CHRND | c.1423T>A (p.Phe475Ile) c.*605T>A (n.*605T>A) c.*1064T>A (n.*1064T>A) c.1378T>A (p.Phe460Ile) c.841T>A (p.Phe281Ile) c.1120T>A (p.Phe374Ile) c.-4294966128T>A c.-4294965849T>A c.1042T>A (p.Phe348Ile) | |
2 | g.232535181T>C | CA351005989 | CHRND | c.1423T>C (p.Phe475Leu) c.*605T>C (n.*605T>C) c.*1064T>C (n.*1064T>C) c.1378T>C (p.Phe460Leu) c.841T>C (p.Phe281Leu) c.1120T>C (p.Phe374Leu) c.-4294966128T>C c.-4294965849T>C c.1042T>C (p.Phe348Leu) | |
2 | g.232535181T>G | CA351005988 | CHRND | c.1423T>G (p.Phe475Val) c.*605T>G (n.*605T>G) c.*1064T>G (n.*1064T>G) c.1378T>G (p.Phe460Val) c.841T>G (p.Phe281Val) c.1120T>G (p.Phe374Val) c.-4294966128T>G c.-4294965849T>G c.1042T>G (p.Phe348Val) | |
2 | g.232535182T>A | CA351005990 | CHRND | c.1424T>A (p.Phe475Tyr) c.*606T>A (n.*606T>A) c.*1065T>A (n.*1065T>A) c.1379T>A (p.Phe460Tyr) c.842T>A (p.Phe281Tyr) c.1121T>A (p.Phe374Tyr) c.-4294966127T>A c.-4294965848T>A c.1043T>A (p.Phe348Tyr) | |
2 | g.232535182T>C | CA351005991 | CHRND | c.1424T>C (p.Phe475Ser) c.*606T>C (n.*606T>C) c.*1065T>C (n.*1065T>C) c.1379T>C (p.Phe460Ser) c.842T>C (p.Phe281Ser) c.1121T>C (p.Phe374Ser) c.-4294966127T>C c.-4294965848T>C c.1043T>C (p.Phe348Ser) | dbSNP gnomAD v4 |
2 | g.232535182T>G | CA351005992 | CHRND | c.1424T>G (p.Phe475Cys) c.*606T>G (n.*606T>G) c.*1065T>G (n.*1065T>G) c.1379T>G (p.Phe460Cys) c.842T>G (p.Phe281Cys) c.1121T>G (p.Phe374Cys) c.-4294966127T>G c.-4294965848T>G c.1043T>G (p.Phe348Cys) | |
2 | g.232535182T= | CA1335314491 | CHRND | c.1424T= (p.Phe475=) c.*606T= (n.*606T=) c.*1065T= (n.*1065T=) c.1379T= (p.Phe460=) c.842T= (p.Phe281=) c.1121T= (p.Phe374=) c.-4294966127T= c.-4294965848T= c.1043T= (p.Phe348=) | |
2 | g.232535183T>A | CA351005993 | CHRND | c.1425T>A (p.Phe475Leu) c.*607T>A (n.*607T>A) c.*1066T>A (n.*1066T>A) c.1380T>A (p.Phe460Leu) c.843T>A (p.Phe281Leu) c.1122T>A (p.Phe374Leu) c.-4294966126T>A c.-4294965847T>A c.1044T>A (p.Phe348Leu) | |
2 | g.232535183T>C | CA431809097 | CHRND | c.1425T>C (p.Phe475=) c.*607T>C (n.*607T>C) c.*1066T>C (n.*1066T>C) c.1380T>C (p.Phe460=) c.843T>C (p.Phe281=) c.1122T>C (p.Phe374=) c.-4294966126T>C c.-4294965847T>C c.1044T>C (p.Phe348=) | |
2 | g.232535183T>G | CA351005994 | CHRND | c.1425T>G (p.Phe475Leu) c.*607T>G (n.*607T>G) c.*1066T>G (n.*1066T>G) c.1380T>G (p.Phe460Leu) c.843T>G (p.Phe281Leu) c.1122T>G (p.Phe374Leu) c.-4294966126T>G c.-4294965847T>G c.1044T>G (p.Phe348Leu) | |
2 | g.232535184G>A | CA351005995 | CHRND | c.1426G>A (p.Val476Met) c.*608G>A (n.*608G>A) c.*1067G>A (n.*1067G>A) c.1381G>A (p.Val461Met) c.844G>A (p.Val282Met) c.1123G>A (p.Val375Met) c.-4294966125G>A c.-4294965846G>A c.1045G>A (p.Val349Met) | |
2 | g.232535184G>C | CA66958416 | CHRND | c.1426G>C (p.Val476Leu) c.*608G>C (n.*608G>C) c.*1067G>C (n.*1067G>C) c.1381G>C (p.Val461Leu) c.844G>C (p.Val282Leu) c.1123G>C (p.Val375Leu) c.-4294966125G>C c.-4294965846G>C c.1045G>C (p.Val349Leu) | dbSNP gnomAD v4 |
2 | g.232535184G= | CA1335314492 | CHRND | c.1426G= (p.Val476=) c.*608G= (n.*608G=) c.*1067G= (n.*1067G=) c.1381G= (p.Val461=) c.844G= (p.Val282=) c.1123G= (p.Val375=) c.-4294966125G= c.-4294965846G= c.1045G= (p.Val349=) | |
2 | g.232535184G>T | CA351005996 | CHRND | c.1426G>T (p.Val476Leu) c.*608G>T (n.*608G>T) c.*1067G>T (n.*1067G>T) c.1381G>T (p.Val461Leu) c.844G>T (p.Val282Leu) c.1123G>T (p.Val375Leu) c.-4294966125G>T c.-4294965846G>T c.1045G>T (p.Val349Leu) | |
2 | g.232535185T>A | CA351005997 | CHRND | c.1427T>A (p.Val476Glu) c.*609T>A (n.*609T>A) c.*1068T>A (n.*1068T>A) c.1382T>A (p.Val461Glu) c.845T>A (p.Val282Glu) c.1124T>A (p.Val375Glu) c.-4294966124T>A c.-4294965845T>A c.1046T>A (p.Val349Glu) | |
2 | g.232535185T>C | CA351005998 | CHRND | c.1427T>C (p.Val476Ala) c.*609T>C (n.*609T>C) c.*1068T>C (n.*1068T>C) c.1382T>C (p.Val461Ala) c.845T>C (p.Val282Ala) c.1124T>C (p.Val375Ala) c.-4294966124T>C c.-4294965845T>C c.1046T>C (p.Val349Ala) | |
2 | g.232535185T>G | CA351005999 | CHRND | c.1427T>G (p.Val476Gly) c.*609T>G (n.*609T>G) c.*1068T>G (n.*1068T>G) c.1382T>G (p.Val461Gly) c.845T>G (p.Val282Gly) c.1124T>G (p.Val375Gly) c.-4294966124T>G c.-4294965845T>G c.1046T>G (p.Val349Gly) | |
2 | g.232535186G>A | CA2168358 | CHRND | c.1428G>A (p.Val476=) c.*610G>A (n.*610G>A) c.*1069G>A (n.*1069G>A) c.1383G>A (p.Val461=) c.846G>A (p.Val282=) c.1125G>A (p.Val375=) c.-4294966123G>A c.-4294965844G>A c.1047G>A (p.Val349=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535186G>C | CA431809100 | CHRND | c.1428G>C (p.Val476=) c.*610G>C (n.*610G>C) c.*1069G>C (n.*1069G>C) c.1383G>C (p.Val461=) c.846G>C (p.Val282=) c.1125G>C (p.Val375=) c.-4294966123G>C c.-4294965844G>C c.1047G>C (p.Val349=) | |
2 | g.232535186G= | CA1335314493 | CHRND | c.1428G= (p.Val476=) c.*610G= (n.*610G=) c.*1069G= (n.*1069G=) c.1383G= (p.Val461=) c.846G= (p.Val282=) c.1125G= (p.Val375=) c.-4294966123G= c.-4294965844G= c.1047G= (p.Val349=) | |
2 | g.232535186G>T | CA431809101 | CHRND | c.1428G>T (p.Val476=) c.*610G>T (n.*610G>T) c.*1069G>T (n.*1069G>T) c.1383G>T (p.Val461=) c.846G>T (p.Val282=) c.1125G>T (p.Val375=) c.-4294966123G>T c.-4294965844G>T c.1047G>T (p.Val349=) | |
2 | g.232535187G>A | CA351006002 | CHRND | c.1429G>A (p.Val477Met) c.*611G>A (n.*611G>A) c.*1070G>A (n.*1070G>A) c.1384G>A (p.Val462Met) c.847G>A (p.Val283Met) c.1126G>A (p.Val376Met) c.-4294966122G>A c.-4294965843G>A c.1048G>A (p.Val350Met) | gnomAD v4 |
2 | g.232535187G>C | CA351006000 | CHRND | c.1429G>C (p.Val477Leu) c.*611G>C (n.*611G>C) c.*1070G>C (n.*1070G>C) c.1384G>C (p.Val462Leu) c.847G>C (p.Val283Leu) c.1126G>C (p.Val376Leu) c.-4294966122G>C c.-4294965843G>C c.1048G>C (p.Val350Leu) | |
2 | g.232535187G>T | CA351006001 | CHRND | c.1429G>T (p.Val477Leu) c.*611G>T (n.*611G>T) c.*1070G>T (n.*1070G>T) c.1384G>T (p.Val462Leu) c.847G>T (p.Val283Leu) c.1126G>T (p.Val376Leu) c.-4294966122G>T c.-4294965843G>T c.1048G>T (p.Val350Leu) | |
2 | g.232535188T>A | CA351006003 | CHRND | c.1430T>A (p.Val477Glu) c.*612T>A (n.*612T>A) c.*1071T>A (n.*1071T>A) c.1385T>A (p.Val462Glu) c.848T>A (p.Val283Glu) c.1127T>A (p.Val376Glu) c.-4294966121T>A c.-4294965842T>A c.1049T>A (p.Val350Glu) | |
2 | g.232535188T>C | CA351006004 | CHRND | c.1430T>C (p.Val477Ala) c.*612T>C (n.*612T>C) c.*1071T>C (n.*1071T>C) c.1385T>C (p.Val462Ala) c.848T>C (p.Val283Ala) c.1127T>C (p.Val376Ala) c.-4294966121T>C c.-4294965842T>C c.1049T>C (p.Val350Ala) | |
2 | g.232535188T>G | CA351006005 | CHRND | c.1430T>G (p.Val477Gly) c.*612T>G (n.*612T>G) c.*1071T>G (n.*1071T>G) c.1385T>G (p.Val462Gly) c.848T>G (p.Val283Gly) c.1127T>G (p.Val376Gly) c.-4294966121T>G c.-4294965842T>G c.1049T>G (p.Val350Gly) | |
2 | g.232535189G>A | CA431809103 | CHRND | c.1431G>A (p.Val477=) c.*613G>A (n.*613G>A) c.*1072G>A (n.*1072G>A) c.1386G>A (p.Val462=) c.849G>A (p.Val283=) c.1128G>A (p.Val376=) c.-4294966120G>A c.-4294965841G>A c.1050G>A (p.Val350=) | |
2 | g.232535189G>C | CA431809104 | CHRND | c.1431G>C (p.Val477=) c.*613G>C (n.*613G>C) c.*1072G>C (n.*1072G>C) c.1386G>C (p.Val462=) c.849G>C (p.Val283=) c.1128G>C (p.Val376=) c.-4294966120G>C c.-4294965841G>C c.1050G>C (p.Val350=) | |
2 | g.232535189G>T | CA431809105 | CHRND | c.1431G>T (p.Val477=) c.*613G>T (n.*613G>T) c.*1072G>T (n.*1072G>T) c.1386G>T (p.Val462=) c.849G>T (p.Val283=) c.1128G>T (p.Val376=) c.-4294966120G>T c.-4294965841G>T c.1050G>T (p.Val350=) | |
2 | g.232535190A>C | CA351006006 | CHRND | c.1432A>C (p.Thr478Pro) c.*614A>C (n.*614A>C) c.*1073A>C (n.*1073A>C) c.1387A>C (p.Thr463Pro) c.850A>C (p.Thr284Pro) c.1129A>C (p.Thr377Pro) c.-4294966119A>C c.-4294965840A>C c.1051A>C (p.Thr351Pro) | |
2 | g.232535190A>G | CA351006007 | CHRND | c.1432A>G (p.Thr478Ala) c.*614A>G (n.*614A>G) c.*1073A>G (n.*1073A>G) c.1387A>G (p.Thr463Ala) c.850A>G (p.Thr284Ala) c.1129A>G (p.Thr377Ala) c.-4294966119A>G c.-4294965840A>G c.1051A>G (p.Thr351Ala) | |
2 | g.232535190A>T | CA351006008 | CHRND | c.1432A>T (p.Thr478Ser) c.*614A>T (n.*614A>T) c.*1073A>T (n.*1073A>T) c.1387A>T (p.Thr463Ser) c.850A>T (p.Thr284Ser) c.1129A>T (p.Thr377Ser) c.-4294966119A>T c.-4294965840A>T c.1051A>T (p.Thr351Ser) | |
2 | g.232535191C>A | CA351006009 | CHRND | c.1433C>A (p.Thr478Lys) c.*615C>A (n.*615C>A) c.*1074C>A (n.*1074C>A) c.1388C>A (p.Thr463Lys) c.851C>A (p.Thr284Lys) c.1130C>A (p.Thr377Lys) c.-4294966118C>A c.-4294965839C>A c.1052C>A (p.Thr351Lys) | |
2 | g.232535191C= | CA1335314494 | CHRND | c.1433C= (p.Thr478=) c.*615C= (n.*615C=) c.*1074C= (n.*1074C=) c.1388C= (p.Thr463=) c.851C= (p.Thr284=) c.1130C= (p.Thr377=) c.-4294966118C= c.-4294965839C= c.1052C= (p.Thr351=) | |
2 | g.232535191C>G | CA351006010 | CHRND | c.1433C>G (p.Thr478Arg) c.*615C>G (n.*615C>G) c.*1074C>G (n.*1074C>G) c.1388C>G (p.Thr463Arg) c.851C>G (p.Thr284Arg) c.1130C>G (p.Thr377Arg) c.-4294966118C>G c.-4294965839C>G c.1052C>G (p.Thr351Arg) | |
2 | g.232535191C>T | CA2168359 | CHRND | c.1433C>T (p.Thr478Met) c.*615C>T (n.*615C>T) c.*1074C>T (n.*1074C>T) c.1388C>T (p.Thr463Met) c.851C>T (p.Thr284Met) c.1130C>T (p.Thr377Met) c.-4294966118C>T c.-4294965839C>T c.1052C>T (p.Thr351Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535192G>A | CA2168360 | CHRND | c.1434G>A (p.Thr478=) c.*616G>A (n.*616G>A) c.*1075G>A (n.*1075G>A) c.1389G>A (p.Thr463=) c.852G>A (p.Thr284=) c.1131G>A (p.Thr377=) c.-4294966117G>A c.-4294965838G>A c.1053G>A (p.Thr351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535192G>C | CA431809106 | CHRND | c.1434G>C (p.Thr478=) c.*616G>C (n.*616G>C) c.*1075G>C (n.*1075G>C) c.1389G>C (p.Thr463=) c.852G>C (p.Thr284=) c.1131G>C (p.Thr377=) c.-4294966117G>C c.-4294965838G>C c.1053G>C (p.Thr351=) | |
2 | g.232535192G= | CA1335314495 | CHRND | c.1434G= (p.Thr478=) c.*616G= (n.*616G=) c.*1075G= (n.*1075G=) c.1389G= (p.Thr463=) c.852G= (p.Thr284=) c.1131G= (p.Thr377=) c.-4294966117G= c.-4294965838G= c.1053G= (p.Thr351=) | |
2 | g.232535192G>T | CA431809107 | CHRND | c.1434G>T (p.Thr478=) c.*616G>T (n.*616G>T) c.*1075G>T (n.*1075G>T) c.1389G>T (p.Thr463=) c.852G>T (p.Thr284=) c.1131G>T (p.Thr377=) c.-4294966117G>T c.-4294965838G>T c.1053G>T (p.Thr351=) | |
2 | g.232535193C>A | CA351006011 | CHRND | c.1435C>A (p.Pro479Thr) c.*617C>A (n.*617C>A) c.*1076C>A (n.*1076C>A) c.1390C>A (p.Pro464Thr) c.853C>A (p.Pro285Thr) c.1132C>A (p.Pro378Thr) c.-4294966116C>A c.-4294965837C>A c.1054C>A (p.Pro352Thr) | ClinVar gnomAD v4 |
2 | g.232535193C= | CA1335314496 | CHRND | c.1435C= (p.Pro479=) c.*617C= (n.*617C=) c.*1076C= (n.*1076C=) c.1390C= (p.Pro464=) c.853C= (p.Pro285=) c.1132C= (p.Pro378=) c.-4294966116C= c.-4294965837C= c.1054C= (p.Pro352=) | |
2 | g.232535193C>G | CA2168361 | CHRND | c.1435C>G (p.Pro479Ala) c.*617C>G (n.*617C>G) c.*1076C>G (n.*1076C>G) c.1390C>G (p.Pro464Ala) c.853C>G (p.Pro285Ala) c.1132C>G (p.Pro378Ala) c.-4294966116C>G c.-4294965837C>G c.1054C>G (p.Pro352Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535193C>T | CA351006012 | CHRND | c.1435C>T (p.Pro479Ser) c.*617C>T (n.*617C>T) c.*1076C>T (n.*1076C>T) c.1390C>T (p.Pro464Ser) c.853C>T (p.Pro285Ser) c.1132C>T (p.Pro378Ser) c.-4294966116C>T c.-4294965837C>T c.1054C>T (p.Pro352Ser) | |
2 | g.232535194C>A | CA351006015 | CHRND | c.1436C>A (p.Pro479His) c.*618C>A (n.*618C>A) c.*1077C>A (n.*1077C>A) c.1391C>A (p.Pro464His) c.854C>A (p.Pro285His) c.1133C>A (p.Pro378His) c.-4294966115C>A c.-4294965836C>A c.1055C>A (p.Pro352His) | |
2 | g.232535194C>G | CA351006013 | CHRND | c.1436C>G (p.Pro479Arg) c.*618C>G (n.*618C>G) c.*1077C>G (n.*1077C>G) c.1391C>G (p.Pro464Arg) c.854C>G (p.Pro285Arg) c.1133C>G (p.Pro378Arg) c.-4294966115C>G c.-4294965836C>G c.1055C>G (p.Pro352Arg) | ClinVar |
2 | g.232535194C>T | CA351006014 | CHRND | c.1436C>T (p.Pro479Leu) c.*618C>T (n.*618C>T) c.*1077C>T (n.*1077C>T) c.1391C>T (p.Pro464Leu) c.854C>T (p.Pro285Leu) c.1133C>T (p.Pro378Leu) c.-4294966115C>T c.-4294965836C>T c.1055C>T (p.Pro352Leu) | |
2 | g.232535195T>A | CA431809110 | CHRND | c.1437T>A (p.Pro479=) c.*619T>A (n.*619T>A) c.*1078T>A (n.*1078T>A) c.1392T>A (p.Pro464=) c.855T>A (p.Pro285=) c.1134T>A (p.Pro378=) c.-4294966114T>A c.-4294965835T>A c.1056T>A (p.Pro352=) | |
2 | g.232535195T>C | CA431809109 | CHRND | c.1437T>C (p.Pro479=) c.*619T>C (n.*619T>C) c.*1078T>C (n.*1078T>C) c.1392T>C (p.Pro464=) c.855T>C (p.Pro285=) c.1134T>C (p.Pro378=) c.-4294966114T>C c.-4294965835T>C c.1056T>C (p.Pro352=) | gnomAD v4 |
2 | g.232535195T>G | CA431809108 | CHRND | c.1437T>G (p.Pro479=) c.*619T>G (n.*619T>G) c.*1078T>G (n.*1078T>G) c.1392T>G (p.Pro464=) c.855T>G (p.Pro285=) c.1134T>G (p.Pro378=) c.-4294966114T>G c.-4294965835T>G c.1056T>G (p.Pro352=) | |
2 | g.232535196G>A | CA2168362 | CHRND | c.1438G>A (p.Val480Ile) c.*620G>A (n.*620G>A) c.*1079G>A (n.*1079G>A) c.1393G>A (p.Val465Ile) c.856G>A (p.Val286Ile) c.1135G>A (p.Val379Ile) c.-4294966113G>A c.-4294965834G>A c.1057G>A (p.Val353Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232535196G>C | CA351006016 | CHRND | c.1438G>C (p.Val480Leu) c.*620G>C (n.*620G>C) c.*1079G>C (n.*1079G>C) c.1393G>C (p.Val465Leu) c.856G>C (p.Val286Leu) c.1135G>C (p.Val379Leu) c.-4294966113G>C c.-4294965834G>C c.1057G>C (p.Val353Leu) | |
2 | g.232535196G= | CA1335314497 | CHRND | c.1438G= (p.Val480=) c.*620G= (n.*620G=) c.*1079G= (n.*1079G=) c.1393G= (p.Val465=) c.856G= (p.Val286=) c.1135G= (p.Val379=) c.-4294966113G= c.-4294965834G= c.1057G= (p.Val353=) | |
2 | g.232535196G>T | CA351006017 | CHRND | c.1438G>T (p.Val480Phe) c.*620G>T (n.*620G>T) c.*1079G>T (n.*1079G>T) c.1393G>T (p.Val465Phe) c.856G>T (p.Val286Phe) c.1135G>T (p.Val379Phe) c.-4294966113G>T c.-4294965834G>T c.1057G>T (p.Val353Phe) | |
2 | g.232535197T>A | CA351006018 | CHRND | c.1439T>A (p.Val480Asp) c.*621T>A (n.*621T>A) c.*1080T>A (n.*1080T>A) c.1394T>A (p.Val465Asp) c.857T>A (p.Val286Asp) c.1136T>A (p.Val379Asp) c.-4294966112T>A c.-4294965833T>A c.1058T>A (p.Val353Asp) | |
2 | g.232535197T>C | CA351006019 | CHRND | c.1439T>C (p.Val480Ala) c.*621T>C (n.*621T>C) c.*1080T>C (n.*1080T>C) c.1394T>C (p.Val465Ala) c.857T>C (p.Val286Ala) c.1136T>C (p.Val379Ala) c.-4294966112T>C c.-4294965833T>C c.1058T>C (p.Val353Ala) | dbSNP |
2 | g.232535197T>G | CA351006020 | CHRND | c.1439T>G (p.Val480Gly) c.*621T>G (n.*621T>G) c.*1080T>G (n.*1080T>G) c.1394T>G (p.Val465Gly) c.857T>G (p.Val286Gly) c.1136T>G (p.Val379Gly) c.-4294966112T>G c.-4294965833T>G c.1058T>G (p.Val353Gly) | |
2 | g.232535197T= | CA1335314498 | CHRND | c.1439T= (p.Val480=) c.*621T= (n.*621T=) c.*1080T= (n.*1080T=) c.1394T= (p.Val465=) c.857T= (p.Val286=) c.1136T= (p.Val379=) c.-4294966112T= c.-4294965833T= c.1058T= (p.Val353=) | |
2 | g.232535198C>A | CA431809113 | CHRND | c.1440C>A (p.Val480=) c.*622C>A (n.*622C>A) c.*1081C>A (n.*1081C>A) c.1395C>A (p.Val465=) c.858C>A (p.Val286=) c.1137C>A (p.Val379=) c.-4294966111C>A c.-4294965832C>A c.1059C>A (p.Val353=) | |
2 | g.232535198C= | CA1335314499 | CHRND | c.1440C= (p.Val480=) c.*622C= (n.*622C=) c.*1081C= (n.*1081C=) c.1395C= (p.Val465=) c.858C= (p.Val286=) c.1137C= (p.Val379=) c.-4294966111C= c.-4294965832C= c.1059C= (p.Val353=) | |
2 | g.232535198C>G | CA431809112 | CHRND | c.1440C>G (p.Val480=) c.*622C>G (n.*622C>G) c.*1081C>G (n.*1081C>G) c.1395C>G (p.Val465=) c.858C>G (p.Val286=) c.1137C>G (p.Val379=) c.-4294966111C>G c.-4294965832C>G c.1059C>G (p.Val353=) | |
2 | g.232535198C>T | CA431809111 | CHRND | c.1440C>T (p.Val480=) c.*622C>T (n.*622C>T) c.*1081C>T (n.*1081C>T) c.1395C>T (p.Val465=) c.858C>T (p.Val286=) c.1137C>T (p.Val379=) c.-4294966111C>T c.-4294965832C>T c.1059C>T (p.Val353=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232535199A>C | CA351006021 | CHRND | c.1441A>C (p.Met481Leu) c.*623A>C (n.*623A>C) c.*1082A>C (n.*1082A>C) c.1396A>C (p.Met466Leu) c.859A>C (p.Met287Leu) c.1138A>C (p.Met380Leu) c.-4294966110A>C c.-4294965831A>C c.1060A>C (p.Met354Leu) | |
2 | g.232535199A>G | CA351006022 | CHRND | c.1441A>G (p.Met481Val) c.*623A>G (n.*623A>G) c.*1082A>G (n.*1082A>G) c.1396A>G (p.Met466Val) c.859A>G (p.Met287Val) c.1138A>G (p.Met380Val) c.-4294966110A>G c.-4294965831A>G c.1060A>G (p.Met354Val) | gnomAD v4 |
2 | g.232535199A>T | CA351006023 | CHRND | c.1441A>T (p.Met481Leu) c.*623A>T (n.*623A>T) c.*1082A>T (n.*1082A>T) c.1396A>T (p.Met466Leu) c.859A>T (p.Met287Leu) c.1138A>T (p.Met380Leu) c.-4294966110A>T c.-4294965831A>T c.1060A>T (p.Met354Leu) | |
2 | g.232535199_232535201del | CA2573135631 | CHRND | c.1441_1443del (p.Met481del) c.*623_*625del (n.*623_*625del) c.*1082_*1084del (n.*1082_*1084del) c.1396_1398del (p.Met466del) c.859_861del (p.Met287del) c.1138_1140del (p.Met380del) c.-4294966110_-4294966108del c.-4294965831_-4294965829del c.1060_1062del (p.Met354del) | ClinVar dbSNP gnomAD v4 |
2 | g.232535200T>A | CA351006024 | CHRND | c.1442T>A (p.Met481Lys) c.*624T>A (n.*624T>A) c.*1083T>A (n.*1083T>A) c.1397T>A (p.Met466Lys) c.860T>A (p.Met287Lys) c.1139T>A (p.Met380Lys) c.-4294966109T>A c.-4294965830T>A c.1061T>A (p.Met354Lys) | |
2 | g.232535200T>C | CA2168363 | CHRND | c.1442T>C (p.Met481Thr) c.*624T>C (n.*624T>C) c.*1083T>C (n.*1083T>C) c.1397T>C (p.Met466Thr) c.860T>C (p.Met287Thr) c.1139T>C (p.Met380Thr) c.-4294966109T>C c.-4294965830T>C c.1061T>C (p.Met354Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535200T>G | CA351006025 | CHRND | c.1442T>G (p.Met481Arg) c.*624T>G (n.*624T>G) c.*1083T>G (n.*1083T>G) c.1397T>G (p.Met466Arg) c.860T>G (p.Met287Arg) c.1139T>G (p.Met380Arg) c.-4294966109T>G c.-4294965830T>G c.1061T>G (p.Met354Arg) | |
2 | g.232535200T= | CA1335314500 | CHRND | c.1442T= (p.Met481=) c.*624T= (n.*624T=) c.*1083T= (n.*1083T=) c.1397T= (p.Met466=) c.860T= (p.Met287=) c.1139T= (p.Met380=) c.-4294966109T= c.-4294965830T= c.1061T= (p.Met354=) | |
2 | g.232535206_232535208del | CA2580614110 | CHRND | c.1448_1450del (p.Val483del) c.*630_*632del (n.*630_*632del) c.*1089_*1091del (n.*1089_*1091del) c.1403_1405del (p.Val468del) c.866_868del (p.Val289del) c.1145_1147del (p.Val382del) c.-4294966103_-4294966101del c.-4294965824_-4294965822del c.1067_1069del (p.Val356del) | ClinVar |
2 | g.232535201G>A | CA351006026 | CHRND | c.1443G>A (p.Met481Ile) c.*625G>A (n.*625G>A) c.*1084G>A (n.*1084G>A) c.1398G>A (p.Met466Ile) c.861G>A (p.Met287Ile) c.1140G>A (p.Met380Ile) c.-4294966108G>A c.-4294965829G>A c.1062G>A (p.Met354Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535201G>C | CA351006028 | CHRND | c.1443G>C (p.Met481Ile) c.*625G>C (n.*625G>C) c.*1084G>C (n.*1084G>C) c.1398G>C (p.Met466Ile) c.861G>C (p.Met287Ile) c.1140G>C (p.Met380Ile) c.-4294966108G>C c.-4294965829G>C c.1062G>C (p.Met354Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.232535201G= | CA1335314501 | CHRND | c.1443G= (p.Met481=) c.*625G= (n.*625G=) c.*1084G= (n.*1084G=) c.1398G= (p.Met466=) c.861G= (p.Met287=) c.1140G= (p.Met380=) c.-4294966108G= c.-4294965829G= c.1062G= (p.Met354=) | |
2 | g.232535201G>T | CA351006027 | CHRND | c.1443G>T (p.Met481Ile) c.*625G>T (n.*625G>T) c.*1084G>T (n.*1084G>T) c.1398G>T (p.Met466Ile) c.861G>T (p.Met287Ile) c.1140G>T (p.Met380Ile) c.-4294966108G>T c.-4294965829G>T c.1062G>T (p.Met354Ile) | |
2 | g.232535202G>A | CA351006029 | CHRND | c.1444G>A (p.Val482Met) c.*626G>A (n.*626G>A) c.*1085G>A (n.*1085G>A) c.1399G>A (p.Val467Met) c.862G>A (p.Val288Met) c.1141G>A (p.Val381Met) c.-4294966107G>A c.-4294965828G>A c.1063G>A (p.Val355Met) | |
2 | g.232535202G>C | CA351006031 | CHRND | c.1444G>C (p.Val482Leu) c.*626G>C (n.*626G>C) c.*1085G>C (n.*1085G>C) c.1399G>C (p.Val467Leu) c.862G>C (p.Val288Leu) c.1141G>C (p.Val381Leu) c.-4294966107G>C c.-4294965828G>C c.1063G>C (p.Val355Leu) | ClinVar |
2 | g.232535202G>T | CA351006030 | CHRND | c.1444G>T (p.Val482Leu) c.*626G>T (n.*626G>T) c.*1085G>T (n.*1085G>T) c.1399G>T (p.Val467Leu) c.862G>T (p.Val288Leu) c.1141G>T (p.Val381Leu) c.-4294966107G>T c.-4294965828G>T c.1063G>T (p.Val355Leu) | |
2 | g.232535203T>A | CA351006032 | CHRND | c.1445T>A (p.Val482Glu) c.*627T>A (n.*627T>A) c.*1086T>A (n.*1086T>A) c.1400T>A (p.Val467Glu) c.863T>A (p.Val288Glu) c.1142T>A (p.Val381Glu) c.-4294966106T>A c.-4294965827T>A c.1064T>A (p.Val355Glu) | |
2 | g.232535203T>C | CA351006033 | CHRND | c.1445T>C (p.Val482Ala) c.*627T>C (n.*627T>C) c.*1086T>C (n.*1086T>C) c.1400T>C (p.Val467Ala) c.863T>C (p.Val288Ala) c.1142T>C (p.Val381Ala) c.-4294966106T>C c.-4294965827T>C c.1064T>C (p.Val355Ala) | gnomAD v4 |
2 | g.232535203T>G | CA351006034 | CHRND | c.1445T>G (p.Val482Gly) c.*627T>G (n.*627T>G) c.*1086T>G (n.*1086T>G) c.1400T>G (p.Val467Gly) c.863T>G (p.Val288Gly) c.1142T>G (p.Val381Gly) c.-4294966106T>G c.-4294965827T>G c.1064T>G (p.Val355Gly) | |
2 | g.232535204G>A | CA431809115 | CHRND | c.1446G>A (p.Val482=) c.*628G>A (n.*628G>A) c.*1087G>A (n.*1087G>A) c.1401G>A (p.Val467=) c.864G>A (p.Val288=) c.1143G>A (p.Val381=) c.-4294966105G>A c.-4294965826G>A c.1065G>A (p.Val355=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535204G>C | CA431809116 | CHRND | c.1446G>C (p.Val482=) c.*628G>C (n.*628G>C) c.*1087G>C (n.*1087G>C) c.1401G>C (p.Val467=) c.864G>C (p.Val288=) c.1143G>C (p.Val381=) c.-4294966105G>C c.-4294965826G>C c.1065G>C (p.Val355=) | |
2 | g.232535204G= | CA1335314502 | CHRND | c.1446G= (p.Val482=) c.*628G= (n.*628G=) c.*1087G= (n.*1087G=) c.1401G= (p.Val467=) c.864G= (p.Val288=) c.1143G= (p.Val381=) c.-4294966105G= c.-4294965826G= c.1065G= (p.Val355=) | |
2 | g.232535204G>T | CA431809117 | CHRND | c.1446G>T (p.Val482=) c.*628G>T (n.*628G>T) c.*1087G>T (n.*1087G>T) c.1401G>T (p.Val467=) c.864G>T (p.Val288=) c.1143G>T (p.Val381=) c.-4294966105G>T c.-4294965826G>T c.1065G>T (p.Val355=) | |
2 | g.232535205G>A | CA351006035 | CHRND | c.1447G>A (p.Val483Met) c.*629G>A (n.*629G>A) c.*1088G>A (n.*1088G>A) c.1402G>A (p.Val468Met) c.865G>A (p.Val289Met) c.1144G>A (p.Val382Met) c.-4294966104G>A c.-4294965825G>A c.1066G>A (p.Val356Met) | |
2 | g.232535205G>C | CA351006036 | CHRND | c.1447G>C (p.Val483Leu) c.*629G>C (n.*629G>C) c.*1088G>C (n.*1088G>C) c.1402G>C (p.Val468Leu) c.865G>C (p.Val289Leu) c.1144G>C (p.Val382Leu) c.-4294966104G>C c.-4294965825G>C c.1066G>C (p.Val356Leu) | |
2 | g.232535205G>T | CA351006037 | CHRND | c.1447G>T (p.Val483Leu) c.*629G>T (n.*629G>T) c.*1088G>T (n.*1088G>T) c.1402G>T (p.Val468Leu) c.865G>T (p.Val289Leu) c.1144G>T (p.Val382Leu) c.-4294966104G>T c.-4294965825G>T c.1066G>T (p.Val356Leu) | |
2 | g.232535206T>A | CA351006038 | CHRND | c.1448T>A (p.Val483Glu) c.*630T>A (n.*630T>A) c.*1089T>A (n.*1089T>A) c.1403T>A (p.Val468Glu) c.866T>A (p.Val289Glu) c.1145T>A (p.Val382Glu) c.-4294966103T>A c.-4294965824T>A c.1067T>A (p.Val356Glu) | |
2 | g.232535206T>C | CA351006039 | CHRND | c.1448T>C (p.Val483Ala) c.*630T>C (n.*630T>C) c.*1089T>C (n.*1089T>C) c.1403T>C (p.Val468Ala) c.866T>C (p.Val289Ala) c.1145T>C (p.Val382Ala) c.-4294966103T>C c.-4294965824T>C c.1067T>C (p.Val356Ala) | gnomAD v4 |
2 | g.232535206T>G | CA351006040 | CHRND | c.1448T>G (p.Val483Gly) c.*630T>G (n.*630T>G) c.*1089T>G (n.*1089T>G) c.1403T>G (p.Val468Gly) c.866T>G (p.Val289Gly) c.1145T>G (p.Val382Gly) c.-4294966103T>G c.-4294965824T>G c.1067T>G (p.Val356Gly) | dbSNP |
2 | g.232535206T= | CA1335314503 | CHRND | c.1448T= (p.Val483=) c.*630T= (n.*630T=) c.*1089T= (n.*1089T=) c.1403T= (p.Val468=) c.866T= (p.Val289=) c.1145T= (p.Val382=) c.-4294966103T= c.-4294965824T= c.1067T= (p.Val356=) | |
2 | g.232535207G>A | CA431809118 | CHRND | c.1449G>A (p.Val483=) c.*631G>A (n.*631G>A) c.*1090G>A (n.*1090G>A) c.1404G>A (p.Val468=) c.867G>A (p.Val289=) c.1146G>A (p.Val382=) c.-4294966102G>A c.-4294965823G>A c.1068G>A (p.Val356=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.232535207G>C | CA431809119 | CHRND | c.1449G>C (p.Val483=) c.*631G>C (n.*631G>C) c.*1090G>C (n.*1090G>C) c.1404G>C (p.Val468=) c.867G>C (p.Val289=) c.1146G>C (p.Val382=) c.-4294966102G>C c.-4294965823G>C c.1068G>C (p.Val356=) | |
2 | g.232535207G= | CA1335314504 | CHRND | c.1449G= (p.Val483=) c.*631G= (n.*631G=) c.*1090G= (n.*1090G=) c.1404G= (p.Val468=) c.867G= (p.Val289=) c.1146G= (p.Val382=) c.-4294966102G= c.-4294965823G= c.1068G= (p.Val356=) | |
2 | g.232535207G>T | CA431809120 | CHRND | c.1449G>T (p.Val483=) c.*631G>T (n.*631G>T) c.*1090G>T (n.*1090G>T) c.1404G>T (p.Val468=) c.867G>T (p.Val289=) c.1146G>T (p.Val382=) c.-4294966102G>T c.-4294965823G>T c.1068G>T (p.Val356=) | |
2 | g.232535208G>A | CA351006041 | CHRND | c.1450G>A (p.Gly484Ser) c.*632G>A (n.*632G>A) c.*1091G>A (n.*1091G>A) c.1405G>A (p.Gly469Ser) c.868G>A (p.Gly290Ser) c.1147G>A (p.Gly383Ser) c.-4294966101G>A c.-4294965822G>A c.1069G>A (p.Gly357Ser) | gnomAD v4 |
2 | g.232535208G>C | CA351006042 | CHRND | c.1450G>C (p.Gly484Arg) c.*632G>C (n.*632G>C) c.*1091G>C (n.*1091G>C) c.1405G>C (p.Gly469Arg) c.868G>C (p.Gly290Arg) c.1147G>C (p.Gly383Arg) c.-4294966101G>C c.-4294965822G>C c.1069G>C (p.Gly357Arg) | |
2 | g.232535208G>T | CA351006043 | CHRND | c.1450G>T (p.Gly484Cys) c.*632G>T (n.*632G>T) c.*1091G>T (n.*1091G>T) c.1405G>T (p.Gly469Cys) c.868G>T (p.Gly290Cys) c.1147G>T (p.Gly383Cys) c.-4294966101G>T c.-4294965822G>T c.1069G>T (p.Gly357Cys) | |
2 | g.232535209G>A | CA351006046 | CHRND | c.1451G>A (p.Gly484Asp) c.*633G>A (n.*633G>A) c.*1092G>A (n.*1092G>A) c.1406G>A (p.Gly469Asp) c.869G>A (p.Gly290Asp) c.1148G>A (p.Gly383Asp) c.-4294966100G>A c.-4294965821G>A c.1070G>A (p.Gly357Asp) | gnomAD v4 |
2 | g.232535209G>C | CA351006045 | CHRND | c.1451G>C (p.Gly484Ala) c.*633G>C (n.*633G>C) c.*1092G>C (n.*1092G>C) c.1406G>C (p.Gly469Ala) c.869G>C (p.Gly290Ala) c.1148G>C (p.Gly383Ala) c.-4294966100G>C c.-4294965821G>C c.1070G>C (p.Gly357Ala) | |
2 | g.232535209G>T | CA351006044 | CHRND | c.1451G>T (p.Gly484Val) c.*633G>T (n.*633G>T) c.*1092G>T (n.*1092G>T) c.1406G>T (p.Gly469Val) c.869G>T (p.Gly290Val) c.1148G>T (p.Gly383Val) c.-4294966100G>T c.-4294965821G>T c.1070G>T (p.Gly357Val) | |
2 | g.232535210C>A | CA431809121 | CHRND | c.1452C>A (p.Gly484=) c.*634C>A (n.*634C>A) c.*1093C>A (n.*1093C>A) c.1407C>A (p.Gly469=) c.870C>A (p.Gly290=) c.1149C>A (p.Gly383=) c.-4294966099C>A c.-4294965820C>A c.1071C>A (p.Gly357=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535210C= | CA1335314505 | CHRND | c.1452C= (p.Gly484=) c.*634C= (n.*634C=) c.*1093C= (n.*1093C=) c.1407C= (p.Gly469=) c.870C= (p.Gly290=) c.1149C= (p.Gly383=) c.-4294966099C= c.-4294965820C= c.1071C= (p.Gly357=) | |
2 | g.232535210C>G | CA431809122 | CHRND | c.1452C>G (p.Gly484=) c.*634C>G (n.*634C>G) c.*1093C>G (n.*1093C>G) c.1407C>G (p.Gly469=) c.870C>G (p.Gly290=) c.1149C>G (p.Gly383=) c.-4294966099C>G c.-4294965820C>G c.1071C>G (p.Gly357=) | |
2 | g.232535210C>T | CA431809123 | CHRND | c.1452C>T (p.Gly484=) c.*634C>T (n.*634C>T) c.*1093C>T (n.*1093C>T) c.1407C>T (p.Gly469=) c.870C>T (p.Gly290=) c.1149C>T (p.Gly383=) c.-4294966099C>T c.-4294965820C>T c.1071C>T (p.Gly357=) | gnomAD v4 |
2 | g.232535211A>C | CA351006047 | CHRND | c.1453A>C (p.Thr485Pro) c.*635A>C (n.*635A>C) c.*1094A>C (n.*1094A>C) c.1408A>C (p.Thr470Pro) c.871A>C (p.Thr291Pro) c.1150A>C (p.Thr384Pro) c.-4294966098A>C c.-4294965819A>C c.1072A>C (p.Thr358Pro) | |
2 | g.232535211A>G | CA351006048 | CHRND | c.1453A>G (p.Thr485Ala) c.*635A>G (n.*635A>G) c.*1094A>G (n.*1094A>G) c.1408A>G (p.Thr470Ala) c.871A>G (p.Thr291Ala) c.1150A>G (p.Thr384Ala) c.-4294966098A>G c.-4294965819A>G c.1072A>G (p.Thr358Ala) | |
2 | g.232535211A>T | CA351006049 | CHRND | c.1453A>T (p.Thr485Ser) c.*635A>T (n.*635A>T) c.*1094A>T (n.*1094A>T) c.1408A>T (p.Thr470Ser) c.871A>T (p.Thr291Ser) c.1150A>T (p.Thr384Ser) c.-4294966098A>T c.-4294965819A>T c.1072A>T (p.Thr358Ser) | |
2 | g.232535212C>A | CA351006050 | CHRND | c.1454C>A (p.Thr485Lys) c.*636C>A (n.*636C>A) c.*1095C>A (n.*1095C>A) c.1409C>A (p.Thr470Lys) c.872C>A (p.Thr291Lys) c.1151C>A (p.Thr384Lys) c.-4294966097C>A c.-4294965818C>A c.1073C>A (p.Thr358Lys) | |
2 | g.232535212C= | CA1335314506 | CHRND | c.1454C= (p.Thr485=) c.*636C= (n.*636C=) c.*1095C= (n.*1095C=) c.1409C= (p.Thr470=) c.872C= (p.Thr291=) c.1151C= (p.Thr384=) c.-4294966097C= c.-4294965818C= c.1073C= (p.Thr358=) | |
2 | g.232535212C>G | CA351006051 | CHRND | c.1454C>G (p.Thr485Arg) c.*636C>G (n.*636C>G) c.*1095C>G (n.*1095C>G) c.1409C>G (p.Thr470Arg) c.872C>G (p.Thr291Arg) c.1151C>G (p.Thr384Arg) c.-4294966097C>G c.-4294965818C>G c.1073C>G (p.Thr358Arg) | |
2 | g.232535212C>T | CA351006052 | CHRND | c.1454C>T (p.Thr485Ile) c.*636C>T (n.*636C>T) c.*1095C>T (n.*1095C>T) c.1409C>T (p.Thr470Ile) c.872C>T (p.Thr291Ile) c.1151C>T (p.Thr384Ile) c.-4294966097C>T c.-4294965818C>T c.1073C>T (p.Thr358Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535213A= | CA1335314507 | CHRND | c.1455A= (p.Thr485=) c.*637A= (n.*637A=) c.*1096A= (n.*1096A=) c.1410A= (p.Thr470=) c.873A= (p.Thr291=) c.1152A= (p.Thr384=) c.-4294966096A= c.-4294965817A= c.1074A= (p.Thr358=) | |
2 | g.232535213A>C | CA431809125 | CHRND | c.1455A>C (p.Thr485=) c.*637A>C (n.*637A>C) c.*1096A>C (n.*1096A>C) c.1410A>C (p.Thr470=) c.873A>C (p.Thr291=) c.1152A>C (p.Thr384=) c.-4294966096A>C c.-4294965817A>C c.1074A>C (p.Thr358=) | |
2 | g.232535213A>G | CA2168364 | CHRND | c.1455A>G (p.Thr485=) c.*637A>G (n.*637A>G) c.*1096A>G (n.*1096A>G) c.1410A>G (p.Thr470=) c.873A>G (p.Thr291=) c.1152A>G (p.Thr384=) c.-4294966096A>G c.-4294965817A>G c.1074A>G (p.Thr358=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232535213A>T | CA431809127 | CHRND | c.1455A>T (p.Thr485=) c.*637A>T (n.*637A>T) c.*1096A>T (n.*1096A>T) c.1410A>T (p.Thr470=) c.873A>T (p.Thr291=) c.1152A>T (p.Thr384=) c.-4294966096A>T c.-4294965817A>T c.1074A>T (p.Thr358=) | |
2 | g.232535214G>A | CA351006053 | CHRND | c.1456G>A (p.Ala486Thr) c.*638G>A (n.*638G>A) c.*1097G>A (n.*1097G>A) c.1411G>A (p.Ala471Thr) c.874G>A (p.Ala292Thr) c.1153G>A (p.Ala385Thr) c.-4294966095G>A c.-4294965816G>A c.1075G>A (p.Ala359Thr) | |
2 | g.232535214G>C | CA351006054 | CHRND | c.1456G>C (p.Ala486Pro) c.*638G>C (n.*638G>C) c.*1097G>C (n.*1097G>C) c.1411G>C (p.Ala471Pro) c.874G>C (p.Ala292Pro) c.1153G>C (p.Ala385Pro) c.-4294966095G>C c.-4294965816G>C c.1075G>C (p.Ala359Pro) | |
2 | g.232535214G>T | CA351006055 | CHRND | c.1456G>T (p.Ala486Ser) c.*638G>T (n.*638G>T) c.*1097G>T (n.*1097G>T) c.1411G>T (p.Ala471Ser) c.874G>T (p.Ala292Ser) c.1153G>T (p.Ala385Ser) c.-4294966095G>T c.-4294965816G>T c.1075G>T (p.Ala359Ser) | |
2 | g.232535215C>A | CA351006056 | CHRND | c.1457C>A (p.Ala486Asp) c.*639C>A (n.*639C>A) c.*1098C>A (n.*1098C>A) c.1412C>A (p.Ala471Asp) c.875C>A (p.Ala292Asp) c.1154C>A (p.Ala385Asp) c.-4294966094C>A c.-4294965815C>A c.1076C>A (p.Ala359Asp) | |
2 | g.232535215C>G | CA351006057 | CHRND | c.1457C>G (p.Ala486Gly) c.*639C>G (n.*639C>G) c.*1098C>G (n.*1098C>G) c.1412C>G (p.Ala471Gly) c.875C>G (p.Ala292Gly) c.1154C>G (p.Ala385Gly) c.-4294966094C>G c.-4294965815C>G c.1076C>G (p.Ala359Gly) | |
2 | g.232535215C>T | CA351006058 | CHRND | c.1457C>T (p.Ala486Val) c.*639C>T (n.*639C>T) c.*1098C>T (n.*1098C>T) c.1412C>T (p.Ala471Val) c.875C>T (p.Ala292Val) c.1154C>T (p.Ala385Val) c.-4294966094C>T c.-4294965815C>T c.1076C>T (p.Ala359Val) | |
2 | g.232535216C>A | CA431809129 | CHRND | c.1458C>A (p.Ala486=) c.*640C>A (n.*640C>A) c.*1099C>A (n.*1099C>A) c.1413C>A (p.Ala471=) c.876C>A (p.Ala292=) c.1155C>A (p.Ala385=) c.-4294966093C>A c.-4294965814C>A c.1077C>A (p.Ala359=) | |
2 | g.232535216C>G | CA431809131 | CHRND | c.1458C>G (p.Ala486=) c.*640C>G (n.*640C>G) c.*1099C>G (n.*1099C>G) c.1413C>G (p.Ala471=) c.876C>G (p.Ala292=) c.1155C>G (p.Ala385=) c.-4294966093C>G c.-4294965814C>G c.1077C>G (p.Ala359=) | |
2 | g.232535216C>T | CA431809130 | CHRND | c.1458C>T (p.Ala486=) c.*640C>T (n.*640C>T) c.*1099C>T (n.*1099C>T) c.1413C>T (p.Ala471=) c.876C>T (p.Ala292=) c.1155C>T (p.Ala385=) c.-4294966093C>T c.-4294965814C>T c.1077C>T (p.Ala359=) | |
2 | g.232535217T>A | CA351006060 | CHRND | c.1459T>A (p.Trp487Arg) c.*641T>A (n.*641T>A) c.*1100T>A (n.*1100T>A) c.1414T>A (p.Trp472Arg) c.877T>A (p.Trp293Arg) c.1156T>A (p.Trp386Arg) c.-4294966092T>A c.-4294965813T>A c.1078T>A (p.Trp360Arg) | |
2 | g.232535217T>C | CA351006061 | CHRND | c.1459T>C (p.Trp487Arg) c.*641T>C (n.*641T>C) c.*1100T>C (n.*1100T>C) c.1414T>C (p.Trp472Arg) c.877T>C (p.Trp293Arg) c.1156T>C (p.Trp386Arg) c.-4294966092T>C c.-4294965813T>C c.1078T>C (p.Trp360Arg) | |
2 | g.232535217T>G | CA351006059 | CHRND | c.1459T>G (p.Trp487Gly) c.*641T>G (n.*641T>G) c.*1100T>G (n.*1100T>G) c.1414T>G (p.Trp472Gly) c.877T>G (p.Trp293Gly) c.1156T>G (p.Trp386Gly) c.-4294966092T>G c.-4294965813T>G c.1078T>G (p.Trp360Gly) | |
2 | g.232535218G>A | CA351006062 | CHRND | c.1460G>A (p.Trp487Ter) c.*642G>A (n.*642G>A) c.*1101G>A (n.*1101G>A) c.1415G>A (p.Trp472Ter) c.878G>A (p.Trp293Ter) c.1157G>A (p.Trp386Ter) c.-4294966091G>A c.-4294965812G>A c.1079G>A (p.Trp360Ter) | |
2 | g.232535218G>C | CA351006063 | CHRND | c.1460G>C (p.Trp487Ser) c.*642G>C (n.*642G>C) c.*1101G>C (n.*1101G>C) c.1415G>C (p.Trp472Ser) c.878G>C (p.Trp293Ser) c.1157G>C (p.Trp386Ser) c.-4294966091G>C c.-4294965812G>C c.1079G>C (p.Trp360Ser) | |
2 | g.232535218G>T | CA351006064 | CHRND | c.1460G>T (p.Trp487Leu) c.*642G>T (n.*642G>T) c.*1101G>T (n.*1101G>T) c.1415G>T (p.Trp472Leu) c.878G>T (p.Trp293Leu) c.1157G>T (p.Trp386Leu) c.-4294966091G>T c.-4294965812G>T c.1079G>T (p.Trp360Leu) | gnomAD v4 |
2 | g.232535219G>A | CA351006065 | CHRND | c.1461G>A (p.Trp487Ter) c.*643G>A (n.*643G>A) c.*1102G>A (n.*1102G>A) c.1416G>A (p.Trp472Ter) c.879G>A (p.Trp293Ter) c.1158G>A (p.Trp386Ter) c.-4294966090G>A c.-4294965811G>A c.1080G>A (p.Trp360Ter) | |
2 | g.232535219G>C | CA351006066 | CHRND | c.1461G>C (p.Trp487Cys) c.*643G>C (n.*643G>C) c.*1102G>C (n.*1102G>C) c.1416G>C (p.Trp472Cys) c.879G>C (p.Trp293Cys) c.1158G>C (p.Trp386Cys) c.-4294966090G>C c.-4294965811G>C c.1080G>C (p.Trp360Cys) | |
2 | g.232535219G>T | CA351006067 | CHRND | c.1461G>T (p.Trp487Cys) c.*643G>T (n.*643G>T) c.*1102G>T (n.*1102G>T) c.1416G>T (p.Trp472Cys) c.879G>T (p.Trp293Cys) c.1158G>T (p.Trp386Cys) c.-4294966090G>T c.-4294965811G>T c.1080G>T (p.Trp360Cys) | gnomAD v4 |
2 | g.232535220A= | CA1335314508 | CHRND | c.1462A= (p.Ile488=) c.*644A= (n.*644A=) c.*1103A= (n.*1103A=) c.1417A= (p.Ile473=) c.880A= (p.Ile294=) c.1159A= (p.Ile387=) c.-4294966089A= c.-4294965810A= c.1081A= (p.Ile361=) | |
2 | g.232535220A>C | CA351006068 | CHRND | c.1462A>C (p.Ile488Leu) c.*644A>C (n.*644A>C) c.*1103A>C (n.*1103A>C) c.1417A>C (p.Ile473Leu) c.880A>C (p.Ile294Leu) c.1159A>C (p.Ile387Leu) c.-4294966089A>C c.-4294965810A>C c.1081A>C (p.Ile361Leu) | |
2 | g.232535220A>G | CA351006069 | CHRND | c.1462A>G (p.Ile488Val) c.*644A>G (n.*644A>G) c.*1103A>G (n.*1103A>G) c.1417A>G (p.Ile473Val) c.880A>G (p.Ile294Val) c.1159A>G (p.Ile387Val) c.-4294966089A>G c.-4294965810A>G c.1081A>G (p.Ile361Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.232535220A>T | CA351006070 | CHRND | c.1462A>T (p.Ile488Phe) c.*644A>T (n.*644A>T) c.*1103A>T (n.*1103A>T) c.1417A>T (p.Ile473Phe) c.880A>T (p.Ile294Phe) c.1159A>T (p.Ile387Phe) c.-4294966089A>T c.-4294965810A>T c.1081A>T (p.Ile361Phe) | |
2 | g.232535221T>A | CA351006071 | CHRND | c.1463T>A (p.Ile488Asn) c.*645T>A (n.*645T>A) c.*1104T>A (n.*1104T>A) c.1418T>A (p.Ile473Asn) c.881T>A (p.Ile294Asn) c.1160T>A (p.Ile387Asn) c.-4294966088T>A c.-4294965809T>A c.1082T>A (p.Ile361Asn) | |
2 | g.232535221T>C | CA351006072 | CHRND | c.1463T>C (p.Ile488Thr) c.*645T>C (n.*645T>C) c.*1104T>C (n.*1104T>C) c.1418T>C (p.Ile473Thr) c.881T>C (p.Ile294Thr) c.1160T>C (p.Ile387Thr) c.-4294966088T>C c.-4294965809T>C c.1082T>C (p.Ile361Thr) | |
2 | g.232535221T>G | CA351006073 | CHRND | c.1463T>G (p.Ile488Ser) c.*645T>G (n.*645T>G) c.*1104T>G (n.*1104T>G) c.1418T>G (p.Ile473Ser) c.881T>G (p.Ile294Ser) c.1160T>G (p.Ile387Ser) c.-4294966088T>G c.-4294965809T>G c.1082T>G (p.Ile361Ser) | |
2 | g.232535222C>A | CA431809132 | CHRND | c.1464C>A (p.Ile488=) c.*646C>A (n.*646C>A) c.*1105C>A (n.*1105C>A) c.1419C>A (p.Ile473=) c.882C>A (p.Ile294=) c.1161C>A (p.Ile387=) c.-4294966087C>A c.-4294965808C>A c.1083C>A (p.Ile361=) | |
2 | g.232535222C>G | CA351006074 | CHRND | c.1464C>G (p.Ile488Met) c.*646C>G (n.*646C>G) c.*1105C>G (n.*1105C>G) c.1419C>G (p.Ile473Met) c.882C>G (p.Ile294Met) c.1161C>G (p.Ile387Met) c.-4294966087C>G c.-4294965808C>G c.1083C>G (p.Ile361Met) | |
2 | g.232535222C>T | CA431809134 | CHRND | c.1464C>T (p.Ile488=) c.*646C>T (n.*646C>T) c.*1105C>T (n.*1105C>T) c.1419C>T (p.Ile473=) c.882C>T (p.Ile294=) c.1161C>T (p.Ile387=) c.-4294966087C>T c.-4294965808C>T c.1083C>T (p.Ile361=) | |
2 | g.232535223T>A | CA351006075 | CHRND | c.1465T>A (p.Phe489Ile) c.*647T>A (n.*647T>A) c.*1106T>A (n.*1106T>A) c.1420T>A (p.Phe474Ile) c.883T>A (p.Phe295Ile) c.1162T>A (p.Phe388Ile) c.-4294966086T>A c.-4294965807T>A c.1084T>A (p.Phe362Ile) | |
2 | g.232535223T>C | CA351006077 | CHRND | c.1465T>C (p.Phe489Leu) c.*647T>C (n.*647T>C) c.*1106T>C (n.*1106T>C) c.1420T>C (p.Phe474Leu) c.883T>C (p.Phe295Leu) c.1162T>C (p.Phe388Leu) c.-4294966086T>C c.-4294965807T>C c.1084T>C (p.Phe362Leu) | |
2 | g.232535223T>G | CA351006076 | CHRND | c.1465T>G (p.Phe489Val) c.*647T>G (n.*647T>G) c.*1106T>G (n.*1106T>G) c.1420T>G (p.Phe474Val) c.883T>G (p.Phe295Val) c.1162T>G (p.Phe388Val) c.-4294966086T>G c.-4294965807T>G c.1084T>G (p.Phe362Val) | |
2 | g.232535224T>A | CA351006078 | CHRND | c.1466T>A (p.Phe489Tyr) c.*648T>A (n.*648T>A) c.*1107T>A (n.*1107T>A) c.1421T>A (p.Phe474Tyr) c.884T>A (p.Phe295Tyr) c.1163T>A (p.Phe388Tyr) c.-4294966085T>A c.-4294965806T>A c.1085T>A (p.Phe362Tyr) | |
2 | g.232535224T>C | CA351006079 | CHRND | c.1466T>C (p.Phe489Ser) c.*648T>C (n.*648T>C) c.*1107T>C (n.*1107T>C) c.1421T>C (p.Phe474Ser) c.884T>C (p.Phe295Ser) c.1163T>C (p.Phe388Ser) c.-4294966085T>C c.-4294965806T>C c.1085T>C (p.Phe362Ser) | |
2 | g.232535224T>G | CA351006080 | CHRND | c.1466T>G (p.Phe489Cys) c.*648T>G (n.*648T>G) c.*1107T>G (n.*1107T>G) c.1421T>G (p.Phe474Cys) c.884T>G (p.Phe295Cys) c.1163T>G (p.Phe388Cys) c.-4294966085T>G c.-4294965806T>G c.1085T>G (p.Phe362Cys) | |
2 | g.232535225C>A | CA351006081 | CHRND | c.1467C>A (p.Phe489Leu) c.*649C>A (n.*649C>A) c.*1108C>A (n.*1108C>A) c.1422C>A (p.Phe474Leu) c.885C>A (p.Phe295Leu) c.1164C>A (p.Phe388Leu) c.-4294966084C>A c.-4294965805C>A c.1086C>A (p.Phe362Leu) | |
2 | g.232535225C>G | CA351006082 | CHRND | c.1467C>G (p.Phe489Leu) c.*649C>G (n.*649C>G) c.*1108C>G (n.*1108C>G) c.1422C>G (p.Phe474Leu) c.885C>G (p.Phe295Leu) c.1164C>G (p.Phe388Leu) c.-4294966084C>G c.-4294965805C>G c.1086C>G (p.Phe362Leu) | |
2 | g.232535225C>T | CA431809138 | CHRND | c.1467C>T (p.Phe489=) c.*649C>T (n.*649C>T) c.*1108C>T (n.*1108C>T) c.1422C>T (p.Phe474=) c.885C>T (p.Phe295=) c.1164C>T (p.Phe388=) c.-4294966084C>T c.-4294965805C>T c.1086C>T (p.Phe362=) | |
2 | g.232535226C>A | CA351006083 | CHRND | c.1468C>A (p.Leu490Met) c.*650C>A (n.*650C>A) c.*1109C>A (n.*1109C>A) c.1423C>A (p.Leu475Met) c.886C>A (p.Leu296Met) c.1165C>A (p.Leu389Met) c.-4294966083C>A c.-4294965804C>A c.1087C>A (p.Leu363Met) | |
2 | g.232535226C= | CA1335314509 | CHRND | c.1468C= (p.Leu490=) c.*650C= (n.*650C=) c.*1109C= (n.*1109C=) c.1423C= (p.Leu475=) c.886C= (p.Leu296=) c.1165C= (p.Leu389=) c.-4294966083C= c.-4294965804C= c.1087C= (p.Leu363=) | |
2 | g.232535226C>G | CA351006084 | CHRND | c.1468C>G (p.Leu490Val) c.*650C>G (n.*650C>G) c.*1109C>G (n.*1109C>G) c.1423C>G (p.Leu475Val) c.886C>G (p.Leu296Val) c.1165C>G (p.Leu389Val) c.-4294966083C>G c.-4294965804C>G c.1087C>G (p.Leu363Val) | |
2 | g.232535226C>T | CA431809139 | CHRND | c.1468C>T (p.Leu490=) c.*650C>T (n.*650C>T) c.*1109C>T (n.*1109C>T) c.1423C>T (p.Leu475=) c.886C>T (p.Leu296=) c.1165C>T (p.Leu389=) c.-4294966083C>T c.-4294965804C>T c.1087C>T (p.Leu363=) | dbSNP |
2 | g.232535227T>A | CA351006085 | CHRND | c.1469T>A (p.Leu490Gln) c.*651T>A (n.*651T>A) c.*1110T>A (n.*1110T>A) c.1424T>A (p.Leu475Gln) c.887T>A (p.Leu296Gln) c.1166T>A (p.Leu389Gln) c.-4294966082T>A c.-4294965803T>A c.1088T>A (p.Leu363Gln) | |
2 | g.232535227T>C | CA351006086 | CHRND | c.1469T>C (p.Leu490Pro) c.*651T>C (n.*651T>C) c.*1110T>C (n.*1110T>C) c.1424T>C (p.Leu475Pro) c.887T>C (p.Leu296Pro) c.1166T>C (p.Leu389Pro) c.-4294966082T>C c.-4294965803T>C c.1088T>C (p.Leu363Pro) | |
2 | g.232535227T>G | CA351006087 | CHRND | c.1469T>G (p.Leu490Arg) c.*651T>G (n.*651T>G) c.*1110T>G (n.*1110T>G) c.1424T>G (p.Leu475Arg) c.887T>G (p.Leu296Arg) c.1166T>G (p.Leu389Arg) c.-4294966082T>G c.-4294965803T>G c.1088T>G (p.Leu363Arg) | |
2 | g.232535228G>A | CA431809140 | CHRND | c.1470G>A (p.Leu490=) c.*652G>A (n.*652G>A) c.*1111G>A (n.*1111G>A) c.1425G>A (p.Leu475=) c.888G>A (p.Leu296=) c.1167G>A (p.Leu389=) c.-4294966081G>A c.-4294965802G>A c.1089G>A (p.Leu363=) | gnomAD v4 |
2 | g.232535228G>C | CA431809142 | CHRND | c.1470G>C (p.Leu490=) c.*652G>C (n.*652G>C) c.*1111G>C (n.*1111G>C) c.1425G>C (p.Leu475=) c.888G>C (p.Leu296=) c.1167G>C (p.Leu389=) c.-4294966081G>C c.-4294965802G>C c.1089G>C (p.Leu363=) | |
2 | g.232535228G>T | CA431809145 | CHRND | c.1470G>T (p.Leu490=) c.*652G>T (n.*652G>T) c.*1111G>T (n.*1111G>T) c.1425G>T (p.Leu475=) c.888G>T (p.Leu296=) c.1167G>T (p.Leu389=) c.-4294966081G>T c.-4294965802G>T c.1089G>T (p.Leu363=) | |
2 | g.232535229C>A | CA351006089 | CHRND | c.1471C>A (p.Gln491Lys) c.*653C>A (n.*653C>A) c.*1112C>A (n.*1112C>A) c.1426C>A (p.Gln476Lys) c.889C>A (p.Gln297Lys) c.1168C>A (p.Gln390Lys) c.-4294966080C>A c.-4294965801C>A c.1090C>A (p.Gln364Lys) | gnomAD v4 |
2 | g.232535229C>G | CA351006090 | CHRND | c.1471C>G (p.Gln491Glu) c.*653C>G (n.*653C>G) c.*1112C>G (n.*1112C>G) c.1426C>G (p.Gln476Glu) c.889C>G (p.Gln297Glu) c.1168C>G (p.Gln390Glu) c.-4294966080C>G c.-4294965801C>G c.1090C>G (p.Gln364Glu) | |
2 | g.232535229C>T | CA351006088 | CHRND | c.1471C>T (p.Gln491Ter) c.*653C>T (n.*653C>T) c.*1112C>T (n.*1112C>T) c.1426C>T (p.Gln476Ter) c.889C>T (p.Gln297Ter) c.1168C>T (p.Gln390Ter) c.-4294966080C>T c.-4294965801C>T c.1090C>T (p.Gln364Ter) | |
2 | g.232535229_232535230delinsCA | CA1335314510 | CHRND | c.1471_1472delinsCA (p.Gln491=) c.*653_*654delinsCA (n.*653_*654delinsCA) c.*1112_*1113delinsCA (n.*1112_*1113delinsCA) c.1426_1427delinsCA (p.Gln476=) c.889_890delinsCA (p.Gln297=) c.1168_1169delinsCA (p.Gln390=) c.-4294966080_-4294966079delinsCA c.-4294965801_-4294965800delinsCA c.1090_1091delinsCA (p.Gln364=) | |
2 | g.232535230del | CA2168365 | CHRND | c.1472del (p.Gln491ArgfsTer?) c.*654del (n.*654del) c.*1113del (n.*1113del) c.1427del (p.Gln476ArgfsTer?) c.890del (p.Gln297ArgfsTer?) c.1169del (p.Gln390ArgfsTer?) c.-4294966079del c.-4294965800del c.1091del (p.Gln364ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.232535230A>C | CA351006091 | CHRND | c.1472A>C (p.Gln491Pro) c.*654A>C (n.*654A>C) c.*1113A>C (n.*1113A>C) c.1427A>C (p.Gln476Pro) c.890A>C (p.Gln297Pro) c.1169A>C (p.Gln390Pro) c.-4294966079A>C c.-4294965800A>C c.1091A>C (p.Gln364Pro) | gnomAD v4 |
2 | g.232535230A>G | CA351006092 | CHRND | c.1472A>G (p.Gln491Arg) c.*654A>G (n.*654A>G) c.*1113A>G (n.*1113A>G) c.1427A>G (p.Gln476Arg) c.890A>G (p.Gln297Arg) c.1169A>G (p.Gln390Arg) c.-4294966079A>G c.-4294965800A>G c.1091A>G (p.Gln364Arg) | gnomAD v4 |
2 | g.232535230A>T | CA351006093 | CHRND | c.1472A>T (p.Gln491Leu) c.*654A>T (n.*654A>T) c.*1113A>T (n.*1113A>T) c.1427A>T (p.Gln476Leu) c.890A>T (p.Gln297Leu) c.1169A>T (p.Gln390Leu) c.-4294966079A>T c.-4294965800A>T c.1091A>T (p.Gln364Leu) | |
2 | g.232535231G>A | CA431809148 | CHRND | c.1473G>A (p.Gln491=) c.*655G>A (n.*655G>A) c.*1114G>A (n.*1114G>A) c.1428G>A (p.Gln476=) c.891G>A (p.Gln297=) c.1170G>A (p.Gln390=) c.-4294966078G>A c.-4294965799G>A c.1092G>A (p.Gln364=) | gnomAD v4 |
2 | g.232535231G>C | CA351006094 | CHRND | c.1473G>C (p.Gln491His) c.*655G>C (n.*655G>C) c.*1114G>C (n.*1114G>C) c.1428G>C (p.Gln476His) c.891G>C (p.Gln297His) c.1170G>C (p.Gln390His) c.-4294966078G>C c.-4294965799G>C c.1092G>C (p.Gln364His) | |
2 | g.232535231G= | CA1335314511 | CHRND | c.1473G= (p.Gln491=) c.*655G= (n.*655G=) c.*1114G= (n.*1114G=) c.1428G= (p.Gln476=) c.891G= (p.Gln297=) c.1170G= (p.Gln390=) c.-4294966078G= c.-4294965799G= c.1092G= (p.Gln364=) | |
2 | g.232535231G>T | CA10613115 | CHRND | c.1473G>T (p.Gln491His) c.*655G>T (n.*655G>T) c.*1114G>T (n.*1114G>T) c.1428G>T (p.Gln476His) c.891G>T (p.Gln297His) c.1170G>T (p.Gln390His) c.-4294966078G>T c.-4294965799G>T c.1092G>T (p.Gln364His) | ClinVar dbSNP |
2 | g.232535232G>A | CA351006095 | CHRND | c.1474G>A (p.Gly492Ser) c.*656G>A (n.*656G>A) c.*1115G>A (n.*1115G>A) c.1429G>A (p.Gly477Ser) c.892G>A (p.Gly298Ser) c.1171G>A (p.Gly391Ser) c.-4294966077G>A c.-4294965798G>A c.1093G>A (p.Gly365Ser) | |
2 | g.232535232G>C | CA351006096 | CHRND | c.1474G>C (p.Gly492Arg) c.*656G>C (n.*656G>C) c.*1115G>C (n.*1115G>C) c.1429G>C (p.Gly477Arg) c.892G>C (p.Gly298Arg) c.1171G>C (p.Gly391Arg) c.-4294966077G>C c.-4294965798G>C c.1093G>C (p.Gly365Arg) | |
2 | g.232535232G>T | CA351006097 | CHRND | c.1474G>T (p.Gly492Cys) c.*656G>T (n.*656G>T) c.*1115G>T (n.*1115G>T) c.1429G>T (p.Gly477Cys) c.892G>T (p.Gly298Cys) c.1171G>T (p.Gly391Cys) c.-4294966077G>T c.-4294965798G>T c.1093G>T (p.Gly365Cys) |