Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.71712645T>A | CA2739275794 | C10orf105,CDH23 | c.3221-20T>A (n.3221-20T>A) c.*3291A>T (n.*3291A>T) c.2652-20T>A c.3236-20T>A (n.3236-20T>A) n.42T>A c.1996-20T>A c.3416-20T>A (n.3416-20T>A) c.3350-20T>A (n.3350-20T>A) c.3410-20T>A (n.3410-20T>A) c.3356-20T>A (n.3356-20T>A) c.3281-20T>A (n.3281-20T>A) c.2876-20T>A (n.2876-20T>A) c.2234-20T>A (n.2234-20T>A) n.3659-20T>A | ClinVar |
10 | g.71712645T>C | CA653386128 | C10orf105,CDH23 | c.3221-20T>C (n.3221-20T>C) c.*3291A>G (n.*3291A>G) c.2652-20T>C c.3236-20T>C (n.3236-20T>C) n.42T>C c.1996-20T>C c.3416-20T>C (n.3416-20T>C) c.3350-20T>C (n.3350-20T>C) c.3410-20T>C (n.3410-20T>C) c.3356-20T>C (n.3356-20T>C) c.3281-20T>C (n.3281-20T>C) c.2876-20T>C (n.2876-20T>C) c.2234-20T>C (n.2234-20T>C) n.3659-20T>C | gnomAD v4 COSMIC |
10 | g.71712649C= | CA1918844304 | C10orf105,CDH23 | c.3221-16C= (n.3221-16C=) c.*3287G= (n.*3287G=) c.2652-16C= c.3236-16C= (n.3236-16C=) n.46C= c.1996-16C= c.3416-16C= (n.3416-16C=) c.3350-16C= (n.3350-16C=) c.3410-16C= (n.3410-16C=) c.3356-16C= (n.3356-16C=) c.3281-16C= (n.3281-16C=) c.2876-16C= (n.2876-16C=) c.2234-16C= (n.2234-16C=) n.3659-16C= | |
10 | g.71712649C>T | CA929780624 | C10orf105,CDH23 | c.3221-16C>T (n.3221-16C>T) c.*3287G>A (n.*3287G>A) c.2652-16C>T c.3236-16C>T (n.3236-16C>T) n.46C>T c.1996-16C>T c.3416-16C>T (n.3416-16C>T) c.3350-16C>T (n.3350-16C>T) c.3410-16C>T (n.3410-16C>T) c.3356-16C>T (n.3356-16C>T) c.3281-16C>T (n.3281-16C>T) c.2876-16C>T (n.2876-16C>T) c.2234-16C>T (n.2234-16C>T) n.3659-16C>T | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712654A= | CA1918844306 | C10orf105,CDH23 | c.3221-11A= (n.3221-11A=) c.*3282T= (n.*3282T=) c.2652-11A= c.3236-11A= (n.3236-11A=) n.51A= c.1996-11A= c.3416-11A= (n.3416-11A=) c.3350-11A= (n.3350-11A=) c.3410-11A= (n.3410-11A=) c.3356-11A= (n.3356-11A=) c.3281-11A= (n.3281-11A=) c.2876-11A= (n.2876-11A=) c.2234-11A= (n.2234-11A=) n.3659-11A= | |
10 | g.71712654A>C | CA1918844307 | C10orf105,CDH23 | c.3221-11A>C (n.3221-11A>C) c.*3282T>G (n.*3282T>G) c.2652-11A>C c.3236-11A>C (n.3236-11A>C) n.51A>C c.1996-11A>C c.3416-11A>C (n.3416-11A>C) c.3350-11A>C (n.3350-11A>C) c.3410-11A>C (n.3410-11A>C) c.3356-11A>C (n.3356-11A>C) c.3281-11A>C (n.3281-11A>C) c.2876-11A>C (n.2876-11A>C) c.2234-11A>C (n.2234-11A>C) n.3659-11A>C | dbSNP gnomAD v4 |
10 | g.71712656C= | CA1918844309 | C10orf105,CDH23 | c.3221-9C= (n.3221-9C=) c.*3280G= (n.*3280G=) c.2652-9C= c.3236-9C= (n.3236-9C=) n.53C= c.1996-9C= c.3416-9C= (n.3416-9C=) c.3350-9C= (n.3350-9C=) c.3410-9C= (n.3410-9C=) c.3356-9C= (n.3356-9C=) c.3281-9C= (n.3281-9C=) c.2876-9C= (n.2876-9C=) c.2234-9C= (n.2234-9C=) n.3659-9C= | |
10 | g.71712656C>T | CA668081374 | C10orf105,CDH23 | c.3221-9C>T (n.3221-9C>T) c.*3280G>A (n.*3280G>A) c.2652-9C>T c.3236-9C>T (n.3236-9C>T) n.53C>T c.1996-9C>T c.3416-9C>T (n.3416-9C>T) c.3350-9C>T (n.3350-9C>T) c.3410-9C>T (n.3410-9C>T) c.3356-9C>T (n.3356-9C>T) c.3281-9C>T (n.3281-9C>T) c.2876-9C>T (n.2876-9C>T) c.2234-9C>T (n.2234-9C>T) n.3659-9C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712657T>A | CA2788479659 | C10orf105,CDH23 | c.3221-8T>A (n.3221-8T>A) c.*3279A>T (n.*3279A>T) c.2652-8T>A c.3236-8T>A (n.3236-8T>A) n.54T>A c.1996-8T>A c.3416-8T>A (n.3416-8T>A) c.3350-8T>A (n.3350-8T>A) c.3410-8T>A (n.3410-8T>A) c.3356-8T>A (n.3356-8T>A) c.3281-8T>A (n.3281-8T>A) c.2876-8T>A (n.2876-8T>A) c.2234-8T>A (n.2234-8T>A) n.3659-8T>A | |
10 | g.71712658C>A | CA5544530 | C10orf105,CDH23 | c.3221-7C>A (n.3221-7C>A) c.*3278G>T (n.*3278G>T) c.2652-7C>A c.3236-7C>A (n.3236-7C>A) n.55C>A c.1996-7C>A c.3416-7C>A (n.3416-7C>A) c.3350-7C>A (n.3350-7C>A) c.3410-7C>A (n.3410-7C>A) c.3356-7C>A (n.3356-7C>A) c.3281-7C>A (n.3281-7C>A) c.2876-7C>A (n.2876-7C>A) c.2234-7C>A (n.2234-7C>A) n.3659-7C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712658C= | CA1918844312 | C10orf105,CDH23 | c.3221-7C= (n.3221-7C=) c.*3278G= (n.*3278G=) c.2652-7C= c.3236-7C= (n.3236-7C=) n.55C= c.1996-7C= c.3416-7C= (n.3416-7C=) c.3350-7C= (n.3350-7C=) c.3410-7C= (n.3410-7C=) c.3356-7C= (n.3356-7C=) c.3281-7C= (n.3281-7C=) c.2876-7C= (n.2876-7C=) c.2234-7C= (n.2234-7C=) n.3659-7C= | |
10 | g.71712658C>G | CA2580081810 | C10orf105,CDH23 | c.3221-7C>G (n.3221-7C>G) c.*3278G>C (n.*3278G>C) c.2652-7C>G c.3236-7C>G (n.3236-7C>G) n.55C>G c.1996-7C>G c.3416-7C>G (n.3416-7C>G) c.3350-7C>G (n.3350-7C>G) c.3410-7C>G (n.3410-7C>G) c.3356-7C>G (n.3356-7C>G) c.3281-7C>G (n.3281-7C>G) c.2876-7C>G (n.2876-7C>G) c.2234-7C>G (n.2234-7C>G) n.3659-7C>G | ClinVar |
10 | g.71712658C>T | CA5544529 | C10orf105,CDH23 | c.3221-7C>T (n.3221-7C>T) c.*3278G>A (n.*3278G>A) c.2652-7C>T c.3236-7C>T (n.3236-7C>T) n.55C>T c.1996-7C>T c.3416-7C>T (n.3416-7C>T) c.3350-7C>T (n.3350-7C>T) c.3410-7C>T (n.3410-7C>T) c.3356-7C>T (n.3356-7C>T) c.3281-7C>T (n.3281-7C>T) c.2876-7C>T (n.2876-7C>T) c.2234-7C>T (n.2234-7C>T) n.3659-7C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712660del | CA2609572107 | C10orf105,CDH23 | c.3221-5del (n.3221-5del) c.*3278del (n.*3278del) c.2652-5del c.3236-5del (n.3236-5del) n.57del c.1996-5del c.3416-5del (n.3416-5del) c.3350-5del (n.3350-5del) c.3410-5del (n.3410-5del) c.3356-5del (n.3356-5del) c.3281-5del (n.3281-5del) c.2876-5del (n.2876-5del) c.2234-5del (n.2234-5del) n.3659-5del | gnomAD v4 |
10 | g.71712659C= | CA1918844313 | C10orf105,CDH23 | c.3221-6C= (n.3221-6C=) c.*3277G= (n.*3277G=) c.2652-6C= c.3236-6C= (n.3236-6C=) n.56C= c.1996-6C= c.3416-6C= (n.3416-6C=) c.3350-6C= (n.3350-6C=) c.3410-6C= (n.3410-6C=) c.3356-6C= (n.3356-6C=) c.3281-6C= (n.3281-6C=) c.2876-6C= (n.2876-6C=) c.2234-6C= (n.2234-6C=) n.3659-6C= | |
10 | g.71712659C>T | CA1918844314 | C10orf105,CDH23 | c.3221-6C>T (n.3221-6C>T) c.*3277G>A (n.*3277G>A) c.2652-6C>T c.3236-6C>T (n.3236-6C>T) n.56C>T c.1996-6C>T c.3416-6C>T (n.3416-6C>T) c.3350-6C>T (n.3350-6C>T) c.3410-6C>T (n.3410-6C>T) c.3356-6C>T (n.3356-6C>T) c.3281-6C>T (n.3281-6C>T) c.2876-6C>T (n.2876-6C>T) c.2234-6C>T (n.2234-6C>T) n.3659-6C>T | dbSNP |
10 | g.71712661A= | CA1918844316 | C10orf105,CDH23 | c.3221-4A= (n.3221-4A=) c.*3275T= (n.*3275T=) c.2652-4A= c.3236-4A= (n.3236-4A=) n.58A= c.1996-4A= c.3416-4A= (n.3416-4A=) c.3350-4A= (n.3350-4A=) c.3410-4A= (n.3410-4A=) c.3356-4A= (n.3356-4A=) c.3281-4A= (n.3281-4A=) c.2876-4A= (n.2876-4A=) c.2234-4A= (n.2234-4A=) n.3659-4A= | |
10 | g.71712661A>T | CA209465060 | C10orf105,CDH23 | c.3221-4A>T (n.3221-4A>T) c.*3275T>A (n.*3275T>A) c.2652-4A>T c.3236-4A>T (n.3236-4A>T) n.58A>T c.1996-4A>T c.3416-4A>T (n.3416-4A>T) c.3350-4A>T (n.3350-4A>T) c.3410-4A>T (n.3410-4A>T) c.3356-4A>T (n.3356-4A>T) c.3281-4A>T (n.3281-4A>T) c.2876-4A>T (n.2876-4A>T) c.2234-4A>T (n.2234-4A>T) n.3659-4A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712663A= | CA1918844318 | C10orf105,CDH23 | c.3221-2A= (n.3221-2A=) c.*3273T= (n.*3273T=) c.2652-2A= c.3236-2A= (n.3236-2A=) n.60A= c.1996-2A= c.3416-2A= (n.3416-2A=) c.3350-2A= (n.3350-2A=) c.3410-2A= (n.3410-2A=) c.3356-2A= (n.3356-2A=) c.3281-2A= (n.3281-2A=) c.2876-2A= (n.2876-2A=) c.2234-2A= (n.2234-2A=) n.3659-2A= | |
10 | g.71712663A>C | CA377143927 | C10orf105,CDH23 | c.3221-2A>C (n.3221-2A>C) c.*3273T>G (n.*3273T>G) c.2652-2A>C c.3236-2A>C (n.3236-2A>C) n.60A>C c.1996-2A>C c.3416-2A>C (n.3416-2A>C) c.3350-2A>C (n.3350-2A>C) c.3410-2A>C (n.3410-2A>C) c.3356-2A>C (n.3356-2A>C) c.3281-2A>C (n.3281-2A>C) c.2876-2A>C (n.2876-2A>C) c.2234-2A>C (n.2234-2A>C) n.3659-2A>C | |
10 | g.71712663A>G | CA377143929 | C10orf105,CDH23 | c.3221-2A>G (n.3221-2A>G) c.*3273T>C (n.*3273T>C) c.2652-2A>G c.3236-2A>G (n.3236-2A>G) n.60A>G c.1996-2A>G c.3416-2A>G (n.3416-2A>G) c.3350-2A>G (n.3350-2A>G) c.3410-2A>G (n.3410-2A>G) c.3356-2A>G (n.3356-2A>G) c.3281-2A>G (n.3281-2A>G) c.2876-2A>G (n.2876-2A>G) c.2234-2A>G (n.2234-2A>G) n.3659-2A>G | ClinVar dbSNP |
10 | g.71712663A>T | CA377143930 | C10orf105,CDH23 | c.3221-2A>T (n.3221-2A>T) c.*3273T>A (n.*3273T>A) c.2652-2A>T c.3236-2A>T (n.3236-2A>T) n.60A>T c.1996-2A>T c.3416-2A>T (n.3416-2A>T) c.3350-2A>T (n.3350-2A>T) c.3410-2A>T (n.3410-2A>T) c.3356-2A>T (n.3356-2A>T) c.3281-2A>T (n.3281-2A>T) c.2876-2A>T (n.2876-2A>T) c.2234-2A>T (n.2234-2A>T) n.3659-2A>T | |
10 | g.71712664G>A | CA377143933 | C10orf105,CDH23 | c.3221-1G>A (n.3221-1G>A) c.*3272C>T (n.*3272C>T) c.2652-1G>A c.3236-1G>A (n.3236-1G>A) n.61G>A c.1996-1G>A c.3416-1G>A (n.3416-1G>A) c.3350-1G>A (n.3350-1G>A) c.3410-1G>A (n.3410-1G>A) c.3356-1G>A (n.3356-1G>A) c.3281-1G>A (n.3281-1G>A) c.2876-1G>A (n.2876-1G>A) c.2234-1G>A (n.2234-1G>A) n.3659-1G>A | |
10 | g.71712664G>C | CA377143937 | C10orf105,CDH23 | c.3221-1G>C (n.3221-1G>C) c.*3272C>G (n.*3272C>G) c.2652-1G>C c.3236-1G>C (n.3236-1G>C) n.61G>C c.1996-1G>C c.3416-1G>C (n.3416-1G>C) c.3350-1G>C (n.3350-1G>C) c.3410-1G>C (n.3410-1G>C) c.3356-1G>C (n.3356-1G>C) c.3281-1G>C (n.3281-1G>C) c.2876-1G>C (n.2876-1G>C) c.2234-1G>C (n.2234-1G>C) n.3659-1G>C | |
10 | g.71712664G>T | CA377143936 | C10orf105,CDH23 | c.3221-1G>T (n.3221-1G>T) c.*3272C>A (n.*3272C>A) c.2652-1G>T c.3236-1G>T (n.3236-1G>T) n.61G>T c.1996-1G>T c.3416-1G>T (n.3416-1G>T) c.3350-1G>T (n.3350-1G>T) c.3410-1G>T (n.3410-1G>T) c.3356-1G>T (n.3356-1G>T) c.3281-1G>T (n.3281-1G>T) c.2876-1G>T (n.2876-1G>T) c.2234-1G>T (n.2234-1G>T) n.3659-1G>T | |
10 | g.71712665A>C | CA377143939 | C10orf105,CDH23 | c.3221A>C (p.Asp1074Ala) c.*3271T>G (n.*3271T>G) c.2652A>C c.3236A>C (p.Asp1079Ala) n.62A>C c.1996A>C c.3416A>C (p.Asp1139Ala) c.3350A>C (p.Asp1117Ala) c.3410A>C (p.Asp1137Ala) c.3356A>C (p.Asp1119Ala) c.3281A>C (p.Asp1094Ala) c.2876A>C (p.Asp959Ala) c.2234A>C (p.Asp745Ala) n.3659A>C | |
10 | g.71712665A>G | CA377143940 | C10orf105,CDH23 | c.3221A>G (p.Asp1074Gly) c.*3271T>C (n.*3271T>C) c.2652A>G c.3236A>G (p.Asp1079Gly) n.62A>G c.1996A>G c.3416A>G (p.Asp1139Gly) c.3350A>G (p.Asp1117Gly) c.3410A>G (p.Asp1137Gly) c.3356A>G (p.Asp1119Gly) c.3281A>G (p.Asp1094Gly) c.2876A>G (p.Asp959Gly) c.2234A>G (p.Asp745Gly) n.3659A>G | |
10 | g.71712665A>T | CA377143941 | C10orf105,CDH23 | c.3221A>T (p.Asp1074Val) c.*3271T>A (n.*3271T>A) c.2652A>T c.3236A>T (p.Asp1079Val) n.62A>T c.1996A>T c.3416A>T (p.Asp1139Val) c.3350A>T (p.Asp1117Val) c.3410A>T (p.Asp1137Val) c.3356A>T (p.Asp1119Val) c.3281A>T (p.Asp1094Val) c.2876A>T (p.Asp959Val) c.2234A>T (p.Asp745Val) n.3659A>T | |
10 | g.71712666C>A | CA377143942 | C10orf105,CDH23 | c.3222C>A (p.Asp1074Glu) c.*3270G>T (n.*3270G>T) c.2653C>A c.3237C>A (p.Asp1079Glu) n.63C>A c.1997C>A c.3417C>A (p.Asp1139Glu) c.3351C>A (p.Asp1117Glu) c.3411C>A (p.Asp1137Glu) c.3357C>A (p.Asp1119Glu) c.3282C>A (p.Asp1094Glu) c.2877C>A (p.Asp959Glu) c.2235C>A (p.Asp745Glu) n.3660C>A | |
10 | g.71712666C>G | CA377143943 | C10orf105,CDH23 | c.3222C>G (p.Asp1074Glu) c.*3270G>C (n.*3270G>C) c.2653C>G c.3237C>G (p.Asp1079Glu) n.63C>G c.1997C>G c.3417C>G (p.Asp1139Glu) c.3351C>G (p.Asp1117Glu) c.3411C>G (p.Asp1137Glu) c.3357C>G (p.Asp1119Glu) c.3282C>G (p.Asp1094Glu) c.2877C>G (p.Asp959Glu) c.2235C>G (p.Asp745Glu) n.3660C>G | |
10 | g.71712666C>T | CA470062809 | C10orf105,CDH23 | c.3222C>T (p.Asp1074=) c.*3270G>A (n.*3270G>A) c.2653C>T c.3237C>T (p.Asp1079=) n.63C>T c.1997C>T c.3417C>T (p.Asp1139=) c.3351C>T (p.Asp1117=) c.3411C>T (p.Asp1137=) c.3357C>T (p.Asp1119=) c.3282C>T (p.Asp1094=) c.2877C>T (p.Asp959=) c.2235C>T (p.Asp745=) n.3660C>T | ClinVar |
10 | g.71712667A>C | CA377143944 | C10orf105,CDH23 | c.3223A>C (p.Asn1075His) c.*3269T>G (n.*3269T>G) c.2654A>C c.3238A>C (p.Asn1080His) n.64A>C c.1998A>C c.3418A>C (p.Asn1140His) c.3352A>C (p.Asn1118His) c.3412A>C (p.Asn1138His) c.3358A>C (p.Asn1120His) c.3283A>C (p.Asn1095His) c.2878A>C (p.Asn960His) c.2236A>C (p.Asn746His) n.3661A>C | |
10 | g.71712667A>G | CA377143945 | C10orf105,CDH23 | c.3223A>G (p.Asn1075Asp) c.*3269T>C (n.*3269T>C) c.2654A>G c.3238A>G (p.Asn1080Asp) n.64A>G c.1998A>G c.3418A>G (p.Asn1140Asp) c.3352A>G (p.Asn1118Asp) c.3412A>G (p.Asn1138Asp) c.3358A>G (p.Asn1120Asp) c.3283A>G (p.Asn1095Asp) c.2878A>G (p.Asn960Asp) c.2236A>G (p.Asn746Asp) n.3661A>G | |
10 | g.71712667A>T | CA377143946 | C10orf105,CDH23 | c.3223A>T (p.Asn1075Tyr) c.*3269T>A (n.*3269T>A) c.2654A>T c.3238A>T (p.Asn1080Tyr) n.64A>T c.1998A>T c.3418A>T (p.Asn1140Tyr) c.3352A>T (p.Asn1118Tyr) c.3412A>T (p.Asn1138Tyr) c.3358A>T (p.Asn1120Tyr) c.3283A>T (p.Asn1095Tyr) c.2878A>T (p.Asn960Tyr) c.2236A>T (p.Asn746Tyr) n.3661A>T | |
10 | g.71712667_71712670dup | CA2609572117 | C10orf105,CDH23 | c.3223_3226dup (p.Gly1076GlufsTer23) c.*3266_*3269dup (n.*3266_*3269dup) c.2654_2657dup c.3238_3241dup (p.Gly1081GlufsTer23) n.64_67dup c.1998_2001dup c.3418_3421dup (p.Gly1141GlufsTer23) c.3352_3355dup (p.Gly1119GlufsTer23) c.3412_3415dup (p.Gly1139GlufsTer23) c.3358_3361dup (p.Gly1121GlufsTer23) c.3283_3286dup (p.Gly1096GlufsTer23) c.2878_2881dup (p.Gly961GlufsTer23) c.2236_2239dup (p.Gly747GlufsTer23) n.3661_3664dup | gnomAD v4 |
10 | g.71712668A>C | CA377143947 | C10orf105,CDH23 | c.3224A>C (p.Asn1075Thr) c.*3268T>G (n.*3268T>G) c.2655A>C c.3239A>C (p.Asn1080Thr) n.65A>C c.1999A>C c.3419A>C (p.Asn1140Thr) c.3353A>C (p.Asn1118Thr) c.3413A>C (p.Asn1138Thr) c.3359A>C (p.Asn1120Thr) c.3284A>C (p.Asn1095Thr) c.2879A>C (p.Asn960Thr) c.2237A>C (p.Asn746Thr) n.3662A>C | |
10 | g.71712668A>G | CA377143948 | C10orf105,CDH23 | c.3224A>G (p.Asn1075Ser) c.*3268T>C (n.*3268T>C) c.2655A>G c.3239A>G (p.Asn1080Ser) n.65A>G c.1999A>G c.3419A>G (p.Asn1140Ser) c.3353A>G (p.Asn1118Ser) c.3413A>G (p.Asn1138Ser) c.3359A>G (p.Asn1120Ser) c.3284A>G (p.Asn1095Ser) c.2879A>G (p.Asn960Ser) c.2237A>G (p.Asn746Ser) n.3662A>G | |
10 | g.71712668A>T | CA377143951 | C10orf105,CDH23 | c.3224A>T (p.Asn1075Ile) c.*3268T>A (n.*3268T>A) c.2655A>T c.3239A>T (p.Asn1080Ile) n.65A>T c.1999A>T c.3419A>T (p.Asn1140Ile) c.3353A>T (p.Asn1118Ile) c.3413A>T (p.Asn1138Ile) c.3359A>T (p.Asn1120Ile) c.3284A>T (p.Asn1095Ile) c.2879A>T (p.Asn960Ile) c.2237A>T (p.Asn746Ile) n.3662A>T | |
10 | g.71712669C>A | CA377143954 | C10orf105,CDH23 | c.3225C>A (p.Asn1075Lys) c.*3267G>T (n.*3267G>T) c.2656C>A c.3240C>A (p.Asn1080Lys) n.66C>A c.2000C>A c.3420C>A (p.Asn1140Lys) c.3354C>A (p.Asn1118Lys) c.3414C>A (p.Asn1138Lys) c.3360C>A (p.Asn1120Lys) c.3285C>A (p.Asn1095Lys) c.2880C>A (p.Asn960Lys) c.2238C>A (p.Asn746Lys) n.3663C>A | |
10 | g.71712669C= | CA1918844320 | C10orf105,CDH23 | c.3225C= (p.Asn1075=) c.*3267G= (n.*3267G=) c.2656C= c.3240C= (p.Asn1080=) n.66C= c.2000C= c.3420C= (p.Asn1140=) c.3354C= (p.Asn1118=) c.3414C= (p.Asn1138=) c.3360C= (p.Asn1120=) c.3285C= (p.Asn1095=) c.2880C= (p.Asn960=) c.2238C= (p.Asn746=) n.3663C= | |
10 | g.71712669C>G | CA377143960 | C10orf105,CDH23 | c.3225C>G (p.Asn1075Lys) c.*3267G>C (n.*3267G>C) c.2656C>G c.3240C>G (p.Asn1080Lys) n.66C>G c.2000C>G c.3420C>G (p.Asn1140Lys) c.3354C>G (p.Asn1118Lys) c.3414C>G (p.Asn1138Lys) c.3360C>G (p.Asn1120Lys) c.3285C>G (p.Asn1095Lys) c.2880C>G (p.Asn960Lys) c.2238C>G (p.Asn746Lys) n.3663C>G | |
10 | g.71712669C>T | CA5544531 | C10orf105,CDH23 | c.3225C>T (p.Asn1075=) c.*3267G>A (n.*3267G>A) c.2656C>T c.3240C>T (p.Asn1080=) n.66C>T c.2000C>T c.3420C>T (p.Asn1140=) c.3354C>T (p.Asn1118=) c.3414C>T (p.Asn1138=) c.3360C>T (p.Asn1120=) c.3285C>T (p.Asn1095=) c.2880C>T (p.Asn960=) c.2238C>T (p.Asn746=) n.3663C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712670G>A | CA377143963 | C10orf105,CDH23 | c.3226G>A (p.Gly1076Ser) c.*3266C>T (n.*3266C>T) c.2657G>A c.3241G>A (p.Gly1081Ser) n.67G>A c.2001G>A c.3421G>A (p.Gly1141Ser) c.3355G>A (p.Gly1119Ser) c.3415G>A (p.Gly1139Ser) c.3361G>A (p.Gly1121Ser) c.3286G>A (p.Gly1096Ser) c.2881G>A (p.Gly961Ser) c.2239G>A (p.Gly747Ser) n.3664G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712670G>C | CA377143965 | C10orf105,CDH23 | c.3226G>C (p.Gly1076Arg) c.*3266C>G (n.*3266C>G) c.2657G>C c.3241G>C (p.Gly1081Arg) n.67G>C c.2001G>C c.3421G>C (p.Gly1141Arg) c.3355G>C (p.Gly1119Arg) c.3415G>C (p.Gly1139Arg) c.3361G>C (p.Gly1121Arg) c.3286G>C (p.Gly1096Arg) c.2881G>C (p.Gly961Arg) c.2239G>C (p.Gly747Arg) n.3664G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712670G= | CA1918844322 | C10orf105,CDH23 | c.3226G= (p.Gly1076=) c.*3266C= (n.*3266C=) c.2657G= c.3241G= (p.Gly1081=) n.67G= c.2001G= c.3421G= (p.Gly1141=) c.3355G= (p.Gly1119=) c.3415G= (p.Gly1139=) c.3361G= (p.Gly1121=) c.3286G= (p.Gly1096=) c.2881G= (p.Gly961=) c.2239G= (p.Gly747=) n.3664G= | |
10 | g.71712670G>T | CA377143971 | C10orf105,CDH23 | c.3226G>T (p.Gly1076Cys) c.*3266C>A (n.*3266C>A) c.2657G>T c.3241G>T (p.Gly1081Cys) n.67G>T c.2001G>T c.3421G>T (p.Gly1141Cys) c.3355G>T (p.Gly1119Cys) c.3415G>T (p.Gly1139Cys) c.3361G>T (p.Gly1121Cys) c.3286G>T (p.Gly1096Cys) c.2881G>T (p.Gly961Cys) c.2239G>T (p.Gly747Cys) n.3664G>T | |
10 | g.71712671dup | CA209465063 | C10orf105,CDH23 | c.3227dup (p.Val1078CysfsTer20) c.*3266dup (n.*3266dup) c.2658dup c.3242dup (p.Val1083CysfsTer20) n.68dup c.2002dup c.3422dup (p.Val1143CysfsTer20) c.3356dup (p.Val1121CysfsTer20) c.3416dup (p.Val1141CysfsTer20) c.3362dup (p.Val1123CysfsTer20) c.3287dup (p.Val1098CysfsTer20) c.2882dup (p.Val963CysfsTer20) c.2240dup (p.Val749CysfsTer20) n.3665dup | dbSNP |
10 | g.71712671G>A | CA377143972 | C10orf105,CDH23 | c.3227G>A (p.Gly1076Asp) c.*3265C>T (n.*3265C>T) c.2658G>A c.3242G>A (p.Gly1081Asp) n.68G>A c.2002G>A c.3422G>A (p.Gly1141Asp) c.3356G>A (p.Gly1119Asp) c.3416G>A (p.Gly1139Asp) c.3362G>A (p.Gly1121Asp) c.3287G>A (p.Gly1096Asp) c.2882G>A (p.Gly961Asp) c.2240G>A (p.Gly747Asp) n.3665G>A | |
10 | g.71712671G>C | CA377143973 | C10orf105,CDH23 | c.3227G>C (p.Gly1076Ala) c.*3265C>G (n.*3265C>G) c.2658G>C c.3242G>C (p.Gly1081Ala) n.68G>C c.2002G>C c.3422G>C (p.Gly1141Ala) c.3356G>C (p.Gly1119Ala) c.3416G>C (p.Gly1139Ala) c.3362G>C (p.Gly1121Ala) c.3287G>C (p.Gly1096Ala) c.2882G>C (p.Gly961Ala) c.2240G>C (p.Gly747Ala) n.3665G>C | |
10 | g.71712671G>T | CA377143974 | C10orf105,CDH23 | c.3227G>T (p.Gly1076Val) c.*3265C>A (n.*3265C>A) c.2658G>T c.3242G>T (p.Gly1081Val) n.68G>T c.2002G>T c.3422G>T (p.Gly1141Val) c.3356G>T (p.Gly1119Val) c.3416G>T (p.Gly1139Val) c.3362G>T (p.Gly1121Val) c.3287G>T (p.Gly1096Val) c.2882G>T (p.Gly961Val) c.2240G>T (p.Gly747Val) n.3665G>T | |
10 | g.71712672C>A | CA209465067 | C10orf105,CDH23 | c.3228C>A (p.Gly1076=) c.*3264G>T (n.*3264G>T) c.2659C>A c.3243C>A (p.Gly1081=) n.69C>A c.2003C>A c.3423C>A (p.Gly1141=) c.3357C>A (p.Gly1119=) c.3417C>A (p.Gly1139=) c.3363C>A (p.Gly1121=) c.3288C>A (p.Gly1096=) c.2883C>A (p.Gly961=) c.2241C>A (p.Gly747=) n.3666C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712672C= | CA1918844326 | C10orf105,CDH23 | c.3228C= (p.Gly1076=) c.*3264G= (n.*3264G=) c.2659C= c.3243C= (p.Gly1081=) n.69C= c.2003C= c.3423C= (p.Gly1141=) c.3357C= (p.Gly1119=) c.3417C= (p.Gly1139=) c.3363C= (p.Gly1121=) c.3288C= (p.Gly1096=) c.2883C= (p.Gly961=) c.2241C= (p.Gly747=) n.3666C= | |
10 | g.71712672C>G | CA5544532 | C10orf105,CDH23 | c.3228C>G (p.Gly1076=) c.*3264G>C (n.*3264G>C) c.2659C>G c.3243C>G (p.Gly1081=) n.69C>G c.2003C>G c.3423C>G (p.Gly1141=) c.3357C>G (p.Gly1119=) c.3417C>G (p.Gly1139=) c.3363C>G (p.Gly1121=) c.3288C>G (p.Gly1096=) c.2883C>G (p.Gly961=) c.2241C>G (p.Gly747=) n.3666C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712672C>T | CA470062825 | C10orf105,CDH23 | c.3228C>T (p.Gly1076=) c.*3264G>A (n.*3264G>A) c.2659C>T c.3243C>T (p.Gly1081=) n.69C>T c.2003C>T c.3423C>T (p.Gly1141=) c.3357C>T (p.Gly1119=) c.3417C>T (p.Gly1139=) c.3363C>T (p.Gly1121=) c.3288C>T (p.Gly1096=) c.2883C>T (p.Gly961=) c.2241C>T (p.Gly747=) n.3666C>T | |
10 | g.71712673_71712674del | CA2574575019 | C10orf105,CDH23 | c.3229_3230del (p.Pro1077CysfsTer20) c.*3263_*3264del (n.*3263_*3264del) c.2660_2661del c.3244_3245del (p.Pro1082CysfsTer20) n.70_71del c.2004_2005del c.3424_3425del (p.Pro1142CysfsTer20) c.3358_3359del (p.Pro1120CysfsTer20) c.3418_3419del (p.Pro1140CysfsTer20) c.3364_3365del (p.Pro1122CysfsTer20) c.3289_3290del (p.Pro1097CysfsTer20) c.2884_2885del (p.Pro962CysfsTer20) c.2242_2243del (p.Pro748CysfsTer20) n.3667_3668del | |
10 | g.71712673C>A | CA377143975 | C10orf105,CDH23 | c.3229C>A (p.Pro1077Thr) c.*3263G>T (n.*3263G>T) c.2660C>A c.3244C>A (p.Pro1082Thr) n.70C>A c.2004C>A c.3424C>A (p.Pro1142Thr) c.3358C>A (p.Pro1120Thr) c.3418C>A (p.Pro1140Thr) c.3364C>A (p.Pro1122Thr) c.3289C>A (p.Pro1097Thr) c.2884C>A (p.Pro962Thr) c.2242C>A (p.Pro748Thr) n.3667C>A | |
10 | g.71712673C= | CA1918844328 | C10orf105,CDH23 | c.3229C= (p.Pro1077=) c.*3263G= (n.*3263G=) c.2660C= c.3244C= (p.Pro1082=) n.70C= c.2004C= c.3424C= (p.Pro1142=) c.3358C= (p.Pro1120=) c.3418C= (p.Pro1140=) c.3364C= (p.Pro1122=) c.3289C= (p.Pro1097=) c.2884C= (p.Pro962=) c.2242C= (p.Pro748=) n.3667C= | |
10 | g.71712673C>G | CA377143978 | C10orf105,CDH23 | c.3229C>G (p.Pro1077Ala) c.*3263G>C (n.*3263G>C) c.2660C>G c.3244C>G (p.Pro1082Ala) n.70C>G c.2004C>G c.3424C>G (p.Pro1142Ala) c.3358C>G (p.Pro1120Ala) c.3418C>G (p.Pro1140Ala) c.3364C>G (p.Pro1122Ala) c.3289C>G (p.Pro1097Ala) c.2884C>G (p.Pro962Ala) c.2242C>G (p.Pro748Ala) n.3667C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712673C>T | CA377143977 | C10orf105,CDH23 | c.3229C>T (p.Pro1077Ser) c.*3263G>A (n.*3263G>A) c.2660C>T c.3244C>T (p.Pro1082Ser) n.70C>T c.2004C>T c.3424C>T (p.Pro1142Ser) c.3358C>T (p.Pro1120Ser) c.3418C>T (p.Pro1140Ser) c.3364C>T (p.Pro1122Ser) c.3289C>T (p.Pro1097Ser) c.2884C>T (p.Pro962Ser) c.2242C>T (p.Pro748Ser) n.3667C>T | |
10 | g.71712674C>A | CA377143980 | C10orf105,CDH23 | c.3230C>A (p.Pro1077His) c.*3262G>T (n.*3262G>T) c.2661C>A c.3245C>A (p.Pro1082His) n.71C>A c.2005C>A c.3425C>A (p.Pro1142His) c.3359C>A (p.Pro1120His) c.3419C>A (p.Pro1140His) c.3365C>A (p.Pro1122His) c.3290C>A (p.Pro1097His) c.2885C>A (p.Pro962His) c.2243C>A (p.Pro748His) n.3668C>A | |
10 | g.71712674C= | CA1918844330 | C10orf105,CDH23 | c.3230C= (p.Pro1077=) c.*3262G= (n.*3262G=) c.2661C= c.3245C= (p.Pro1082=) n.71C= c.2005C= c.3425C= (p.Pro1142=) c.3359C= (p.Pro1120=) c.3419C= (p.Pro1140=) c.3365C= (p.Pro1122=) c.3290C= (p.Pro1097=) c.2885C= (p.Pro962=) c.2243C= (p.Pro748=) n.3668C= | |
10 | g.71712674C>G | CA377143988 | C10orf105,CDH23 | c.3230C>G (p.Pro1077Arg) c.*3262G>C (n.*3262G>C) c.2661C>G c.3245C>G (p.Pro1082Arg) n.71C>G c.2005C>G c.3425C>G (p.Pro1142Arg) c.3359C>G (p.Pro1120Arg) c.3419C>G (p.Pro1140Arg) c.3365C>G (p.Pro1122Arg) c.3290C>G (p.Pro1097Arg) c.2885C>G (p.Pro962Arg) c.2243C>G (p.Pro748Arg) n.3668C>G | ClinVar |
10 | g.71712674C>T | CA175482 | C10orf105,CDH23 | c.3230C>T (p.Pro1077Leu) c.*3262G>A (n.*3262G>A) c.2661C>T c.3245C>T (p.Pro1082Leu) n.71C>T c.2005C>T c.3425C>T (p.Pro1142Leu) c.3359C>T (p.Pro1120Leu) c.3419C>T (p.Pro1140Leu) c.3365C>T (p.Pro1122Leu) c.3290C>T (p.Pro1097Leu) c.2885C>T (p.Pro962Leu) c.2243C>T (p.Pro748Leu) n.3668C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712675T>A | CA470062834 | C10orf105,CDH23 | c.3231T>A (p.Pro1077=) c.*3261A>T (n.*3261A>T) c.2662T>A c.3246T>A (p.Pro1082=) n.72T>A c.2006T>A c.3426T>A (p.Pro1142=) c.3360T>A (p.Pro1120=) c.3420T>A (p.Pro1140=) c.3366T>A (p.Pro1122=) c.3291T>A (p.Pro1097=) c.2886T>A (p.Pro962=) c.2244T>A (p.Pro748=) n.3669T>A | |
10 | g.71712675T>C | CA470062835 | C10orf105,CDH23 | c.3231T>C (p.Pro1077=) c.*3261A>G (n.*3261A>G) c.2662T>C c.3246T>C (p.Pro1082=) n.72T>C c.2006T>C c.3426T>C (p.Pro1142=) c.3360T>C (p.Pro1120=) c.3420T>C (p.Pro1140=) c.3366T>C (p.Pro1122=) c.3291T>C (p.Pro1097=) c.2886T>C (p.Pro962=) c.2244T>C (p.Pro748=) n.3669T>C | |
10 | g.71712675T>G | CA5544533 | C10orf105,CDH23 | c.3231T>G (p.Pro1077=) c.*3261A>C (n.*3261A>C) c.2662T>G c.3246T>G (p.Pro1082=) n.72T>G c.2006T>G c.3426T>G (p.Pro1142=) c.3360T>G (p.Pro1120=) c.3420T>G (p.Pro1140=) c.3366T>G (p.Pro1122=) c.3291T>G (p.Pro1097=) c.2886T>G (p.Pro962=) c.2244T>G (p.Pro748=) n.3669T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712675T= | CA1918844333 | C10orf105,CDH23 | c.3231T= (p.Pro1077=) c.*3261A= (n.*3261A=) c.2662T= c.3246T= (p.Pro1082=) n.72T= c.2006T= c.3426T= (p.Pro1142=) c.3360T= (p.Pro1120=) c.3420T= (p.Pro1140=) c.3366T= (p.Pro1122=) c.3291T= (p.Pro1097=) c.2886T= (p.Pro962=) c.2244T= (p.Pro748=) n.3669T= | |
10 | g.71712676G>A | CA377143997 | C10orf105,CDH23 | c.3232G>A (p.Val1078Ile) c.*3260C>T (n.*3260C>T) c.2663G>A c.3247G>A (p.Val1083Ile) n.73G>A c.2007G>A c.3427G>A (p.Val1143Ile) c.3361G>A (p.Val1121Ile) c.3421G>A (p.Val1141Ile) c.3367G>A (p.Val1123Ile) c.3292G>A (p.Val1098Ile) c.2887G>A (p.Val963Ile) c.2245G>A (p.Val749Ile) n.3670G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712676G>C | CA209465085 | C10orf105,CDH23 | c.3232G>C (p.Val1078Leu) c.*3260C>G (n.*3260C>G) c.2663G>C c.3247G>C (p.Val1083Leu) n.73G>C c.2007G>C c.3427G>C (p.Val1143Leu) c.3361G>C (p.Val1121Leu) c.3421G>C (p.Val1141Leu) c.3367G>C (p.Val1123Leu) c.3292G>C (p.Val1098Leu) c.2887G>C (p.Val963Leu) c.2245G>C (p.Val749Leu) n.3670G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712676G= | CA1918844336 | C10orf105,CDH23 | c.3232G= (p.Val1078=) c.*3260C= (n.*3260C=) c.2663G= c.3247G= (p.Val1083=) n.73G= c.2007G= c.3427G= (p.Val1143=) c.3361G= (p.Val1121=) c.3421G= (p.Val1141=) c.3367G= (p.Val1123=) c.3292G= (p.Val1098=) c.2887G= (p.Val963=) c.2245G= (p.Val749=) n.3670G= | |
10 | g.71712676G>T | CA377144000 | C10orf105,CDH23 | c.3232G>T (p.Val1078Leu) c.*3260C>A (n.*3260C>A) c.2663G>T c.3247G>T (p.Val1083Leu) n.73G>T c.2007G>T c.3427G>T (p.Val1143Leu) c.3361G>T (p.Val1121Leu) c.3421G>T (p.Val1141Leu) c.3367G>T (p.Val1123Leu) c.3292G>T (p.Val1098Leu) c.2887G>T (p.Val963Leu) c.2245G>T (p.Val749Leu) n.3670G>T | |
10 | g.71712677T>A | CA377144002 | C10orf105,CDH23 | c.3233T>A (p.Val1078Glu) c.*3259A>T (n.*3259A>T) c.2664T>A c.3248T>A (p.Val1083Glu) n.74T>A c.2008T>A c.3428T>A (p.Val1143Glu) c.3362T>A (p.Val1121Glu) c.3422T>A (p.Val1141Glu) c.3368T>A (p.Val1123Glu) c.3293T>A (p.Val1098Glu) c.2888T>A (p.Val963Glu) c.2246T>A (p.Val749Glu) n.3671T>A | |
10 | g.71712677T>C | CA377144005 | C10orf105,CDH23 | c.3233T>C (p.Val1078Ala) c.*3259A>G (n.*3259A>G) c.2664T>C c.3248T>C (p.Val1083Ala) n.74T>C c.2008T>C c.3428T>C (p.Val1143Ala) c.3362T>C (p.Val1121Ala) c.3422T>C (p.Val1141Ala) c.3368T>C (p.Val1123Ala) c.3293T>C (p.Val1098Ala) c.2888T>C (p.Val963Ala) c.2246T>C (p.Val749Ala) n.3671T>C | gnomAD v4 |
10 | g.71712677T>G | CA377144009 | C10orf105,CDH23 | c.3233T>G (p.Val1078Gly) c.*3259A>C (n.*3259A>C) c.2664T>G c.3248T>G (p.Val1083Gly) n.74T>G c.2008T>G c.3428T>G (p.Val1143Gly) c.3362T>G (p.Val1121Gly) c.3422T>G (p.Val1141Gly) c.3368T>G (p.Val1123Gly) c.3293T>G (p.Val1098Gly) c.2888T>G (p.Val963Gly) c.2246T>G (p.Val749Gly) n.3671T>G | |
10 | g.71712678A>C | CA470062844 | C10orf105,CDH23 | c.3234A>C (p.Val1078=) c.*3258T>G (n.*3258T>G) c.2665A>C c.3249A>C (p.Val1083=) n.75A>C c.2009A>C c.3429A>C (p.Val1143=) c.3363A>C (p.Val1121=) c.3423A>C (p.Val1141=) c.3369A>C (p.Val1123=) c.3294A>C (p.Val1098=) c.2889A>C (p.Val963=) c.2247A>C (p.Val749=) n.3672A>C | |
10 | g.71712678A>G | CA470062845 | C10orf105,CDH23 | c.3234A>G (p.Val1078=) c.*3258T>C (n.*3258T>C) c.2665A>G c.3249A>G (p.Val1083=) n.75A>G c.2009A>G c.3429A>G (p.Val1143=) c.3363A>G (p.Val1121=) c.3423A>G (p.Val1141=) c.3369A>G (p.Val1123=) c.3294A>G (p.Val1098=) c.2889A>G (p.Val963=) c.2247A>G (p.Val749=) n.3672A>G | |
10 | g.71712678A>T | CA470062843 | C10orf105,CDH23 | c.3234A>T (p.Val1078=) c.*3258T>A (n.*3258T>A) c.2665A>T c.3249A>T (p.Val1083=) n.75A>T c.2009A>T c.3429A>T (p.Val1143=) c.3363A>T (p.Val1121=) c.3423A>T (p.Val1141=) c.3369A>T (p.Val1123=) c.3294A>T (p.Val1098=) c.2889A>T (p.Val963=) c.2247A>T (p.Val749=) n.3672A>T | |
10 | g.71712679G>A | CA377144012 | C10orf105,CDH23 | c.3235G>A (p.Gly1079Arg) c.*3257C>T (n.*3257C>T) c.2666G>A c.3250G>A (p.Gly1084Arg) n.76G>A c.2010G>A c.3430G>A (p.Gly1144Arg) c.3364G>A (p.Gly1122Arg) c.3424G>A (p.Gly1142Arg) c.3370G>A (p.Gly1124Arg) c.3295G>A (p.Gly1099Arg) c.2890G>A (p.Gly964Arg) c.2248G>A (p.Gly750Arg) n.3673G>A | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712679G>C | CA377144013 | C10orf105,CDH23 | c.3235G>C (p.Gly1079Arg) c.*3257C>G (n.*3257C>G) c.2666G>C c.3250G>C (p.Gly1084Arg) n.76G>C c.2010G>C c.3430G>C (p.Gly1144Arg) c.3364G>C (p.Gly1122Arg) c.3424G>C (p.Gly1142Arg) c.3370G>C (p.Gly1124Arg) c.3295G>C (p.Gly1099Arg) c.2890G>C (p.Gly964Arg) c.2248G>C (p.Gly750Arg) n.3673G>C | |
10 | g.71712679G= | CA1918844338 | C10orf105,CDH23 | c.3235G= (p.Gly1079=) c.*3257C= (n.*3257C=) c.2666G= c.3250G= (p.Gly1084=) n.76G= c.2010G= c.3430G= (p.Gly1144=) c.3364G= (p.Gly1122=) c.3424G= (p.Gly1142=) c.3370G= (p.Gly1124=) c.3295G= (p.Gly1099=) c.2890G= (p.Gly964=) c.2248G= (p.Gly750=) n.3673G= | |
10 | g.71712679G>T | CA377144018 | C10orf105,CDH23 | c.3235G>T (p.Gly1079Trp) c.*3257C>A (n.*3257C>A) c.2666G>T c.3250G>T (p.Gly1084Trp) n.76G>T c.2010G>T c.3430G>T (p.Gly1144Trp) c.3364G>T (p.Gly1122Trp) c.3424G>T (p.Gly1142Trp) c.3370G>T (p.Gly1124Trp) c.3295G>T (p.Gly1099Trp) c.2890G>T (p.Gly964Trp) c.2248G>T (p.Gly750Trp) n.3673G>T | |
10 | g.71712680G>A | CA377144020 | C10orf105,CDH23 | c.3236G>A (p.Gly1079Glu) c.*3256C>T (n.*3256C>T) c.2667G>A c.3251G>A (p.Gly1084Glu) n.77G>A c.2011G>A c.3431G>A (p.Gly1144Glu) c.3365G>A (p.Gly1122Glu) c.3425G>A (p.Gly1142Glu) c.3371G>A (p.Gly1124Glu) c.3296G>A (p.Gly1099Glu) c.2891G>A (p.Gly964Glu) c.2249G>A (p.Gly750Glu) n.3674G>A | |
10 | g.71712680G>C | CA377144025 | C10orf105,CDH23 | c.3236G>C (p.Gly1079Ala) c.*3256C>G (n.*3256C>G) c.2667G>C c.3251G>C (p.Gly1084Ala) n.77G>C c.2011G>C c.3431G>C (p.Gly1144Ala) c.3365G>C (p.Gly1122Ala) c.3425G>C (p.Gly1142Ala) c.3371G>C (p.Gly1124Ala) c.3296G>C (p.Gly1099Ala) c.2891G>C (p.Gly964Ala) c.2249G>C (p.Gly750Ala) n.3674G>C | |
10 | g.71712680G>T | CA377144027 | C10orf105,CDH23 | c.3236G>T (p.Gly1079Val) c.*3256C>A (n.*3256C>A) c.2667G>T c.3251G>T (p.Gly1084Val) n.77G>T c.2011G>T c.3431G>T (p.Gly1144Val) c.3365G>T (p.Gly1122Val) c.3425G>T (p.Gly1142Val) c.3371G>T (p.Gly1124Val) c.3296G>T (p.Gly1099Val) c.2891G>T (p.Gly964Val) c.2249G>T (p.Gly750Val) n.3674G>T | |
10 | g.71712681G>A | CA470062852 | C10orf105,CDH23 | c.3237G>A (p.Gly1079=) c.*3255C>T (n.*3255C>T) c.2668G>A c.3252G>A (p.Gly1084=) n.78G>A c.2012G>A c.3432G>A (p.Gly1144=) c.3366G>A (p.Gly1122=) c.3426G>A (p.Gly1142=) c.3372G>A (p.Gly1124=) c.3297G>A (p.Gly1099=) c.2892G>A (p.Gly964=) c.2250G>A (p.Gly750=) n.3675G>A | |
10 | g.71712681G>C | CA470062850 | C10orf105,CDH23 | c.3237G>C (p.Gly1079=) c.*3255C>G (n.*3255C>G) c.2668G>C c.3252G>C (p.Gly1084=) n.78G>C c.2012G>C c.3432G>C (p.Gly1144=) c.3366G>C (p.Gly1122=) c.3426G>C (p.Gly1142=) c.3372G>C (p.Gly1124=) c.3297G>C (p.Gly1099=) c.2892G>C (p.Gly964=) c.2250G>C (p.Gly750=) n.3675G>C | |
10 | g.71712681G>T | CA470062851 | C10orf105,CDH23 | c.3237G>T (p.Gly1079=) c.*3255C>A (n.*3255C>A) c.2668G>T c.3252G>T (p.Gly1084=) n.78G>T c.2012G>T c.3432G>T (p.Gly1144=) c.3366G>T (p.Gly1122=) c.3426G>T (p.Gly1142=) c.3372G>T (p.Gly1124=) c.3297G>T (p.Gly1099=) c.2892G>T (p.Gly964=) c.2250G>T (p.Gly750=) n.3675G>T | |
10 | g.71712682A= | CA1918844340 | C10orf105,CDH23 | c.3238A= (p.Lys1080=) c.*3254T= (n.*3254T=) c.2669A= c.3253A= (p.Lys1085=) n.79A= c.2013A= c.3433A= (p.Lys1145=) c.3367A= (p.Lys1123=) c.3427A= (p.Lys1143=) c.3373A= (p.Lys1125=) c.3298A= (p.Lys1100=) c.2893A= (p.Lys965=) c.2251A= (p.Lys751=) n.3676A= | |
10 | g.71712682A>C | CA377144029 | C10orf105,CDH23 | c.3238A>C (p.Lys1080Gln) c.*3254T>G (n.*3254T>G) c.2669A>C c.3253A>C (p.Lys1085Gln) n.79A>C c.2013A>C c.3433A>C (p.Lys1145Gln) c.3367A>C (p.Lys1123Gln) c.3427A>C (p.Lys1143Gln) c.3373A>C (p.Lys1125Gln) c.3298A>C (p.Lys1100Gln) c.2893A>C (p.Lys965Gln) c.2251A>C (p.Lys751Gln) n.3676A>C | |
10 | g.71712682A>G | CA377144031 | C10orf105,CDH23 | c.3238A>G (p.Lys1080Glu) c.*3254T>C (n.*3254T>C) c.2669A>G c.3253A>G (p.Lys1085Glu) n.79A>G c.2013A>G c.3433A>G (p.Lys1145Glu) c.3367A>G (p.Lys1123Glu) c.3427A>G (p.Lys1143Glu) c.3373A>G (p.Lys1125Glu) c.3298A>G (p.Lys1100Glu) c.2893A>G (p.Lys965Glu) c.2251A>G (p.Lys751Glu) n.3676A>G | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712682A>T | CA377144033 | C10orf105,CDH23 | c.3238A>T (p.Lys1080Ter) c.*3254T>A (n.*3254T>A) c.2669A>T c.3253A>T (p.Lys1085Ter) n.79A>T c.2013A>T c.3433A>T (p.Lys1145Ter) c.3367A>T (p.Lys1123Ter) c.3427A>T (p.Lys1143Ter) c.3373A>T (p.Lys1125Ter) c.3298A>T (p.Lys1100Ter) c.2893A>T (p.Lys965Ter) c.2251A>T (p.Lys751Ter) n.3676A>T | |
10 | g.71712683A>C | CA377144036 | C10orf105,CDH23 | c.3239A>C (p.Lys1080Thr) c.*3253T>G (n.*3253T>G) c.2670A>C c.3254A>C (p.Lys1085Thr) n.80A>C c.2014A>C c.3434A>C (p.Lys1145Thr) c.3368A>C (p.Lys1123Thr) c.3428A>C (p.Lys1143Thr) c.3374A>C (p.Lys1125Thr) c.3299A>C (p.Lys1100Thr) c.2894A>C (p.Lys965Thr) c.2252A>C (p.Lys751Thr) n.3677A>C | |
10 | g.71712683A>G | CA377144039 | C10orf105,CDH23 | c.3239A>G (p.Lys1080Arg) c.*3253T>C (n.*3253T>C) c.2670A>G c.3254A>G (p.Lys1085Arg) n.80A>G c.2014A>G c.3434A>G (p.Lys1145Arg) c.3368A>G (p.Lys1123Arg) c.3428A>G (p.Lys1143Arg) c.3374A>G (p.Lys1125Arg) c.3299A>G (p.Lys1100Arg) c.2894A>G (p.Lys965Arg) c.2252A>G (p.Lys751Arg) n.3677A>G | |
10 | g.71712683A>T | CA377144038 | C10orf105,CDH23 | c.3239A>T (p.Lys1080Met) c.*3253T>A (n.*3253T>A) c.2670A>T c.3254A>T (p.Lys1085Met) n.80A>T c.2014A>T c.3434A>T (p.Lys1145Met) c.3368A>T (p.Lys1123Met) c.3428A>T (p.Lys1143Met) c.3374A>T (p.Lys1125Met) c.3299A>T (p.Lys1100Met) c.2894A>T (p.Lys965Met) c.2252A>T (p.Lys751Met) n.3677A>T | |
10 | g.71712684G>A | CA470062857 | C10orf105,CDH23 | c.3240G>A (p.Lys1080=) c.*3252C>T (n.*3252C>T) c.2671G>A c.3255G>A (p.Lys1085=) n.81G>A c.2015G>A c.3435G>A (p.Lys1145=) c.3369G>A (p.Lys1123=) c.3429G>A (p.Lys1143=) c.3375G>A (p.Lys1125=) c.3300G>A (p.Lys1100=) c.2895G>A (p.Lys965=) c.2253G>A (p.Lys751=) n.3678G>A | ClinVar dbSNP |
10 | g.71712684G>C | CA377144041 | C10orf105,CDH23 | c.3240G>C (p.Lys1080Asn) c.*3252C>G (n.*3252C>G) c.2671G>C c.3255G>C (p.Lys1085Asn) n.81G>C c.2015G>C c.3435G>C (p.Lys1145Asn) c.3369G>C (p.Lys1123Asn) c.3429G>C (p.Lys1143Asn) c.3375G>C (p.Lys1125Asn) c.3300G>C (p.Lys1100Asn) c.2895G>C (p.Lys965Asn) c.2253G>C (p.Lys751Asn) n.3678G>C | |
10 | g.71712684G>T | CA377144044 | C10orf105,CDH23 | c.3240G>T (p.Lys1080Asn) c.*3252C>A (n.*3252C>A) c.2671G>T c.3255G>T (p.Lys1085Asn) n.81G>T c.2015G>T c.3435G>T (p.Lys1145Asn) c.3369G>T (p.Lys1123Asn) c.3429G>T (p.Lys1143Asn) c.3375G>T (p.Lys1125Asn) c.3300G>T (p.Lys1100Asn) c.2895G>T (p.Lys965Asn) c.2253G>T (p.Lys751Asn) n.3678G>T | |
10 | g.71712685C>A | CA470062862 | C10orf105,CDH23 | c.3241C>A (p.Arg1081=) c.*3251G>T (n.*3251G>T) c.2672C>A c.3256C>A (p.Arg1086=) n.82C>A c.2016C>A c.3436C>A (p.Arg1146=) c.3370C>A (p.Arg1124=) c.3430C>A (p.Arg1144=) c.3376C>A (p.Arg1126=) c.3301C>A (p.Arg1101=) c.2896C>A (p.Arg966=) c.2254C>A (p.Arg752=) n.3679C>A | |
10 | g.71712685C= | CA1918844341 | C10orf105,CDH23 | c.3241C= (p.Arg1081=) c.*3251G= (n.*3251G=) c.2672C= c.3256C= (p.Arg1086=) n.82C= c.2016C= c.3436C= (p.Arg1146=) c.3370C= (p.Arg1124=) c.3430C= (p.Arg1144=) c.3376C= (p.Arg1126=) c.3301C= (p.Arg1101=) c.2896C= (p.Arg966=) c.2254C= (p.Arg752=) n.3679C= | |
10 | g.71712685C>G | CA377144045 | C10orf105,CDH23 | c.3241C>G (p.Arg1081Gly) c.*3251G>C (n.*3251G>C) c.2672C>G c.3256C>G (p.Arg1086Gly) n.82C>G c.2016C>G c.3436C>G (p.Arg1146Gly) c.3370C>G (p.Arg1124Gly) c.3430C>G (p.Arg1144Gly) c.3376C>G (p.Arg1126Gly) c.3301C>G (p.Arg1101Gly) c.2896C>G (p.Arg966Gly) c.2254C>G (p.Arg752Gly) n.3679C>G | dbSNP |
10 | g.71712685C>T | CA209465100 | C10orf105,CDH23 | c.3241C>T (p.Arg1081Ter) c.*3251G>A (n.*3251G>A) c.2672C>T c.3256C>T (p.Arg1086Ter) n.82C>T c.2016C>T c.3436C>T (p.Arg1146Ter) c.3370C>T (p.Arg1124Ter) c.3430C>T (p.Arg1144Ter) c.3376C>T (p.Arg1126Ter) c.3301C>T (p.Arg1101Ter) c.2896C>T (p.Arg966Ter) c.2254C>T (p.Arg752Ter) n.3679C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712686G>A | CA5544534 | C10orf105,CDH23 | c.3242G>A (p.Arg1081Gln) c.*3250C>T (n.*3250C>T) c.2673G>A c.3257G>A (p.Arg1086Gln) n.83G>A c.2017G>A c.3437G>A (p.Arg1146Gln) c.3371G>A (p.Arg1124Gln) c.3431G>A (p.Arg1144Gln) c.3377G>A (p.Arg1126Gln) c.3302G>A (p.Arg1101Gln) c.2897G>A (p.Arg966Gln) c.2255G>A (p.Arg752Gln) n.3680G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712686G>C | CA377144046 | C10orf105,CDH23 | c.3242G>C (p.Arg1081Pro) c.*3250C>G (n.*3250C>G) c.2673G>C c.3257G>C (p.Arg1086Pro) n.83G>C c.2017G>C c.3437G>C (p.Arg1146Pro) c.3371G>C (p.Arg1124Pro) c.3431G>C (p.Arg1144Pro) c.3377G>C (p.Arg1126Pro) c.3302G>C (p.Arg1101Pro) c.2897G>C (p.Arg966Pro) c.2255G>C (p.Arg752Pro) n.3680G>C | |
10 | g.71712686G= | CA1918844344 | C10orf105,CDH23 | c.3242G= (p.Arg1081=) c.*3250C= (n.*3250C=) c.2673G= c.3257G= (p.Arg1086=) n.83G= c.2017G= c.3437G= (p.Arg1146=) c.3371G= (p.Arg1124=) c.3431G= (p.Arg1144=) c.3377G= (p.Arg1126=) c.3302G= (p.Arg1101=) c.2897G= (p.Arg966=) c.2255G= (p.Arg752=) n.3680G= | |
10 | g.71712686G>T | CA377144048 | C10orf105,CDH23 | c.3242G>T (p.Arg1081Leu) c.*3250C>A (n.*3250C>A) c.2673G>T c.3257G>T (p.Arg1086Leu) n.83G>T c.2017G>T c.3437G>T (p.Arg1146Leu) c.3371G>T (p.Arg1124Leu) c.3431G>T (p.Arg1144Leu) c.3377G>T (p.Arg1126Leu) c.3302G>T (p.Arg1101Leu) c.2897G>T (p.Arg966Leu) c.2255G>T (p.Arg752Leu) n.3680G>T | gnomAD v4 |
10 | g.71712687A= | CA1918844347 | C10orf105,CDH23 | c.3243A= (p.Arg1081=) c.*3249T= (n.*3249T=) c.2674A= c.3258A= (p.Arg1086=) n.84A= c.2018A= c.3438A= (p.Arg1146=) c.3372A= (p.Arg1124=) c.3432A= (p.Arg1144=) c.3378A= (p.Arg1126=) c.3303A= (p.Arg1101=) c.2898A= (p.Arg966=) c.2256A= (p.Arg752=) n.3681A= | |
10 | g.71712687A>C | CA470062866 | C10orf105,CDH23 | c.3243A>C (p.Arg1081=) c.*3249T>G (n.*3249T>G) c.2674A>C c.3258A>C (p.Arg1086=) n.84A>C c.2018A>C c.3438A>C (p.Arg1146=) c.3372A>C (p.Arg1124=) c.3432A>C (p.Arg1144=) c.3378A>C (p.Arg1126=) c.3303A>C (p.Arg1101=) c.2898A>C (p.Arg966=) c.2256A>C (p.Arg752=) n.3681A>C | ClinVar dbSNP |
10 | g.71712687A>G | CA470062868 | C10orf105,CDH23 | c.3243A>G (p.Arg1081=) c.*3249T>C (n.*3249T>C) c.2674A>G c.3258A>G (p.Arg1086=) n.84A>G c.2018A>G c.3438A>G (p.Arg1146=) c.3372A>G (p.Arg1124=) c.3432A>G (p.Arg1144=) c.3378A>G (p.Arg1126=) c.3303A>G (p.Arg1101=) c.2898A>G (p.Arg966=) c.2256A>G (p.Arg752=) n.3681A>G | dbSNP |
10 | g.71712687A>T | CA470062870 | C10orf105,CDH23 | c.3243A>T (p.Arg1081=) c.*3249T>A (n.*3249T>A) c.2674A>T c.3258A>T (p.Arg1086=) n.84A>T c.2018A>T c.3438A>T (p.Arg1146=) c.3372A>T (p.Arg1124=) c.3432A>T (p.Arg1144=) c.3378A>T (p.Arg1126=) c.3303A>T (p.Arg1101=) c.2898A>T (p.Arg966=) c.2256A>T (p.Arg752=) n.3681A>T | |
10 | g.71712688C>A | CA377144050 | C10orf105,CDH23 | c.3244C>A (p.His1082Asn) c.*3248G>T (n.*3248G>T) c.2675C>A c.3259C>A (p.His1087Asn) n.85C>A c.2019C>A c.3439C>A (p.His1147Asn) c.3373C>A (p.His1125Asn) c.3433C>A (p.His1145Asn) c.3379C>A (p.His1127Asn) c.3304C>A (p.His1102Asn) c.2899C>A (p.His967Asn) c.2257C>A (p.His753Asn) n.3682C>A | |
10 | g.71712688C>G | CA377144056 | C10orf105,CDH23 | c.3244C>G (p.His1082Asp) c.*3248G>C (n.*3248G>C) c.2675C>G c.3259C>G (p.His1087Asp) n.85C>G c.2019C>G c.3439C>G (p.His1147Asp) c.3373C>G (p.His1125Asp) c.3433C>G (p.His1145Asp) c.3379C>G (p.His1127Asp) c.3304C>G (p.His1102Asp) c.2899C>G (p.His967Asp) c.2257C>G (p.His753Asp) n.3682C>G | |
10 | g.71712688C>T | CA377144058 | C10orf105,CDH23 | c.3244C>T (p.His1082Tyr) c.*3248G>A (n.*3248G>A) c.2675C>T c.3259C>T (p.His1087Tyr) n.85C>T c.2019C>T c.3439C>T (p.His1147Tyr) c.3373C>T (p.His1125Tyr) c.3433C>T (p.His1145Tyr) c.3379C>T (p.His1127Tyr) c.3304C>T (p.His1102Tyr) c.2899C>T (p.His967Tyr) c.2257C>T (p.His753Tyr) n.3682C>T | |
10 | g.71712689A>C | CA377144061 | C10orf105,CDH23 | c.3245A>C (p.His1082Pro) c.*3247T>G (n.*3247T>G) c.2676A>C c.3260A>C (p.His1087Pro) n.86A>C c.2020A>C c.3440A>C (p.His1147Pro) c.3374A>C (p.His1125Pro) c.3434A>C (p.His1145Pro) c.3380A>C (p.His1127Pro) c.3305A>C (p.His1102Pro) c.2900A>C (p.His967Pro) c.2258A>C (p.His753Pro) n.3683A>C | |
10 | g.71712689A>G | CA377144065 | C10orf105,CDH23 | c.3245A>G (p.His1082Arg) c.*3247T>C (n.*3247T>C) c.2676A>G c.3260A>G (p.His1087Arg) n.86A>G c.2020A>G c.3440A>G (p.His1147Arg) c.3374A>G (p.His1125Arg) c.3434A>G (p.His1145Arg) c.3380A>G (p.His1127Arg) c.3305A>G (p.His1102Arg) c.2900A>G (p.His967Arg) c.2258A>G (p.His753Arg) n.3683A>G | |
10 | g.71712689A>T | CA377144066 | C10orf105,CDH23 | c.3245A>T (p.His1082Leu) c.*3247T>A (n.*3247T>A) c.2676A>T c.3260A>T (p.His1087Leu) n.86A>T c.2020A>T c.3440A>T (p.His1147Leu) c.3374A>T (p.His1125Leu) c.3434A>T (p.His1145Leu) c.3380A>T (p.His1127Leu) c.3305A>T (p.His1102Leu) c.2900A>T (p.His967Leu) c.2258A>T (p.His753Leu) n.3683A>T | |
10 | g.71712690C>A | CA377144067 | C10orf105,CDH23 | c.3246C>A (p.His1082Gln) c.*3246G>T (n.*3246G>T) c.2677C>A c.3261C>A (p.His1087Gln) n.87C>A c.2021C>A c.3441C>A (p.His1147Gln) c.3375C>A (p.His1125Gln) c.3435C>A (p.His1145Gln) c.3381C>A (p.His1127Gln) c.3306C>A (p.His1102Gln) c.2901C>A (p.His967Gln) c.2259C>A (p.His753Gln) n.3684C>A | |
10 | g.71712690C>G | CA377144068 | C10orf105,CDH23 | c.3246C>G (p.His1082Gln) c.*3246G>C (n.*3246G>C) c.2677C>G c.3261C>G (p.His1087Gln) n.87C>G c.2021C>G c.3441C>G (p.His1147Gln) c.3375C>G (p.His1125Gln) c.3435C>G (p.His1145Gln) c.3381C>G (p.His1127Gln) c.3306C>G (p.His1102Gln) c.2901C>G (p.His967Gln) c.2259C>G (p.His753Gln) n.3684C>G | |
10 | g.71712690C>T | CA470062874 | C10orf105,CDH23 | c.3246C>T (p.His1082=) c.*3246G>A (n.*3246G>A) c.2677C>T c.3261C>T (p.His1087=) n.87C>T c.2021C>T c.3441C>T (p.His1147=) c.3375C>T (p.His1125=) c.3435C>T (p.His1145=) c.3381C>T (p.His1127=) c.3306C>T (p.His1102=) c.2901C>T (p.His967=) c.2259C>T (p.His753=) n.3684C>T | |
10 | g.71712691A>C | CA377144071 | C10orf105,CDH23 | c.3247A>C (p.Thr1083Pro) c.*3245T>G (n.*3245T>G) c.2678A>C c.3262A>C (p.Thr1088Pro) n.88A>C c.2022A>C c.3442A>C (p.Thr1148Pro) c.3376A>C (p.Thr1126Pro) c.3436A>C (p.Thr1146Pro) c.3382A>C (p.Thr1128Pro) c.3307A>C (p.Thr1103Pro) c.2902A>C (p.Thr968Pro) c.2260A>C (p.Thr754Pro) n.3685A>C | |
10 | g.71712691A>G | CA377144078 | C10orf105,CDH23 | c.3247A>G (p.Thr1083Ala) c.*3245T>C (n.*3245T>C) c.2678A>G c.3262A>G (p.Thr1088Ala) n.88A>G c.2022A>G c.3442A>G (p.Thr1148Ala) c.3376A>G (p.Thr1126Ala) c.3436A>G (p.Thr1146Ala) c.3382A>G (p.Thr1128Ala) c.3307A>G (p.Thr1103Ala) c.2902A>G (p.Thr968Ala) c.2260A>G (p.Thr754Ala) n.3685A>G | gnomAD v4 |
10 | g.71712691A>T | CA377144081 | C10orf105,CDH23 | c.3247A>T (p.Thr1083Ser) c.*3245T>A (n.*3245T>A) c.2678A>T c.3262A>T (p.Thr1088Ser) n.88A>T c.2022A>T c.3442A>T (p.Thr1148Ser) c.3376A>T (p.Thr1126Ser) c.3436A>T (p.Thr1146Ser) c.3382A>T (p.Thr1128Ser) c.3307A>T (p.Thr1103Ser) c.2902A>T (p.Thr968Ser) c.2260A>T (p.Thr754Ser) n.3685A>T | |
10 | g.71712692C>A | CA377144085 | C10orf105,CDH23 | c.3248C>A (p.Thr1083Lys) c.*3244G>T (n.*3244G>T) c.2679C>A c.3263C>A (p.Thr1088Lys) n.89C>A c.2023C>A c.3443C>A (p.Thr1148Lys) c.3377C>A (p.Thr1126Lys) c.3437C>A (p.Thr1146Lys) c.3383C>A (p.Thr1128Lys) c.3308C>A (p.Thr1103Lys) c.2903C>A (p.Thr968Lys) c.2261C>A (p.Thr754Lys) n.3686C>A | gnomAD v4 |
10 | g.71712692C= | CA1918844350 | C10orf105,CDH23 | c.3248C= (p.Thr1083=) c.*3244G= (n.*3244G=) c.2679C= c.3263C= (p.Thr1088=) n.89C= c.2023C= c.3443C= (p.Thr1148=) c.3377C= (p.Thr1126=) c.3437C= (p.Thr1146=) c.3383C= (p.Thr1128=) c.3308C= (p.Thr1103=) c.2903C= (p.Thr968=) c.2261C= (p.Thr754=) n.3686C= | |
10 | g.71712692C>G | CA377144089 | C10orf105,CDH23 | c.3248C>G (p.Thr1083Arg) c.*3244G>C (n.*3244G>C) c.2679C>G c.3263C>G (p.Thr1088Arg) n.89C>G c.2023C>G c.3443C>G (p.Thr1148Arg) c.3377C>G (p.Thr1126Arg) c.3437C>G (p.Thr1146Arg) c.3383C>G (p.Thr1128Arg) c.3308C>G (p.Thr1103Arg) c.2903C>G (p.Thr968Arg) c.2261C>G (p.Thr754Arg) n.3686C>G | ClinVar dbSNP gnomAD v4 |
10 | g.71712692C>T | CA5544535 | C10orf105,CDH23 | c.3248C>T (p.Thr1083Met) c.*3244G>A (n.*3244G>A) c.2679C>T c.3263C>T (p.Thr1088Met) n.89C>T c.2023C>T c.3443C>T (p.Thr1148Met) c.3377C>T (p.Thr1126Met) c.3437C>T (p.Thr1146Met) c.3383C>T (p.Thr1128Met) c.3308C>T (p.Thr1103Met) c.2903C>T (p.Thr968Met) c.2261C>T (p.Thr754Met) n.3686C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.71712693G>A | CA137360 | C10orf105,CDH23 | c.3249G>A (p.Thr1083=) c.*3243C>T (n.*3243C>T) c.2680G>A c.3264G>A (p.Thr1088=) n.90G>A c.2024G>A c.3444G>A (p.Thr1148=) c.3378G>A (p.Thr1126=) c.3438G>A (p.Thr1146=) c.3384G>A (p.Thr1128=) c.3309G>A (p.Thr1103=) c.2904G>A (p.Thr968=) c.2262G>A (p.Thr754=) n.3687G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712693G>C | CA470062880 | C10orf105,CDH23 | c.3249G>C (p.Thr1083=) c.*3243C>G (n.*3243C>G) c.2680G>C c.3264G>C (p.Thr1088=) n.90G>C c.2024G>C c.3444G>C (p.Thr1148=) c.3378G>C (p.Thr1126=) c.3438G>C (p.Thr1146=) c.3384G>C (p.Thr1128=) c.3309G>C (p.Thr1103=) c.2904G>C (p.Thr968=) c.2262G>C (p.Thr754=) n.3687G>C | |
10 | g.71712693G= | CA1918844353 | C10orf105,CDH23 | c.3249G= (p.Thr1083=) c.*3243C= (n.*3243C=) c.2680G= c.3264G= (p.Thr1088=) n.90G= c.2024G= c.3444G= (p.Thr1148=) c.3378G= (p.Thr1126=) c.3438G= (p.Thr1146=) c.3384G= (p.Thr1128=) c.3309G= (p.Thr1103=) c.2904G= (p.Thr968=) c.2262G= (p.Thr754=) n.3687G= | |
10 | g.71712693G>T | CA470062882 | C10orf105,CDH23 | c.3249G>T (p.Thr1083=) c.*3243C>A (n.*3243C>A) c.2680G>T c.3264G>T (p.Thr1088=) n.90G>T c.2024G>T c.3444G>T (p.Thr1148=) c.3378G>T (p.Thr1126=) c.3438G>T (p.Thr1146=) c.3384G>T (p.Thr1128=) c.3309G>T (p.Thr1103=) c.2904G>T (p.Thr968=) c.2262G>T (p.Thr754=) n.3687G>T | |
10 | g.71712695dup | CA209465130 | C10orf105,CDH23 | c.3251dup (p.Thr1085HisfsTer13) c.*3243dup (n.*3243dup) c.2682dup c.3266dup (p.Thr1090HisfsTer13) n.92dup c.2026dup c.3446dup (p.Thr1150HisfsTer13) c.3380dup (p.Thr1128HisfsTer13) c.3440dup (p.Thr1148HisfsTer13) c.3386dup (p.Thr1130HisfsTer13) c.3311dup (p.Thr1105HisfsTer13) c.2906dup (p.Thr970HisfsTer13) c.2264dup (p.Thr756HisfsTer13) n.3689dup | dbSNP |
10 | g.71712694G>A | CA377144099 | C10orf105,CDH23 | c.3250G>A (p.Gly1084Ser) c.*3242C>T (n.*3242C>T) c.2681G>A c.3265G>A (p.Gly1089Ser) n.91G>A c.2025G>A c.3445G>A (p.Gly1149Ser) c.3379G>A (p.Gly1127Ser) c.3439G>A (p.Gly1147Ser) c.3385G>A (p.Gly1129Ser) c.3310G>A (p.Gly1104Ser) c.2905G>A (p.Gly969Ser) c.2263G>A (p.Gly755Ser) n.3688G>A | COSMIC COSMIC |
10 | g.71712694G>C | CA377144103 | C10orf105,CDH23 | c.3250G>C (p.Gly1084Arg) c.*3242C>G (n.*3242C>G) c.2681G>C c.3265G>C (p.Gly1089Arg) n.91G>C c.2025G>C c.3445G>C (p.Gly1149Arg) c.3379G>C (p.Gly1127Arg) c.3439G>C (p.Gly1147Arg) c.3385G>C (p.Gly1129Arg) c.3310G>C (p.Gly1104Arg) c.2905G>C (p.Gly969Arg) c.2263G>C (p.Gly755Arg) n.3688G>C | |
10 | g.71712694G= | CA1918844357 | C10orf105,CDH23 | c.3250G= (p.Gly1084=) c.*3242C= (n.*3242C=) c.2681G= c.3265G= (p.Gly1089=) n.91G= c.2025G= c.3445G= (p.Gly1149=) c.3379G= (p.Gly1127=) c.3439G= (p.Gly1147=) c.3385G= (p.Gly1129=) c.3310G= (p.Gly1104=) c.2905G= (p.Gly969=) c.2263G= (p.Gly755=) n.3688G= | |
10 | g.71712694G>T | CA16618980 | C10orf105,CDH23 | c.3250G>T (p.Gly1084Cys) c.*3242C>A (n.*3242C>A) c.2681G>T c.3265G>T (p.Gly1089Cys) n.91G>T c.2025G>T c.3445G>T (p.Gly1149Cys) c.3379G>T (p.Gly1127Cys) c.3439G>T (p.Gly1147Cys) c.3385G>T (p.Gly1129Cys) c.3310G>T (p.Gly1104Cys) c.2905G>T (p.Gly969Cys) c.2263G>T (p.Gly755Cys) n.3688G>T | ClinVar dbSNP |
10 | g.71712695G>A | CA5544536 | C10orf105,CDH23 | c.3251G>A (p.Gly1084Asp) c.*3241C>T (n.*3241C>T) c.2682G>A c.3266G>A (p.Gly1089Asp) n.92G>A c.2026G>A c.3446G>A (p.Gly1149Asp) c.3380G>A (p.Gly1127Asp) c.3440G>A (p.Gly1147Asp) c.3386G>A (p.Gly1129Asp) c.3311G>A (p.Gly1104Asp) c.2906G>A (p.Gly969Asp) c.2264G>A (p.Gly755Asp) n.3689G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712695G>C | CA377144114 | C10orf105,CDH23 | c.3251G>C (p.Gly1084Ala) c.*3241C>G (n.*3241C>G) c.2682G>C c.3266G>C (p.Gly1089Ala) n.92G>C c.2026G>C c.3446G>C (p.Gly1149Ala) c.3380G>C (p.Gly1127Ala) c.3440G>C (p.Gly1147Ala) c.3386G>C (p.Gly1129Ala) c.3311G>C (p.Gly1104Ala) c.2906G>C (p.Gly969Ala) c.2264G>C (p.Gly755Ala) n.3689G>C | |
10 | g.71712695G= | CA1918844359 | C10orf105,CDH23 | c.3251G= (p.Gly1084=) c.*3241C= (n.*3241C=) c.2682G= c.3266G= (p.Gly1089=) n.92G= c.2026G= c.3446G= (p.Gly1149=) c.3380G= (p.Gly1127=) c.3440G= (p.Gly1147=) c.3386G= (p.Gly1129=) c.3311G= (p.Gly1104=) c.2906G= (p.Gly969=) c.2264G= (p.Gly755=) n.3689G= | |
10 | g.71712695G>T | CA377144111 | C10orf105,CDH23 | c.3251G>T (p.Gly1084Val) c.*3241C>A (n.*3241C>A) c.2682G>T c.3266G>T (p.Gly1089Val) n.92G>T c.2026G>T c.3446G>T (p.Gly1149Val) c.3380G>T (p.Gly1127Val) c.3440G>T (p.Gly1147Val) c.3386G>T (p.Gly1129Val) c.3311G>T (p.Gly1104Val) c.2906G>T (p.Gly969Val) c.2264G>T (p.Gly755Val) n.3689G>T | |
10 | g.71712696C>A | CA470062890 | C10orf105,CDH23 | c.3252C>A (p.Gly1084=) c.*3240G>T (n.*3240G>T) c.2683C>A c.3267C>A (p.Gly1089=) n.93C>A c.2027C>A c.3447C>A (p.Gly1149=) c.3381C>A (p.Gly1127=) c.3441C>A (p.Gly1147=) c.3387C>A (p.Gly1129=) c.3312C>A (p.Gly1104=) c.2907C>A (p.Gly969=) c.2265C>A (p.Gly755=) n.3690C>A | |
10 | g.71712696C>G | CA470062892 | C10orf105,CDH23 | c.3252C>G (p.Gly1084=) c.*3240G>C (n.*3240G>C) c.2683C>G c.3267C>G (p.Gly1089=) n.93C>G c.2027C>G c.3447C>G (p.Gly1149=) c.3381C>G (p.Gly1127=) c.3441C>G (p.Gly1147=) c.3387C>G (p.Gly1129=) c.3312C>G (p.Gly1104=) c.2907C>G (p.Gly969=) c.2265C>G (p.Gly755=) n.3690C>G | |
10 | g.71712696C>T | CA470062894 | C10orf105,CDH23 | c.3252C>T (p.Gly1084=) c.*3240G>A (n.*3240G>A) c.2683C>T c.3267C>T (p.Gly1089=) n.93C>T c.2027C>T c.3447C>T (p.Gly1149=) c.3381C>T (p.Gly1127=) c.3441C>T (p.Gly1147=) c.3387C>T (p.Gly1129=) c.3312C>T (p.Gly1104=) c.2907C>T (p.Gly969=) c.2265C>T (p.Gly755=) n.3690C>T | |
10 | g.71712697A>C | CA377144117 | C10orf105,CDH23 | c.3253A>C (p.Thr1085Pro) c.*3239T>G (n.*3239T>G) c.2684A>C c.3268A>C (p.Thr1090Pro) n.94A>C c.2028A>C c.3448A>C (p.Thr1150Pro) c.3382A>C (p.Thr1128Pro) c.3442A>C (p.Thr1148Pro) c.3388A>C (p.Thr1130Pro) c.3313A>C (p.Thr1105Pro) c.2908A>C (p.Thr970Pro) c.2266A>C (p.Thr756Pro) n.3691A>C | |
10 | g.71712697A>G | CA377144122 | C10orf105,CDH23 | c.3253A>G (p.Thr1085Ala) c.*3239T>C (n.*3239T>C) c.2684A>G c.3268A>G (p.Thr1090Ala) n.94A>G c.2028A>G c.3448A>G (p.Thr1150Ala) c.3382A>G (p.Thr1128Ala) c.3442A>G (p.Thr1148Ala) c.3388A>G (p.Thr1130Ala) c.3313A>G (p.Thr1105Ala) c.2908A>G (p.Thr970Ala) c.2266A>G (p.Thr756Ala) n.3691A>G | |
10 | g.71712697A>T | CA377144120 | C10orf105,CDH23 | c.3253A>T (p.Thr1085Ser) c.*3239T>A (n.*3239T>A) c.2684A>T c.3268A>T (p.Thr1090Ser) n.94A>T c.2028A>T c.3448A>T (p.Thr1150Ser) c.3382A>T (p.Thr1128Ser) c.3442A>T (p.Thr1148Ser) c.3388A>T (p.Thr1130Ser) c.3313A>T (p.Thr1105Ser) c.2908A>T (p.Thr970Ser) c.2266A>T (p.Thr756Ser) n.3691A>T | |
10 | g.71712698C>A | CA377144124 | C10orf105,CDH23 | c.3254C>A (p.Thr1085Lys) c.*3238G>T (n.*3238G>T) c.2685C>A c.3269C>A (p.Thr1090Lys) n.95C>A c.2029C>A c.3449C>A (p.Thr1150Lys) c.3383C>A (p.Thr1128Lys) c.3443C>A (p.Thr1148Lys) c.3389C>A (p.Thr1130Lys) c.3314C>A (p.Thr1105Lys) c.2909C>A (p.Thr970Lys) c.2267C>A (p.Thr756Lys) n.3692C>A | gnomAD v4 |
10 | g.71712698C= | CA1918844360 | C10orf105,CDH23 | c.3254C= (p.Thr1085=) c.*3238G= (n.*3238G=) c.2685C= c.3269C= (p.Thr1090=) n.95C= c.2029C= c.3449C= (p.Thr1150=) c.3383C= (p.Thr1128=) c.3443C= (p.Thr1148=) c.3389C= (p.Thr1130=) c.3314C= (p.Thr1105=) c.2909C= (p.Thr970=) c.2267C= (p.Thr756=) n.3692C= | |
10 | g.71712698C>G | CA377144127 | C10orf105,CDH23 | c.3254C>G (p.Thr1085Arg) c.*3238G>C (n.*3238G>C) c.2685C>G c.3269C>G (p.Thr1090Arg) n.95C>G c.2029C>G c.3449C>G (p.Thr1150Arg) c.3383C>G (p.Thr1128Arg) c.3443C>G (p.Thr1148Arg) c.3389C>G (p.Thr1130Arg) c.3314C>G (p.Thr1105Arg) c.2909C>G (p.Thr970Arg) c.2267C>G (p.Thr756Arg) n.3692C>G | |
10 | g.71712698C>T | CA5544537 | C10orf105,CDH23 | c.3254C>T (p.Thr1085Ile) c.*3238G>A (n.*3238G>A) c.2685C>T c.3269C>T (p.Thr1090Ile) n.95C>T c.2029C>T c.3449C>T (p.Thr1150Ile) c.3383C>T (p.Thr1128Ile) c.3443C>T (p.Thr1148Ile) c.3389C>T (p.Thr1130Ile) c.3314C>T (p.Thr1105Ile) c.2909C>T (p.Thr970Ile) c.2267C>T (p.Thr756Ile) n.3692C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712699A>C | CA470062902 | C10orf105,CDH23 | c.3255A>C (p.Thr1085=) c.*3237T>G (n.*3237T>G) c.2686A>C c.3270A>C (p.Thr1090=) n.96A>C c.2030A>C c.3450A>C (p.Thr1150=) c.3384A>C (p.Thr1128=) c.3444A>C (p.Thr1148=) c.3390A>C (p.Thr1130=) c.3315A>C (p.Thr1105=) c.2910A>C (p.Thr970=) c.2268A>C (p.Thr756=) n.3693A>C | |
10 | g.71712699A>G | CA470062903 | C10orf105,CDH23 | c.3255A>G (p.Thr1085=) c.*3237T>C (n.*3237T>C) c.2686A>G c.3270A>G (p.Thr1090=) n.96A>G c.2030A>G c.3450A>G (p.Thr1150=) c.3384A>G (p.Thr1128=) c.3444A>G (p.Thr1148=) c.3390A>G (p.Thr1130=) c.3315A>G (p.Thr1105=) c.2910A>G (p.Thr970=) c.2268A>G (p.Thr756=) n.3693A>G | |
10 | g.71712699A>T | CA470062905 | C10orf105,CDH23 | c.3255A>T (p.Thr1085=) c.*3237T>A (n.*3237T>A) c.2686A>T c.3270A>T (p.Thr1090=) n.96A>T c.2030A>T c.3450A>T (p.Thr1150=) c.3384A>T (p.Thr1128=) c.3444A>T (p.Thr1148=) c.3390A>T (p.Thr1130=) c.3315A>T (p.Thr1105=) c.2910A>T (p.Thr970=) c.2268A>T (p.Thr756=) n.3693A>T | |
10 | g.71712700G>A | CA377144136 | C10orf105,CDH23 | c.3256G>A (p.Ala1086Thr) c.*3236C>T (n.*3236C>T) c.2687G>A c.3271G>A (p.Ala1091Thr) n.97G>A c.2031G>A c.3451G>A (p.Ala1151Thr) c.3385G>A (p.Ala1129Thr) c.3445G>A (p.Ala1149Thr) c.3391G>A (p.Ala1131Thr) c.3316G>A (p.Ala1106Thr) c.2911G>A (p.Ala971Thr) c.2269G>A (p.Ala757Thr) n.3694G>A | gnomAD v4 |
10 | g.71712700G>C | CA377144142 | C10orf105,CDH23 | c.3256G>C (p.Ala1086Pro) c.*3236C>G (n.*3236C>G) c.2687G>C c.3271G>C (p.Ala1091Pro) n.97G>C c.2031G>C c.3451G>C (p.Ala1151Pro) c.3385G>C (p.Ala1129Pro) c.3445G>C (p.Ala1149Pro) c.3391G>C (p.Ala1131Pro) c.3316G>C (p.Ala1106Pro) c.2911G>C (p.Ala971Pro) c.2269G>C (p.Ala757Pro) n.3694G>C | |
10 | g.71712700G>T | CA377144146 | C10orf105,CDH23 | c.3256G>T (p.Ala1086Ser) c.*3236C>A (n.*3236C>A) c.2687G>T c.3271G>T (p.Ala1091Ser) n.97G>T c.2031G>T c.3451G>T (p.Ala1151Ser) c.3385G>T (p.Ala1129Ser) c.3445G>T (p.Ala1149Ser) c.3391G>T (p.Ala1131Ser) c.3316G>T (p.Ala1106Ser) c.2911G>T (p.Ala971Ser) c.2269G>T (p.Ala757Ser) n.3694G>T | |
10 | g.71712701C>A | CA377144148 | C10orf105,CDH23 | c.3257C>A (p.Ala1086Asp) c.*3235G>T (n.*3235G>T) c.2688C>A c.3272C>A (p.Ala1091Asp) n.98C>A c.2032C>A c.3452C>A (p.Ala1151Asp) c.3386C>A (p.Ala1129Asp) c.3446C>A (p.Ala1149Asp) c.3392C>A (p.Ala1131Asp) c.3317C>A (p.Ala1106Asp) c.2912C>A (p.Ala971Asp) c.2270C>A (p.Ala757Asp) n.3695C>A | |
10 | g.71712701C>G | CA377144153 | C10orf105,CDH23 | c.3257C>G (p.Ala1086Gly) c.*3235G>C (n.*3235G>C) c.2688C>G c.3272C>G (p.Ala1091Gly) n.98C>G c.2032C>G c.3452C>G (p.Ala1151Gly) c.3386C>G (p.Ala1129Gly) c.3446C>G (p.Ala1149Gly) c.3392C>G (p.Ala1131Gly) c.3317C>G (p.Ala1106Gly) c.2912C>G (p.Ala971Gly) c.2270C>G (p.Ala757Gly) n.3695C>G | |
10 | g.71712701C>T | CA377144155 | C10orf105,CDH23 | c.3257C>T (p.Ala1086Val) c.*3235G>A (n.*3235G>A) c.2688C>T c.3272C>T (p.Ala1091Val) n.98C>T c.2032C>T c.3452C>T (p.Ala1151Val) c.3386C>T (p.Ala1129Val) c.3446C>T (p.Ala1149Val) c.3392C>T (p.Ala1131Val) c.3317C>T (p.Ala1106Val) c.2912C>T (p.Ala971Val) c.2270C>T (p.Ala757Val) n.3695C>T | |
10 | g.71712702C>A | CA470062910 | C10orf105,CDH23 | c.3258C>A (p.Ala1086=) c.*3234G>T (n.*3234G>T) c.2689C>A c.3273C>A (p.Ala1091=) n.99C>A c.2033C>A c.3453C>A (p.Ala1151=) c.3387C>A (p.Ala1129=) c.3447C>A (p.Ala1149=) c.3393C>A (p.Ala1131=) c.3318C>A (p.Ala1106=) c.2913C>A (p.Ala971=) c.2271C>A (p.Ala757=) n.3696C>A | |
10 | g.71712702C>G | CA470062911 | C10orf105,CDH23 | c.3258C>G (p.Ala1086=) c.*3234G>C (n.*3234G>C) c.2689C>G c.3273C>G (p.Ala1091=) n.99C>G c.2033C>G c.3453C>G (p.Ala1151=) c.3387C>G (p.Ala1129=) c.3447C>G (p.Ala1149=) c.3393C>G (p.Ala1131=) c.3318C>G (p.Ala1106=) c.2913C>G (p.Ala971=) c.2271C>G (p.Ala757=) n.3696C>G | |
10 | g.71712702C>T | CA470062912 | C10orf105,CDH23 | c.3258C>T (p.Ala1086=) c.*3234G>A (n.*3234G>A) c.2689C>T c.3273C>T (p.Ala1091=) n.99C>T c.2033C>T c.3453C>T (p.Ala1151=) c.3387C>T (p.Ala1129=) c.3447C>T (p.Ala1149=) c.3393C>T (p.Ala1131=) c.3318C>T (p.Ala1106=) c.2913C>T (p.Ala971=) c.2271C>T (p.Ala757=) n.3696C>T | |
10 | g.71712703A>C | CA377144158 | C10orf105,CDH23 | c.3259A>C (p.Thr1087Pro) c.*3233T>G (n.*3233T>G) c.2690A>C c.3274A>C (p.Thr1092Pro) n.100A>C c.2034A>C c.3454A>C (p.Thr1152Pro) c.3388A>C (p.Thr1130Pro) c.3448A>C (p.Thr1150Pro) c.3394A>C (p.Thr1132Pro) c.3319A>C (p.Thr1107Pro) c.2914A>C (p.Thr972Pro) c.2272A>C (p.Thr758Pro) n.3697A>C | |
10 | g.71712703A>G | CA377144160 | C10orf105,CDH23 | c.3259A>G (p.Thr1087Ala) c.*3233T>C (n.*3233T>C) c.2690A>G c.3274A>G (p.Thr1092Ala) n.100A>G c.2034A>G c.3454A>G (p.Thr1152Ala) c.3388A>G (p.Thr1130Ala) c.3448A>G (p.Thr1150Ala) c.3394A>G (p.Thr1132Ala) c.3319A>G (p.Thr1107Ala) c.2914A>G (p.Thr972Ala) c.2272A>G (p.Thr758Ala) n.3697A>G | |
10 | g.71712703A>T | CA377144161 | C10orf105,CDH23 | c.3259A>T (p.Thr1087Ser) c.*3233T>A (n.*3233T>A) c.2690A>T c.3274A>T (p.Thr1092Ser) n.100A>T c.2034A>T c.3454A>T (p.Thr1152Ser) c.3388A>T (p.Thr1130Ser) c.3448A>T (p.Thr1150Ser) c.3394A>T (p.Thr1132Ser) c.3319A>T (p.Thr1107Ser) c.2914A>T (p.Thr972Ser) c.2272A>T (p.Thr758Ser) n.3697A>T | |
10 | g.71712704C>A | CA377144164 | C10orf105,CDH23 | c.3260C>A (p.Thr1087Asn) c.*3232G>T (n.*3232G>T) c.2691C>A c.3275C>A (p.Thr1092Asn) n.101C>A c.2035C>A c.3455C>A (p.Thr1152Asn) c.3389C>A (p.Thr1130Asn) c.3449C>A (p.Thr1150Asn) c.3395C>A (p.Thr1132Asn) c.3320C>A (p.Thr1107Asn) c.2915C>A (p.Thr972Asn) c.2273C>A (p.Thr758Asn) n.3698C>A | |
10 | g.71712704C>G | CA377144163 | C10orf105,CDH23 | c.3260C>G (p.Thr1087Ser) c.*3232G>C (n.*3232G>C) c.2691C>G c.3275C>G (p.Thr1092Ser) n.101C>G c.2035C>G c.3455C>G (p.Thr1152Ser) c.3389C>G (p.Thr1130Ser) c.3449C>G (p.Thr1150Ser) c.3395C>G (p.Thr1132Ser) c.3320C>G (p.Thr1107Ser) c.2915C>G (p.Thr972Ser) c.2273C>G (p.Thr758Ser) n.3698C>G | |
10 | g.71712704C>T | CA377144162 | C10orf105,CDH23 | c.3260C>T (p.Thr1087Ile) c.*3232G>A (n.*3232G>A) c.2691C>T c.3275C>T (p.Thr1092Ile) n.101C>T c.2035C>T c.3455C>T (p.Thr1152Ile) c.3389C>T (p.Thr1130Ile) c.3449C>T (p.Thr1150Ile) c.3395C>T (p.Thr1132Ile) c.3320C>T (p.Thr1107Ile) c.2915C>T (p.Thr972Ile) c.2273C>T (p.Thr758Ile) n.3698C>T | |
10 | g.71712705C>A | CA470062919 | C10orf105,CDH23 | c.3261C>A (p.Thr1087=) c.*3231G>T (n.*3231G>T) c.2692C>A c.3276C>A (p.Thr1092=) n.102C>A c.2036C>A c.3456C>A (p.Thr1152=) c.3390C>A (p.Thr1130=) c.3450C>A (p.Thr1150=) c.3396C>A (p.Thr1132=) c.3321C>A (p.Thr1107=) c.2916C>A (p.Thr972=) c.2274C>A (p.Thr758=) n.3699C>A | |
10 | g.71712705C= | CA1918844361 | C10orf105,CDH23 | c.3261C= (p.Thr1087=) c.*3231G= (n.*3231G=) c.2692C= c.3276C= (p.Thr1092=) n.102C= c.2036C= c.3456C= (p.Thr1152=) c.3390C= (p.Thr1130=) c.3450C= (p.Thr1150=) c.3396C= (p.Thr1132=) c.3321C= (p.Thr1107=) c.2916C= (p.Thr972=) c.2274C= (p.Thr758=) n.3699C= | |
10 | g.71712705C>G | CA470062918 | C10orf105,CDH23 | c.3261C>G (p.Thr1087=) c.*3231G>C (n.*3231G>C) c.2692C>G c.3276C>G (p.Thr1092=) n.102C>G c.2036C>G c.3456C>G (p.Thr1152=) c.3390C>G (p.Thr1130=) c.3450C>G (p.Thr1150=) c.3396C>G (p.Thr1132=) c.3321C>G (p.Thr1107=) c.2916C>G (p.Thr972=) c.2274C>G (p.Thr758=) n.3699C>G | ClinVar dbSNP gnomAD v4 |
10 | g.71712705C>T | CA5544538 | C10orf105,CDH23 | c.3261C>T (p.Thr1087=) c.*3231G>A (n.*3231G>A) c.2692C>T c.3276C>T (p.Thr1092=) n.102C>T c.2036C>T c.3456C>T (p.Thr1152=) c.3390C>T (p.Thr1130=) c.3450C>T (p.Thr1150=) c.3396C>T (p.Thr1132=) c.3321C>T (p.Thr1107=) c.2916C>T (p.Thr972=) c.2274C>T (p.Thr758=) n.3699C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712706G>A | CA137362 | C10orf105,CDH23 | c.3262G>A (p.Val1088Met) c.*3230C>T (n.*3230C>T) c.2693G>A c.3277G>A (p.Val1093Met) n.103G>A c.2037G>A c.3457G>A (p.Val1153Met) c.3391G>A (p.Val1131Met) c.3451G>A (p.Val1151Met) c.3397G>A (p.Val1133Met) c.3322G>A (p.Val1108Met) c.2917G>A (p.Val973Met) c.2275G>A (p.Val759Met) n.3700G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712706G>C | CA377144167 | C10orf105,CDH23 | c.3262G>C (p.Val1088Leu) c.*3230C>G (n.*3230C>G) c.2693G>C c.3277G>C (p.Val1093Leu) n.103G>C c.2037G>C c.3457G>C (p.Val1153Leu) c.3391G>C (p.Val1131Leu) c.3451G>C (p.Val1151Leu) c.3397G>C (p.Val1133Leu) c.3322G>C (p.Val1108Leu) c.2917G>C (p.Val973Leu) c.2275G>C (p.Val759Leu) n.3700G>C | gnomAD v4 |
10 | g.71712706G= | CA1918844365 | C10orf105,CDH23 | c.3262G= (p.Val1088=) c.*3230C= (n.*3230C=) c.2693G= c.3277G= (p.Val1093=) n.103G= c.2037G= c.3457G= (p.Val1153=) c.3391G= (p.Val1131=) c.3451G= (p.Val1151=) c.3397G= (p.Val1133=) c.3322G= (p.Val1108=) c.2917G= (p.Val973=) c.2275G= (p.Val759=) n.3700G= | |
10 | g.71712706G>T | CA377144170 | C10orf105,CDH23 | c.3262G>T (p.Val1088Leu) c.*3230C>A (n.*3230C>A) c.2693G>T c.3277G>T (p.Val1093Leu) n.103G>T c.2037G>T c.3457G>T (p.Val1153Leu) c.3391G>T (p.Val1131Leu) c.3451G>T (p.Val1151Leu) c.3397G>T (p.Val1133Leu) c.3322G>T (p.Val1108Leu) c.2917G>T (p.Val973Leu) c.2275G>T (p.Val759Leu) n.3700G>T | |
10 | g.71712707T>A | CA377144180 | C10orf105,CDH23 | c.3263T>A (p.Val1088Glu) c.*3229A>T (n.*3229A>T) c.2694T>A c.3278T>A (p.Val1093Glu) n.104T>A c.2038T>A c.3458T>A (p.Val1153Glu) c.3392T>A (p.Val1131Glu) c.3452T>A (p.Val1151Glu) c.3398T>A (p.Val1133Glu) c.3323T>A (p.Val1108Glu) c.2918T>A (p.Val973Glu) c.2276T>A (p.Val759Glu) n.3701T>A | |
10 | g.71712707T>C | CA377144183 | C10orf105,CDH23 | c.3263T>C (p.Val1088Ala) c.*3229A>G (n.*3229A>G) c.2694T>C c.3278T>C (p.Val1093Ala) n.104T>C c.2038T>C c.3458T>C (p.Val1153Ala) c.3392T>C (p.Val1131Ala) c.3452T>C (p.Val1151Ala) c.3398T>C (p.Val1133Ala) c.3323T>C (p.Val1108Ala) c.2918T>C (p.Val973Ala) c.2276T>C (p.Val759Ala) n.3701T>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712707T>G | CA377144191 | C10orf105,CDH23 | c.3263T>G (p.Val1088Gly) c.*3229A>C (n.*3229A>C) c.2694T>G c.3278T>G (p.Val1093Gly) n.104T>G c.2038T>G c.3458T>G (p.Val1153Gly) c.3392T>G (p.Val1131Gly) c.3452T>G (p.Val1151Gly) c.3398T>G (p.Val1133Gly) c.3323T>G (p.Val1108Gly) c.2918T>G (p.Val973Gly) c.2276T>G (p.Val759Gly) n.3701T>G | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712707T= | CA1918844370 | C10orf105,CDH23 | c.3263T= (p.Val1088=) c.*3229A= (n.*3229A=) c.2694T= c.3278T= (p.Val1093=) n.104T= c.2038T= c.3458T= (p.Val1153=) c.3392T= (p.Val1131=) c.3452T= (p.Val1151=) c.3398T= (p.Val1133=) c.3323T= (p.Val1108=) c.2918T= (p.Val973=) c.2276T= (p.Val759=) n.3701T= | |
10 | g.71712708G>A | CA470062925 | C10orf105,CDH23 | c.3264G>A (p.Val1088=) c.*3228C>T (n.*3228C>T) c.2695G>A c.3279G>A (p.Val1093=) n.105G>A c.2039G>A c.3459G>A (p.Val1153=) c.3393G>A (p.Val1131=) c.3453G>A (p.Val1151=) c.3399G>A (p.Val1133=) c.3324G>A (p.Val1108=) c.2919G>A (p.Val973=) c.2277G>A (p.Val759=) n.3702G>A | |
10 | g.71712708G>C | CA470062924 | C10orf105,CDH23 | c.3264G>C (p.Val1088=) c.*3228C>G (n.*3228C>G) c.2695G>C c.3279G>C (p.Val1093=) n.105G>C c.2039G>C c.3459G>C (p.Val1153=) c.3393G>C (p.Val1131=) c.3453G>C (p.Val1151=) c.3399G>C (p.Val1133=) c.3324G>C (p.Val1108=) c.2919G>C (p.Val973=) c.2277G>C (p.Val759=) n.3702G>C | |
10 | g.71712708G>T | CA470062922 | C10orf105,CDH23 | c.3264G>T (p.Val1088=) c.*3228C>A (n.*3228C>A) c.2695G>T c.3279G>T (p.Val1093=) n.105G>T c.2039G>T c.3459G>T (p.Val1153=) c.3393G>T (p.Val1131=) c.3453G>T (p.Val1151=) c.3399G>T (p.Val1133=) c.3324G>T (p.Val1108=) c.2919G>T (p.Val973=) c.2277G>T (p.Val759=) n.3702G>T | |
10 | g.71712709T>A | CA377144196 | C10orf105,CDH23 | c.3265T>A (p.Phe1089Ile) c.*3227A>T (n.*3227A>T) c.2696T>A c.3280T>A (p.Phe1094Ile) n.106T>A c.2040T>A c.3460T>A (p.Phe1154Ile) c.3394T>A (p.Phe1132Ile) c.3454T>A (p.Phe1152Ile) c.3400T>A (p.Phe1134Ile) c.3325T>A (p.Phe1109Ile) c.2920T>A (p.Phe974Ile) c.2278T>A (p.Phe760Ile) n.3703T>A | |
10 | g.71712709T>C | CA377144204 | C10orf105,CDH23 | c.3265T>C (p.Phe1089Leu) c.*3227A>G (n.*3227A>G) c.2696T>C c.3280T>C (p.Phe1094Leu) n.106T>C c.2040T>C c.3460T>C (p.Phe1154Leu) c.3394T>C (p.Phe1132Leu) c.3454T>C (p.Phe1152Leu) c.3400T>C (p.Phe1134Leu) c.3325T>C (p.Phe1109Leu) c.2920T>C (p.Phe974Leu) c.2278T>C (p.Phe760Leu) n.3703T>C | |
10 | g.71712709T>G | CA377144206 | C10orf105,CDH23 | c.3265T>G (p.Phe1089Val) c.*3227A>C (n.*3227A>C) c.2696T>G c.3280T>G (p.Phe1094Val) n.106T>G c.2040T>G c.3460T>G (p.Phe1154Val) c.3394T>G (p.Phe1132Val) c.3454T>G (p.Phe1152Val) c.3400T>G (p.Phe1134Val) c.3325T>G (p.Phe1109Val) c.2920T>G (p.Phe974Val) c.2278T>G (p.Phe760Val) n.3703T>G | |
10 | g.71712710T>A | CA377144209 | C10orf105,CDH23 | c.3266T>A (p.Phe1089Tyr) c.*3226A>T (n.*3226A>T) c.2697T>A c.3281T>A (p.Phe1094Tyr) n.107T>A c.2041T>A c.3461T>A (p.Phe1154Tyr) c.3395T>A (p.Phe1132Tyr) c.3455T>A (p.Phe1152Tyr) c.3401T>A (p.Phe1134Tyr) c.3326T>A (p.Phe1109Tyr) c.2921T>A (p.Phe974Tyr) c.2279T>A (p.Phe760Tyr) n.3704T>A | |
10 | g.71712710T>C | CA5544539 | C10orf105,CDH23 | c.3266T>C (p.Phe1089Ser) c.*3226A>G (n.*3226A>G) c.2697T>C c.3281T>C (p.Phe1094Ser) n.107T>C c.2041T>C c.3461T>C (p.Phe1154Ser) c.3395T>C (p.Phe1132Ser) c.3455T>C (p.Phe1152Ser) c.3401T>C (p.Phe1134Ser) c.3326T>C (p.Phe1109Ser) c.2921T>C (p.Phe974Ser) c.2279T>C (p.Phe760Ser) n.3704T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712710T>G | CA5544540 | C10orf105,CDH23 | c.3266T>G (p.Phe1089Cys) c.*3226A>C (n.*3226A>C) c.2697T>G c.3281T>G (p.Phe1094Cys) n.107T>G c.2041T>G c.3461T>G (p.Phe1154Cys) c.3395T>G (p.Phe1132Cys) c.3455T>G (p.Phe1152Cys) c.3401T>G (p.Phe1134Cys) c.3326T>G (p.Phe1109Cys) c.2921T>G (p.Phe974Cys) c.2279T>G (p.Phe760Cys) n.3704T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712710T= | CA1918844373 | C10orf105,CDH23 | c.3266T= (p.Phe1089=) c.*3226A= (n.*3226A=) c.2697T= c.3281T= (p.Phe1094=) n.107T= c.2041T= c.3461T= (p.Phe1154=) c.3395T= (p.Phe1132=) c.3455T= (p.Phe1152=) c.3401T= (p.Phe1134=) c.3326T= (p.Phe1109=) c.2921T= (p.Phe974=) c.2279T= (p.Phe760=) n.3704T= | |
10 | g.71712711C>A | CA377144217 | C10orf105,CDH23 | c.3267C>A (p.Phe1089Leu) c.*3225G>T (n.*3225G>T) c.2698C>A c.3282C>A (p.Phe1094Leu) n.108C>A c.2042C>A c.3462C>A (p.Phe1154Leu) c.3396C>A (p.Phe1132Leu) c.3456C>A (p.Phe1152Leu) c.3402C>A (p.Phe1134Leu) c.3327C>A (p.Phe1109Leu) c.2922C>A (p.Phe974Leu) c.2280C>A (p.Phe760Leu) n.3705C>A | |
10 | g.71712711C= | CA1918844376 | C10orf105,CDH23 | c.3267C= (p.Phe1089=) c.*3225G= (n.*3225G=) c.2698C= c.3282C= (p.Phe1094=) n.108C= c.2042C= c.3462C= (p.Phe1154=) c.3396C= (p.Phe1132=) c.3456C= (p.Phe1152=) c.3402C= (p.Phe1134=) c.3327C= (p.Phe1109=) c.2922C= (p.Phe974=) c.2280C= (p.Phe760=) n.3705C= | |
10 | g.71712711C>G | CA377144220 | C10orf105,CDH23 | c.3267C>G (p.Phe1089Leu) c.*3225G>C (n.*3225G>C) c.2698C>G c.3282C>G (p.Phe1094Leu) n.108C>G c.2042C>G c.3462C>G (p.Phe1154Leu) c.3396C>G (p.Phe1132Leu) c.3456C>G (p.Phe1152Leu) c.3402C>G (p.Phe1134Leu) c.3327C>G (p.Phe1109Leu) c.2922C>G (p.Phe974Leu) c.2280C>G (p.Phe760Leu) n.3705C>G | |
10 | g.71712711C>T | CA5544541 | C10orf105,CDH23 | c.3267C>T (p.Phe1089=) c.*3225G>A (n.*3225G>A) c.2698C>T c.3282C>T (p.Phe1094=) n.108C>T c.2042C>T c.3462C>T (p.Phe1154=) c.3396C>T (p.Phe1132=) c.3456C>T (p.Phe1152=) c.3402C>T (p.Phe1134=) c.3327C>T (p.Phe1109=) c.2922C>T (p.Phe974=) c.2280C>T (p.Phe760=) n.3705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712712G>A | CA5544543 | C10orf105,CDH23 | c.3268G>A (p.Val1090Ile) c.*3224C>T (n.*3224C>T) c.2699G>A c.3283G>A (p.Val1095Ile) n.109G>A c.2043G>A c.3463G>A (p.Val1155Ile) c.3397G>A (p.Val1133Ile) c.3457G>A (p.Val1153Ile) c.3403G>A (p.Val1135Ile) c.3328G>A (p.Val1110Ile) c.2923G>A (p.Val975Ile) c.2281G>A (p.Val761Ile) n.3706G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712712G>C | CA209465153 | C10orf105,CDH23 | c.3268G>C (p.Val1090Leu) c.*3224C>G (n.*3224C>G) c.2699G>C c.3283G>C (p.Val1095Leu) n.109G>C c.2043G>C c.3463G>C (p.Val1155Leu) c.3397G>C (p.Val1133Leu) c.3457G>C (p.Val1153Leu) c.3403G>C (p.Val1135Leu) c.3328G>C (p.Val1110Leu) c.2923G>C (p.Val975Leu) c.2281G>C (p.Val761Leu) n.3706G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712712G= | CA1918844382 | C10orf105,CDH23 | c.3268G= (p.Val1090=) c.*3224C= (n.*3224C=) c.2699G= c.3283G= (p.Val1095=) n.109G= c.2043G= c.3463G= (p.Val1155=) c.3397G= (p.Val1133=) c.3457G= (p.Val1153=) c.3403G= (p.Val1135=) c.3328G= (p.Val1110=) c.2923G= (p.Val975=) c.2281G= (p.Val761=) n.3706G= | |
10 | g.71712712G>T | CA5544542 | C10orf105,CDH23 | c.3268G>T (p.Val1090Phe) c.*3224C>A (n.*3224C>A) c.2699G>T c.3283G>T (p.Val1095Phe) n.109G>T c.2043G>T c.3463G>T (p.Val1155Phe) c.3397G>T (p.Val1133Phe) c.3457G>T (p.Val1153Phe) c.3403G>T (p.Val1135Phe) c.3328G>T (p.Val1110Phe) c.2923G>T (p.Val975Phe) c.2281G>T (p.Val761Phe) n.3706G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
10 | g.71712713T>A | CA377144230 | C10orf105,CDH23 | c.3269T>A (p.Val1090Asp) c.*3223A>T (n.*3223A>T) c.2700T>A c.3284T>A (p.Val1095Asp) n.110T>A c.2044T>A c.3464T>A (p.Val1155Asp) c.3398T>A (p.Val1133Asp) c.3458T>A (p.Val1153Asp) c.3404T>A (p.Val1135Asp) c.3329T>A (p.Val1110Asp) c.2924T>A (p.Val975Asp) c.2282T>A (p.Val761Asp) n.3707T>A | |
10 | g.71712713T>C | CA377144235 | C10orf105,CDH23 | c.3269T>C (p.Val1090Ala) c.*3223A>G (n.*3223A>G) c.2700T>C c.3284T>C (p.Val1095Ala) n.110T>C c.2044T>C c.3464T>C (p.Val1155Ala) c.3398T>C (p.Val1133Ala) c.3458T>C (p.Val1153Ala) c.3404T>C (p.Val1135Ala) c.3329T>C (p.Val1110Ala) c.2924T>C (p.Val975Ala) c.2282T>C (p.Val761Ala) n.3707T>C | |
10 | g.71712713T>G | CA377144236 | C10orf105,CDH23 | c.3269T>G (p.Val1090Gly) c.*3223A>C (n.*3223A>C) c.2700T>G c.3284T>G (p.Val1095Gly) n.110T>G c.2044T>G c.3464T>G (p.Val1155Gly) c.3398T>G (p.Val1133Gly) c.3458T>G (p.Val1153Gly) c.3404T>G (p.Val1135Gly) c.3329T>G (p.Val1110Gly) c.2924T>G (p.Val975Gly) c.2282T>G (p.Val761Gly) n.3707T>G | |
10 | g.71712714C>A | CA470062937 | C10orf105,CDH23 | c.3270C>A (p.Val1090=) c.*3222G>T (n.*3222G>T) c.2701C>A c.3285C>A (p.Val1095=) n.111C>A c.2045C>A c.3465C>A (p.Val1155=) c.3399C>A (p.Val1133=) c.3459C>A (p.Val1153=) c.3405C>A (p.Val1135=) c.3330C>A (p.Val1110=) c.2925C>A (p.Val975=) c.2283C>A (p.Val761=) n.3708C>A | |
10 | g.71712714C>G | CA470062938 | C10orf105,CDH23 | c.3270C>G (p.Val1090=) c.*3222G>C (n.*3222G>C) c.2701C>G c.3285C>G (p.Val1095=) n.111C>G c.2045C>G c.3465C>G (p.Val1155=) c.3399C>G (p.Val1133=) c.3459C>G (p.Val1153=) c.3405C>G (p.Val1135=) c.3330C>G (p.Val1110=) c.2925C>G (p.Val975=) c.2283C>G (p.Val761=) n.3708C>G | |
10 | g.71712714C>T | CA470062939 | C10orf105,CDH23 | c.3270C>T (p.Val1090=) c.*3222G>A (n.*3222G>A) c.2701C>T c.3285C>T (p.Val1095=) n.111C>T c.2045C>T c.3465C>T (p.Val1155=) c.3399C>T (p.Val1133=) c.3459C>T (p.Val1153=) c.3405C>T (p.Val1135=) c.3330C>T (p.Val1110=) c.2925C>T (p.Val975=) c.2283C>T (p.Val761=) n.3708C>T | gnomAD v4 |
10 | g.71712715A= | CA1918844385 | C10orf105,CDH23 | c.3271A= (p.Thr1091=) c.*3221T= (n.*3221T=) c.2702A= c.3286A= (p.Thr1096=) n.112A= c.2046A= c.3466A= (p.Thr1156=) c.3400A= (p.Thr1134=) c.3460A= (p.Thr1154=) c.3406A= (p.Thr1136=) c.3331A= (p.Thr1111=) c.2926A= (p.Thr976=) c.2284A= (p.Thr762=) n.3709A= | |
10 | g.71712715A>C | CA377144239 | C10orf105,CDH23 | c.3271A>C (p.Thr1091Pro) c.*3221T>G (n.*3221T>G) c.2702A>C c.3286A>C (p.Thr1096Pro) n.112A>C c.2046A>C c.3466A>C (p.Thr1156Pro) c.3400A>C (p.Thr1134Pro) c.3460A>C (p.Thr1154Pro) c.3406A>C (p.Thr1136Pro) c.3331A>C (p.Thr1111Pro) c.2926A>C (p.Thr976Pro) c.2284A>C (p.Thr762Pro) n.3709A>C | |
10 | g.71712715A>G | CA377144243 | C10orf105,CDH23 | c.3271A>G (p.Thr1091Ala) c.*3221T>C (n.*3221T>C) c.2702A>G c.3286A>G (p.Thr1096Ala) n.112A>G c.2046A>G c.3466A>G (p.Thr1156Ala) c.3400A>G (p.Thr1134Ala) c.3460A>G (p.Thr1154Ala) c.3406A>G (p.Thr1136Ala) c.3331A>G (p.Thr1111Ala) c.2926A>G (p.Thr976Ala) c.2284A>G (p.Thr762Ala) n.3709A>G | dbSNP gnomAD v4 |
10 | g.71712715A>T | CA377144246 | C10orf105,CDH23 | c.3271A>T (p.Thr1091Ser) c.*3221T>A (n.*3221T>A) c.2702A>T c.3286A>T (p.Thr1096Ser) n.112A>T c.2046A>T c.3466A>T (p.Thr1156Ser) c.3400A>T (p.Thr1134Ser) c.3460A>T (p.Thr1154Ser) c.3406A>T (p.Thr1136Ser) c.3331A>T (p.Thr1111Ser) c.2926A>T (p.Thr976Ser) c.2284A>T (p.Thr762Ser) n.3709A>T | |
10 | g.71712716C>A | CA377144248 | C10orf105,CDH23 | c.3272C>A (p.Thr1091Asn) c.*3220G>T (n.*3220G>T) c.2703C>A c.3287C>A (p.Thr1096Asn) n.113C>A c.2047C>A c.3467C>A (p.Thr1156Asn) c.3401C>A (p.Thr1134Asn) c.3461C>A (p.Thr1154Asn) c.3407C>A (p.Thr1136Asn) c.3332C>A (p.Thr1111Asn) c.2927C>A (p.Thr976Asn) c.2285C>A (p.Thr762Asn) n.3710C>A | |
10 | g.71712716C>G | CA377144250 | C10orf105,CDH23 | c.3272C>G (p.Thr1091Ser) c.*3220G>C (n.*3220G>C) c.2703C>G c.3287C>G (p.Thr1096Ser) n.113C>G c.2047C>G c.3467C>G (p.Thr1156Ser) c.3401C>G (p.Thr1134Ser) c.3461C>G (p.Thr1154Ser) c.3407C>G (p.Thr1136Ser) c.3332C>G (p.Thr1111Ser) c.2927C>G (p.Thr976Ser) c.2285C>G (p.Thr762Ser) n.3710C>G | |
10 | g.71712716C>T | CA377144251 | C10orf105,CDH23 | c.3272C>T (p.Thr1091Ile) c.*3220G>A (n.*3220G>A) c.2703C>T c.3287C>T (p.Thr1096Ile) n.113C>T c.2047C>T c.3467C>T (p.Thr1156Ile) c.3401C>T (p.Thr1134Ile) c.3461C>T (p.Thr1154Ile) c.3407C>T (p.Thr1136Ile) c.3332C>T (p.Thr1111Ile) c.2927C>T (p.Thr976Ile) c.2285C>T (p.Thr762Ile) n.3710C>T | |
10 | g.71712717T>A | CA470062948 | C10orf105,CDH23 | c.3273T>A (p.Thr1091=) c.*3219A>T (n.*3219A>T) c.2704T>A c.3288T>A (p.Thr1096=) n.114T>A c.2048T>A c.3468T>A (p.Thr1156=) c.3402T>A (p.Thr1134=) c.3462T>A (p.Thr1154=) c.3408T>A (p.Thr1136=) c.3333T>A (p.Thr1111=) c.2928T>A (p.Thr976=) c.2286T>A (p.Thr762=) n.3711T>A | |
10 | g.71712717T>C | CA470062949 | C10orf105,CDH23 | c.3273T>C (p.Thr1091=) c.*3219A>G (n.*3219A>G) c.2704T>C c.3288T>C (p.Thr1096=) n.114T>C c.2048T>C c.3468T>C (p.Thr1156=) c.3402T>C (p.Thr1134=) c.3462T>C (p.Thr1154=) c.3408T>C (p.Thr1136=) c.3333T>C (p.Thr1111=) c.2928T>C (p.Thr976=) c.2286T>C (p.Thr762=) n.3711T>C | |
10 | g.71712717T>G | CA470062950 | C10orf105,CDH23 | c.3273T>G (p.Thr1091=) c.*3219A>C (n.*3219A>C) c.2704T>G c.3288T>G (p.Thr1096=) n.114T>G c.2048T>G c.3468T>G (p.Thr1156=) c.3402T>G (p.Thr1134=) c.3462T>G (p.Thr1154=) c.3408T>G (p.Thr1136=) c.3333T>G (p.Thr1111=) c.2928T>G (p.Thr976=) c.2286T>G (p.Thr762=) n.3711T>G | dbSNP |
10 | g.71712718G>A | CA5544544 | C10orf105,CDH23 | c.3274G>A (p.Val1092Ile) c.*3218C>T (n.*3218C>T) c.2705G>A c.3289G>A (p.Val1097Ile) n.115G>A c.2049G>A c.3469G>A (p.Val1157Ile) c.3403G>A (p.Val1135Ile) c.3463G>A (p.Val1155Ile) c.3409G>A (p.Val1137Ile) c.3334G>A (p.Val1112Ile) c.2929G>A (p.Val977Ile) c.2287G>A (p.Val763Ile) n.3712G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712718G>C | CA377144261 | C10orf105,CDH23 | c.3274G>C (p.Val1092Leu) c.*3218C>G (n.*3218C>G) c.2705G>C c.3289G>C (p.Val1097Leu) n.115G>C c.2049G>C c.3469G>C (p.Val1157Leu) c.3403G>C (p.Val1135Leu) c.3463G>C (p.Val1155Leu) c.3409G>C (p.Val1137Leu) c.3334G>C (p.Val1112Leu) c.2929G>C (p.Val977Leu) c.2287G>C (p.Val763Leu) n.3712G>C | |
10 | g.71712718G= | CA1918844388 | C10orf105,CDH23 | c.3274G= (p.Val1092=) c.*3218C= (n.*3218C=) c.2705G= c.3289G= (p.Val1097=) n.115G= c.2049G= c.3469G= (p.Val1157=) c.3403G= (p.Val1135=) c.3463G= (p.Val1155=) c.3409G= (p.Val1137=) c.3334G= (p.Val1112=) c.2929G= (p.Val977=) c.2287G= (p.Val763=) n.3712G= | |
10 | g.71712718G>T | CA377144258 | C10orf105,CDH23 | c.3274G>T (p.Val1092Phe) c.*3218C>A (n.*3218C>A) c.2705G>T c.3289G>T (p.Val1097Phe) n.115G>T c.2049G>T c.3469G>T (p.Val1157Phe) c.3403G>T (p.Val1135Phe) c.3463G>T (p.Val1155Phe) c.3409G>T (p.Val1137Phe) c.3334G>T (p.Val1112Phe) c.2929G>T (p.Val977Phe) c.2287G>T (p.Val763Phe) n.3712G>T | |
10 | g.71712719T>A | CA377144263 | C10orf105,CDH23 | c.3275T>A (p.Val1092Asp) c.*3217A>T (n.*3217A>T) c.2706T>A c.3290T>A (p.Val1097Asp) n.116T>A c.2050T>A c.3470T>A (p.Val1157Asp) c.3404T>A (p.Val1135Asp) c.3464T>A (p.Val1155Asp) c.3410T>A (p.Val1137Asp) c.3335T>A (p.Val1112Asp) c.2930T>A (p.Val977Asp) c.2288T>A (p.Val763Asp) n.3713T>A | |
10 | g.71712719T>C | CA377144265 | C10orf105,CDH23 | c.3275T>C (p.Val1092Ala) c.*3217A>G (n.*3217A>G) c.2706T>C c.3290T>C (p.Val1097Ala) n.116T>C c.2050T>C c.3470T>C (p.Val1157Ala) c.3404T>C (p.Val1135Ala) c.3464T>C (p.Val1155Ala) c.3410T>C (p.Val1137Ala) c.3335T>C (p.Val1112Ala) c.2930T>C (p.Val977Ala) c.2288T>C (p.Val763Ala) n.3713T>C | |
10 | g.71712719T>G | CA377144267 | C10orf105,CDH23 | c.3275T>G (p.Val1092Gly) c.*3217A>C (n.*3217A>C) c.2706T>G c.3290T>G (p.Val1097Gly) n.116T>G c.2050T>G c.3470T>G (p.Val1157Gly) c.3404T>G (p.Val1135Gly) c.3464T>G (p.Val1155Gly) c.3410T>G (p.Val1137Gly) c.3335T>G (p.Val1112Gly) c.2930T>G (p.Val977Gly) c.2288T>G (p.Val763Gly) n.3713T>G | |
10 | g.71712720C>A | CA5544545 | C10orf105,CDH23 | c.3276C>A (p.Val1092=) c.*3216G>T (n.*3216G>T) c.2707C>A c.3291C>A (p.Val1097=) n.117C>A c.2051C>A c.3471C>A (p.Val1157=) c.3405C>A (p.Val1135=) c.3465C>A (p.Val1155=) c.3411C>A (p.Val1137=) c.3336C>A (p.Val1112=) c.2931C>A (p.Val977=) c.2289C>A (p.Val763=) n.3714C>A | dbSNP ExAC COSMIC |
10 | g.71712720C= | CA1918844392 | C10orf105,CDH23 | c.3276C= (p.Val1092=) c.*3216G= (n.*3216G=) c.2707C= c.3291C= (p.Val1097=) n.117C= c.2051C= c.3471C= (p.Val1157=) c.3405C= (p.Val1135=) c.3465C= (p.Val1155=) c.3411C= (p.Val1137=) c.3336C= (p.Val1112=) c.2931C= (p.Val977=) c.2289C= (p.Val763=) n.3714C= | |
10 | g.71712720C>G | CA470062955 | C10orf105,CDH23 | c.3276C>G (p.Val1092=) c.*3216G>C (n.*3216G>C) c.2707C>G c.3291C>G (p.Val1097=) n.117C>G c.2051C>G c.3471C>G (p.Val1157=) c.3405C>G (p.Val1135=) c.3465C>G (p.Val1155=) c.3411C>G (p.Val1137=) c.3336C>G (p.Val1112=) c.2931C>G (p.Val977=) c.2289C>G (p.Val763=) n.3714C>G | |
10 | g.71712720C>T | CA470062957 | C10orf105,CDH23 | c.3276C>T (p.Val1092=) c.*3216G>A (n.*3216G>A) c.2707C>T c.3291C>T (p.Val1097=) n.117C>T c.2051C>T c.3471C>T (p.Val1157=) c.3405C>T (p.Val1135=) c.3465C>T (p.Val1155=) c.3411C>T (p.Val1137=) c.3336C>T (p.Val1112=) c.2931C>T (p.Val977=) c.2289C>T (p.Val763=) n.3714C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
10 | g.71712721C>A | CA377144273 | C10orf105,CDH23 | c.3277C>A (p.Leu1093Met) c.*3215G>T (n.*3215G>T) c.2708C>A c.3292C>A (p.Leu1098Met) n.118C>A c.2052C>A c.3472C>A (p.Leu1158Met) c.3406C>A (p.Leu1136Met) c.3466C>A (p.Leu1156Met) c.3412C>A (p.Leu1138Met) c.3337C>A (p.Leu1113Met) c.2932C>A (p.Leu978Met) c.2290C>A (p.Leu764Met) n.3715C>A | |
10 | g.71712721C= | CA1918844395 | C10orf105,CDH23 | c.3277C= (p.Leu1093=) c.*3215G= (n.*3215G=) c.2708C= c.3292C= (p.Leu1098=) n.118C= c.2052C= c.3472C= (p.Leu1158=) c.3406C= (p.Leu1136=) c.3466C= (p.Leu1156=) c.3412C= (p.Leu1138=) c.3337C= (p.Leu1113=) c.2932C= (p.Leu978=) c.2290C= (p.Leu764=) n.3715C= | |
10 | g.71712721C>G | CA377144276 | C10orf105,CDH23 | c.3277C>G (p.Leu1093Val) c.*3215G>C (n.*3215G>C) c.2708C>G c.3292C>G (p.Leu1098Val) n.118C>G c.2052C>G c.3472C>G (p.Leu1158Val) c.3406C>G (p.Leu1136Val) c.3466C>G (p.Leu1156Val) c.3412C>G (p.Leu1138Val) c.3337C>G (p.Leu1113Val) c.2932C>G (p.Leu978Val) c.2290C>G (p.Leu764Val) n.3715C>G | |
10 | g.71712721C>T | CA209465161 | C10orf105,CDH23 | c.3277C>T (p.Leu1093=) c.*3215G>A (n.*3215G>A) c.2708C>T c.3292C>T (p.Leu1098=) n.118C>T c.2052C>T c.3472C>T (p.Leu1158=) c.3406C>T (p.Leu1136=) c.3466C>T (p.Leu1156=) c.3412C>T (p.Leu1138=) c.3337C>T (p.Leu1113=) c.2932C>T (p.Leu978=) c.2290C>T (p.Leu764=) n.3715C>T | dbSNP |
10 | g.71712722T>A | CA377144277 | C10orf105,CDH23 | c.3278T>A (p.Leu1093Gln) c.*3214A>T (n.*3214A>T) c.2709T>A c.3293T>A (p.Leu1098Gln) n.119T>A c.2053T>A c.3473T>A (p.Leu1158Gln) c.3407T>A (p.Leu1136Gln) c.3467T>A (p.Leu1156Gln) c.3413T>A (p.Leu1138Gln) c.3338T>A (p.Leu1113Gln) c.2933T>A (p.Leu978Gln) c.2291T>A (p.Leu764Gln) n.3716T>A | |
10 | g.71712722T>C | CA377144278 | C10orf105,CDH23 | c.3278T>C (p.Leu1093Pro) c.*3214A>G (n.*3214A>G) c.2709T>C c.3293T>C (p.Leu1098Pro) n.119T>C c.2053T>C c.3473T>C (p.Leu1158Pro) c.3407T>C (p.Leu1136Pro) c.3467T>C (p.Leu1156Pro) c.3413T>C (p.Leu1138Pro) c.3338T>C (p.Leu1113Pro) c.2933T>C (p.Leu978Pro) c.2291T>C (p.Leu764Pro) n.3716T>C | |
10 | g.71712722T>G | CA377144281 | C10orf105,CDH23 | c.3278T>G (p.Leu1093Arg) c.*3214A>C (n.*3214A>C) c.2709T>G c.3293T>G (p.Leu1098Arg) n.119T>G c.2053T>G c.3473T>G (p.Leu1158Arg) c.3407T>G (p.Leu1136Arg) c.3467T>G (p.Leu1156Arg) c.3413T>G (p.Leu1138Arg) c.3338T>G (p.Leu1113Arg) c.2933T>G (p.Leu978Arg) c.2291T>G (p.Leu764Arg) n.3716T>G | |
10 | g.71712723G>A | CA470062962 | C10orf105,CDH23 | c.3279G>A (p.Leu1093=) c.*3213C>T (n.*3213C>T) c.2710G>A c.3294G>A (p.Leu1098=) n.120G>A c.2054G>A c.3474G>A (p.Leu1158=) c.3408G>A (p.Leu1136=) c.3468G>A (p.Leu1156=) c.3414G>A (p.Leu1138=) c.3339G>A (p.Leu1113=) c.2934G>A (p.Leu978=) c.2292G>A (p.Leu764=) n.3717G>A | |
10 | g.71712723G>C | CA470062963 | C10orf105,CDH23 | c.3279G>C (p.Leu1093=) c.*3213C>G (n.*3213C>G) c.2710G>C c.3294G>C (p.Leu1098=) n.120G>C c.2054G>C c.3474G>C (p.Leu1158=) c.3408G>C (p.Leu1136=) c.3468G>C (p.Leu1156=) c.3414G>C (p.Leu1138=) c.3339G>C (p.Leu1113=) c.2934G>C (p.Leu978=) c.2292G>C (p.Leu764=) n.3717G>C | |
10 | g.71712723G>T | CA470062964 | C10orf105,CDH23 | c.3279G>T (p.Leu1093=) c.*3213C>A (n.*3213C>A) c.2710G>T c.3294G>T (p.Leu1098=) n.120G>T c.2054G>T c.3474G>T (p.Leu1158=) c.3408G>T (p.Leu1136=) c.3468G>T (p.Leu1156=) c.3414G>T (p.Leu1138=) c.3339G>T (p.Leu1113=) c.2934G>T (p.Leu978=) c.2292G>T (p.Leu764=) n.3717G>T | |
10 | g.71712724G>A | CA377144283 | C10orf105,CDH23 | c.3280G>A (p.Asp1094Asn) c.*3212C>T (n.*3212C>T) c.2711G>A c.3295G>A (p.Asp1099Asn) n.121G>A c.2055G>A c.3475G>A (p.Asp1159Asn) c.3409G>A (p.Asp1137Asn) c.3469G>A (p.Asp1157Asn) c.3415G>A (p.Asp1139Asn) c.3340G>A (p.Asp1114Asn) c.2935G>A (p.Asp979Asn) c.2293G>A (p.Asp765Asn) n.3718G>A | gnomAD v4 |
10 | g.71712724G>C | CA377144284 | C10orf105,CDH23 | c.3280G>C (p.Asp1094His) c.*3212C>G (n.*3212C>G) c.2711G>C c.3295G>C (p.Asp1099His) n.121G>C c.2055G>C c.3475G>C (p.Asp1159His) c.3409G>C (p.Asp1137His) c.3469G>C (p.Asp1157His) c.3415G>C (p.Asp1139His) c.3340G>C (p.Asp1114His) c.2935G>C (p.Asp979His) c.2293G>C (p.Asp765His) n.3718G>C | |
10 | g.71712724G>T | CA377144282 | C10orf105,CDH23 | c.3280G>T (p.Asp1094Tyr) c.*3212C>A (n.*3212C>A) c.2711G>T c.3295G>T (p.Asp1099Tyr) n.121G>T c.2055G>T c.3475G>T (p.Asp1159Tyr) c.3409G>T (p.Asp1137Tyr) c.3469G>T (p.Asp1157Tyr) c.3415G>T (p.Asp1139Tyr) c.3340G>T (p.Asp1114Tyr) c.2935G>T (p.Asp979Tyr) c.2293G>T (p.Asp765Tyr) n.3718G>T | |
10 | g.71712725A>C | CA377144287 | C10orf105,CDH23 | c.3281A>C (p.Asp1094Ala) c.*3211T>G (n.*3211T>G) c.2712A>C c.3296A>C (p.Asp1099Ala) n.122A>C c.2056A>C c.3476A>C (p.Asp1159Ala) c.3410A>C (p.Asp1137Ala) c.3470A>C (p.Asp1157Ala) c.3416A>C (p.Asp1139Ala) c.3341A>C (p.Asp1114Ala) c.2936A>C (p.Asp979Ala) c.2294A>C (p.Asp765Ala) n.3719A>C | |
10 | g.71712725A>G | CA377144285 | C10orf105,CDH23 | c.3281A>G (p.Asp1094Gly) c.*3211T>C (n.*3211T>C) c.2712A>G c.3296A>G (p.Asp1099Gly) n.122A>G c.2056A>G c.3476A>G (p.Asp1159Gly) c.3410A>G (p.Asp1137Gly) c.3470A>G (p.Asp1157Gly) c.3416A>G (p.Asp1139Gly) c.3341A>G (p.Asp1114Gly) c.2936A>G (p.Asp979Gly) c.2294A>G (p.Asp765Gly) n.3719A>G | |
10 | g.71712725A>T | CA377144286 | C10orf105,CDH23 | c.3281A>T (p.Asp1094Val) c.*3211T>A (n.*3211T>A) c.2712A>T c.3296A>T (p.Asp1099Val) n.122A>T c.2056A>T c.3476A>T (p.Asp1159Val) c.3410A>T (p.Asp1137Val) c.3470A>T (p.Asp1157Val) c.3416A>T (p.Asp1139Val) c.3341A>T (p.Asp1114Val) c.2936A>T (p.Asp979Val) c.2294A>T (p.Asp765Val) n.3719A>T | |
10 | g.71712726T>A | CA377144289 | C10orf105,CDH23 | c.3282T>A (p.Asp1094Glu) c.*3210A>T (n.*3210A>T) c.2713T>A c.3297T>A (p.Asp1099Glu) n.123T>A c.2057T>A c.3477T>A (p.Asp1159Glu) c.3411T>A (p.Asp1137Glu) c.3471T>A (p.Asp1157Glu) c.3417T>A (p.Asp1139Glu) c.3342T>A (p.Asp1114Glu) c.2937T>A (p.Asp979Glu) c.2295T>A (p.Asp765Glu) n.3720T>A | gnomAD v4 |
10 | g.71712726T>C | CA470062967 | C10orf105,CDH23 | c.3282T>C (p.Asp1094=) c.*3210A>G (n.*3210A>G) c.2713T>C c.3297T>C (p.Asp1099=) n.123T>C c.2057T>C c.3477T>C (p.Asp1159=) c.3411T>C (p.Asp1137=) c.3471T>C (p.Asp1157=) c.3417T>C (p.Asp1139=) c.3342T>C (p.Asp1114=) c.2937T>C (p.Asp979=) c.2295T>C (p.Asp765=) n.3720T>C | ClinVar dbSNP |
10 | g.71712726T>G | CA377144294 | C10orf105,CDH23 | c.3282T>G (p.Asp1094Glu) c.*3210A>C (n.*3210A>C) c.2713T>G c.3297T>G (p.Asp1099Glu) n.123T>G c.2057T>G c.3477T>G (p.Asp1159Glu) c.3411T>G (p.Asp1137Glu) c.3471T>G (p.Asp1157Glu) c.3417T>G (p.Asp1139Glu) c.3342T>G (p.Asp1114Glu) c.2937T>G (p.Asp979Glu) c.2295T>G (p.Asp765Glu) n.3720T>G | |
10 | g.71712727G>A | CA5544546 | C10orf105,CDH23 | c.3283G>A (p.Val1095Met) c.*3209C>T (n.*3209C>T) c.2714G>A c.3298G>A (p.Val1100Met) n.124G>A c.2058G>A c.3478G>A (p.Val1160Met) c.3412G>A (p.Val1138Met) c.3472G>A (p.Val1158Met) c.3418G>A (p.Val1140Met) c.3343G>A (p.Val1115Met) c.2938G>A (p.Val980Met) c.2296G>A (p.Val766Met) n.3721G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712727G>C | CA377144300 | C10orf105,CDH23 | c.3283G>C (p.Val1095Leu) c.*3209C>G (n.*3209C>G) c.2714G>C c.3298G>C (p.Val1100Leu) n.124G>C c.2058G>C c.3478G>C (p.Val1160Leu) c.3412G>C (p.Val1138Leu) c.3472G>C (p.Val1158Leu) c.3418G>C (p.Val1140Leu) c.3343G>C (p.Val1115Leu) c.2938G>C (p.Val980Leu) c.2296G>C (p.Val766Leu) n.3721G>C | dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712727G= | CA1918844397 | C10orf105,CDH23 | c.3283G= (p.Val1095=) c.*3209C= (n.*3209C=) c.2714G= c.3298G= (p.Val1100=) n.124G= c.2058G= c.3478G= (p.Val1160=) c.3412G= (p.Val1138=) c.3472G= (p.Val1158=) c.3418G= (p.Val1140=) c.3343G= (p.Val1115=) c.2938G= (p.Val980=) c.2296G= (p.Val766=) n.3721G= | |
10 | g.71712727G>T | CA377144303 | C10orf105,CDH23 | c.3283G>T (p.Val1095Leu) c.*3209C>A (n.*3209C>A) c.2714G>T c.3298G>T (p.Val1100Leu) n.124G>T c.2058G>T c.3478G>T (p.Val1160Leu) c.3412G>T (p.Val1138Leu) c.3472G>T (p.Val1158Leu) c.3418G>T (p.Val1140Leu) c.3343G>T (p.Val1115Leu) c.2938G>T (p.Val980Leu) c.2296G>T (p.Val766Leu) n.3721G>T | |
10 | g.71712728T>A | CA377144305 | C10orf105,CDH23 | c.3284T>A (p.Val1095Glu) c.*3208A>T (n.*3208A>T) c.2715T>A c.3299T>A (p.Val1100Glu) n.125T>A c.2059T>A c.3479T>A (p.Val1160Glu) c.3413T>A (p.Val1138Glu) c.3473T>A (p.Val1158Glu) c.3419T>A (p.Val1140Glu) c.3344T>A (p.Val1115Glu) c.2939T>A (p.Val980Glu) c.2297T>A (p.Val766Glu) n.3722T>A | |
10 | g.71712728T>C | CA377144306 | C10orf105,CDH23 | c.3284T>C (p.Val1095Ala) c.*3208A>G (n.*3208A>G) c.2715T>C c.3299T>C (p.Val1100Ala) n.125T>C c.2059T>C c.3479T>C (p.Val1160Ala) c.3413T>C (p.Val1138Ala) c.3473T>C (p.Val1158Ala) c.3419T>C (p.Val1140Ala) c.3344T>C (p.Val1115Ala) c.2939T>C (p.Val980Ala) c.2297T>C (p.Val766Ala) n.3722T>C | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712728T>G | CA377144309 | C10orf105,CDH23 | c.3284T>G (p.Val1095Gly) c.*3208A>C (n.*3208A>C) c.2715T>G c.3299T>G (p.Val1100Gly) n.125T>G c.2059T>G c.3479T>G (p.Val1160Gly) c.3413T>G (p.Val1138Gly) c.3473T>G (p.Val1158Gly) c.3419T>G (p.Val1140Gly) c.3344T>G (p.Val1115Gly) c.2939T>G (p.Val980Gly) c.2297T>G (p.Val766Gly) n.3722T>G | |
10 | g.71712728T= | CA1918844400 | C10orf105,CDH23 | c.3284T= (p.Val1095=) c.*3208A= (n.*3208A=) c.2715T= c.3299T= (p.Val1100=) n.125T= c.2059T= c.3479T= (p.Val1160=) c.3413T= (p.Val1138=) c.3473T= (p.Val1158=) c.3419T= (p.Val1140=) c.3344T= (p.Val1115=) c.2939T= (p.Val980=) c.2297T= (p.Val766=) n.3722T= | |
10 | g.71712729G>A | CA209465180 | C10orf105,CDH23 | c.3285G>A (p.Val1095=) c.*3207C>T (n.*3207C>T) c.2716G>A c.3300G>A (p.Val1100=) n.126G>A c.2060G>A c.3480G>A (p.Val1160=) c.3414G>A (p.Val1138=) c.3474G>A (p.Val1158=) c.3420G>A (p.Val1140=) c.3345G>A (p.Val1115=) c.2940G>A (p.Val980=) c.2298G>A (p.Val766=) n.3723G>A | dbSNP gnomAD v4 |
10 | g.71712729G>C | CA5544547 | C10orf105,CDH23 | c.3285G>C (p.Val1095=) c.*3207C>G (n.*3207C>G) c.2716G>C c.3300G>C (p.Val1100=) n.126G>C c.2060G>C c.3480G>C (p.Val1160=) c.3414G>C (p.Val1138=) c.3474G>C (p.Val1158=) c.3420G>C (p.Val1140=) c.3345G>C (p.Val1115=) c.2940G>C (p.Val980=) c.2298G>C (p.Val766=) n.3723G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712729G= | CA1918844404 | C10orf105,CDH23 | c.3285G= (p.Val1095=) c.*3207C= (n.*3207C=) c.2716G= c.3300G= (p.Val1100=) n.126G= c.2060G= c.3480G= (p.Val1160=) c.3414G= (p.Val1138=) c.3474G= (p.Val1158=) c.3420G= (p.Val1140=) c.3345G= (p.Val1115=) c.2940G= (p.Val980=) c.2298G= (p.Val766=) n.3723G= | |
10 | g.71712729G>T | CA470062974 | C10orf105,CDH23 | c.3285G>T (p.Val1095=) c.*3207C>A (n.*3207C>A) c.2716G>T c.3300G>T (p.Val1100=) n.126G>T c.2060G>T c.3480G>T (p.Val1160=) c.3414G>T (p.Val1138=) c.3474G>T (p.Val1158=) c.3420G>T (p.Val1140=) c.3345G>T (p.Val1115=) c.2940G>T (p.Val980=) c.2298G>T (p.Val766=) n.3723G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712730A= | CA1918844409 | C10orf105,CDH23 | c.3286A= (p.Asn1096=) c.*3206T= (n.*3206T=) c.2717A= c.3301A= (p.Asn1101=) n.127A= c.2061A= c.3481A= (p.Asn1161=) c.3415A= (p.Asn1139=) c.3475A= (p.Asn1159=) c.3421A= (p.Asn1141=) c.3346A= (p.Asn1116=) c.2941A= (p.Asn981=) c.2299A= (p.Asn767=) n.3724A= | |
10 | g.71712730A>C | CA377144326 | C10orf105,CDH23 | c.3286A>C (p.Asn1096His) c.*3206T>G (n.*3206T>G) c.2717A>C c.3301A>C (p.Asn1101His) n.127A>C c.2061A>C c.3481A>C (p.Asn1161His) c.3415A>C (p.Asn1139His) c.3475A>C (p.Asn1159His) c.3421A>C (p.Asn1141His) c.3346A>C (p.Asn1116His) c.2941A>C (p.Asn981His) c.2299A>C (p.Asn767His) n.3724A>C | |
10 | g.71712730A>G | CA209465184 | C10orf105,CDH23 | c.3286A>G (p.Asn1096Asp) c.*3206T>C (n.*3206T>C) c.2717A>G c.3301A>G (p.Asn1101Asp) n.127A>G c.2061A>G c.3481A>G (p.Asn1161Asp) c.3415A>G (p.Asn1139Asp) c.3475A>G (p.Asn1159Asp) c.3421A>G (p.Asn1141Asp) c.3346A>G (p.Asn1116Asp) c.2941A>G (p.Asn981Asp) c.2299A>G (p.Asn767Asp) n.3724A>G | dbSNP gnomAD v4 |
10 | g.71712730A>T | CA377144314 | C10orf105,CDH23 | c.3286A>T (p.Asn1096Tyr) c.*3206T>A (n.*3206T>A) c.2717A>T c.3301A>T (p.Asn1101Tyr) n.127A>T c.2061A>T c.3481A>T (p.Asn1161Tyr) c.3415A>T (p.Asn1139Tyr) c.3475A>T (p.Asn1159Tyr) c.3421A>T (p.Asn1141Tyr) c.3346A>T (p.Asn1116Tyr) c.2941A>T (p.Asn981Tyr) c.2299A>T (p.Asn767Tyr) n.3724A>T | |
10 | g.71712731A= | CA1918844413 | C10orf105,CDH23 | c.3287A= (p.Asn1096=) c.*3205T= (n.*3205T=) c.2718A= c.3302A= (p.Asn1101=) n.128A= c.2062A= c.3482A= (p.Asn1161=) c.3416A= (p.Asn1139=) c.3476A= (p.Asn1159=) c.3422A= (p.Asn1141=) c.3347A= (p.Asn1116=) c.2942A= (p.Asn981=) c.2300A= (p.Asn767=) n.3725A= | |
10 | g.71712731A>C | CA377144328 | C10orf105,CDH23 | c.3287A>C (p.Asn1096Thr) c.*3205T>G (n.*3205T>G) c.2718A>C c.3302A>C (p.Asn1101Thr) n.128A>C c.2062A>C c.3482A>C (p.Asn1161Thr) c.3416A>C (p.Asn1139Thr) c.3476A>C (p.Asn1159Thr) c.3422A>C (p.Asn1141Thr) c.3347A>C (p.Asn1116Thr) c.2942A>C (p.Asn981Thr) c.2300A>C (p.Asn767Thr) n.3725A>C | |
10 | g.71712731A>G | CA5544548 | C10orf105,CDH23 | c.3287A>G (p.Asn1096Ser) c.*3205T>C (n.*3205T>C) c.2718A>G c.3302A>G (p.Asn1101Ser) n.128A>G c.2062A>G c.3482A>G (p.Asn1161Ser) c.3416A>G (p.Asn1139Ser) c.3476A>G (p.Asn1159Ser) c.3422A>G (p.Asn1141Ser) c.3347A>G (p.Asn1116Ser) c.2942A>G (p.Asn981Ser) c.2300A>G (p.Asn767Ser) n.3725A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.71712731A>T | CA377144353 | C10orf105,CDH23 | c.3287A>T (p.Asn1096Ile) c.*3205T>A (n.*3205T>A) c.2718A>T c.3302A>T (p.Asn1101Ile) n.128A>T c.2062A>T c.3482A>T (p.Asn1161Ile) c.3416A>T (p.Asn1139Ile) c.3476A>T (p.Asn1159Ile) c.3422A>T (p.Asn1141Ile) c.3347A>T (p.Asn1116Ile) c.2942A>T (p.Asn981Ile) c.2300A>T (p.Asn767Ile) n.3725A>T | |
10 | g.71712732T>A | CA377144356 | C10orf105,CDH23 | c.3288T>A (p.Asn1096Lys) c.*3204A>T (n.*3204A>T) c.2719T>A c.3303T>A (p.Asn1101Lys) n.129T>A c.2063T>A c.3483T>A (p.Asn1161Lys) c.3417T>A (p.Asn1139Lys) c.3477T>A (p.Asn1159Lys) c.3423T>A (p.Asn1141Lys) c.3348T>A (p.Asn1116Lys) c.2943T>A (p.Asn981Lys) c.2301T>A (p.Asn767Lys) n.3726T>A | dbSNP gnomAD v2 gnomAD v4 |
10 | g.71712732T>C | CA470062982 | C10orf105,CDH23 | c.3288T>C (p.Asn1096=) c.*3204A>G (n.*3204A>G) c.2719T>C c.3303T>C (p.Asn1101=) n.129T>C c.2063T>C c.3483T>C (p.Asn1161=) c.3417T>C (p.Asn1139=) c.3477T>C (p.Asn1159=) c.3423T>C (p.Asn1141=) c.3348T>C (p.Asn1116=) c.2943T>C (p.Asn981=) c.2301T>C (p.Asn767=) n.3726T>C | |
10 | g.71712732T>G | CA377144357 | C10orf105,CDH23 | c.3288T>G (p.Asn1096Lys) c.*3204A>C (n.*3204A>C) c.2719T>G c.3303T>G (p.Asn1101Lys) n.129T>G c.2063T>G c.3483T>G (p.Asn1161Lys) c.3417T>G (p.Asn1139Lys) c.3477T>G (p.Asn1159Lys) c.3423T>G (p.Asn1141Lys) c.3348T>G (p.Asn1116Lys) c.2943T>G (p.Asn981Lys) c.2301T>G (p.Asn767Lys) n.3726T>G | |
10 | g.71712732T= | CA1918844415 | C10orf105,CDH23 | c.3288T= (p.Asn1096=) c.*3204A= (n.*3204A=) c.2719T= c.3303T= (p.Asn1101=) n.129T= c.2063T= c.3483T= (p.Asn1161=) c.3417T= (p.Asn1139=) c.3477T= (p.Asn1159=) c.3423T= (p.Asn1141=) c.3348T= (p.Asn1116=) c.2943T= (p.Asn981=) c.2301T= (p.Asn767=) n.3726T= | |
10 | g.71712733G>A | CA377144361 | C10orf105,CDH23 | c.3289G>A (p.Asp1097Asn) c.*3203C>T (n.*3203C>T) c.2720G>A c.3304G>A (p.Asp1102Asn) n.130G>A c.2064G>A c.3484G>A (p.Asp1162Asn) c.3418G>A (p.Asp1140Asn) c.3478G>A (p.Asp1160Asn) c.3424G>A (p.Asp1142Asn) c.3349G>A (p.Asp1117Asn) c.2944G>A (p.Asp982Asn) c.2302G>A (p.Asp768Asn) n.3727G>A | |
10 | g.71712733G>C | CA377144365 | C10orf105,CDH23 | c.3289G>C (p.Asp1097His) c.*3203C>G (n.*3203C>G) c.2720G>C c.3304G>C (p.Asp1102His) n.130G>C c.2064G>C c.3484G>C (p.Asp1162His) c.3418G>C (p.Asp1140His) c.3478G>C (p.Asp1160His) c.3424G>C (p.Asp1142His) c.3349G>C (p.Asp1117His) c.2944G>C (p.Asp982His) c.2302G>C (p.Asp768His) n.3727G>C | |
10 | g.71712733G>T | CA377144366 | C10orf105,CDH23 | c.3289G>T (p.Asp1097Tyr) c.*3203C>A (n.*3203C>A) c.2720G>T c.3304G>T (p.Asp1102Tyr) n.130G>T c.2064G>T c.3484G>T (p.Asp1162Tyr) c.3418G>T (p.Asp1140Tyr) c.3478G>T (p.Asp1160Tyr) c.3424G>T (p.Asp1142Tyr) c.3349G>T (p.Asp1117Tyr) c.2944G>T (p.Asp982Tyr) c.2302G>T (p.Asp768Tyr) n.3727G>T | |
10 | g.71712734A>C | CA377144369 | C10orf105,CDH23 | c.3290A>C (p.Asp1097Ala) c.*3202T>G (n.*3202T>G) c.2721A>C c.3305A>C (p.Asp1102Ala) n.131A>C c.2065A>C c.3485A>C (p.Asp1162Ala) c.3419A>C (p.Asp1140Ala) c.3479A>C (p.Asp1160Ala) c.3425A>C (p.Asp1142Ala) c.3350A>C (p.Asp1117Ala) c.2945A>C (p.Asp982Ala) c.2303A>C (p.Asp768Ala) n.3728A>C | |
10 | g.71712734A>G | CA377144381 | C10orf105,CDH23 | c.3290A>G (p.Asp1097Gly) c.*3202T>C (n.*3202T>C) c.2721A>G c.3305A>G (p.Asp1102Gly) n.131A>G c.2065A>G c.3485A>G (p.Asp1162Gly) c.3419A>G (p.Asp1140Gly) c.3479A>G (p.Asp1160Gly) c.3425A>G (p.Asp1142Gly) c.3350A>G (p.Asp1117Gly) c.2945A>G (p.Asp982Gly) c.2303A>G (p.Asp768Gly) n.3728A>G | |
10 | g.71712734A>T | CA377144382 | C10orf105,CDH23 | c.3290A>T (p.Asp1097Val) c.*3202T>A (n.*3202T>A) c.2721A>T c.3305A>T (p.Asp1102Val) n.131A>T c.2065A>T c.3485A>T (p.Asp1162Val) c.3419A>T (p.Asp1140Val) c.3479A>T (p.Asp1160Val) c.3425A>T (p.Asp1142Val) c.3350A>T (p.Asp1117Val) c.2945A>T (p.Asp982Val) c.2303A>T (p.Asp768Val) n.3728A>T | |
10 | g.71712735C>A | CA377144383 | C10orf105,CDH23 | c.3291C>A (p.Asp1097Glu) c.*3201G>T (n.*3201G>T) c.2722C>A c.3306C>A (p.Asp1102Glu) n.132C>A c.2066C>A c.3486C>A (p.Asp1162Glu) c.3420C>A (p.Asp1140Glu) c.3480C>A (p.Asp1160Glu) c.3426C>A (p.Asp1142Glu) c.3351C>A (p.Asp1117Glu) c.2946C>A (p.Asp982Glu) c.2304C>A (p.Asp768Glu) n.3729C>A | |
10 | g.71712735C= | CA1918844418 | C10orf105,CDH23 | c.3291C= (p.Asp1097=) c.*3201G= (n.*3201G=) c.2722C= c.3306C= (p.Asp1102=) n.132C= c.2066C= c.3486C= (p.Asp1162=) c.3420C= (p.Asp1140=) c.3480C= (p.Asp1160=) c.3426C= (p.Asp1142=) c.3351C= (p.Asp1117=) c.2946C= (p.Asp982=) c.2304C= (p.Asp768=) n.3729C= | |
10 | g.71712735C>G | CA377144384 | C10orf105,CDH23 | c.3291C>G (p.Asp1097Glu) c.*3201G>C (n.*3201G>C) c.2722C>G c.3306C>G (p.Asp1102Glu) n.132C>G c.2066C>G c.3486C>G (p.Asp1162Glu) c.3420C>G (p.Asp1140Glu) c.3480C>G (p.Asp1160Glu) c.3426C>G (p.Asp1142Glu) c.3351C>G (p.Asp1117Glu) c.2946C>G (p.Asp982Glu) c.2304C>G (p.Asp768Glu) n.3729C>G | |
10 | g.71712735C>T | CA470062985 | C10orf105,CDH23 | c.3291C>T (p.Asp1097=) c.*3201G>A (n.*3201G>A) c.2722C>T c.3306C>T (p.Asp1102=) n.132C>T c.2066C>T c.3486C>T (p.Asp1162=) c.3420C>T (p.Asp1140=) c.3480C>T (p.Asp1160=) c.3426C>T (p.Asp1142=) c.3351C>T (p.Asp1117=) c.2946C>T (p.Asp982=) c.2304C>T (p.Asp768=) n.3729C>T | dbSNP gnomAD v4 |
10 | g.71712736_71712739dup | CA2695199521 | C10orf105,CDH23 | c.3292_3295dup (p.Arg1099GlnfsTer11) c.*3198_*3201dup (n.*3198_*3201dup) c.2723_2726dup c.3307_3310dup (p.Arg1104GlnfsTer11) n.133_136dup c.2067_2070dup c.3487_3490dup (p.Arg1164GlnfsTer11) c.3421_3424dup (p.Arg1142GlnfsTer11) c.3481_3484dup (p.Arg1162GlnfsTer11) c.3427_3430dup (p.Arg1144GlnfsTer11) c.3352_3355dup (p.Arg1119GlnfsTer11) c.2947_2950dup (p.Arg984GlnfsTer11) c.2305_2308dup (p.Arg770GlnfsTer11) n.3730_3733dup | ClinVar |
10 | g.71712736A>C | CA377144388 | C10orf105,CDH23 | c.3292A>C (p.Asn1098His) c.*3200T>G (n.*3200T>G) c.2723A>C c.3307A>C (p.Asn1103His) n.133A>C c.2067A>C c.3487A>C (p.Asn1163His) c.3421A>C (p.Asn1141His) c.3481A>C (p.Asn1161His) c.3427A>C (p.Asn1143His) c.3352A>C (p.Asn1118His) c.2947A>C (p.Asn983His) c.2305A>C (p.Asn769His) n.3730A>C | |
10 | g.71712736A>G | CA377144394 | C10orf105,CDH23 | c.3292A>G (p.Asn1098Asp) c.*3200T>C (n.*3200T>C) c.2723A>G c.3307A>G (p.Asn1103Asp) n.133A>G c.2067A>G c.3487A>G (p.Asn1163Asp) c.3421A>G (p.Asn1141Asp) c.3481A>G (p.Asn1161Asp) c.3427A>G (p.Asn1143Asp) c.3352A>G (p.Asn1118Asp) c.2947A>G (p.Asn983Asp) c.2305A>G (p.Asn769Asp) n.3730A>G | |
10 | g.71712736A>T | CA377144385 | C10orf105,CDH23 | c.3292A>T (p.Asn1098Tyr) c.*3200T>A (n.*3200T>A) c.2723A>T c.3307A>T (p.Asn1103Tyr) n.133A>T c.2067A>T c.3487A>T (p.Asn1163Tyr) c.3421A>T (p.Asn1141Tyr) c.3481A>T (p.Asn1161Tyr) c.3427A>T (p.Asn1143Tyr) c.3352A>T (p.Asn1118Tyr) c.2947A>T (p.Asn983Tyr) c.2305A>T (p.Asn769Tyr) n.3730A>T | |
10 | g.71712737A= | CA1918844421 | C10orf105,CDH23 | c.3293A= (p.Asn1098=) c.*3199T= (n.*3199T=) c.2724A= c.3308A= (p.Asn1103=) n.134A= c.2068A= c.3488A= (p.Asn1163=) c.3422A= (p.Asn1141=) c.3482A= (p.Asn1161=) c.3428A= (p.Asn1143=) c.3353A= (p.Asn1118=) c.2948A= (p.Asn983=) c.2306A= (p.Asn769=) n.3731A= | |
10 | g.71712737A>C | CA377144396 | C10orf105,CDH23 | c.3293A>C (p.Asn1098Thr) c.*3199T>G (n.*3199T>G) c.2724A>C c.3308A>C (p.Asn1103Thr) n.134A>C c.2068A>C c.3488A>C (p.Asn1163Thr) c.3422A>C (p.Asn1141Thr) c.3482A>C (p.Asn1161Thr) c.3428A>C (p.Asn1143Thr) c.3353A>C (p.Asn1118Thr) c.2948A>C (p.Asn983Thr) c.2306A>C (p.Asn769Thr) n.3731A>C | |
10 | g.71712737A>G | CA137364 | C10orf105,CDH23 | c.3293A>G (p.Asn1098Ser) c.*3199T>C (n.*3199T>C) c.2724A>G c.3308A>G (p.Asn1103Ser) n.134A>G c.2068A>G c.3488A>G (p.Asn1163Ser) c.3422A>G (p.Asn1141Ser) c.3482A>G (p.Asn1161Ser) c.3428A>G (p.Asn1143Ser) c.3353A>G (p.Asn1118Ser) c.2948A>G (p.Asn983Ser) c.2306A>G (p.Asn769Ser) n.3731A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712737A>T | CA377144401 | C10orf105,CDH23 | c.3293A>T (p.Asn1098Ile) c.*3199T>A (n.*3199T>A) c.2724A>T c.3308A>T (p.Asn1103Ile) n.134A>T c.2068A>T c.3488A>T (p.Asn1163Ile) c.3422A>T (p.Asn1141Ile) c.3482A>T (p.Asn1161Ile) c.3428A>T (p.Asn1143Ile) c.3353A>T (p.Asn1118Ile) c.2948A>T (p.Asn983Ile) c.2306A>T (p.Asn769Ile) n.3731A>T | |
10 | g.71712738C>A | CA377144404 | C10orf105,CDH23 | c.3294C>A (p.Asn1098Lys) c.*3198G>T (n.*3198G>T) c.2725C>A c.3309C>A (p.Asn1103Lys) n.135C>A c.2069C>A c.3489C>A (p.Asn1163Lys) c.3423C>A (p.Asn1141Lys) c.3483C>A (p.Asn1161Lys) c.3429C>A (p.Asn1143Lys) c.3354C>A (p.Asn1118Lys) c.2949C>A (p.Asn983Lys) c.2307C>A (p.Asn769Lys) n.3732C>A | |
10 | g.71712738C>G | CA377144406 | C10orf105,CDH23 | c.3294C>G (p.Asn1098Lys) c.*3198G>C (n.*3198G>C) c.2725C>G c.3309C>G (p.Asn1103Lys) n.135C>G c.2069C>G c.3489C>G (p.Asn1163Lys) c.3423C>G (p.Asn1141Lys) c.3483C>G (p.Asn1161Lys) c.3429C>G (p.Asn1143Lys) c.3354C>G (p.Asn1118Lys) c.2949C>G (p.Asn983Lys) c.2307C>G (p.Asn769Lys) n.3732C>G | |
10 | g.71712738C>T | CA470062988 | C10orf105,CDH23 | c.3294C>T (p.Asn1098=) c.*3198G>A (n.*3198G>A) c.2725C>T c.3309C>T (p.Asn1103=) n.135C>T c.2069C>T c.3489C>T (p.Asn1163=) c.3423C>T (p.Asn1141=) c.3483C>T (p.Asn1161=) c.3429C>T (p.Asn1143=) c.3354C>T (p.Asn1118=) c.2949C>T (p.Asn983=) c.2307C>T (p.Asn769=) n.3732C>T | |
10 | g.71712739C>A | CA470062990 | C10orf105,CDH23 | c.3295C>A (p.Arg1099=) c.*3197G>T (n.*3197G>T) c.2726C>A c.3310C>A (p.Arg1104=) n.136C>A c.2070C>A c.3490C>A (p.Arg1164=) c.3424C>A (p.Arg1142=) c.3484C>A (p.Arg1162=) c.3430C>A (p.Arg1144=) c.3355C>A (p.Arg1119=) c.2950C>A (p.Arg984=) c.2308C>A (p.Arg770=) n.3733C>A | |
10 | g.71712739C= | CA1918844429 | C10orf105,CDH23 | c.3295C= (p.Arg1099=) c.*3197G= (n.*3197G=) c.2726C= c.3310C= (p.Arg1104=) n.136C= c.2070C= c.3490C= (p.Arg1164=) c.3424C= (p.Arg1142=) c.3484C= (p.Arg1162=) c.3430C= (p.Arg1144=) c.3355C= (p.Arg1119=) c.2950C= (p.Arg984=) c.2308C= (p.Arg770=) n.3733C= | |
10 | g.71712739C>G | CA377144418 | C10orf105,CDH23 | c.3295C>G (p.Arg1099Gly) c.*3197G>C (n.*3197G>C) c.2726C>G c.3310C>G (p.Arg1104Gly) n.136C>G c.2070C>G c.3490C>G (p.Arg1164Gly) c.3424C>G (p.Arg1142Gly) c.3484C>G (p.Arg1162Gly) c.3430C>G (p.Arg1144Gly) c.3355C>G (p.Arg1119Gly) c.2950C>G (p.Arg984Gly) c.2308C>G (p.Arg770Gly) n.3733C>G | |
10 | g.71712739C>T | CA5544549 | C10orf105,CDH23 | c.3295C>T (p.Arg1099Trp) c.*3197G>A (n.*3197G>A) c.2726C>T c.3310C>T (p.Arg1104Trp) n.136C>T c.2070C>T c.3490C>T (p.Arg1164Trp) c.3424C>T (p.Arg1142Trp) c.3484C>T (p.Arg1162Trp) c.3430C>T (p.Arg1144Trp) c.3355C>T (p.Arg1119Trp) c.2950C>T (p.Arg984Trp) c.2308C>T (p.Arg770Trp) n.3733C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
10 | g.71712740G>A | CA377144426 | C10orf105,CDH23 | c.3296G>A (p.Arg1099Gln) c.*3196C>T (n.*3196C>T) c.2727G>A c.3311G>A (p.Arg1104Gln) n.137G>A c.2071G>A c.3491G>A (p.Arg1164Gln) c.3425G>A (p.Arg1142Gln) c.3485G>A (p.Arg1162Gln) c.3431G>A (p.Arg1144Gln) c.3356G>A (p.Arg1119Gln) c.2951G>A (p.Arg984Gln) c.2309G>A (p.Arg770Gln) n.3734G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.71712740G>C | CA377144425 | C10orf105,CDH23 | c.3296G>C (p.Arg1099Pro) c.*3196C>G (n.*3196C>G) c.2727G>C c.3311G>C (p.Arg1104Pro) n.137G>C c.2071G>C c.3491G>C (p.Arg1164Pro) c.3425G>C (p.Arg1142Pro) c.3485G>C (p.Arg1162Pro) c.3431G>C (p.Arg1144Pro) c.3356G>C (p.Arg1119Pro) c.2951G>C (p.Arg984Pro) c.2309G>C (p.Arg770Pro) n.3734G>C | |
10 | g.71712740G= | CA1918844436 | C10orf105,CDH23 | c.3296G= (p.Arg1099=) c.*3196C= (n.*3196C=) c.2727G= c.3311G= (p.Arg1104=) n.137G= c.2071G= c.3491G= (p.Arg1164=) c.3425G= (p.Arg1142=) c.3485G= (p.Arg1162=) c.3431G= (p.Arg1144=) c.3356G= (p.Arg1119=) c.2951G= (p.Arg984=) c.2309G= (p.Arg770=) n.3734G= | |
10 | g.71712740G>T | CA377144423 | C10orf105,CDH23 | c.3296G>T (p.Arg1099Leu) c.*3196C>A (n.*3196C>A) c.2727G>T c.3311G>T (p.Arg1104Leu) n.137G>T c.2071G>T c.3491G>T (p.Arg1164Leu) c.3425G>T (p.Arg1142Leu) c.3485G>T (p.Arg1162Leu) c.3431G>T (p.Arg1144Leu) c.3356G>T (p.Arg1119Leu) c.2951G>T (p.Arg984Leu) c.2309G>T (p.Arg770Leu) n.3734G>T | |
10 | g.71712741dup | CA209465200 | C10orf105,CDH23 | c.3297dup (p.Pro1100AlafsTer9) c.*3196dup (n.*3196dup) c.2728dup c.3312dup (p.Pro1105AlafsTer9) n.138dup c.2072dup c.3492dup (p.Pro1165AlafsTer9) c.3426dup (p.Pro1143AlafsTer9) c.3486dup (p.Pro1163AlafsTer9) c.3432dup (p.Pro1145AlafsTer9) c.3357dup (p.Pro1120AlafsTer9) c.2952dup (p.Pro985AlafsTer9) c.2310dup (p.Pro771AlafsTer9) n.3735dup | dbSNP |
10 | g.71712741G>A | CA470062992 | C10orf105,CDH23 | c.3297G>A (p.Arg1099=) c.*3195C>T (n.*3195C>T) c.2728G>A c.3312G>A (p.Arg1104=) n.138G>A c.2072G>A c.3492G>A (p.Arg1164=) c.3426G>A (p.Arg1142=) c.3486G>A (p.Arg1162=) c.3432G>A (p.Arg1144=) c.3357G>A (p.Arg1119=) c.2952G>A (p.Arg984=) c.2310G>A (p.Arg770=) n.3735G>A | |
10 | g.71712741G>C | CA470062993 | C10orf105,CDH23 | c.3297G>C (p.Arg1099=) c.*3195C>G (n.*3195C>G) c.2728G>C c.3312G>C (p.Arg1104=) n.138G>C c.2072G>C c.3492G>C (p.Arg1164=) c.3426G>C (p.Arg1142=) c.3486G>C (p.Arg1162=) c.3432G>C (p.Arg1144=) c.3357G>C (p.Arg1119=) c.2952G>C (p.Arg984=) c.2310G>C (p.Arg770=) n.3735G>C | |
10 | g.71712741G>T | CA470062994 | C10orf105,CDH23 | c.3297G>T (p.Arg1099=) c.*3195C>A (n.*3195C>A) c.2728G>T c.3312G>T (p.Arg1104=) n.138G>T c.2072G>T c.3492G>T (p.Arg1164=) c.3426G>T (p.Arg1142=) c.3486G>T (p.Arg1162=) c.3432G>T (p.Arg1144=) c.3357G>T (p.Arg1119=) c.2952G>T (p.Arg984=) c.2310G>T (p.Arg770=) n.3735G>T | |
10 | g.71712742C>A | CA209465217 | C10orf105,CDH23 | c.3298C>A (p.Pro1100Thr) c.*3194G>T (n.*3194G>T) c.2729C>A c.3313C>A (p.Pro1105Thr) n.139C>A c.2073C>A c.3493C>A (p.Pro1165Thr) c.3427C>A (p.Pro1143Thr) c.3487C>A (p.Pro1163Thr) c.3433C>A (p.Pro1145Thr) c.3358C>A (p.Pro1120Thr) c.2953C>A (p.Pro985Thr) c.2311C>A (p.Pro771Thr) n.3736C>A | dbSNP |
10 | g.71712742C= | CA1918844438 | C10orf105,CDH23 | c.3298C= (p.Pro1100=) c.*3194G= (n.*3194G=) c.2729C= c.3313C= (p.Pro1105=) n.139C= c.2073C= c.3493C= (p.Pro1165=) c.3427C= (p.Pro1143=) c.3487C= (p.Pro1163=) c.3433C= (p.Pro1145=) c.3358C= (p.Pro1120=) c.2953C= (p.Pro985=) c.2311C= (p.Pro771=) n.3736C= | |
10 | g.71712742C>G | CA377144434 | C10orf105,CDH23 | c.3298C>G (p.Pro1100Ala) c.*3194G>C (n.*3194G>C) c.2729C>G c.3313C>G (p.Pro1105Ala) n.139C>G c.2073C>G c.3493C>G (p.Pro1165Ala) c.3427C>G (p.Pro1143Ala) c.3487C>G (p.Pro1163Ala) c.3433C>G (p.Pro1145Ala) c.3358C>G (p.Pro1120Ala) c.2953C>G (p.Pro985Ala) c.2311C>G (p.Pro771Ala) n.3736C>G | |
10 | g.71712742C>T | CA377144435 | C10orf105,CDH23 | c.3298C>T (p.Pro1100Ser) c.*3194G>A (n.*3194G>A) c.2729C>T c.3313C>T (p.Pro1105Ser) n.139C>T c.2073C>T c.3493C>T (p.Pro1165Ser) c.3427C>T (p.Pro1143Ser) c.3487C>T (p.Pro1163Ser) c.3433C>T (p.Pro1145Ser) c.3358C>T (p.Pro1120Ser) c.2953C>T (p.Pro985Ser) c.2311C>T (p.Pro771Ser) n.3736C>T | |
10 | g.71712743C>A | CA377144437 | C10orf105,CDH23 | c.3299C>A (p.Pro1100His) c.*3193G>T (n.*3193G>T) c.2730C>A c.3314C>A (p.Pro1105His) n.140C>A c.2074C>A c.3494C>A (p.Pro1165His) c.3428C>A (p.Pro1143His) c.3488C>A (p.Pro1163His) c.3434C>A (p.Pro1145His) c.3359C>A (p.Pro1120His) c.2954C>A (p.Pro985His) c.2312C>A (p.Pro771His) n.3737C>A | |
10 | g.71712743C= | CA1918844442 | C10orf105,CDH23 | c.3299C= (p.Pro1100=) c.*3193G= (n.*3193G=) c.2730C= c.3314C= (p.Pro1105=) n.140C= c.2074C= c.3494C= (p.Pro1165=) c.3428C= (p.Pro1143=) c.3488C= (p.Pro1163=) c.3434C= (p.Pro1145=) c.3359C= (p.Pro1120=) c.2954C= (p.Pro985=) c.2312C= (p.Pro771=) n.3737C= | |
10 | g.71712743C>G | CA377144440 | C10orf105,CDH23 | c.3299C>G (p.Pro1100Arg) c.*3193G>C (n.*3193G>C) c.2730C>G c.3314C>G (p.Pro1105Arg) n.140C>G c.2074C>G c.3494C>G (p.Pro1165Arg) c.3428C>G (p.Pro1143Arg) c.3488C>G (p.Pro1163Arg) c.3434C>G (p.Pro1145Arg) c.3359C>G (p.Pro1120Arg) c.2954C>G (p.Pro985Arg) c.2312C>G (p.Pro771Arg) n.3737C>G | |
10 | g.71712743C>T | CA10576813 | C10orf105,CDH23 | c.3299C>T (p.Pro1100Leu) c.*3193G>A (n.*3193G>A) c.2730C>T c.3314C>T (p.Pro1105Leu) n.140C>T c.2074C>T c.3494C>T (p.Pro1165Leu) c.3428C>T (p.Pro1143Leu) c.3488C>T (p.Pro1163Leu) c.3434C>T (p.Pro1145Leu) c.3359C>T (p.Pro1120Leu) c.2954C>T (p.Pro985Leu) c.2312C>T (p.Pro771Leu) n.3737C>T | ClinVar dbSNP |
10 | g.71712744C>A | CA470062996 | C10orf105,CDH23 | c.3300C>A (p.Pro1100=) c.*3192G>T (n.*3192G>T) c.2731C>A c.3315C>A (p.Pro1105=) n.141C>A c.2075C>A c.3495C>A (p.Pro1165=) c.3429C>A (p.Pro1143=) c.3489C>A (p.Pro1163=) c.3435C>A (p.Pro1145=) c.3360C>A (p.Pro1120=) c.2955C>A (p.Pro985=) c.2313C>A (p.Pro771=) n.3738C>A | |
10 | g.71712744C>G | CA470062997 | C10orf105,CDH23 | c.3300C>G (p.Pro1100=) c.*3192G>C (n.*3192G>C) c.2731C>G c.3315C>G (p.Pro1105=) n.141C>G c.2075C>G c.3495C>G (p.Pro1165=) c.3429C>G (p.Pro1143=) c.3489C>G (p.Pro1163=) c.3435C>G (p.Pro1145=) c.3360C>G (p.Pro1120=) c.2955C>G (p.Pro985=) c.2313C>G (p.Pro771=) n.3738C>G | |
10 | g.71712744C>T | CA470062998 | C10orf105,CDH23 | c.3300C>T (p.Pro1100=) c.*3192G>A (n.*3192G>A) c.2731C>T c.3315C>T (p.Pro1105=) n.141C>T c.2075C>T c.3495C>T (p.Pro1165=) c.3429C>T (p.Pro1143=) c.3489C>T (p.Pro1163=) c.3435C>T (p.Pro1145=) c.3360C>T (p.Pro1120=) c.2955C>T (p.Pro985=) c.2313C>T (p.Pro771=) n.3738C>T | |
10 | g.71712745A= | CA1918844448 | C10orf105,CDH23 | c.3301A= (p.Ile1101=) c.*3191T= (n.*3191T=) c.2732A= c.3316A= (p.Ile1106=) n.142A= c.2076A= c.3496A= (p.Ile1166=) c.3430A= (p.Ile1144=) c.3490A= (p.Ile1164=) c.3436A= (p.Ile1146=) c.3361A= (p.Ile1121=) c.2956A= (p.Ile986=) c.2314A= (p.Ile772=) n.3739A= | |
10 | g.71712745A>C | CA377144441 | C10orf105,CDH23 | c.3301A>C (p.Ile1101Leu) c.*3191T>G (n.*3191T>G) c.2732A>C c.3316A>C (p.Ile1106Leu) n.142A>C c.2076A>C c.3496A>C (p.Ile1166Leu) c.3430A>C (p.Ile1144Leu) c.3490A>C (p.Ile1164Leu) c.3436A>C (p.Ile1146Leu) c.3361A>C (p.Ile1121Leu) c.2956A>C (p.Ile986Leu) c.2314A>C (p.Ile772Leu) n.3739A>C | |
10 | g.71712745A>G | CA233645 | C10orf105,CDH23 | c.3301A>G (p.Ile1101Val) c.*3191T>C (n.*3191T>C) c.2732A>G c.3316A>G (p.Ile1106Val) n.142A>G c.2076A>G c.3496A>G (p.Ile1166Val) c.3430A>G (p.Ile1144Val) c.3490A>G (p.Ile1164Val) c.3436A>G (p.Ile1146Val) c.3361A>G (p.Ile1121Val) c.2956A>G (p.Ile986Val) c.2314A>G (p.Ile772Val) n.3739A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.71712745A>T | CA377144442 | C10orf105,CDH23 | c.3301A>T (p.Ile1101Phe) c.*3191T>A (n.*3191T>A) c.2732A>T c.3316A>T (p.Ile1106Phe) n.142A>T c.2076A>T c.3496A>T (p.Ile1166Phe) c.3430A>T (p.Ile1144Phe) c.3490A>T (p.Ile1164Phe) c.3436A>T (p.Ile1146Phe) c.3361A>T (p.Ile1121Phe) c.2956A>T (p.Ile986Phe) c.2314A>T (p.Ile772Phe) n.3739A>T |