Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.124400774_124400778del | CA661081756 | OAT | c.1159+70_1159+74del (n.1159+70_1159+74del) n.669+70_669+74del c.745+70_745+74del (n.745+70_745+74del) c.838+70_838+74del (n.838+70_838+74del) c.559+70_559+74del (n.559+70_559+74del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400779A>T | CA2611307389 | OAT | c.1159+61T>A (n.1159+61T>A) n.669+61T>A c.745+61T>A (n.745+61T>A) c.838+61T>A (n.838+61T>A) c.559+61T>A (n.559+61T>A) | gnomAD v4 |
10 | g.124400780_124400783dup | CA2789814244 | OAT | c.1159+58_1159+61dup (n.1159+58_1159+61dup) n.669+58_669+61dup c.745+58_745+61dup (n.745+58_745+61dup) c.838+58_838+61dup (n.838+58_838+61dup) c.559+58_559+61dup (n.559+58_559+61dup) | |
10 | g.124400780C= | CA1942336964 | OAT | c.1159+60G= (n.1159+60G=) n.669+60G= c.745+60G= (n.745+60G=) c.838+60G= (n.838+60G=) c.559+60G= (n.559+60G=) | |
10 | g.124400780C>T | CA1942336965 | OAT | c.1159+60G>A (n.1159+60G>A) n.669+60G>A c.745+60G>A (n.745+60G>A) c.838+60G>A (n.838+60G>A) c.559+60G>A (n.559+60G>A) | dbSNP |
10 | g.124400781C>A | CA1942336967 | OAT | c.1159+59G>T (n.1159+59G>T) n.669+59G>T c.745+59G>T (n.745+59G>T) c.838+59G>T (n.838+59G>T) c.559+59G>T (n.559+59G>T) | dbSNP gnomAD v4 |
10 | g.124400781C= | CA1942336966 | OAT | c.1159+59G= (n.1159+59G=) n.669+59G= c.745+59G= (n.745+59G=) c.838+59G= (n.838+59G=) c.559+59G= (n.559+59G=) | |
10 | g.124400781C>T | CA2789814245 | OAT | c.1159+59G>A (n.1159+59G>A) n.669+59G>A c.745+59G>A (n.745+59G>A) c.838+59G>A (n.838+59G>A) c.559+59G>A (n.559+59G>A) | |
10 | g.124400782A= | CA1942336968 | OAT | c.1159+58T= (n.1159+58T=) n.669+58T= c.745+58T= (n.745+58T=) c.838+58T= (n.838+58T=) c.559+58T= (n.559+58T=) | |
10 | g.124400782A>G | CA1942336969 | OAT | c.1159+58T>C (n.1159+58T>C) n.669+58T>C c.745+58T>C (n.745+58T>C) c.838+58T>C (n.838+58T>C) c.559+58T>C (n.559+58T>C) | dbSNP gnomAD v4 |
10 | g.124400782A>T | CA2789814246 | OAT | c.1159+58T>A (n.1159+58T>A) n.669+58T>A c.745+58T>A (n.745+58T>A) c.838+58T>A (n.838+58T>A) c.559+58T>A (n.559+58T>A) | |
10 | g.124400784G>A | CA2611307390 | OAT | c.1159+56C>T (n.1159+56C>T) n.669+56C>T c.745+56C>T (n.745+56C>T) c.838+56C>T (n.838+56C>T) c.559+56C>T (n.559+56C>T) | gnomAD v4 |
10 | g.124400784G>T | CA2611307391 | OAT | c.1159+56C>A (n.1159+56C>A) n.669+56C>A c.745+56C>A (n.745+56C>A) c.838+56C>A (n.838+56C>A) c.559+56C>A (n.559+56C>A) | gnomAD v4 |
10 | g.124400785T>A | CA215244915 | OAT | c.1159+55A>T (n.1159+55A>T) n.669+55A>T c.745+55A>T (n.745+55A>T) c.838+55A>T (n.838+55A>T) c.559+55A>T (n.559+55A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400785T>C | CA215244932 | OAT | c.1159+55A>G (n.1159+55A>G) n.669+55A>G c.745+55A>G (n.745+55A>G) c.838+55A>G (n.838+55A>G) c.559+55A>G (n.559+55A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400785T>G | CA2611307392 | OAT | c.1159+55A>C (n.1159+55A>C) n.669+55A>C c.745+55A>C (n.745+55A>C) c.838+55A>C (n.838+55A>C) c.559+55A>C (n.559+55A>C) | gnomAD v4 |
10 | g.124400785T= | CA1942336970 | OAT | c.1159+55A= (n.1159+55A=) n.669+55A= c.745+55A= (n.745+55A=) c.838+55A= (n.838+55A=) c.559+55A= (n.559+55A=) | |
10 | g.124400786G>C | CA2611307393 | OAT | c.1159+54C>G (n.1159+54C>G) n.669+54C>G c.745+54C>G (n.745+54C>G) c.838+54C>G (n.838+54C>G) c.559+54C>G (n.559+54C>G) | gnomAD v4 |
10 | g.124400786G= | CA1942336971 | OAT | c.1159+54C= (n.1159+54C=) n.669+54C= c.745+54C= (n.745+54C=) c.838+54C= (n.838+54C=) c.559+54C= (n.559+54C=) | |
10 | g.124400786G>T | CA1942336972 | OAT | c.1159+54C>A (n.1159+54C>A) n.669+54C>A c.745+54C>A (n.745+54C>A) c.838+54C>A (n.838+54C>A) c.559+54C>A (n.559+54C>A) | dbSNP gnomAD v4 |
10 | g.124400787T>A | CA2611307394 | OAT | c.1159+53A>T (n.1159+53A>T) n.669+53A>T c.745+53A>T (n.745+53A>T) c.838+53A>T (n.838+53A>T) c.559+53A>T (n.559+53A>T) | gnomAD v4 |
10 | g.124400788A>G | CA2611307395 | OAT | c.1159+52T>C (n.1159+52T>C) n.669+52T>C c.745+52T>C (n.745+52T>C) c.838+52T>C (n.838+52T>C) c.559+52T>C (n.559+52T>C) | gnomAD v4 |
10 | g.124400789T>C | CA2611307396 | OAT | c.1159+51A>G (n.1159+51A>G) n.669+51A>G c.745+51A>G (n.745+51A>G) c.838+51A>G (n.838+51A>G) c.559+51A>G (n.559+51A>G) | gnomAD v4 |
10 | g.124400791T>C | CA2611307397 | OAT | c.1159+49A>G (n.1159+49A>G) n.669+49A>G c.745+49A>G (n.745+49A>G) c.838+49A>G (n.838+49A>G) c.559+49A>G (n.559+49A>G) | gnomAD v4 |
10 | g.124400793A>G | CA2611307398 | OAT | c.1159+47T>C (n.1159+47T>C) n.669+47T>C c.745+47T>C (n.745+47T>C) c.838+47T>C (n.838+47T>C) c.559+47T>C (n.559+47T>C) | gnomAD v4 |
10 | g.124400793A>T | CA2574699238 | OAT | c.1159+47T>A (n.1159+47T>A) n.669+47T>A c.745+47T>A (n.745+47T>A) c.838+47T>A (n.838+47T>A) c.559+47T>A (n.559+47T>A) | gnomAD v4 |
10 | g.124400794G>A | CA5733319 | OAT | c.1159+46C>T (n.1159+46C>T) n.669+46C>T c.745+46C>T (n.745+46C>T) c.838+46C>T (n.838+46C>T) c.559+46C>T (n.559+46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400794G>C | CA5733320 | OAT | c.1159+46C>G (n.1159+46C>G) n.669+46C>G c.745+46C>G (n.745+46C>G) c.838+46C>G (n.838+46C>G) c.559+46C>G (n.559+46C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400794G= | CA1942336973 | OAT | c.1159+46C= (n.1159+46C=) n.669+46C= c.745+46C= (n.745+46C=) c.838+46C= (n.838+46C=) c.559+46C= (n.559+46C=) | |
10 | g.124400794G>T | CA2611307399 | OAT | c.1159+46C>A (n.1159+46C>A) n.669+46C>A c.745+46C>A (n.745+46C>A) c.838+46C>A (n.838+46C>A) c.559+46C>A (n.559+46C>A) | gnomAD v4 |
10 | g.124400797C>G | CA2789814247 | OAT | c.1159+43G>C (n.1159+43G>C) n.669+43G>C c.745+43G>C (n.745+43G>C) c.838+43G>C (n.838+43G>C) c.559+43G>C (n.559+43G>C) | |
10 | g.124400798T>C | CA5733321 | OAT | c.1159+42A>G (n.1159+42A>G) n.669+42A>G c.745+42A>G (n.745+42A>G) c.838+42A>G (n.838+42A>G) c.559+42A>G (n.559+42A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400798T= | CA1942336974 | OAT | c.1159+42A= (n.1159+42A=) n.669+42A= c.745+42A= (n.745+42A=) c.838+42A= (n.838+42A=) c.559+42A= (n.559+42A=) | |
10 | g.124400799del | CA2574699239 | OAT | c.1159+42del (n.1159+42del) n.669+42del c.745+42del (n.745+42del) c.838+42del (n.838+42del) c.559+42del (n.559+42del) | |
10 | g.124400799T>C | CA2611307400 | OAT | c.1159+41A>G (n.1159+41A>G) n.669+41A>G c.745+41A>G (n.745+41A>G) c.838+41A>G (n.838+41A>G) c.559+41A>G (n.559+41A>G) | gnomAD v4 |
10 | g.124400800C>T | CA2789814248 | OAT | c.1159+40G>A (n.1159+40G>A) n.669+40G>A c.745+40G>A (n.745+40G>A) c.838+40G>A (n.838+40G>A) c.559+40G>A (n.559+40G>A) | |
10 | g.124400804A>T | CA2574699242 | OAT | c.1159+36T>A (n.1159+36T>A) n.669+36T>A c.745+36T>A (n.745+36T>A) c.838+36T>A (n.838+36T>A) c.559+36T>A (n.559+36T>A) | |
10 | g.124400809del | CA2574699241 | OAT | c.1159+36del (n.1159+36del) n.669+36del c.745+36del (n.745+36del) c.838+36del (n.838+36del) c.559+36del (n.559+36del) | gnomAD v4 |
10 | g.124400810T>C | CA2611307401 | OAT | c.1159+30A>G (n.1159+30A>G) n.669+30A>G c.745+30A>G (n.745+30A>G) c.838+30A>G (n.838+30A>G) c.559+30A>G (n.559+30A>G) | gnomAD v4 |
10 | g.124400812A>G | CA2611307402 | OAT | c.1159+28T>C (n.1159+28T>C) n.669+28T>C c.745+28T>C (n.745+28T>C) c.838+28T>C (n.838+28T>C) c.559+28T>C (n.559+28T>C) | dbSNP gnomAD v4 |
10 | g.124400813T>C | CA2611307403 | OAT | c.1159+27A>G (n.1159+27A>G) n.669+27A>G c.745+27A>G (n.745+27A>G) c.838+27A>G (n.838+27A>G) c.559+27A>G (n.559+27A>G) | gnomAD v4 |
10 | g.124400814C>A | CA933467229 | OAT | c.1159+26G>T (n.1159+26G>T) n.669+26G>T c.745+26G>T (n.745+26G>T) c.838+26G>T (n.838+26G>T) c.559+26G>T (n.559+26G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.124400814C= | CA1942336975 | OAT | c.1159+26G= (n.1159+26G=) n.669+26G= c.745+26G= (n.745+26G=) c.838+26G= (n.838+26G=) c.559+26G= (n.559+26G=) | |
10 | g.124400814C>G | CA5733322 | OAT | c.1159+26G>C (n.1159+26G>C) n.669+26G>C c.745+26G>C (n.745+26G>C) c.838+26G>C (n.838+26G>C) c.559+26G>C (n.559+26G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400814C>T | CA2574699243 | OAT | c.1159+26G>A (n.1159+26G>A) n.669+26G>A c.745+26G>A (n.745+26G>A) c.838+26G>A (n.838+26G>A) c.559+26G>A (n.559+26G>A) | |
10 | g.124400815T>C | CA596407225 | OAT | c.1159+25A>G (n.1159+25A>G) n.669+25A>G c.745+25A>G (n.745+25A>G) c.838+25A>G (n.838+25A>G) c.559+25A>G (n.559+25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400815T= | CA1942336976 | OAT | c.1159+25A= (n.1159+25A=) n.669+25A= c.745+25A= (n.745+25A=) c.838+25A= (n.838+25A=) c.559+25A= (n.559+25A=) | |
10 | g.124400816del | CA2611307404 | OAT | c.1159+25del (n.1159+25del) n.669+25del c.745+25del (n.745+25del) c.838+25del (n.838+25del) c.559+25del (n.559+25del) | gnomAD v4 |
10 | g.124400816T>C | CA2611307405 | OAT | c.1159+24A>G (n.1159+24A>G) n.669+24A>G c.745+24A>G (n.745+24A>G) c.838+24A>G (n.838+24A>G) c.559+24A>G (n.559+24A>G) | gnomAD v4 |
10 | g.124400817G>A | CA2574699245 | OAT | c.1159+23C>T (n.1159+23C>T) n.669+23C>T c.745+23C>T (n.745+23C>T) c.838+23C>T (n.838+23C>T) c.559+23C>T (n.559+23C>T) | |
10 | g.124400817G>T | CA2611307406 | OAT | c.1159+23C>A (n.1159+23C>A) n.669+23C>A c.745+23C>A (n.745+23C>A) c.838+23C>A (n.838+23C>A) c.559+23C>A (n.559+23C>A) | gnomAD v4 |
10 | g.124400819G>A | CA1942336978 | OAT | c.1159+21C>T (n.1159+21C>T) n.669+21C>T c.745+21C>T (n.745+21C>T) c.838+21C>T (n.838+21C>T) c.559+21C>T (n.559+21C>T) | dbSNP gnomAD v4 |
10 | g.124400819G= | CA1942336977 | OAT | c.1159+21C= (n.1159+21C=) n.669+21C= c.745+21C= (n.745+21C=) c.838+21C= (n.838+21C=) c.559+21C= (n.559+21C=) | |
10 | g.124400819G>T | CA596407226 | OAT | c.1159+21C>A (n.1159+21C>A) n.669+21C>A c.745+21C>A (n.745+21C>A) c.838+21C>A (n.838+21C>A) c.559+21C>A (n.559+21C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400823A>C | CA2611307407 | OAT | c.1159+17T>G (n.1159+17T>G) n.669+17T>G c.745+17T>G (n.745+17T>G) c.838+17T>G (n.838+17T>G) c.559+17T>G (n.559+17T>G) | gnomAD v4 |
10 | g.124400824T>G | CA2739276041 | OAT | c.1159+16A>C (n.1159+16A>C) n.669+16A>C c.745+16A>C (n.745+16A>C) c.838+16A>C (n.838+16A>C) c.559+16A>C (n.559+16A>C) | ClinVar |
10 | g.124400825G>A | CA596407227 | OAT | c.1159+15C>T (n.1159+15C>T) n.669+15C>T c.745+15C>T (n.745+15C>T) c.838+15C>T (n.838+15C>T) c.559+15C>T (n.559+15C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400825G>C | CA5733323 | OAT | c.1159+15C>G (n.1159+15C>G) n.669+15C>G c.745+15C>G (n.745+15C>G) c.838+15C>G (n.838+15C>G) c.559+15C>G (n.559+15C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400825G= | CA1942336979 | OAT | c.1159+15C= (n.1159+15C=) n.669+15C= c.745+15C= (n.745+15C=) c.838+15C= (n.838+15C=) c.559+15C= (n.559+15C=) | |
10 | g.124400825G>T | CA2611307408 | OAT | c.1159+15C>A (n.1159+15C>A) n.669+15C>A c.745+15C>A (n.745+15C>A) c.838+15C>A (n.838+15C>A) c.559+15C>A (n.559+15C>A) | gnomAD v4 |
10 | g.124400826T>C | CA596407228 | OAT | c.1159+14A>G (n.1159+14A>G) n.669+14A>G c.745+14A>G (n.745+14A>G) c.838+14A>G (n.838+14A>G) c.559+14A>G (n.559+14A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400826T= | CA1942336980 | OAT | c.1159+14A= (n.1159+14A=) n.669+14A= c.745+14A= (n.745+14A=) c.838+14A= (n.838+14A=) c.559+14A= (n.559+14A=) | |
10 | g.124400827_124400835del | CA2611307409 | OAT | c.1159+5_1159+13del (n.1159+5_1159+13del) n.669+5_669+13del c.745+5_745+13del (n.745+5_745+13del) c.838+5_838+13del (n.838+5_838+13del) c.559+5_559+13del (n.559+5_559+13del) | gnomAD v4 |
10 | g.124400829T>C | CA2611307410 | OAT | c.1159+11A>G (n.1159+11A>G) n.669+11A>G c.745+11A>G (n.745+11A>G) c.838+11A>G (n.838+11A>G) c.559+11A>G (n.559+11A>G) | gnomAD v4 |
10 | g.124400830A= | CA1942336981 | OAT | c.1159+10T= (n.1159+10T=) n.669+10T= c.745+10T= (n.745+10T=) c.838+10T= (n.838+10T=) c.559+10T= (n.559+10T=) | |
10 | g.124400830A>C | CA1942336982 | OAT | c.1159+10T>G (n.1159+10T>G) n.669+10T>G c.745+10T>G (n.745+10T>G) c.838+10T>G (n.838+10T>G) c.559+10T>G (n.559+10T>G) | ClinVar dbSNP |
10 | g.124400831T>C | CA596407229 | OAT | c.1159+9A>G (n.1159+9A>G) n.669+9A>G c.745+9A>G (n.745+9A>G) c.838+9A>G (n.838+9A>G) c.559+9A>G (n.559+9A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400831T= | CA1942336983 | OAT | c.1159+9A= (n.1159+9A=) n.669+9A= c.745+9A= (n.745+9A=) c.838+9A= (n.838+9A=) c.559+9A= (n.559+9A=) | |
10 | g.124400832C>G | CA2789814249 | OAT | c.1159+8G>C (n.1159+8G>C) n.669+8G>C c.745+8G>C (n.745+8G>C) c.838+8G>C (n.838+8G>C) c.559+8G>C (n.559+8G>C) | |
10 | g.124400833T>C | CA2611307411 | OAT | c.1159+7A>G (n.1159+7A>G) n.669+7A>G c.745+7A>G (n.745+7A>G) c.838+7A>G (n.838+7A>G) c.559+7A>G (n.559+7A>G) | gnomAD v4 |
10 | g.124400834C>A | CA2611307413 | OAT | c.1159+6G>T (n.1159+6G>T) n.669+6G>T c.745+6G>T (n.745+6G>T) c.838+6G>T (n.838+6G>T) c.559+6G>T (n.559+6G>T) | gnomAD v4 |
10 | g.124400834C>T | CA2611307414 | OAT | c.1159+6G>A (n.1159+6G>A) n.669+6G>A c.745+6G>A (n.745+6G>A) c.838+6G>A (n.838+6G>A) c.559+6G>A (n.559+6G>A) | gnomAD v4 |
10 | g.124400835del | CA2611307412 | OAT | c.1159+6del (n.1159+6del) n.669+6del c.745+6del (n.745+6del) c.838+6del (n.838+6del) c.559+6del (n.559+6del) | gnomAD v4 |
10 | g.124400836A= | CA1942336984 | OAT | c.1159+4T= (n.1159+4T=) n.669+4T= c.745+4T= (n.745+4T=) c.838+4T= (n.838+4T=) c.559+4T= (n.559+4T=) | |
10 | g.124400837T>A | CA596407230 | OAT | c.1159+3A>T (n.1159+3A>T) n.669+3A>T c.745+3A>T (n.745+3A>T) c.838+3A>T (n.838+3A>T) c.559+3A>T (n.559+3A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400837T>C | CA471762593 | OAT | c.1159+3A>G (n.1159+3A>G) n.669+3A>G c.745+3A>G (n.745+3A>G) c.838+3A>G (n.838+3A>G) c.559+3A>G (n.559+3A>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400837T= | CA1942336986 | OAT | c.1159+3A= (n.1159+3A=) n.669+3A= c.745+3A= (n.745+3A=) c.838+3A= (n.838+3A=) c.559+3A= (n.559+3A=) | |
10 | g.124400837_124400838insTT | CA1942336985 | OAT | c.1159+3_1159+4insAA (n.1159+3_1159+4insAA) n.669+3_669+4insAA c.745+3_745+4insAA (n.745+3_745+4insAA) c.838+3_838+4insAA (n.838+3_838+4insAA) c.559+3_559+4insAA (n.559+3_559+4insAA) | dbSNP gnomAD v4 |
10 | g.124400838A= | CA1942336987 | OAT | c.1159+2T= (n.1159+2T=) n.669+2T= c.745+2T= (n.745+2T=) c.838+2T= (n.838+2T=) c.559+2T= (n.559+2T=) | |
10 | g.124400838A>C | CA378633491 | OAT | c.1159+2T>G (n.1159+2T>G) n.669+2T>G c.745+2T>G (n.745+2T>G) c.838+2T>G (n.838+2T>G) c.559+2T>G (n.559+2T>G) | |
10 | g.124400838A>G | CA378633490 | OAT | c.1159+2T>C (n.1159+2T>C) n.669+2T>C c.745+2T>C (n.745+2T>C) c.838+2T>C (n.838+2T>C) c.559+2T>C (n.559+2T>C) | |
10 | g.124400838A>T | CA378633492 | OAT | c.1159+2T>A (n.1159+2T>A) n.669+2T>A c.745+2T>A (n.745+2T>A) c.838+2T>A (n.838+2T>A) c.559+2T>A (n.559+2T>A) | |
10 | g.124400838_124400839insTG | CA1942336988 | OAT | c.1159+1_1159+2insCA (n.1159+1_1159+2insCA) n.669+1_669+2insCA c.745+1_745+2insCA (n.745+1_745+2insCA) c.838+1_838+2insCA (n.838+1_838+2insCA) c.559+1_559+2insCA (n.559+1_559+2insCA) | dbSNP gnomAD v4 |
10 | g.124400839C>A | CA378633493 | OAT | c.1159+1G>T (n.1159+1G>T) n.669+1G>T c.745+1G>T (n.745+1G>T) c.838+1G>T (n.838+1G>T) c.559+1G>T (n.559+1G>T) | gnomAD v4 COSMIC |
10 | g.124400839C>G | CA378633494 | OAT | c.1159+1G>C (n.1159+1G>C) n.669+1G>C c.745+1G>C (n.745+1G>C) c.838+1G>C (n.838+1G>C) c.559+1G>C (n.559+1G>C) | |
10 | g.124400839C>T | CA378633495 | OAT | c.1159+1G>A (n.1159+1G>A) n.669+1G>A c.745+1G>A (n.745+1G>A) c.838+1G>A (n.838+1G>A) c.559+1G>A (n.559+1G>A) | ClinVar dbSNP gnomAD v4 |
10 | g.124400840C>A | CA378633496 | OAT | c.1159G>T (p.Asp387Tyr) n.669G>T c.745G>T (p.Asp249Tyr) c.838G>T (p.Asp280Tyr) c.559G>T (p.Asp187Tyr) | |
10 | g.124400840C>G | CA378633497 | OAT | c.1159G>C (p.Asp387His) n.669G>C c.745G>C (p.Asp249His) c.838G>C (p.Asp280His) c.559G>C (p.Asp187His) | ClinVar |
10 | g.124400840C>T | CA378633498 | OAT | c.1159G>A (p.Asp387Asn) n.669G>A c.745G>A (p.Asp249Asn) c.838G>A (p.Asp280Asn) c.559G>A (p.Asp187Asn) | |
10 | g.124400841T>A | CA378633500 | OAT | c.1158A>T (p.Lys386Asn) n.668A>T c.744A>T (p.Lys248Asn) c.837A>T (p.Lys279Asn) c.558A>T (p.Lys186Asn) | |
10 | g.124400841T>C | CA471762594 | OAT | c.1158A>G (p.Lys386=) n.668A>G c.744A>G (p.Lys248=) c.837A>G (p.Lys279=) c.558A>G (p.Lys186=) | gnomAD v4 |
10 | g.124400841T>G | CA378633499 | OAT | c.1158A>C (p.Lys386Asn) n.668A>C c.744A>C (p.Lys248Asn) c.837A>C (p.Lys279Asn) c.558A>C (p.Lys186Asn) | |
10 | g.124400842T>A | CA378633501 | OAT | c.1157A>T (p.Lys386Ile) n.667A>T c.743A>T (p.Lys248Ile) c.836A>T (p.Lys279Ile) c.557A>T (p.Lys186Ile) | |
10 | g.124400842T>C | CA378633502 | OAT | c.1157A>G (p.Lys386Arg) n.667A>G c.743A>G (p.Lys248Arg) c.836A>G (p.Lys279Arg) c.557A>G (p.Lys186Arg) | dbSNP |
10 | g.124400842T>G | CA378633503 | OAT | c.1157A>C (p.Lys386Thr) n.667A>C c.743A>C (p.Lys248Thr) c.836A>C (p.Lys279Thr) c.557A>C (p.Lys186Thr) | |
10 | g.124400842T= | CA1942336989 | OAT | c.1157A= (p.Lys386=) n.667A= c.743A= (p.Lys248=) c.836A= (p.Lys279=) c.557A= (p.Lys186=) | |
10 | g.124400843T>A | CA378633504 | OAT | c.1156A>T (p.Lys386Ter) n.666A>T c.742A>T (p.Lys248Ter) c.835A>T (p.Lys279Ter) c.556A>T (p.Lys186Ter) | |
10 | g.124400843T>C | CA378633505 | OAT | c.1156A>G (p.Lys386Glu) n.666A>G c.742A>G (p.Lys248Glu) c.835A>G (p.Lys279Glu) c.556A>G (p.Lys186Glu) | |
10 | g.124400843T>G | CA378633506 | OAT | c.1156A>C (p.Lys386Gln) n.666A>C c.742A>C (p.Lys248Gln) c.835A>C (p.Lys279Gln) c.556A>C (p.Lys186Gln) | gnomAD v4 |
10 | g.124400844G>A | CA471762595 | OAT | c.1155C>T (p.Thr385=) n.665C>T c.741C>T (p.Thr247=) c.834C>T (p.Thr278=) c.555C>T (p.Thr185=) | ClinVar |
10 | g.124400844G>C | CA471762596 | OAT | c.1155C>G (p.Thr385=) n.665C>G c.741C>G (p.Thr247=) c.834C>G (p.Thr278=) c.555C>G (p.Thr185=) | |
10 | g.124400844G>T | CA471762597 | OAT | c.1155C>A (p.Thr385=) n.665C>A c.741C>A (p.Thr247=) c.834C>A (p.Thr278=) c.555C>A (p.Thr185=) | ClinVar dbSNP gnomAD v4 |
10 | g.124400845del | CA2611307415 | OAT | c.1155del (p.Asp387IlefsTer?) n.665del c.741del (p.Asp249IlefsTer?) c.834del (p.Asp280IlefsTer?) c.555del (p.Asp187IlefsTer?) | gnomAD v4 |
10 | g.124400845G>A | CA378633507 | OAT | c.1154C>T (p.Thr385Ile) n.664C>T c.740C>T (p.Thr247Ile) c.833C>T (p.Thr278Ile) c.554C>T (p.Thr185Ile) | |
10 | g.124400845G>C | CA378633509 | OAT | c.1154C>G (p.Thr385Ser) n.664C>G c.740C>G (p.Thr247Ser) c.833C>G (p.Thr278Ser) c.554C>G (p.Thr185Ser) | |
10 | g.124400845G>T | CA378633508 | OAT | c.1154C>A (p.Thr385Asn) n.664C>A c.740C>A (p.Thr247Asn) c.833C>A (p.Thr278Asn) c.554C>A (p.Thr185Asn) | gnomAD v4 |
10 | g.124400846T>A | CA378633510 | OAT | c.1153A>T (p.Thr385Ser) n.663A>T c.739A>T (p.Thr247Ser) c.832A>T (p.Thr278Ser) c.553A>T (p.Thr185Ser) | |
10 | g.124400846T>C | CA378633511 | OAT | c.1153A>G (p.Thr385Ala) n.663A>G c.739A>G (p.Thr247Ala) c.832A>G (p.Thr278Ala) c.553A>G (p.Thr185Ala) | |
10 | g.124400846T>G | CA378633512 | OAT | c.1153A>C (p.Thr385Pro) n.663A>C c.739A>C (p.Thr247Pro) c.832A>C (p.Thr278Pro) c.553A>C (p.Thr185Pro) | |
10 | g.124400847T>A | CA378633513 | OAT | c.1152A>T (p.Glu384Asp) n.662A>T c.738A>T (p.Glu246Asp) c.831A>T (p.Glu277Asp) c.552A>T (p.Glu184Asp) | gnomAD v4 |
10 | g.124400847T>C | CA471762598 | OAT | c.1152A>G (p.Glu384=) n.662A>G c.738A>G (p.Glu246=) c.831A>G (p.Glu277=) c.552A>G (p.Glu184=) | gnomAD v4 |
10 | g.124400847T>G | CA378633514 | OAT | c.1152A>C (p.Glu384Asp) n.662A>C c.738A>C (p.Glu246Asp) c.831A>C (p.Glu277Asp) c.552A>C (p.Glu184Asp) | |
10 | g.124400848T>A | CA378633515 | OAT | c.1151A>T (p.Glu384Val) n.661A>T c.737A>T (p.Glu246Val) c.830A>T (p.Glu277Val) c.551A>T (p.Glu184Val) | |
10 | g.124400848T>C | CA378633516 | OAT | c.1151A>G (p.Glu384Gly) n.661A>G c.737A>G (p.Glu246Gly) c.830A>G (p.Glu277Gly) c.551A>G (p.Glu184Gly) | dbSNP |
10 | g.124400848T>G | CA378633517 | OAT | c.1151A>C (p.Glu384Ala) n.661A>C c.737A>C (p.Glu246Ala) c.830A>C (p.Glu277Ala) c.551A>C (p.Glu184Ala) | |
10 | g.124400848T= | CA1942336990 | OAT | c.1151A= (p.Glu384=) n.661A= c.737A= (p.Glu246=) c.830A= (p.Glu277=) c.551A= (p.Glu184=) | |
10 | g.124400849C>A | CA378633518 | OAT | c.1150G>T (p.Glu384Ter) n.660G>T c.736G>T (p.Glu246Ter) c.829G>T (p.Glu277Ter) c.550G>T (p.Glu184Ter) | ClinVar dbSNP gnomAD v4 |
10 | g.124400849C= | CA1942336991 | OAT | c.1150G= (p.Glu384=) n.660G= c.736G= (p.Glu246=) c.829G= (p.Glu277=) c.550G= (p.Glu184=) | |
10 | g.124400849C>G | CA378633519 | OAT | c.1150G>C (p.Glu384Gln) n.660G>C c.736G>C (p.Glu246Gln) c.829G>C (p.Glu277Gln) c.550G>C (p.Glu184Gln) | |
10 | g.124400849C>T | CA378633520 | OAT | c.1150G>A (p.Glu384Lys) n.660G>A c.736G>A (p.Glu246Lys) c.829G>A (p.Glu277Lys) c.550G>A (p.Glu184Lys) | |
10 | g.124400850T>A | CA378633522 | OAT | c.1149A>T (p.Lys383Asn) n.659A>T c.735A>T (p.Lys245Asn) c.828A>T (p.Lys276Asn) c.549A>T (p.Lys183Asn) | |
10 | g.124400850T>C | CA471762599 | OAT | c.1149A>G (p.Lys383=) n.659A>G c.735A>G (p.Lys245=) c.828A>G (p.Lys276=) c.549A>G (p.Lys183=) | gnomAD v4 |
10 | g.124400850T>G | CA378633521 | OAT | c.1149A>C (p.Lys383Asn) n.659A>C c.735A>C (p.Lys245Asn) c.828A>C (p.Lys276Asn) c.549A>C (p.Lys183Asn) | |
10 | g.124400851T>A | CA378633523 | OAT | c.1148A>T (p.Lys383Ile) n.658A>T c.734A>T (p.Lys245Ile) c.827A>T (p.Lys276Ile) c.548A>T (p.Lys183Ile) | |
10 | g.124400851T>C | CA378633524 | OAT | c.1148A>G (p.Lys383Arg) n.658A>G c.734A>G (p.Lys245Arg) c.827A>G (p.Lys276Arg) c.548A>G (p.Lys183Arg) | |
10 | g.124400851T>G | CA378633525 | OAT | c.1148A>C (p.Lys383Thr) n.658A>C c.734A>C (p.Lys245Thr) c.827A>C (p.Lys276Thr) c.548A>C (p.Lys183Thr) | |
10 | g.124400852T>A | CA378633526 | OAT | c.1147A>T (p.Lys383Ter) n.657A>T c.733A>T (p.Lys245Ter) c.826A>T (p.Lys276Ter) c.547A>T (p.Lys183Ter) | |
10 | g.124400852T>C | CA378633527 | OAT | c.1147A>G (p.Lys383Glu) n.657A>G c.733A>G (p.Lys245Glu) c.826A>G (p.Lys276Glu) c.547A>G (p.Lys183Glu) | gnomAD v4 |
10 | g.124400852T>G | CA378633528 | OAT | c.1147A>C (p.Lys383Gln) n.657A>C c.733A>C (p.Lys245Gln) c.826A>C (p.Lys276Gln) c.547A>C (p.Lys183Gln) | |
10 | g.124400853A>C | CA378633529 | OAT | c.1146T>G (p.Ile382Met) n.656T>G c.732T>G (p.Ile244Met) c.825T>G (p.Ile275Met) c.546T>G (p.Ile182Met) | |
10 | g.124400853A>G | CA471762600 | OAT | c.1146T>C (p.Ile382=) n.656T>C c.732T>C (p.Ile244=) c.825T>C (p.Ile275=) c.546T>C (p.Ile182=) | |
10 | g.124400853A>T | CA471762601 | OAT | c.1146T>A (p.Ile382=) n.656T>A c.732T>A (p.Ile244=) c.825T>A (p.Ile275=) c.546T>A (p.Ile182=) | |
10 | g.124400854A= | CA1942336992 | OAT | c.1145T= (p.Ile382=) n.655T= c.731T= (p.Ile244=) c.824T= (p.Ile275=) c.545T= (p.Ile182=) | |
10 | g.124400854A>C | CA378633530 | OAT | c.1145T>G (p.Ile382Ser) n.655T>G c.731T>G (p.Ile244Ser) c.824T>G (p.Ile275Ser) c.545T>G (p.Ile182Ser) | |
10 | g.124400854A>G | CA378633531 | OAT | c.1145T>C (p.Ile382Thr) n.655T>C c.731T>C (p.Ile244Thr) c.824T>C (p.Ile275Thr) c.545T>C (p.Ile182Thr) | dbSNP |
10 | g.124400854A>T | CA378633532 | OAT | c.1145T>A (p.Ile382Asn) n.655T>A c.731T>A (p.Ile244Asn) c.824T>A (p.Ile275Asn) c.545T>A (p.Ile182Asn) | |
10 | g.124400855T>A | CA378633533 | OAT | c.1144A>T (p.Ile382Phe) n.654A>T c.730A>T (p.Ile244Phe) c.823A>T (p.Ile275Phe) c.544A>T (p.Ile182Phe) | |
10 | g.124400855T>C | CA5733324 | OAT | c.1144A>G (p.Ile382Val) n.654A>G c.730A>G (p.Ile244Val) c.823A>G (p.Ile275Val) c.544A>G (p.Ile182Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400855T>G | CA378633534 | OAT | c.1144A>C (p.Ile382Leu) n.654A>C c.730A>C (p.Ile244Leu) c.823A>C (p.Ile275Leu) c.544A>C (p.Ile182Leu) | |
10 | g.124400855T= | CA1942336993 | OAT | c.1144A= (p.Ile382=) n.654A= c.730A= (p.Ile244=) c.823A= (p.Ile275=) c.544A= (p.Ile182=) | |
10 | g.124400856G>A | CA471762602 | OAT | c.1143C>T (p.Val381=) n.653C>T c.729C>T (p.Val243=) c.822C>T (p.Val274=) c.543C>T (p.Val181=) | |
10 | g.124400856G>C | CA471762604 | OAT | c.1143C>G (p.Val381=) n.653C>G c.729C>G (p.Val243=) c.822C>G (p.Val274=) c.543C>G (p.Val181=) | |
10 | g.124400856G= | CA1942336994 | OAT | c.1143C= (p.Val381=) n.653C= c.729C= (p.Val243=) c.822C= (p.Val274=) c.543C= (p.Val181=) | |
10 | g.124400856G>T | CA471762603 | OAT | c.1143C>A (p.Val381=) n.653C>A c.729C>A (p.Val243=) c.822C>A (p.Val274=) c.543C>A (p.Val181=) | dbSNP gnomAD v4 |
10 | g.124400857A>C | CA378633536 | OAT | c.1142T>G (p.Val381Gly) n.652T>G c.728T>G (p.Val243Gly) c.821T>G (p.Val274Gly) c.542T>G (p.Val181Gly) | |
10 | g.124400857A>G | CA378633537 | OAT | c.1142T>C (p.Val381Ala) n.652T>C c.728T>C (p.Val243Ala) c.821T>C (p.Val274Ala) c.542T>C (p.Val181Ala) | dbSNP |
10 | g.124400857A>T | CA378633535 | OAT | c.1142T>A (p.Val381Asp) n.652T>A c.728T>A (p.Val243Asp) c.821T>A (p.Val274Asp) c.542T>A (p.Val181Asp) | |
10 | g.124400858C>A | CA378633538 | OAT | c.1141G>T (p.Val381Phe) n.651G>T c.727G>T (p.Val243Phe) c.820G>T (p.Val274Phe) c.541G>T (p.Val181Phe) | |
10 | g.124400858C= | CA1942336995 | OAT | c.1141G= (p.Val381=) n.651G= c.727G= (p.Val243=) c.820G= (p.Val274=) c.541G= (p.Val181=) | |
10 | g.124400858C>G | CA378633539 | OAT | c.1141G>C (p.Val381Leu) n.651G>C c.727G>C (p.Val243Leu) c.820G>C (p.Val274Leu) c.541G>C (p.Val181Leu) | |
10 | g.124400858C>T | CA378633540 | OAT | c.1141G>A (p.Val381Ile) n.651G>A c.727G>A (p.Val243Ile) c.820G>A (p.Val274Ile) c.541G>A (p.Val181Ile) | dbSNP gnomAD v2 |
10 | g.124400859A= | CA1942336996 | OAT | c.1140T= (p.Ile380=) n.650T= c.726T= (p.Ile242=) c.819T= (p.Ile273=) c.540T= (p.Ile180=) | |
10 | g.124400859A>C | CA378633541 | OAT | c.1140T>G (p.Ile380Met) n.650T>G c.726T>G (p.Ile242Met) c.819T>G (p.Ile273Met) c.540T>G (p.Ile180Met) | |
10 | g.124400859A>G | CA471762605 | OAT | c.1140T>C (p.Ile380=) n.650T>C c.726T>C (p.Ile242=) c.819T>C (p.Ile273=) c.540T>C (p.Ile180=) | gnomAD v4 |
10 | g.124400859A>T | CA471762606 | OAT | c.1140T>A (p.Ile380=) n.650T>A c.726T>A (p.Ile242=) c.819T>A (p.Ile273=) c.540T>A (p.Ile180=) | dbSNP gnomAD v4 |
10 | g.124400860del | CA2697558796 | OAT | c.1140del (p.Ile380MetfsTer?) n.650del c.726del (p.Ile242MetfsTer?) c.819del (p.Ile273MetfsTer?) c.540del (p.Ile180MetfsTer?) | ClinVar |
10 | g.124400860A= | CA1942336997 | OAT | c.1139T= (p.Ile380=) n.649T= c.725T= (p.Ile242=) c.818T= (p.Ile273=) c.539T= (p.Ile180=) | |
10 | g.124400860A>C | CA378633543 | OAT | c.1139T>G (p.Ile380Ser) n.649T>G c.725T>G (p.Ile242Ser) c.818T>G (p.Ile273Ser) c.539T>G (p.Ile180Ser) | |
10 | g.124400860A>G | CA5733325 | OAT | c.1139T>C (p.Ile380Thr) n.649T>C c.725T>C (p.Ile242Thr) c.818T>C (p.Ile273Thr) c.539T>C (p.Ile180Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.124400860A>T | CA378633542 | OAT | c.1139T>A (p.Ile380Asn) n.649T>A c.725T>A (p.Ile242Asn) c.818T>A (p.Ile273Asn) c.539T>A (p.Ile180Asn) | |
10 | g.124400861T>A | CA378633544 | OAT | c.1138A>T (p.Ile380Phe) n.648A>T c.724A>T (p.Ile242Phe) c.817A>T (p.Ile273Phe) c.538A>T (p.Ile180Phe) | |
10 | g.124400861T>C | CA5733326 | OAT | c.1138A>G (p.Ile380Val) n.648A>G c.724A>G (p.Ile242Val) c.817A>G (p.Ile273Val) c.538A>G (p.Ile180Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400861T>G | CA378633545 | OAT | c.1138A>C (p.Ile380Leu) n.648A>C c.724A>C (p.Ile242Leu) c.817A>C (p.Ile273Leu) c.538A>C (p.Ile180Leu) | |
10 | g.124400861T= | CA1942336998 | OAT | c.1138A= (p.Ile380=) n.648A= c.724A= (p.Ile242=) c.817A= (p.Ile273=) c.538A= (p.Ile180=) | |
10 | g.124400862A= | CA1942336999 | OAT | c.1137T= (p.Ala379=) n.647T= c.723T= (p.Ala241=) c.816T= (p.Ala272=) c.537T= (p.Ala179=) | |
10 | g.124400862A>C | CA471762607 | OAT | c.1137T>G (p.Ala379=) n.647T>G c.723T>G (p.Ala241=) c.816T>G (p.Ala272=) c.537T>G (p.Ala179=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400862A>G | CA471762609 | OAT | c.1137T>C (p.Ala379=) n.647T>C c.723T>C (p.Ala241=) c.816T>C (p.Ala272=) c.537T>C (p.Ala179=) | ClinVar dbSNP |
10 | g.124400862A>T | CA471762608 | OAT | c.1137T>A (p.Ala379=) n.647T>A c.723T>A (p.Ala241=) c.816T>A (p.Ala272=) c.537T>A (p.Ala179=) | |
10 | g.124400863G>A | CA378633546 | OAT | c.1136C>T (p.Ala379Val) n.646C>T c.722C>T (p.Ala241Val) c.815C>T (p.Ala272Val) c.536C>T (p.Ala179Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400863G>C | CA378633547 | OAT | c.1136C>G (p.Ala379Gly) n.646C>G c.722C>G (p.Ala241Gly) c.815C>G (p.Ala272Gly) c.536C>G (p.Ala179Gly) | |
10 | g.124400863G= | CA1942337000 | OAT | c.1136C= (p.Ala379=) n.646C= c.722C= (p.Ala241=) c.815C= (p.Ala272=) c.536C= (p.Ala179=) | |
10 | g.124400863G>T | CA378633548 | OAT | c.1136C>A (p.Ala379Asp) n.646C>A c.722C>A (p.Ala241Asp) c.815C>A (p.Ala272Asp) c.536C>A (p.Ala179Asp) | gnomAD v4 |
10 | g.124400864C>A | CA378633549 | OAT | c.1135G>T (p.Ala379Ser) n.645G>T c.721G>T (p.Ala241Ser) c.814G>T (p.Ala272Ser) c.535G>T (p.Ala179Ser) | gnomAD v4 |
10 | g.124400864C= | CA1942337001 | OAT | c.1135G= (p.Ala379=) n.645G= c.721G= (p.Ala241=) c.814G= (p.Ala272=) c.535G= (p.Ala179=) | |
10 | g.124400864C>G | CA378633551 | OAT | c.1135G>C (p.Ala379Pro) n.645G>C c.721G>C (p.Ala241Pro) c.814G>C (p.Ala272Pro) c.535G>C (p.Ala179Pro) | |
10 | g.124400864C>T | CA378633550 | OAT | c.1135G>A (p.Ala379Thr) n.645G>A c.721G>A (p.Ala241Thr) c.814G>A (p.Ala272Thr) c.535G>A (p.Ala179Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400865G>A | CA113955 | OAT | c.1134C>T (p.Asn378=) n.644C>T c.720C>T (p.Asn240=) c.813C>T (p.Asn271=) c.534C>T (p.Asn178=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.124400865G>C | CA378633553 | OAT | c.1134C>G (p.Asn378Lys) n.644C>G c.720C>G (p.Asn240Lys) c.813C>G (p.Asn271Lys) c.534C>G (p.Asn178Lys) | gnomAD v4 |
10 | g.124400865G= | CA1942337002 | OAT | c.1134C= (p.Asn378=) n.644C= c.720C= (p.Asn240=) c.813C= (p.Asn271=) c.534C= (p.Asn178=) | |
10 | g.124400865G>T | CA378633552 | OAT | c.1134C>A (p.Asn378Lys) n.644C>A c.720C>A (p.Asn240Lys) c.813C>A (p.Asn271Lys) c.534C>A (p.Asn178Lys) | gnomAD v4 |
10 | g.124400866T>A | CA378633554 | OAT | c.1133A>T (p.Asn378Ile) n.643A>T c.719A>T (p.Asn240Ile) c.812A>T (p.Asn271Ile) c.533A>T (p.Asn178Ile) | |
10 | g.124400866T>C | CA378633555 | OAT | c.1133A>G (p.Asn378Ser) n.643A>G c.719A>G (p.Asn240Ser) c.812A>G (p.Asn271Ser) c.533A>G (p.Asn178Ser) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.124400866T>G | CA378633556 | OAT | c.1133A>C (p.Asn378Thr) n.643A>C c.719A>C (p.Asn240Thr) c.812A>C (p.Asn271Thr) c.533A>C (p.Asn178Thr) | |
10 | g.124400866T= | CA1942337003 | OAT | c.1133A= (p.Asn378=) n.643A= c.719A= (p.Asn240=) c.812A= (p.Asn271=) c.533A= (p.Asn178=) | |
10 | g.124400867T>A | CA378633557 | OAT | c.1132A>T (p.Asn378Tyr) n.642A>T c.718A>T (p.Asn240Tyr) c.811A>T (p.Asn271Tyr) c.532A>T (p.Asn178Tyr) | |
10 | g.124400867T>C | CA378633558 | OAT | c.1132A>G (p.Asn378Asp) n.642A>G c.718A>G (p.Asn240Asp) c.811A>G (p.Asn271Asp) c.532A>G (p.Asn178Asp) | |
10 | g.124400867T>G | CA378633559 | OAT | c.1132A>C (p.Asn378His) n.642A>C c.718A>C (p.Asn240His) c.811A>C (p.Asn271His) c.532A>C (p.Asn178His) | |
10 | g.124400868T>A | CA378633560 | OAT | c.1131A>T (p.Leu377Phe) n.641A>T c.717A>T (p.Leu239Phe) c.810A>T (p.Leu270Phe) c.531A>T (p.Leu177Phe) | gnomAD v4 |
10 | g.124400868T>C | CA471762610 | OAT | c.1131A>G (p.Leu377=) n.641A>G c.717A>G (p.Leu239=) c.810A>G (p.Leu270=) c.531A>G (p.Leu177=) | |
10 | g.124400868T>G | CA378633561 | OAT | c.1131A>C (p.Leu377Phe) n.641A>C c.717A>C (p.Leu239Phe) c.810A>C (p.Leu270Phe) c.531A>C (p.Leu177Phe) | |
10 | g.124400869A>C | CA378633562 | OAT | c.1130T>G (p.Leu377Ter) n.640T>G c.716T>G (p.Leu239Ter) c.809T>G (p.Leu270Ter) c.530T>G (p.Leu177Ter) | |
10 | g.124400869A>G | CA378633563 | OAT | c.1130T>C (p.Leu377Ser) n.640T>C c.716T>C (p.Leu239Ser) c.809T>C (p.Leu270Ser) c.530T>C (p.Leu177Ser) | |
10 | g.124400869A>T | CA378633564 | OAT | c.1130T>A (p.Leu377Ter) n.640T>A c.716T>A (p.Leu239Ter) c.809T>A (p.Leu270Ter) c.530T>A (p.Leu177Ter) | |
10 | g.124400870A>C | CA378633565 | OAT | c.1129T>G (p.Leu377Val) n.639T>G c.715T>G (p.Leu239Val) c.808T>G (p.Leu270Val) c.529T>G (p.Leu177Val) | |
10 | g.124400870A>G | CA471762611 | OAT | c.1129T>C (p.Leu377=) n.639T>C c.715T>C (p.Leu239=) c.808T>C (p.Leu270=) c.529T>C (p.Leu177=) | |
10 | g.124400870A>T | CA378633566 | OAT | c.1129T>A (p.Leu377Ile) n.639T>A c.715T>A (p.Leu239Ile) c.808T>A (p.Leu270Ile) c.529T>A (p.Leu177Ile) | |
10 | g.124400871T>A | CA378633567 | OAT | c.1128A>T (p.Leu376Phe) n.638A>T c.714A>T (p.Leu238Phe) c.807A>T (p.Leu269Phe) c.528A>T (p.Leu176Phe) | gnomAD v4 |
10 | g.124400871T>C | CA471762612 | OAT | c.1128A>G (p.Leu376=) n.638A>G c.714A>G (p.Leu238=) c.807A>G (p.Leu269=) c.528A>G (p.Leu176=) | |
10 | g.124400871T>G | CA378633568 | OAT | c.1128A>C (p.Leu376Phe) n.638A>C c.714A>C (p.Leu238Phe) c.807A>C (p.Leu269Phe) c.528A>C (p.Leu176Phe) | |
10 | g.124400872A>C | CA378633569 | OAT | c.1127T>G (p.Leu376Ter) n.637T>G c.713T>G (p.Leu238Ter) c.806T>G (p.Leu269Ter) c.527T>G (p.Leu176Ter) | |
10 | g.124400872A>G | CA378633570 | OAT | c.1127T>C (p.Leu376Ser) n.637T>C c.713T>C (p.Leu238Ser) c.806T>C (p.Leu269Ser) c.527T>C (p.Leu176Ser) | |
10 | g.124400872A>T | CA378633571 | OAT | c.1127T>A (p.Leu376Ter) n.637T>A c.713T>A (p.Leu238Ter) c.806T>A (p.Leu269Ter) c.527T>A (p.Leu176Ter) | gnomAD v4 |
10 | g.124400873A>C | CA378633572 | OAT | c.1126T>G (p.Leu376Val) n.636T>G c.712T>G (p.Leu238Val) c.805T>G (p.Leu269Val) c.526T>G (p.Leu176Val) | |
10 | g.124400873A>G | CA471762613 | OAT | c.1126T>C (p.Leu376=) n.636T>C c.712T>C (p.Leu238=) c.805T>C (p.Leu269=) c.526T>C (p.Leu176=) | ClinVar dbSNP |
10 | g.124400873A>T | CA378633573 | OAT | c.1126T>A (p.Leu376Ile) n.636T>A c.712T>A (p.Leu238Ile) c.805T>A (p.Leu269Ile) c.526T>A (p.Leu176Ile) | |
10 | g.124400874T>A | CA471762614 | OAT | c.1125A>T (p.Gly375=) n.635A>T c.711A>T (p.Gly237=) c.804A>T (p.Gly268=) c.525A>T (p.Gly175=) | |
10 | g.124400874T>C | CA471762615 | OAT | c.1125A>G (p.Gly375=) n.635A>G c.711A>G (p.Gly237=) c.804A>G (p.Gly268=) c.525A>G (p.Gly175=) | ClinVar dbSNP gnomAD v4 |
10 | g.124400874T>G | CA471762616 | OAT | c.1125A>C (p.Gly375=) n.635A>C c.711A>C (p.Gly237=) c.804A>C (p.Gly268=) c.525A>C (p.Gly175=) | |
10 | g.124400874T= | CA1942337004 | OAT | c.1125A= (p.Gly375=) n.635A= c.711A= (p.Gly237=) c.804A= (p.Gly268=) c.525A= (p.Gly175=) |