Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50180482A>G | CA2504737087 | SOS2 | c.969+90T>C (n.969+90T>C) c.83+90T>C c.789+90T>C (n.789+90T>C) c.930+90T>C (n.930+90T>C) n.954-3305A>G | dbSNP gnomAD v4 |
14 | g.50180483G>A | CA2839623911 | SOS2 | c.969+89C>T (n.969+89C>T) c.83+89C>T c.789+89C>T (n.789+89C>T) c.930+89C>T (n.930+89C>T) n.954-3304G>A | |
14 | g.50180483G>T | CA2575539781 | SOS2 | c.969+89C>A (n.969+89C>A) c.83+89C>A c.789+89C>A (n.789+89C>A) c.930+89C>A (n.930+89C>A) n.954-3304G>T | gnomAD v4 |
14 | g.50180485A= | CA2136084347 | SOS2 | c.969+87T= (n.969+87T=) c.83+87T= c.789+87T= (n.789+87T=) c.930+87T= (n.930+87T=) n.954-3302A= | |
14 | g.50180485A>G | CA2136084348 | SOS2 | c.969+87T>C (n.969+87T>C) c.83+87T>C c.789+87T>C (n.789+87T>C) c.930+87T>C (n.930+87T>C) n.954-3302A>G | dbSNP |
14 | g.50180486T>G | CA2841229639 | SOS2 | c.969+86A>C (n.969+86A>C) c.83+86A>C c.789+86A>C (n.789+86A>C) c.930+86A>C (n.930+86A>C) n.954-3301T>G | |
14 | g.50180487T>G | CA2624771884 | SOS2 | c.969+85A>C (n.969+85A>C) c.83+85A>C c.789+85A>C (n.789+85A>C) c.930+85A>C (n.930+85A>C) n.954-3300T>G | gnomAD v4 |
14 | g.50180488A>G | CA2624771885 | SOS2 | c.969+84T>C (n.969+84T>C) c.83+84T>C c.789+84T>C (n.789+84T>C) c.930+84T>C (n.930+84T>C) n.954-3299A>G | gnomAD v4 |
14 | g.50180489C>A | CA963008725 | SOS2 | c.969+83G>T (n.969+83G>T) c.83+83G>T c.789+83G>T (n.789+83G>T) c.930+83G>T (n.930+83G>T) n.954-3298C>A | gnomAD v3 gnomAD v4 |
14 | g.50180491A>T | CA2575539782 | SOS2 | c.969+81T>A (n.969+81T>A) c.83+81T>A c.789+81T>A (n.789+81T>A) c.930+81T>A (n.930+81T>A) n.954-3296A>T | |
14 | g.50180493T>A | CA963008726 | SOS2 | c.969+79A>T (n.969+79A>T) c.83+79A>T c.789+79A>T (n.789+79A>T) c.930+79A>T (n.930+79A>T) n.954-3294T>A | gnomAD v3 gnomAD v4 |
14 | g.50180493T>G | CA2624771887 | SOS2 | c.969+79A>C (n.969+79A>C) c.83+79A>C c.789+79A>C (n.789+79A>C) c.930+79A>C (n.930+79A>C) n.954-3294T>G | gnomAD v4 |
14 | g.50180494A= | CA2136084351 | SOS2 | c.969+78T= (n.969+78T=) c.83+78T= c.789+78T= (n.789+78T=) c.930+78T= (n.930+78T=) n.954-3293A= | |
14 | g.50180494A>C | CA2801534796 | SOS2 | c.969+78T>G (n.969+78T>G) c.83+78T>G c.789+78T>G (n.789+78T>G) c.930+78T>G (n.930+78T>G) n.954-3293A>C | |
14 | g.50180494A>G | CA2136084350 | SOS2 | c.969+78T>C (n.969+78T>C) c.83+78T>C c.789+78T>C (n.789+78T>C) c.930+78T>C (n.930+78T>C) n.954-3293A>G | dbSNP |
14 | g.50180495T>C | CA706566544 | SOS2 | c.969+77A>G (n.969+77A>G) c.83+77A>G c.789+77A>G (n.789+77A>G) c.930+77A>G (n.930+77A>G) n.954-3292T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180495T= | CA2136084353 | SOS2 | c.969+77A= (n.969+77A=) c.83+77A= c.789+77A= (n.789+77A=) c.930+77A= (n.930+77A=) n.954-3292T= | |
14 | g.50180496T>G | CA2624771890 | SOS2 | c.969+76A>C (n.969+76A>C) c.83+76A>C c.789+76A>C (n.789+76A>C) c.930+76A>C (n.930+76A>C) n.954-3291T>G | gnomAD v4 |
14 | g.50180497T>G | CA2624771892 | SOS2 | c.969+75A>C (n.969+75A>C) c.83+75A>C c.789+75A>C (n.789+75A>C) c.930+75A>C (n.930+75A>C) n.954-3290T>G | gnomAD v4 |
14 | g.50180498G>T | CA2575539783 | SOS2 | c.969+74C>A (n.969+74C>A) c.83+74C>A c.789+74C>A (n.789+74C>A) c.930+74C>A (n.930+74C>A) n.954-3289G>T | gnomAD v4 |
14 | g.50180499A= | CA2136084355 | SOS2 | c.969+73T= (n.969+73T=) c.83+73T= c.789+73T= (n.789+73T=) c.930+73T= (n.930+73T=) n.954-3288A= | |
14 | g.50180499A>G | CA260706261 | SOS2 | c.969+73T>C (n.969+73T>C) c.83+73T>C c.789+73T>C (n.789+73T>C) c.930+73T>C (n.930+73T>C) n.954-3288A>G | dbSNP |
14 | g.50180501G>A | CA260706265 | SOS2 | c.969+71C>T (n.969+71C>T) c.83+71C>T c.789+71C>T (n.789+71C>T) c.930+71C>T (n.930+71C>T) n.954-3286G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180501G= | CA2136084357 | SOS2 | c.969+71C= (n.969+71C=) c.83+71C= c.789+71C= (n.789+71C=) c.930+71C= (n.930+71C=) n.954-3286G= | |
14 | g.50180501G>T | CA2624771896 | SOS2 | c.969+71C>A (n.969+71C>A) c.83+71C>A c.789+71C>A (n.789+71C>A) c.930+71C>A (n.930+71C>A) n.954-3286G>T | gnomAD v4 |
14 | g.50180502G>A | CA963008729 | SOS2 | c.969+70C>T (n.969+70C>T) c.83+70C>T c.789+70C>T (n.789+70C>T) c.930+70C>T (n.930+70C>T) n.954-3285G>A | gnomAD v3 gnomAD v4 |
14 | g.50180502G= | CA2136084360 | SOS2 | c.969+70C= (n.969+70C=) c.83+70C= c.789+70C= (n.789+70C=) c.930+70C= (n.930+70C=) n.954-3285G= | |
14 | g.50180502G>T | CA613838887 | SOS2 | c.969+70C>A (n.969+70C>A) c.83+70C>A c.789+70C>A (n.789+70C>A) c.930+70C>A (n.930+70C>A) n.954-3285G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180503A>G | CA2624771898 | SOS2 | c.969+69T>C (n.969+69T>C) c.83+69T>C c.789+69T>C (n.789+69T>C) c.930+69T>C (n.930+69T>C) n.954-3284A>G | gnomAD v4 |
14 | g.50180504T>A | CA963008730 | SOS2 | c.969+68A>T (n.969+68A>T) c.83+68A>T c.789+68A>T (n.789+68A>T) c.930+68A>T (n.930+68A>T) n.954-3283T>A | gnomAD v3 gnomAD v4 |
14 | g.50180504T>G | CA2624771899 | SOS2 | c.969+68A>C (n.969+68A>C) c.83+68A>C c.789+68A>C (n.789+68A>C) c.930+68A>C (n.930+68A>C) n.954-3283T>G | gnomAD v4 |
14 | g.50180508del | CA2575539785 | SOS2 | c.969+67del (n.969+67del) c.83+67del c.789+67del (n.789+67del) c.930+67del (n.930+67del) n.954-3279del | gnomAD v4 |
14 | g.50180508A= | CA2136084361 | SOS2 | c.969+64T= (n.969+64T=) c.83+64T= c.789+64T= (n.789+64T=) c.930+64T= (n.930+64T=) n.954-3279A= | |
14 | g.50180508A>C | CA706566549 | SOS2 | c.969+64T>G (n.969+64T>G) c.83+64T>G c.789+64T>G (n.789+64T>G) c.930+64T>G (n.930+64T>G) n.954-3279A>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180509T>A | CA963008733 | SOS2 | c.969+63A>T (n.969+63A>T) c.83+63A>T c.789+63A>T (n.789+63A>T) c.930+63A>T (n.930+63A>T) n.954-3278T>A | gnomAD v3 gnomAD v4 |
14 | g.50180509T>C | CA260706269 | SOS2 | c.969+63A>G (n.969+63A>G) c.83+63A>G c.789+63A>G (n.789+63A>G) c.930+63A>G (n.930+63A>G) n.954-3278T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180509T>G | CA963008738 | SOS2 | c.969+63A>C (n.969+63A>C) c.83+63A>C c.789+63A>C (n.789+63A>C) c.930+63A>C (n.930+63A>C) n.954-3278T>G | gnomAD v3 gnomAD v4 |
14 | g.50180509T= | CA2136084366 | SOS2 | c.969+63A= (n.969+63A=) c.83+63A= c.789+63A= (n.789+63A=) c.930+63A= (n.930+63A=) n.954-3278T= | |
14 | g.50180509_50180513delinsTAGTG | CA2136084369 | SOS2 | c.969+59_969+63delinsCACTA (n.969+59_969+63delinsCACTA) c.83+59_83+63delinsCACTA c.789+59_789+63delinsCACTA (n.789+59_789+63delinsCACTA) c.930+59_930+63delinsCACTA (n.930+59_930+63delinsCACTA) n.954-3278_954-3274delinsTAGTG | |
14 | g.50180509_50180533del | CA2624771901 | SOS2 | c.969+39_969+63del (n.969+39_969+63del) c.83+39_83+63del c.789+39_789+63del (n.789+39_789+63del) c.930+39_930+63del (n.930+39_930+63del) n.954-3278_954-3254del | gnomAD v4 |
14 | g.50180510A>G | CA2624771906 | SOS2 | c.969+62T>C (n.969+62T>C) c.83+62T>C c.789+62T>C (n.789+62T>C) c.930+62T>C (n.930+62T>C) n.954-3277A>G | gnomAD v4 |
14 | g.50180512_50180515del | CA260706273 | SOS2 | c.969+59_969+62del (n.969+59_969+62del) c.83+59_83+62del c.789+59_789+62del (n.789+59_789+62del) c.930+59_930+62del (n.930+59_930+62del) n.954-3275_954-3272del | dbSNP gnomAD v4 |
14 | g.50180511G>A | CA260706278 | SOS2 | c.969+61C>T (n.969+61C>T) c.83+61C>T c.789+61C>T (n.789+61C>T) c.930+61C>T (n.930+61C>T) n.954-3276G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180511G= | CA2136084372 | SOS2 | c.969+61C= (n.969+61C=) c.83+61C= c.789+61C= (n.789+61C=) c.930+61C= (n.930+61C=) n.954-3276G= | |
14 | g.50180511G>T | CA963008739 | SOS2 | c.969+61C>A (n.969+61C>A) c.83+61C>A c.789+61C>A (n.789+61C>A) c.930+61C>A (n.930+61C>A) n.954-3276G>T | gnomAD v3 gnomAD v4 |
14 | g.50180512T>A | CA963008743 | SOS2 | c.969+60A>T (n.969+60A>T) c.83+60A>T c.789+60A>T (n.789+60A>T) c.930+60A>T (n.930+60A>T) n.954-3275T>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180512T>C | CA706566555 | SOS2 | c.969+60A>G (n.969+60A>G) c.83+60A>G c.789+60A>G (n.789+60A>G) c.930+60A>G (n.930+60A>G) n.954-3275T>C | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180512T>G | CA963008742 | SOS2 | c.969+60A>C (n.969+60A>C) c.83+60A>C c.789+60A>C (n.789+60A>C) c.930+60A>C (n.930+60A>C) n.954-3275T>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180512T= | CA2136084376 | SOS2 | c.969+60A= (n.969+60A=) c.83+60A= c.789+60A= (n.789+60A=) c.930+60A= (n.930+60A=) n.954-3275T= | |
14 | g.50180513G>A | CA963008744 | SOS2 | c.969+59C>T (n.969+59C>T) c.83+59C>T c.789+59C>T (n.789+59C>T) c.930+59C>T (n.930+59C>T) n.954-3274G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180513G>C | CA2624771912 | SOS2 | c.969+59C>G (n.969+59C>G) c.83+59C>G c.789+59C>G (n.789+59C>G) c.930+59C>G (n.930+59C>G) n.954-3274G>C | gnomAD v4 |
14 | g.50180513G= | CA2136084379 | SOS2 | c.969+59C= (n.969+59C=) c.83+59C= c.789+59C= (n.789+59C=) c.930+59C= (n.930+59C=) n.954-3274G= | |
14 | g.50180513G>T | CA963008745 | SOS2 | c.969+59C>A (n.969+59C>A) c.83+59C>A c.789+59C>A (n.789+59C>A) c.930+59C>A (n.930+59C>A) n.954-3274G>T | gnomAD v3 gnomAD v4 |
14 | g.50180514A= | CA2136084380 | SOS2 | c.969+58T= (n.969+58T=) c.83+58T= c.789+58T= (n.789+58T=) c.930+58T= (n.930+58T=) n.954-3273A= | |
14 | g.50180514A>G | CA2624771915 | SOS2 | c.969+58T>C (n.969+58T>C) c.83+58T>C c.789+58T>C (n.789+58T>C) c.930+58T>C (n.930+58T>C) n.954-3273A>G | gnomAD v4 |
14 | g.50180514A>T | CA963008746 | SOS2 | c.969+58T>A (n.969+58T>A) c.83+58T>A c.789+58T>A (n.789+58T>A) c.930+58T>A (n.930+58T>A) n.954-3273A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180515G>A | CA963008747 | SOS2 | c.969+57C>T (n.969+57C>T) c.83+57C>T c.789+57C>T (n.789+57C>T) c.930+57C>T (n.930+57C>T) n.954-3272G>A | gnomAD v3 gnomAD v4 |
14 | g.50180515G>T | CA963008749 | SOS2 | c.969+57C>A (n.969+57C>A) c.83+57C>A c.789+57C>A (n.789+57C>A) c.930+57C>A (n.930+57C>A) n.954-3272G>T | gnomAD v3 gnomAD v4 |
14 | g.50180516A>G | CA2624771918 | SOS2 | c.969+56T>C (n.969+56T>C) c.83+56T>C c.789+56T>C (n.789+56T>C) c.930+56T>C (n.930+56T>C) n.954-3271A>G | gnomAD v4 |
14 | g.50180516A>T | CA2624771920 | SOS2 | c.969+56T>A (n.969+56T>A) c.83+56T>A c.789+56T>A (n.789+56T>A) c.930+56T>A (n.930+56T>A) n.954-3271A>T | gnomAD v4 |
14 | g.50180517T>C | CA706566559 | SOS2 | c.969+55A>G (n.969+55A>G) c.83+55A>G c.789+55A>G (n.789+55A>G) c.930+55A>G (n.930+55A>G) n.954-3270T>C | dbSNP gnomAD v4 |
14 | g.50180517T= | CA2136084382 | SOS2 | c.969+55A= (n.969+55A=) c.83+55A= c.789+55A= (n.789+55A=) c.930+55A= (n.930+55A=) n.954-3270T= | |
14 | g.50180522_50180525del | CA2801534797 | SOS2 | c.969+52_969+55del (n.969+52_969+55del) c.83+52_83+55del c.789+52_789+55del (n.789+52_789+55del) c.930+52_930+55del (n.930+52_930+55del) n.954-3265_954-3262del | |
14 | g.50180518A>G | CA2624771922 | SOS2 | c.969+54T>C (n.969+54T>C) c.83+54T>C c.789+54T>C (n.789+54T>C) c.930+54T>C (n.930+54T>C) n.954-3269A>G | gnomAD v4 |
14 | g.50180518A>T | CA963008750 | SOS2 | c.969+54T>A (n.969+54T>A) c.83+54T>A c.789+54T>A (n.789+54T>A) c.930+54T>A (n.930+54T>A) n.954-3269A>T | gnomAD v3 gnomAD v4 |
14 | g.50180519T>C | CA2575539789 | SOS2 | c.969+53A>G (n.969+53A>G) c.83+53A>G c.789+53A>G (n.789+53A>G) c.930+53A>G (n.930+53A>G) n.954-3268T>C | gnomAD v4 |
14 | g.50180520T>G | CA2624771925 | SOS2 | c.969+52A>C (n.969+52A>C) c.83+52A>C c.789+52A>C (n.789+52A>C) c.930+52A>C (n.930+52A>C) n.954-3267T>G | gnomAD v4 |
14 | g.50180521T>C | CA613838888 | SOS2 | c.969+51A>G (n.969+51A>G) c.83+51A>G c.789+51A>G (n.789+51A>G) c.930+51A>G (n.930+51A>G) n.954-3266T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180521T= | CA2136084383 | SOS2 | c.969+51A= (n.969+51A=) c.83+51A= c.789+51A= (n.789+51A=) c.930+51A= (n.930+51A=) n.954-3266T= | |
14 | g.50180522A>T | CA963008752 | SOS2 | c.969+50T>A (n.969+50T>A) c.83+50T>A c.789+50T>A (n.789+50T>A) c.930+50T>A (n.930+50T>A) n.954-3265A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180523T>A | CA2624771929 | SOS2 | c.969+49A>T (n.969+49A>T) c.83+49A>T c.789+49A>T (n.789+49A>T) c.930+49A>T (n.930+49A>T) n.954-3264T>A | gnomAD v4 |
14 | g.50180524T>C | CA260706279 | SOS2 | c.969+48A>G (n.969+48A>G) c.83+48A>G c.789+48A>G (n.789+48A>G) c.930+48A>G (n.930+48A>G) n.954-3263T>C | dbSNP |
14 | g.50180524T>G | CA963008753 | SOS2 | c.969+48A>C (n.969+48A>C) c.83+48A>C c.789+48A>C (n.789+48A>C) c.930+48A>C (n.930+48A>C) n.954-3263T>G | gnomAD v3 gnomAD v4 |
14 | g.50180524T= | CA2136084385 | SOS2 | c.969+48A= (n.969+48A=) c.83+48A= c.789+48A= (n.789+48A=) c.930+48A= (n.930+48A=) n.954-3263T= | |
14 | g.50180525T>A | CA2624771930 | SOS2 | c.969+47A>T (n.969+47A>T) c.83+47A>T c.789+47A>T (n.789+47A>T) c.930+47A>T (n.930+47A>T) n.954-3262T>A | gnomAD v4 |
14 | g.50180525T>G | CA2624771931 | SOS2 | c.969+47A>C (n.969+47A>C) c.83+47A>C c.789+47A>C (n.789+47A>C) c.930+47A>C (n.930+47A>C) n.954-3262T>G | gnomAD v4 |
14 | g.50180526G>C | CA2624771933 | SOS2 | c.969+46C>G (n.969+46C>G) c.83+46C>G c.789+46C>G (n.789+46C>G) c.930+46C>G (n.930+46C>G) n.954-3261G>C | gnomAD v4 |
14 | g.50180526G>T | CA963008755 | SOS2 | c.969+46C>A (n.969+46C>A) c.83+46C>A c.789+46C>A (n.789+46C>A) c.930+46C>A (n.930+46C>A) n.954-3261G>T | gnomAD v3 gnomAD v4 |
14 | g.50180527C>A | CA963008757 | SOS2 | c.969+45G>T (n.969+45G>T) c.83+45G>T c.789+45G>T (n.789+45G>T) c.930+45G>T (n.930+45G>T) n.954-3260C>A | gnomAD v3 gnomAD v4 |
14 | g.50180527C= | CA2136084389 | SOS2 | c.969+45G= (n.969+45G=) c.83+45G= c.789+45G= (n.789+45G=) c.930+45G= (n.930+45G=) n.954-3260C= | |
14 | g.50180527C>T | CA7177380 | SOS2 | c.969+45G>A (n.969+45G>A) c.83+45G>A c.789+45G>A (n.789+45G>A) c.930+45G>A (n.930+45G>A) n.954-3260C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180528T>C | CA260706288 | SOS2 | c.969+44A>G (n.969+44A>G) c.83+44A>G c.789+44A>G (n.789+44A>G) c.930+44A>G (n.930+44A>G) n.954-3259T>C | dbSNP |
14 | g.50180528T>G | CA2841229640 | SOS2 | c.969+44A>C (n.969+44A>C) c.83+44A>C c.789+44A>C (n.789+44A>C) c.930+44A>C (n.930+44A>C) n.954-3259T>G | |
14 | g.50180528T= | CA2136084391 | SOS2 | c.969+44A= (n.969+44A=) c.83+44A= c.789+44A= (n.789+44A=) c.930+44A= (n.930+44A=) n.954-3259T= | |
14 | g.50180530del | CA963008758 | SOS2 | c.969+44del (n.969+44del) c.83+44del c.789+44del (n.789+44del) c.930+44del (n.930+44del) n.954-3257del | gnomAD v3 gnomAD v4 |
14 | g.50180529T>G | CA2624771942 | SOS2 | c.969+43A>C (n.969+43A>C) c.83+43A>C c.789+43A>C (n.789+43A>C) c.930+43A>C (n.930+43A>C) n.954-3258T>G | gnomAD v4 |
14 | g.50180532_50180534del | CA2540495489 | SOS2 | c.969+41_969+43del (n.969+41_969+43del) c.83+41_83+43del c.789+41_789+43del (n.789+41_789+43del) c.930+41_930+43del (n.930+41_930+43del) n.954-3255_954-3253del | gnomAD v4 |
14 | g.50180530T>A | CA963008760 | SOS2 | c.969+42A>T (n.969+42A>T) c.83+42A>T c.789+42A>T (n.789+42A>T) c.930+42A>T (n.930+42A>T) n.954-3257T>A | gnomAD v3 gnomAD v4 |
14 | g.50180530T>C | CA7177381 | SOS2 | c.969+42A>G (n.969+42A>G) c.83+42A>G c.789+42A>G (n.789+42A>G) c.930+42A>G (n.930+42A>G) n.954-3257T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180530T>G | CA613838889 | SOS2 | c.969+42A>C (n.969+42A>C) c.83+42A>C c.789+42A>C (n.789+42A>C) c.930+42A>C (n.930+42A>C) n.954-3257T>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180530T= | CA2136084397 | SOS2 | c.969+42A= (n.969+42A=) c.83+42A= c.789+42A= (n.789+42A=) c.930+42A= (n.930+42A=) n.954-3257T= | |
14 | g.50180530_50180531delinsTA | CA2136084399 | SOS2 | c.969+41_969+42delinsTA (n.969+41_969+42delinsTA) c.83+41_83+42delinsTA c.789+41_789+42delinsTA (n.789+41_789+42delinsTA) c.930+41_930+42delinsTA (n.930+41_930+42delinsTA) n.954-3257_954-3256delinsTA | |
14 | g.50180531_50180532del | CA2624771947 | SOS2 | c.969+41_969+42del (n.969+41_969+42del) c.83+41_83+42del c.789+41_789+42del (n.789+41_789+42del) c.930+41_930+42del (n.930+41_930+42del) n.954-3256_954-3255del | gnomAD v4 |
14 | g.50180530_50180534delinsTATTA | CA2136084400 | SOS2 | c.969+38_969+42delinsTAATA (n.969+38_969+42delinsTAATA) c.83+38_83+42delinsTAATA c.789+38_789+42delinsTAATA (n.789+38_789+42delinsTAATA) c.930+38_930+42delinsTAATA (n.930+38_930+42delinsTAATA) n.954-3257_954-3253delinsTATTA | |
14 | g.50180531del | CA260706295 | SOS2 | c.969+41del (n.969+41del) c.83+41del c.789+41del (n.789+41del) c.930+41del (n.930+41del) n.954-3256del | dbSNP gnomAD v4 |
14 | g.50180531A= | CA2136084407 | SOS2 | c.969+41T= (n.969+41T=) c.83+41T= c.789+41T= (n.789+41T=) c.930+41T= (n.930+41T=) n.954-3256A= | |
14 | g.50180531A>T | CA706566572 | SOS2 | c.969+41T>A (n.969+41T>A) c.83+41T>A c.789+41T>A (n.789+41T>A) c.930+41T>A (n.930+41T>A) n.954-3256A>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180531_50180532insAA | CA2136084405 | SOS2 | c.969+41_969+42insTT (n.969+41_969+42insTT) c.83+41_83+42insTT c.789+41_789+42insTT (n.789+41_789+42insTT) c.930+41_930+42insTT (n.930+41_930+42insTT) n.954-3256_954-3255insAA | dbSNP |
14 | g.50180531dup | CA2136084404 | SOS2 | c.969+41dup (n.969+41dup) c.83+41dup c.789+41dup (n.789+41dup) c.930+41dup (n.930+41dup) n.954-3256dup | dbSNP |
14 | g.50180531_50180532delinsAT | CA2136084406 | SOS2 | c.969+40_969+41delinsAT (n.969+40_969+41delinsAT) c.83+40_83+41delinsAT c.789+40_789+41delinsAT (n.789+40_789+41delinsAT) c.930+40_930+41delinsAT (n.930+40_930+41delinsAT) n.954-3256_954-3255delinsAT | |
14 | g.50180531_50180533delinsATT | CA2136084409 | SOS2 | c.969+39_969+41delinsAAT (n.969+39_969+41delinsAAT) c.83+39_83+41delinsAAT c.789+39_789+41delinsAAT (n.789+39_789+41delinsAAT) c.930+39_930+41delinsAAT (n.930+39_930+41delinsAAT) n.954-3256_954-3254delinsATT | |
14 | g.50180532_50180535del | CA260706292 | SOS2 | c.969+38_969+41del (n.969+38_969+41del) c.83+38_83+41del c.789+38_789+41del (n.789+38_789+41del) c.930+38_930+41del (n.930+38_930+41del) n.954-3255_954-3252del | dbSNP gnomAD v4 |
14 | g.50180532T>A | CA260706331 | SOS2 | c.969+40A>T (n.969+40A>T) c.83+40A>T c.789+40A>T (n.789+40A>T) c.930+40A>T (n.930+40A>T) n.954-3255T>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180532T>C | CA2624771970 | SOS2 | c.969+40A>G (n.969+40A>G) c.83+40A>G c.789+40A>G (n.789+40A>G) c.930+40A>G (n.930+40A>G) n.954-3255T>C | gnomAD v4 |
14 | g.50180532T>G | CA2624771968 | SOS2 | c.969+40A>C (n.969+40A>C) c.83+40A>C c.789+40A>C (n.789+40A>C) c.930+40A>C (n.930+40A>C) n.954-3255T>G | gnomAD v4 |
14 | g.50180532T= | CA2136084429 | SOS2 | c.969+40A= (n.969+40A=) c.83+40A= c.789+40A= (n.789+40A=) c.930+40A= (n.930+40A=) n.954-3255T= | |
14 | g.50180532_50180533del | CA260706336 | SOS2 | c.969+39_969+40del (n.969+39_969+40del) c.83+39_83+40del c.789+39_789+40del (n.789+39_789+40del) c.930+39_930+40del (n.930+39_930+40del) n.954-3255_954-3254del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533delinsTT | CA2695201965 | SOS2 | c.969+39_969+40delinsAA (n.969+39_969+40delinsAA) c.83+39_83+40delinsAA c.789+39_789+40delinsAA (n.789+39_789+40delinsAA) c.930+39_930+40delinsAA (n.930+39_930+40delinsAA) n.954-3255_954-3254delinsTT | |
14 | g.50180533dup | CA7177383 | SOS2 | c.969+40dup (n.969+40dup) c.83+40dup c.789+40dup (n.789+40dup) c.930+40dup (n.930+40dup) n.954-3254dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180532_50180533dup | CA260706322 | SOS2 | c.969+39_969+40dup (n.969+39_969+40dup) c.83+39_83+40dup c.789+39_789+40dup (n.789+39_789+40dup) c.930+39_930+40dup (n.930+39_930+40dup) n.954-3255_954-3254dup | |
14 | g.50180533del | CA7177382 | SOS2 | c.969+40del (n.969+40del) c.83+40del c.789+40del (n.789+40del) c.930+40del (n.930+40del) n.954-3254del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180532_50180534delinsTTA | CA2136084424 | SOS2 | c.969+38_969+40delinsTAA (n.969+38_969+40delinsTAA) c.83+38_83+40delinsTAA c.789+38_789+40delinsTAA (n.789+38_789+40delinsTAA) c.930+38_930+40delinsTAA (n.930+38_930+40delinsTAA) n.954-3255_954-3253delinsTTA | |
14 | g.50180532_50180535delinsTTAA | CA2136084419 | SOS2 | c.969+37_969+40delinsTTAA (n.969+37_969+40delinsTTAA) c.83+37_83+40delinsTTAA c.789+37_789+40delinsTTAA (n.789+37_789+40delinsTTAA) c.930+37_930+40delinsTTAA (n.930+37_930+40delinsTTAA) n.954-3255_954-3252delinsTTAA | |
14 | g.50180532_50180536delinsTTAAA | CA2136084418 | SOS2 | c.969+36_969+40delinsTTTAA (n.969+36_969+40delinsTTTAA) c.83+36_83+40delinsTTTAA c.789+36_789+40delinsTTTAA (n.789+36_789+40delinsTTTAA) c.930+36_930+40delinsTTTAA (n.930+36_930+40delinsTTTAA) n.954-3255_954-3251delinsTTAAA | |
14 | g.50180532_50180537delinsTTAAAA | CA2136084426 | SOS2 | c.969+35_969+40delinsTTTTAA (n.969+35_969+40delinsTTTTAA) c.83+35_83+40delinsTTTTAA c.789+35_789+40delinsTTTTAA (n.789+35_789+40delinsTTTTAA) c.930+35_930+40delinsTTTTAA (n.930+35_930+40delinsTTTTAA) n.954-3255_954-3250delinsTTAAAA | |
14 | g.50180532_50180539delinsTTAAAAAA | CA2136084431 | SOS2 | c.969+33_969+40delinsTTTTTTAA (n.969+33_969+40delinsTTTTTTAA) c.83+33_83+40delinsTTTTTTAA c.789+33_789+40delinsTTTTTTAA (n.789+33_789+40delinsTTTTTTAA) c.930+33_930+40delinsTTTTTTAA (n.930+33_930+40delinsTTTTTTAA) n.954-3255_954-3248delinsTTAAAAAA | |
14 | g.50180532_50180540delinsTTAAAAAAA | CA2136084428 | SOS2 | c.969+32_969+40delinsTTTTTTTAA (n.969+32_969+40delinsTTTTTTTAA) c.83+32_83+40delinsTTTTTTTAA c.789+32_789+40delinsTTTTTTTAA (n.789+32_789+40delinsTTTTTTTAA) c.930+32_930+40delinsTTTTTTTAA (n.930+32_930+40delinsTTTTTTTAA) n.954-3255_954-3247delinsTTAAAAAAA | |
14 | g.50180532_50180542delinsTTAAAAAAAAA | CA2136084421 | SOS2 | c.969+30_969+40delinsTTTTTTTTTAA (n.969+30_969+40delinsTTTTTTTTTAA) c.83+30_83+40delinsTTTTTTTTTAA c.789+30_789+40delinsTTTTTTTTTAA (n.789+30_789+40delinsTTTTTTTTTAA) c.930+30_930+40delinsTTTTTTTTTAA (n.930+30_930+40delinsTTTTTTTTTAA) n.954-3255_954-3245delinsTTAAAAAAAAA | |
14 | g.50180532_50180543delinsTTAAAAAAAAAA | CA2136084422 | SOS2 | c.969+29_969+40delinsTTTTTTTTTTAA (n.969+29_969+40delinsTTTTTTTTTTAA) c.83+29_83+40delinsTTTTTTTTTTAA c.789+29_789+40delinsTTTTTTTTTTAA (n.789+29_789+40delinsTTTTTTTTTTAA) c.930+29_930+40delinsTTTTTTTTTTAA (n.930+29_930+40delinsTTTTTTTTTTAA) n.954-3255_954-3244delinsTTAAAAAAAAAA | |
14 | g.50180532_50180533insA | CA7177388 | SOS2 | c.969+39_969+40insT (n.969+39_969+40insT) c.83+39_83+40insT c.789+39_789+40insT (n.789+39_789+40insT) c.930+39_930+40insT (n.930+39_930+40insT) n.954-3255_954-3254insA | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insC | CA2624772012 | SOS2 | c.969+39_969+40insG (n.969+39_969+40insG) c.83+39_83+40insG c.789+39_789+40insG (n.789+39_789+40insG) c.930+39_930+40insG (n.930+39_930+40insG) n.954-3255_954-3254insC | gnomAD v4 |
14 | g.50180532_50180533insAA | CA7177389 | SOS2 | c.969+39_969+40insTT (n.969+39_969+40insTT) c.83+39_83+40insTT c.789+39_789+40insTT (n.789+39_789+40insTT) c.930+39_930+40insTT (n.930+39_930+40insTT) n.954-3255_954-3254insAA | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAA | CA7177387 | SOS2 | c.969+39_969+40insTTT (n.969+39_969+40insTTT) c.83+39_83+40insTTT c.789+39_789+40insTTT (n.789+39_789+40insTTT) c.930+39_930+40insTTT (n.930+39_930+40insTTT) n.954-3255_954-3254insAAA | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insGAA | CA2624772015 | SOS2 | c.969+39_969+40insTTC (n.969+39_969+40insTTC) c.83+39_83+40insTTC c.789+39_789+40insTTC (n.789+39_789+40insTTC) c.930+39_930+40insTTC (n.930+39_930+40insTTC) n.954-3255_954-3254insGAA | gnomAD v4 |
14 | g.50180532_50180533insAAAA | CA486169155 | SOS2 | c.969+39_969+40insTTTT (n.969+39_969+40insTTTT) c.83+39_83+40insTTTT c.789+39_789+40insTTTT (n.789+39_789+40insTTTT) c.930+39_930+40insTTTT (n.930+39_930+40insTTTT) n.954-3255_954-3254insAAAA | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAA | CA963008799 | SOS2 | c.969+39_969+40insTTTTT (n.969+39_969+40insTTTTT) c.83+39_83+40insTTTTT c.789+39_789+40insTTTTT (n.789+39_789+40insTTTTT) c.930+39_930+40insTTTTT (n.930+39_930+40insTTTTT) n.954-3255_954-3254insAAAAA | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAA | CA963008802 | SOS2 | c.969+39_969+40insTTTTTT (n.969+39_969+40insTTTTTT) c.83+39_83+40insTTTTTT c.789+39_789+40insTTTTTT (n.789+39_789+40insTTTTTT) c.930+39_930+40insTTTTTT (n.930+39_930+40insTTTTTT) n.954-3255_954-3254insAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAA | CA963008801 | SOS2 | c.969+39_969+40insTTTTTTT (n.969+39_969+40insTTTTTTT) c.83+39_83+40insTTTTTTT c.789+39_789+40insTTTTTTT (n.789+39_789+40insTTTTTTT) c.930+39_930+40insTTTTTTT (n.930+39_930+40insTTTTTTT) n.954-3255_954-3254insAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAA | CA2538861968 | SOS2 | c.969+39_969+40insTTTTTTTT (n.969+39_969+40insTTTTTTTT) c.83+39_83+40insTTTTTTTT c.789+39_789+40insTTTTTTTT (n.789+39_789+40insTTTTTTTT) c.930+39_930+40insTTTTTTTT (n.930+39_930+40insTTTTTTTT) n.954-3255_954-3254insAAAAAAAA | gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAA | CA963008806 | SOS2 | c.969+39_969+40insTTTTTTTTT (n.969+39_969+40insTTTTTTTTT) c.83+39_83+40insTTTTTTTTT c.789+39_789+40insTTTTTTTTT (n.789+39_789+40insTTTTTTTTT) c.930+39_930+40insTTTTTTTTT (n.930+39_930+40insTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAA | CA2624772034 | SOS2 | c.969+39_969+40insTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTT c.789+39_789+40insTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAA | gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAA | CA2624772036 | SOS2 | c.969+39_969+40insTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAA | gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAA | CA963008808 | SOS2 | c.969+39_969+40insTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAA | CA963008804 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAA | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAA | CA2624772024 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAA | gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAA | CA2624772025 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAA | gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAAAAA | CA963008790 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAAAAAAA | CA2624772008 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAAAAAAAAA | CA963008795 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAAAAAAAAAAAA | CA963008789 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2624772010 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2592840720 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180532_50180533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA963008787 | SOS2 | c.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.969+39_969+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.83+39_83+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT c.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.789+39_789+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.930+39_930+40insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) n.954-3255_954-3254insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180533T>A | CA7177390 | SOS2 | c.969+39A>T (n.969+39A>T) c.83+39A>T c.789+39A>T (n.789+39A>T) c.930+39A>T (n.930+39A>T) n.954-3254T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
14 | g.50180533T= | CA2136084448 | SOS2 | c.969+39A= (n.969+39A=) c.83+39A= c.789+39A= (n.789+39A=) c.930+39A= (n.930+39A=) n.954-3254T= | |
14 | g.50180533_50180534del | CA7177386 | SOS2 | c.969+38_969+39del (n.969+38_969+39del) c.83+38_83+39del c.789+38_789+39del (n.789+38_789+39del) c.930+38_930+39del (n.930+38_930+39del) n.954-3254_954-3253del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180533_50180535del | CA7177385 | SOS2 | c.969+37_969+39del (n.969+37_969+39del) c.83+37_83+39del c.789+37_789+39del (n.789+37_789+39del) c.930+37_930+39del (n.930+37_930+39del) n.954-3254_954-3252del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180533_50180536del | CA7177384 | SOS2 | c.969+36_969+39del (n.969+36_969+39del) c.83+36_83+39del c.789+36_789+39del (n.789+36_789+39del) c.930+36_930+39del (n.930+36_930+39del) n.954-3254_954-3251del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180533_50180537del | CA963008779 | SOS2 | c.969+35_969+39del (n.969+35_969+39del) c.83+35_83+39del c.789+35_789+39del (n.789+35_789+39del) c.930+35_930+39del (n.930+35_930+39del) n.954-3254_954-3250del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180533_50180538del | CA963008778 | SOS2 | c.969+34_969+39del (n.969+34_969+39del) c.83+34_83+39del c.789+34_789+39del (n.789+34_789+39del) c.930+34_930+39del (n.930+34_930+39del) n.954-3254_954-3249del | gnomAD v3 gnomAD v4 |
14 | g.50180533_50180539del | CA260706369 | SOS2 | c.969+33_969+39del (n.969+33_969+39del) c.83+33_83+39del c.789+33_789+39del (n.789+33_789+39del) c.930+33_930+39del (n.930+33_930+39del) n.954-3254_954-3248del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180533_50180540del | CA963008776 | SOS2 | c.969+32_969+39del (n.969+32_969+39del) c.83+32_83+39del c.789+32_789+39del (n.789+32_789+39del) c.930+32_930+39del (n.930+32_930+39del) n.954-3254_954-3247del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180533_50180541del | CA2624772020 | SOS2 | c.969+31_969+39del (n.969+31_969+39del) c.83+31_83+39del c.789+31_789+39del (n.789+31_789+39del) c.930+31_930+39del (n.930+31_930+39del) n.954-3254_954-3246del | gnomAD v4 |
14 | g.50180533_50180542del | CA706566615 | SOS2 | c.969+30_969+39del (n.969+30_969+39del) c.83+30_83+39del c.789+30_789+39del (n.789+30_789+39del) c.930+30_930+39del (n.930+30_930+39del) n.954-3254_954-3245del | dbSNP gnomAD v4 |
14 | g.50180533_50180543del | CA706566614 | SOS2 | c.969+29_969+39del (n.969+29_969+39del) c.83+29_83+39del c.789+29_789+39del (n.789+29_789+39del) c.930+29_930+39del (n.930+29_930+39del) n.954-3254_954-3244del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180533_50180544del | CA2624772022 | SOS2 | c.969+28_969+39del (n.969+28_969+39del) c.83+28_83+39del c.789+28_789+39del (n.789+28_789+39del) c.930+28_930+39del (n.930+28_930+39del) n.954-3254_954-3243del | gnomAD v4 |
14 | g.50180533_50180544delinsTAAAAAAAAAAA | CA2136084446 | SOS2 | c.969+28_969+39delinsTTTTTTTTTTTA (n.969+28_969+39delinsTTTTTTTTTTTA) c.83+28_83+39delinsTTTTTTTTTTTA c.789+28_789+39delinsTTTTTTTTTTTA (n.789+28_789+39delinsTTTTTTTTTTTA) c.930+28_930+39delinsTTTTTTTTTTTA (n.930+28_930+39delinsTTTTTTTTTTTA) n.954-3254_954-3243delinsTAAAAAAAAAAA | |
14 | g.50180533_50180534insTA | CA260706420 | SOS2 | c.969+38_969+39insTA (n.969+38_969+39insTA) c.83+38_83+39insTA c.789+38_789+39insTA (n.789+38_789+39insTA) c.930+38_930+39insTA (n.930+38_930+39insTA) n.954-3254_954-3253insTA | gnomAD v4 |
14 | g.50180533_50180534insTAA | CA2624772063 | SOS2 | c.969+38_969+39insTTA (n.969+38_969+39insTTA) c.83+38_83+39insTTA c.789+38_789+39insTTA (n.789+38_789+39insTTA) c.930+38_930+39insTTA (n.930+38_930+39insTTA) n.954-3254_954-3253insTAA | gnomAD v4 |
14 | g.50180533_50180534insTTTAAA | CA963008830 | SOS2 | c.969+38_969+39insTTTAAA (n.969+38_969+39insTTTAAA) c.83+38_83+39insTTTAAA c.789+38_789+39insTTTAAA (n.789+38_789+39insTTTAAA) c.930+38_930+39insTTTAAA (n.930+38_930+39insTTTAAA) n.954-3254_954-3253insTTTAAA | gnomAD v3 gnomAD v4 |
14 | g.50180533_50180534insTAAAAAAAA | CA963008834 | SOS2 | c.969+38_969+39insTTTTTTTTA (n.969+38_969+39insTTTTTTTTA) c.83+38_83+39insTTTTTTTTA c.789+38_789+39insTTTTTTTTA (n.789+38_789+39insTTTTTTTTA) c.930+38_930+39insTTTTTTTTA (n.930+38_930+39insTTTTTTTTA) n.954-3254_954-3253insTAAAAAAAA | gnomAD v3 gnomAD v4 |
14 | g.50180534A= | CA2136084460 | SOS2 | c.969+38T= (n.969+38T=) c.83+38T= c.789+38T= (n.789+38T=) c.930+38T= (n.930+38T=) n.954-3253A= | |
14 | g.50180534A>T | CA260706445 | SOS2 | c.969+38T>A (n.969+38T>A) c.83+38T>A c.789+38T>A (n.789+38T>A) c.930+38T>A (n.930+38T>A) n.954-3253A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180553dup | CA7177394 | SOS2 | c.969+38dup (n.969+38dup) c.83+38dup c.789+38dup (n.789+38dup) c.930+38dup (n.930+38dup) n.954-3234dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180552_50180553dup | CA7177395 | SOS2 | c.969+37_969+38dup (n.969+37_969+38dup) c.83+37_83+38dup c.789+37_789+38dup (n.789+37_789+38dup) c.930+37_930+38dup (n.930+37_930+38dup) n.954-3235_954-3234dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180551_50180553dup | CA613838890 | SOS2 | c.969+36_969+38dup (n.969+36_969+38dup) c.83+36_83+38dup c.789+36_789+38dup (n.789+36_789+38dup) c.930+36_930+38dup (n.930+36_930+38dup) n.954-3236_954-3234dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180550_50180553dup | CA963008838 | SOS2 | c.969+35_969+38dup (n.969+35_969+38dup) c.83+35_83+38dup c.789+35_789+38dup (n.789+35_789+38dup) c.930+35_930+38dup (n.930+35_930+38dup) n.954-3237_954-3234dup | gnomAD v3 gnomAD v4 |
14 | g.50180549_50180553dup | CA963008836 | SOS2 | c.969+34_969+38dup (n.969+34_969+38dup) c.83+34_83+38dup c.789+34_789+38dup (n.789+34_789+38dup) c.930+34_930+38dup (n.930+34_930+38dup) n.954-3238_954-3234dup | gnomAD v3 gnomAD v4 |
14 | g.50180548_50180553dup | CA919415825 | SOS2 | c.969+33_969+38dup (n.969+33_969+38dup) c.83+33_83+38dup c.789+33_789+38dup (n.789+33_789+38dup) c.930+33_930+38dup (n.930+33_930+38dup) n.954-3239_954-3234dup | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180546_50180553dup | CA963008842 | SOS2 | c.969+31_969+38dup (n.969+31_969+38dup) c.83+31_83+38dup c.789+31_789+38dup (n.789+31_789+38dup) c.930+31_930+38dup (n.930+31_930+38dup) n.954-3241_954-3234dup | gnomAD v3 gnomAD v4 |
14 | g.50180553del | CA7177393 | SOS2 | c.969+38del (n.969+38del) c.83+38del c.789+38del (n.789+38del) c.930+38del (n.930+38del) n.954-3234del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180552_50180553del | CA7177392 | SOS2 | c.969+37_969+38del (n.969+37_969+38del) c.83+37_83+38del c.789+37_789+38del (n.789+37_789+38del) c.930+37_930+38del (n.930+37_930+38del) n.954-3235_954-3234del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180551_50180553del | CA7177391 | SOS2 | c.969+36_969+38del (n.969+36_969+38del) c.83+36_83+38del c.789+36_789+38del (n.789+36_789+38del) c.930+36_930+38del (n.930+36_930+38del) n.954-3236_954-3234del | dbSNP ExAC gnomAD v3 gnomAD v4 |
14 | g.50180550_50180553del | CA2555721839 | SOS2 | c.969+35_969+38del (n.969+35_969+38del) c.83+35_83+38del c.789+35_789+38del (n.789+35_789+38del) c.930+35_930+38del (n.930+35_930+38del) n.954-3237_954-3234del | gnomAD v4 |
14 | g.50180549_50180553del | CA2624772060 | SOS2 | c.969+34_969+38del (n.969+34_969+38del) c.83+34_83+38del c.789+34_789+38del (n.789+34_789+38del) c.930+34_930+38del (n.930+34_930+38del) n.954-3238_954-3234del | gnomAD v4 |
14 | g.50180543_50180553del | CA963008823 | SOS2 | c.969+28_969+38del (n.969+28_969+38del) c.83+28_83+38del c.789+28_789+38del (n.789+28_789+38del) c.930+28_930+38del (n.930+28_930+38del) n.954-3244_954-3234del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180534_50180535insT | CA2624772074 | SOS2 | c.969+37_969+38insA (n.969+37_969+38insA) c.83+37_83+38insA c.789+37_789+38insA (n.789+37_789+38insA) c.930+37_930+38insA (n.930+37_930+38insA) n.954-3253_954-3252insT | gnomAD v4 |
14 | g.50180535A= | CA2136084465 | SOS2 | c.969+37T= (n.969+37T=) c.83+37T= c.789+37T= (n.789+37T=) c.930+37T= (n.930+37T=) n.954-3252A= | |
14 | g.50180535A>C | CA2624772073 | SOS2 | c.969+37T>G (n.969+37T>G) c.83+37T>G c.789+37T>G (n.789+37T>G) c.930+37T>G (n.930+37T>G) n.954-3252A>C | gnomAD v4 |
14 | g.50180535A>G | CA2575539799 | SOS2 | c.969+37T>C (n.969+37T>C) c.83+37T>C c.789+37T>C (n.789+37T>C) c.930+37T>C (n.930+37T>C) n.954-3252A>G | gnomAD v4 |
14 | g.50180535A>T | CA613838891 | SOS2 | c.969+37T>A (n.969+37T>A) c.83+37T>A c.789+37T>A (n.789+37T>A) c.930+37T>A (n.930+37T>A) n.954-3252A>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180536A= | CA2136084471 | SOS2 | c.969+36T= (n.969+36T=) c.83+36T= c.789+36T= (n.789+36T=) c.930+36T= (n.930+36T=) n.954-3251A= | |
14 | g.50180536A>T | CA260706461 | SOS2 | c.969+36T>A (n.969+36T>A) c.83+36T>A c.789+36T>A (n.789+36T>A) c.930+36T>A (n.930+36T>A) n.954-3251A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180537A= | CA2136084473 | SOS2 | c.969+35T= (n.969+35T=) c.83+35T= c.789+35T= (n.789+35T=) c.930+35T= (n.930+35T=) n.954-3250A= | |
14 | g.50180537A>G | CA2624772077 | SOS2 | c.969+35T>C (n.969+35T>C) c.83+35T>C c.789+35T>C (n.789+35T>C) c.930+35T>C (n.930+35T>C) n.954-3250A>G | gnomAD v4 |
14 | g.50180537A>T | CA613838892 | SOS2 | c.969+35T>A (n.969+35T>A) c.83+35T>A c.789+35T>A (n.789+35T>A) c.930+35T>A (n.930+35T>A) n.954-3250A>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180538A>T | CA2624772079 | SOS2 | c.969+34T>A (n.969+34T>A) c.83+34T>A c.789+34T>A (n.789+34T>A) c.930+34T>A (n.930+34T>A) n.954-3249A>T | gnomAD v4 |
14 | g.50180539A= | CA2136084475 | SOS2 | c.969+33T= (n.969+33T=) c.83+33T= c.789+33T= (n.789+33T=) c.930+33T= (n.930+33T=) n.954-3248A= | |
14 | g.50180539A>G | CA706566651 | SOS2 | c.969+33T>C (n.969+33T>C) c.83+33T>C c.789+33T>C (n.789+33T>C) c.930+33T>C (n.930+33T>C) n.954-3248A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180539A>T | CA613838893 | SOS2 | c.969+33T>A (n.969+33T>A) c.83+33T>A c.789+33T>A (n.789+33T>A) c.930+33T>A (n.930+33T>A) n.954-3248A>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180540A= | CA2136084477 | SOS2 | c.969+32T= (n.969+32T=) c.83+32T= c.789+32T= (n.789+32T=) c.930+32T= (n.930+32T=) n.954-3247A= | |
14 | g.50180540A>G | CA613838894 | SOS2 | c.969+32T>C (n.969+32T>C) c.83+32T>C c.789+32T>C (n.789+32T>C) c.930+32T>C (n.930+32T>C) n.954-3247A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180540A>T | CA2624772088 | SOS2 | c.969+32T>A (n.969+32T>A) c.83+32T>A c.789+32T>A (n.789+32T>A) c.930+32T>A (n.930+32T>A) n.954-3247A>T | gnomAD v4 |
14 | g.50180541A= | CA2136084480 | SOS2 | c.969+31T= (n.969+31T=) c.83+31T= c.789+31T= (n.789+31T=) c.930+31T= (n.930+31T=) n.954-3246A= | |
14 | g.50180541A>G | CA2575539801 | SOS2 | c.969+31T>C (n.969+31T>C) c.83+31T>C c.789+31T>C (n.789+31T>C) c.930+31T>C (n.930+31T>C) n.954-3246A>G | gnomAD v4 |
14 | g.50180541A>T | CA2624772090 | SOS2 | c.969+31T>A (n.969+31T>A) c.83+31T>A c.789+31T>A (n.789+31T>A) c.930+31T>A (n.930+31T>A) n.954-3246A>T | gnomAD v4 |
14 | g.50180542A>T | CA2624772092 | SOS2 | c.969+30T>A (n.969+30T>A) c.83+30T>A c.789+30T>A (n.789+30T>A) c.930+30T>A (n.930+30T>A) n.954-3245A>T | gnomAD v4 |
14 | g.50180543_50180544insCAA | CA706566658 | SOS2 | c.969+30_969+31insGTT (n.969+30_969+31insGTT) c.83+30_83+31insGTT c.789+30_789+31insGTT (n.789+30_789+31insGTT) c.930+30_930+31insGTT (n.930+30_930+31insGTT) n.954-3244_954-3243insCAA | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180543A= | CA2136084484 | SOS2 | c.969+29T= (n.969+29T=) c.83+29T= c.789+29T= (n.789+29T=) c.930+29T= (n.930+29T=) n.954-3244A= | |
14 | g.50180543A>C | CA2136084483 | SOS2 | c.969+29T>G (n.969+29T>G) c.83+29T>G c.789+29T>G (n.789+29T>G) c.930+29T>G (n.930+29T>G) n.954-3244A>C | dbSNP gnomAD v4 |
14 | g.50180543A>G | CA706566662 | SOS2 | c.969+29T>C (n.969+29T>C) c.83+29T>C c.789+29T>C (n.789+29T>C) c.930+29T>C (n.930+29T>C) n.954-3244A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180543_50180544insGA | CA2624772093 | SOS2 | c.969+29_969+30insCT (n.969+29_969+30insCT) c.83+29_83+30insCT c.789+29_789+30insCT (n.789+29_789+30insCT) c.930+29_930+30insCT (n.930+29_930+30insCT) n.954-3244_954-3243insGA | gnomAD v4 |
14 | g.50180544A= | CA2136084486 | SOS2 | c.969+28T= (n.969+28T=) c.83+28T= c.789+28T= (n.789+28T=) c.930+28T= (n.930+28T=) n.954-3243A= | |
14 | g.50180544A>C | CA7177396 | SOS2 | c.969+28T>G (n.969+28T>G) c.83+28T>G c.789+28T>G (n.789+28T>G) c.930+28T>G (n.930+28T>G) n.954-3243A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180544A>G | CA7177397 | SOS2 | c.969+28T>C (n.969+28T>C) c.83+28T>C c.789+28T>C (n.789+28T>C) c.930+28T>C (n.930+28T>C) n.954-3243A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180544A>T | CA2624772096 | SOS2 | c.969+28T>A (n.969+28T>A) c.83+28T>A c.789+28T>A (n.789+28T>A) c.930+28T>A (n.930+28T>A) n.954-3243A>T | gnomAD v4 |
14 | g.50180544_50180545insC | CA2624772104 | SOS2 | c.969+27_969+28insG (n.969+27_969+28insG) c.83+27_83+28insG c.789+27_789+28insG (n.789+27_789+28insG) c.930+27_930+28insG (n.930+27_930+28insG) n.954-3243_954-3242insC | gnomAD v4 |
14 | g.50180545A= | CA2136084490 | SOS2 | c.969+27T= (n.969+27T=) c.83+27T= c.789+27T= (n.789+27T=) c.930+27T= (n.930+27T=) n.954-3242A= | |
14 | g.50180545A>C | CA7177398 | SOS2 | c.969+27T>G (n.969+27T>G) c.83+27T>G c.789+27T>G (n.789+27T>G) c.930+27T>G (n.930+27T>G) n.954-3242A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180545A>G | CA2624772102 | SOS2 | c.969+27T>C (n.969+27T>C) c.83+27T>C c.789+27T>C (n.789+27T>C) c.930+27T>C (n.930+27T>C) n.954-3242A>G | gnomAD v4 |
14 | g.50180545_50180546insC | CA7177399 | SOS2 | c.969+26_969+27insG (n.969+26_969+27insG) c.83+26_83+27insG c.789+26_789+27insG (n.789+26_789+27insG) c.930+26_930+27insG (n.930+26_930+27insG) n.954-3242_954-3241insC | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180546A= | CA2136084505 | SOS2 | c.969+26T= (n.969+26T=) c.83+26T= c.789+26T= (n.789+26T=) c.930+26T= (n.930+26T=) n.954-3241A= | |
14 | g.50180546A>C | CA7177401 | SOS2 | c.969+26T>G (n.969+26T>G) c.83+26T>G c.789+26T>G (n.789+26T>G) c.930+26T>G (n.930+26T>G) n.954-3241A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180546A>G | CA613838896 | SOS2 | c.969+26T>C (n.969+26T>C) c.83+26T>C c.789+26T>C (n.789+26T>C) c.930+26T>C (n.930+26T>C) n.954-3241A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180546_50180547insCA | CA613838895 | SOS2 | c.969+26_969+27insGT (n.969+26_969+27insGT) c.83+26_83+27insGT c.789+26_789+27insGT (n.789+26_789+27insGT) c.930+26_930+27insGT (n.930+26_930+27insGT) n.954-3241_954-3240insCA | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180547_50180548insCAA | CA2624772109 | SOS2 | c.969+26_969+27insGTT (n.969+26_969+27insGTT) c.83+26_83+27insGTT c.789+26_789+27insGTT (n.789+26_789+27insGTT) c.930+26_930+27insGTT (n.930+26_930+27insGTT) n.954-3240_954-3239insCAA | gnomAD v4 |
14 | g.50180546_50180554dup | CA7177400 | SOS2 | c.969+18_969+26dup (n.969+18_969+26dup) c.83+18_83+26dup c.789+18_789+26dup (n.789+18_789+26dup) c.930+18_930+26dup (n.930+18_930+26dup) n.954-3241_954-3233dup | dbSNP ExAC |
14 | g.50180546_50180547insC | CA2624772120 | SOS2 | c.969+25_969+26insG (n.969+25_969+26insG) c.83+25_83+26insG c.789+25_789+26insG (n.789+25_789+26insG) c.930+25_930+26insG (n.930+25_930+26insG) n.954-3241_954-3240insC | gnomAD v4 |
14 | g.50180547A= | CA2136084511 | SOS2 | c.969+25T= (n.969+25T=) c.83+25T= c.789+25T= (n.789+25T=) c.930+25T= (n.930+25T=) n.954-3240A= | |
14 | g.50180547A>C | CA7177402 | SOS2 | c.969+25T>G (n.969+25T>G) c.83+25T>G c.789+25T>G (n.789+25T>G) c.930+25T>G (n.930+25T>G) n.954-3240A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180547A>G | CA2624772119 | SOS2 | c.969+25T>C (n.969+25T>C) c.83+25T>C c.789+25T>C (n.789+25T>C) c.930+25T>C (n.930+25T>C) n.954-3240A>G | gnomAD v4 |
14 | g.50180547A>T | CA2624772117 | SOS2 | c.969+25T>A (n.969+25T>A) c.83+25T>A c.789+25T>A (n.789+25T>A) c.930+25T>A (n.930+25T>A) n.954-3240A>T | gnomAD v4 |
14 | g.50180547_50180548insG | CA2624772125 | SOS2 | c.969+24_969+25insC (n.969+24_969+25insC) c.83+24_83+25insC c.789+24_789+25insC (n.789+24_789+25insC) c.930+24_930+25insC (n.930+24_930+25insC) n.954-3240_954-3239insG | gnomAD v4 |
14 | g.50180548A= | CA2136084514 | SOS2 | c.969+24T= (n.969+24T=) c.83+24T= c.789+24T= (n.789+24T=) c.930+24T= (n.930+24T=) n.954-3239A= | |
14 | g.50180548A>C | CA613838897 | SOS2 | c.969+24T>G (n.969+24T>G) c.83+24T>G c.789+24T>G (n.789+24T>G) c.930+24T>G (n.930+24T>G) n.954-3239A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180548A>G | CA7177403 | SOS2 | c.969+24T>C (n.969+24T>C) c.83+24T>C c.789+24T>C (n.789+24T>C) c.930+24T>C (n.930+24T>C) n.954-3239A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180548A>T | CA2624772129 | SOS2 | c.969+24T>A (n.969+24T>A) c.83+24T>A c.789+24T>A (n.789+24T>A) c.930+24T>A (n.930+24T>A) n.954-3239A>T | gnomAD v4 |
14 | g.50180549_50180550insCAA | CA2624772126 | SOS2 | c.969+24_969+25insGTT (n.969+24_969+25insGTT) c.83+24_83+25insGTT c.789+24_789+25insGTT (n.789+24_789+25insGTT) c.930+24_930+25insGTT (n.930+24_930+25insGTT) n.954-3238_954-3237insCAA | gnomAD v4 |
14 | g.50180548_50180549insC | CA2624772142 | SOS2 | c.969+23_969+24insG (n.969+23_969+24insG) c.83+23_83+24insG c.789+23_789+24insG (n.789+23_789+24insG) c.930+23_930+24insG (n.930+23_930+24insG) n.954-3239_954-3238insC | gnomAD v4 |
14 | g.50180548_50180549insG | CA2624772138 | SOS2 | c.969+23_969+24insC (n.969+23_969+24insC) c.83+23_83+24insC c.789+23_789+24insC (n.789+23_789+24insC) c.930+23_930+24insC (n.930+23_930+24insC) n.954-3239_954-3238insG | gnomAD v4 |
14 | g.50180549A= | CA2136084516 | SOS2 | c.969+23T= (n.969+23T=) c.83+23T= c.789+23T= (n.789+23T=) c.930+23T= (n.930+23T=) n.954-3238A= | |
14 | g.50180549A>C | CA613838898 | SOS2 | c.969+23T>G (n.969+23T>G) c.83+23T>G c.789+23T>G (n.789+23T>G) c.930+23T>G (n.930+23T>G) n.954-3238A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180549A>G | CA2624772135 | SOS2 | c.969+23T>C (n.969+23T>C) c.83+23T>C c.789+23T>C (n.789+23T>C) c.930+23T>C (n.930+23T>C) n.954-3238A>G | gnomAD v4 |
14 | g.50180549_50180550insGA | CA2624772140 | SOS2 | c.969+23_969+24insCT (n.969+23_969+24insCT) c.83+23_83+24insCT c.789+23_789+24insCT (n.789+23_789+24insCT) c.930+23_930+24insCT (n.930+23_930+24insCT) n.954-3238_954-3237insGA | gnomAD v4 |
14 | g.50180551_50180552insCCTTAAATTTAAGTTTAAA | CA2624772141 | SOS2 | c.969+23_969+24insAAACTTAAATTTAAGGTTT (n.969+23_969+24insAAACTTAAATTTAAGGTTT) c.83+23_83+24insAAACTTAAATTTAAGGTTT c.789+23_789+24insAAACTTAAATTTAAGGTTT (n.789+23_789+24insAAACTTAAATTTAAGGTTT) c.930+23_930+24insAAACTTAAATTTAAGGTTT (n.930+23_930+24insAAACTTAAATTTAAGGTTT) n.954-3236_954-3235insCCTTAAATTTAAGTTTAAA | gnomAD v4 |
14 | g.50180549_50180550insC | CA613838899 | SOS2 | c.969+22_969+23insG (n.969+22_969+23insG) c.83+22_83+23insG c.789+22_789+23insG (n.789+22_789+23insG) c.930+22_930+23insG (n.930+22_930+23insG) n.954-3238_954-3237insC | gnomAD v2 |
14 | g.50180550A= | CA2136084519 | SOS2 | c.969+22T= (n.969+22T=) c.83+22T= c.789+22T= (n.789+22T=) c.930+22T= (n.930+22T=) n.954-3237A= | |
14 | g.50180550A>C | CA7177404 | SOS2 | c.969+22T>G (n.969+22T>G) c.83+22T>G c.789+22T>G (n.789+22T>G) c.930+22T>G (n.930+22T>G) n.954-3237A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180550A>T | CA2624772144 | SOS2 | c.969+22T>A (n.969+22T>A) c.83+22T>A c.789+22T>A (n.789+22T>A) c.930+22T>A (n.930+22T>A) n.954-3237A>T | gnomAD v4 |
14 | g.50180552_50180553insCCTTCAATTTAAA | CA2624772143 | SOS2 | c.969+22_969+23insAAATTGAAGGTTT (n.969+22_969+23insAAATTGAAGGTTT) c.83+22_83+23insAAATTGAAGGTTT c.789+22_789+23insAAATTGAAGGTTT (n.789+22_789+23insAAATTGAAGGTTT) c.930+22_930+23insAAATTGAAGGTTT (n.930+22_930+23insAAATTGAAGGTTT) n.954-3235_954-3234insCCTTCAATTTAAA | gnomAD v4 |
14 | g.50180550_50180551insC | CA613838900 | SOS2 | c.969+21_969+22insG (n.969+21_969+22insG) c.83+21_83+22insG c.789+21_789+22insG (n.789+21_789+22insG) c.930+21_930+22insG (n.930+21_930+22insG) n.954-3237_954-3236insC | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180551A= | CA2136084524 | SOS2 | c.969+21T= (n.969+21T=) c.83+21T= c.789+21T= (n.789+21T=) c.930+21T= (n.930+21T=) n.954-3236A= | |
14 | g.50180551A>C | CA613838901 | SOS2 | c.969+21T>G (n.969+21T>G) c.83+21T>G c.789+21T>G (n.789+21T>G) c.930+21T>G (n.930+21T>G) n.954-3236A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180551A>G | CA2624772148 | SOS2 | c.969+21T>C (n.969+21T>C) c.83+21T>C c.789+21T>C (n.789+21T>C) c.930+21T>C (n.930+21T>C) n.954-3236A>G | gnomAD v4 |
14 | g.50180551A>T | CA2624772146 | SOS2 | c.969+21T>A (n.969+21T>A) c.83+21T>A c.789+21T>A (n.789+21T>A) c.930+21T>A (n.930+21T>A) n.954-3236A>T | gnomAD v4 |
14 | g.50180551_50180552insCA | CA2624772149 | SOS2 | c.969+21_969+22insGT (n.969+21_969+22insGT) c.83+21_83+22insGT c.789+21_789+22insGT (n.789+21_789+22insGT) c.930+21_930+22insGT (n.930+21_930+22insGT) n.954-3236_954-3235insCA | gnomAD v4 |
14 | g.50180552_50180553insCATAA | CA2624772151 | SOS2 | c.969+21_969+22insATGTT (n.969+21_969+22insATGTT) c.83+21_83+22insATGTT c.789+21_789+22insATGTT (n.789+21_789+22insATGTT) c.930+21_930+22insATGTT (n.930+21_930+22insATGTT) n.954-3235_954-3234insCATAA | gnomAD v4 |
14 | g.50180552A= | CA2136084527 | SOS2 | c.969+20T= (n.969+20T=) c.83+20T= c.789+20T= (n.789+20T=) c.930+20T= (n.930+20T=) n.954-3235A= | |
14 | g.50180552A>C | CA7177407 | SOS2 | c.969+20T>G (n.969+20T>G) c.83+20T>G c.789+20T>G (n.789+20T>G) c.930+20T>G (n.930+20T>G) n.954-3235A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180552A>T | CA2624772174 | SOS2 | c.969+20T>A (n.969+20T>A) c.83+20T>A c.789+20T>A (n.789+20T>A) c.930+20T>A (n.930+20T>A) n.954-3235A>T | gnomAD v4 |
14 | g.50180552_50180553insCCTTCAATTTA | CA2624772163 | SOS2 | c.969+20_969+21insAAATTGAAGGT (n.969+20_969+21insAAATTGAAGGT) c.83+20_83+21insAAATTGAAGGT c.789+20_789+21insAAATTGAAGGT (n.789+20_789+21insAAATTGAAGGT) c.930+20_930+21insAAATTGAAGGT (n.930+20_930+21insAAATTGAAGGT) n.954-3235_954-3234insCCTTCAATTTA | gnomAD v4 |
14 | g.50180552_50180554del | CA2624772165 | SOS2 | c.969+18_969+20del (n.969+18_969+20del) c.83+18_83+20del c.789+18_789+20del (n.789+18_789+20del) c.930+18_930+20del (n.930+18_930+20del) n.954-3235_954-3233del | gnomAD v4 |
14 | g.50180552_50180554delinsAAC | CA2136084530 | SOS2 | c.969+18_969+20delinsGTT (n.969+18_969+20delinsGTT) c.83+18_83+20delinsGTT c.789+18_789+20delinsGTT (n.789+18_789+20delinsGTT) c.930+18_930+20delinsGTT (n.930+18_930+20delinsGTT) n.954-3235_954-3233delinsAAC | |
14 | g.50180552_50180553insG | CA2624772193 | SOS2 | c.969+19_969+20insC (n.969+19_969+20insC) c.83+19_83+20insC c.789+19_789+20insC (n.789+19_789+20insC) c.930+19_930+20insC (n.930+19_930+20insC) n.954-3235_954-3234insG | gnomAD v4 |
14 | g.50180553A= | CA2136084536 | SOS2 | c.969+19T= (n.969+19T=) c.83+19T= c.789+19T= (n.789+19T=) c.930+19T= (n.930+19T=) n.954-3234A= | |
14 | g.50180553A>C | CA706566687 | SOS2 | c.969+19T>G (n.969+19T>G) c.83+19T>G c.789+19T>G (n.789+19T>G) c.930+19T>G (n.930+19T>G) n.954-3234A>C | ClinVar dbSNP gnomAD v4 |
14 | g.50180553A>G | CA706566688 | SOS2 | c.969+19T>C (n.969+19T>C) c.83+19T>C c.789+19T>C (n.789+19T>C) c.930+19T>C (n.930+19T>C) n.954-3234A>G | dbSNP gnomAD v4 |
14 | g.50180553_50180554insAACA | CA2624772194 | SOS2 | c.969+19_969+20insGTTT (n.969+19_969+20insGTTT) c.83+19_83+20insGTTT c.789+19_789+20insGTTT (n.789+19_789+20insGTTT) c.930+19_930+20insGTTT (n.930+19_930+20insGTTT) n.954-3234_954-3233insAACA | gnomAD v4 |
14 | g.50180553_50180554insAAACA | CA2624772185 | SOS2 | c.969+19_969+20insGTTTT (n.969+19_969+20insGTTTT) c.83+19_83+20insGTTTT c.789+19_789+20insGTTTT (n.789+19_789+20insGTTTT) c.930+19_930+20insGTTTT (n.930+19_930+20insGTTTT) n.954-3234_954-3233insAAACA | gnomAD v4 |
14 | g.50180553_50180554del | CA7177405 | SOS2 | c.969+18_969+19del (n.969+18_969+19del) c.83+18_83+19del c.789+18_789+19del (n.789+18_789+19del) c.930+18_930+19del (n.930+18_930+19del) n.954-3234_954-3233del | dbSNP ExAC gnomAD v4 |
14 | g.50180553_50180554delinsAC | CA2136084535 | SOS2 | c.969+18_969+19delinsGT (n.969+18_969+19delinsGT) c.83+18_83+19delinsGT c.789+18_789+19delinsGT (n.789+18_789+19delinsGT) c.930+18_930+19delinsGT (n.930+18_930+19delinsGT) n.954-3234_954-3233delinsAC | |
14 | g.50180553_50180554dup | CA7177406 | SOS2 | c.969+18_969+19dup (n.969+18_969+19dup) c.83+18_83+19dup c.789+18_789+19dup (n.789+18_789+19dup) c.930+18_930+19dup (n.930+18_930+19dup) n.954-3234_954-3233dup | dbSNP ExAC |
14 | g.50180553_50180555delinsACC | CA2136084534 | SOS2 | c.969+17_969+19delinsGGT (n.969+17_969+19delinsGGT) c.83+17_83+19delinsGGT c.789+17_789+19delinsGGT (n.789+17_789+19delinsGGT) c.930+17_930+19delinsGGT (n.930+17_930+19delinsGGT) n.954-3234_954-3232delinsACC | |
14 | g.50180553_50180558delinsACCTTC | CA2136084538 | SOS2 | c.969+14_969+19delinsGAAGGT (n.969+14_969+19delinsGAAGGT) c.83+14_83+19delinsGAAGGT c.789+14_789+19delinsGAAGGT (n.789+14_789+19delinsGAAGGT) c.930+14_930+19delinsGAAGGT (n.930+14_930+19delinsGAAGGT) n.954-3234_954-3229delinsACCTTC | |
14 | g.50180554_50180559del | CA613838902 | SOS2 | c.969+14_969+19del (n.969+14_969+19del) c.83+14_83+19del c.789+14_789+19del (n.789+14_789+19del) c.930+14_930+19del (n.930+14_930+19del) n.954-3233_954-3228del | gnomAD v2 gnomAD v4 |
14 | g.50180553_50180554insG | CA963008880 | SOS2 | c.969+18_969+19insC (n.969+18_969+19insC) c.83+18_83+19insC c.789+18_789+19insC (n.789+18_789+19insC) c.930+18_930+19insC (n.930+18_930+19insC) n.954-3234_954-3233insG | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180554C>A | CA613838905 | SOS2 | c.969+18G>T (n.969+18G>T) c.83+18G>T c.789+18G>T (n.789+18G>T) c.930+18G>T (n.930+18G>T) n.954-3233C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180554C= | CA2136084543 | SOS2 | c.969+18G= (n.969+18G=) c.83+18G= c.789+18G= (n.789+18G=) c.930+18G= (n.930+18G=) n.954-3233C= | |
14 | g.50180554C>G | CA2624772197 | SOS2 | c.969+18G>C (n.969+18G>C) c.83+18G>C c.789+18G>C (n.789+18G>C) c.930+18G>C (n.930+18G>C) n.954-3233C>G | gnomAD v4 |
14 | g.50180554C>T | CA2624772196 | SOS2 | c.969+18G>A (n.969+18G>A) c.83+18G>A c.789+18G>A (n.789+18G>A) c.930+18G>A (n.930+18G>A) n.954-3233C>T | gnomAD v4 |
14 | g.50180554_50180555del | CA963008883 | SOS2 | c.969+17_969+18del (n.969+17_969+18del) c.83+17_83+18del c.789+17_789+18del (n.789+17_789+18del) c.930+17_930+18del (n.930+17_930+18del) n.954-3233_954-3232del | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180555dup | CA2580088172 | SOS2 | c.969+18dup (n.969+18dup) c.83+18dup c.789+18dup (n.789+18dup) c.930+18dup (n.930+18dup) n.954-3232dup | ClinVar |
14 | g.50180555del | CA613838904 | SOS2 | c.969+18del (n.969+18del) c.83+18del c.789+18del (n.789+18del) c.930+18del (n.930+18del) n.954-3232del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180554_50180556del | CA2624772200 | SOS2 | c.969+16_969+18del (n.969+16_969+18del) c.83+16_83+18del c.789+16_789+18del (n.789+16_789+18del) c.930+16_930+18del (n.930+16_930+18del) n.954-3233_954-3231del | gnomAD v4 |
14 | g.50180554_50180557delinsCCTT | CA2136084544 | SOS2 | c.969+15_969+18delinsAAGG (n.969+15_969+18delinsAAGG) c.83+15_83+18delinsAAGG c.789+15_789+18delinsAAGG (n.789+15_789+18delinsAAGG) c.930+15_930+18delinsAAGG (n.930+15_930+18delinsAAGG) n.954-3233_954-3230delinsCCTT | |
14 | g.50180554_50180558del | CA7177408 | SOS2 | c.969+14_969+18del (n.969+14_969+18del) c.83+14_83+18del c.789+14_789+18del (n.789+14_789+18del) c.930+14_930+18del (n.930+14_930+18del) n.954-3233_954-3229del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180555_50180558del | CA613838903 | SOS2 | c.969+15_969+18del (n.969+15_969+18del) c.83+15_83+18del c.789+15_789+18del (n.789+15_789+18del) c.930+15_930+18del (n.930+15_930+18del) n.954-3232_954-3229del | gnomAD v2 gnomAD v4 |
14 | g.50180554_50180563del | CA2624772198 | SOS2 | c.969+9_969+18del (n.969+9_969+18del) c.83+9_83+18del c.789+9_789+18del (n.789+9_789+18del) c.930+9_930+18del (n.930+9_930+18del) n.954-3233_954-3224del | gnomAD v4 |
14 | g.50180554_50180555insTTTAA | CA2801534798 | SOS2 | c.969+17_969+18insTTAAA (n.969+17_969+18insTTAAA) c.83+17_83+18insTTAAA c.789+17_789+18insTTAAA (n.789+17_789+18insTTAAA) c.930+17_930+18insTTAAA (n.930+17_930+18insTTAAA) n.954-3233_954-3232insTTTAA | |
14 | g.50180555C>A | CA613838907 | SOS2 | c.969+17G>T (n.969+17G>T) c.83+17G>T c.789+17G>T (n.789+17G>T) c.930+17G>T (n.930+17G>T) n.954-3232C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180555C= | CA2136084549 | SOS2 | c.969+17G= (n.969+17G=) c.83+17G= c.789+17G= (n.789+17G=) c.930+17G= (n.930+17G=) n.954-3232C= | |
14 | g.50180555C>G | CA2624772205 | SOS2 | c.969+17G>C (n.969+17G>C) c.83+17G>C c.789+17G>C (n.789+17G>C) c.930+17G>C (n.930+17G>C) n.954-3232C>G | gnomAD v4 |
14 | g.50180555C>T | CA613838906 | SOS2 | c.969+17G>A (n.969+17G>A) c.83+17G>A c.789+17G>A (n.789+17G>A) c.930+17G>A (n.930+17G>A) n.954-3232C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180556_50180558del | CA7177409 | SOS2 | c.969+15_969+17del (n.969+15_969+17del) c.83+15_83+17del c.789+15_789+17del (n.789+15_789+17del) c.930+15_930+17del (n.930+15_930+17del) n.954-3231_954-3229del | dbSNP ExAC |
14 | g.50180555_50180559del | CA2624772208 | SOS2 | c.969+13_969+17del (n.969+13_969+17del) c.83+13_83+17del c.789+13_789+17del (n.789+13_789+17del) c.930+13_930+17del (n.930+13_930+17del) n.954-3232_954-3228del | gnomAD v4 |
14 | g.50180555_50180560del | CA2624772207 | SOS2 | c.969+12_969+17del (n.969+12_969+17del) c.83+12_83+17del c.789+12_789+17del (n.789+12_789+17del) c.930+12_930+17del (n.930+12_930+17del) n.954-3232_954-3227del | gnomAD v4 |
14 | g.50180555_50180561del | CA2624772206 | SOS2 | c.969+11_969+17del (n.969+11_969+17del) c.83+11_83+17del c.789+11_789+17del (n.789+11_789+17del) c.930+11_930+17del (n.930+11_930+17del) n.954-3232_954-3226del | gnomAD v4 |
14 | g.50180556T>A | CA963008891 | SOS2 | c.969+16A>T (n.969+16A>T) c.83+16A>T c.789+16A>T (n.789+16A>T) c.930+16A>T (n.930+16A>T) n.954-3231T>A | gnomAD v3 gnomAD v4 |
14 | g.50180556T>C | CA2624772211 | SOS2 | c.969+16A>G (n.969+16A>G) c.83+16A>G c.789+16A>G (n.789+16A>G) c.930+16A>G (n.930+16A>G) n.954-3231T>C | gnomAD v4 |
14 | g.50180556T>G | CA2624772212 | SOS2 | c.969+16A>C (n.969+16A>C) c.83+16A>C c.789+16A>C (n.789+16A>C) c.930+16A>C (n.930+16A>C) n.954-3231T>G | gnomAD v4 |
14 | g.50180556_50180559del | CA2624772210 | SOS2 | c.969+13_969+16del (n.969+13_969+16del) c.83+13_83+16del c.789+13_789+16del (n.789+13_789+16del) c.930+13_930+16del (n.930+13_930+16del) n.954-3231_954-3228del | gnomAD v4 |
14 | g.50180557T>A | CA2624772213 | SOS2 | c.969+15A>T (n.969+15A>T) c.83+15A>T c.789+15A>T (n.789+15A>T) c.930+15A>T (n.930+15A>T) n.954-3230T>A | gnomAD v4 |
14 | g.50180557T>C | CA2624772214 | SOS2 | c.969+15A>G (n.969+15A>G) c.83+15A>G c.789+15A>G (n.789+15A>G) c.930+15A>G (n.930+15A>G) n.954-3230T>C | gnomAD v4 |
14 | g.50180557T>G | CA2518663394 | SOS2 | c.969+15A>C (n.969+15A>C) c.83+15A>C c.789+15A>C (n.789+15A>C) c.930+15A>C (n.930+15A>C) n.954-3230T>G | gnomAD v4 |
14 | g.50180558C>A | CA613838908 | SOS2 | c.969+14G>T (n.969+14G>T) c.83+14G>T c.789+14G>T (n.789+14G>T) c.930+14G>T (n.930+14G>T) n.954-3229C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180558C= | CA2136084553 | SOS2 | c.969+14G= (n.969+14G=) c.83+14G= c.789+14G= (n.789+14G=) c.930+14G= (n.930+14G=) n.954-3229C= | |
14 | g.50180558C>G | CA2624772216 | SOS2 | c.969+14G>C (n.969+14G>C) c.83+14G>C c.789+14G>C (n.789+14G>C) c.930+14G>C (n.930+14G>C) n.954-3229C>G | gnomAD v4 |
14 | g.50180558C>T | CA260706541 | SOS2 | c.969+14G>A (n.969+14G>A) c.83+14G>A c.789+14G>A (n.789+14G>A) c.930+14G>A (n.930+14G>A) n.954-3229C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180559A>C | CA2624772239 | SOS2 | c.969+13T>G (n.969+13T>G) c.83+13T>G c.789+13T>G (n.789+13T>G) c.930+13T>G (n.930+13T>G) n.954-3228A>C | gnomAD v4 |
14 | g.50180559A>G | CA2575539811 | SOS2 | c.969+13T>C (n.969+13T>C) c.83+13T>C c.789+13T>C (n.789+13T>C) c.930+13T>C (n.930+13T>C) n.954-3228A>G | gnomAD v4 |
14 | g.50180559A>T | CA2624772240 | SOS2 | c.969+13T>A (n.969+13T>A) c.83+13T>A c.789+13T>A (n.789+13T>A) c.930+13T>A (n.930+13T>A) n.954-3228A>T | gnomAD v4 |
14 | g.50180560_50180561insAAAA | CA2624772222 | SOS2 | c.969+13_969+14insTTTT (n.969+13_969+14insTTTT) c.83+13_83+14insTTTT c.789+13_789+14insTTTT (n.789+13_789+14insTTTT) c.930+13_930+14insTTTT (n.930+13_930+14insTTTT) n.954-3227_954-3226insAAAA | gnomAD v4 |
14 | g.50180560A>C | CA2536278126 | SOS2 | c.969+12T>G (n.969+12T>G) c.83+12T>G c.789+12T>G (n.789+12T>G) c.930+12T>G (n.930+12T>G) n.954-3227A>C | |
14 | g.50180560A>G | CA2624772241 | SOS2 | c.969+12T>C (n.969+12T>C) c.83+12T>C c.789+12T>C (n.789+12T>C) c.930+12T>C (n.930+12T>C) n.954-3227A>G | gnomAD v4 |
14 | g.50180560A>T | CA2624772242 | SOS2 | c.969+12T>A (n.969+12T>A) c.83+12T>A c.789+12T>A (n.789+12T>A) c.930+12T>A (n.930+12T>A) n.954-3227A>T | gnomAD v4 |
14 | g.50180561T>A | CA963008899 | SOS2 | c.969+11A>T (n.969+11A>T) c.83+11A>T c.789+11A>T (n.789+11A>T) c.930+11A>T (n.930+11A>T) n.954-3226T>A | gnomAD v3 gnomAD v4 |
14 | g.50180561T>C | CA7177410 | SOS2 | c.969+11A>G (n.969+11A>G) c.83+11A>G c.789+11A>G (n.789+11A>G) c.930+11A>G (n.930+11A>G) n.954-3226T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180561T= | CA2136084555 | SOS2 | c.969+11A= (n.969+11A=) c.83+11A= c.789+11A= (n.789+11A=) c.930+11A= (n.930+11A=) n.954-3226T= | |
14 | g.50180563dup | CA2624772243 | SOS2 | c.969+11dup (n.969+11dup) c.83+11dup c.789+11dup (n.789+11dup) c.930+11dup (n.930+11dup) n.954-3224dup | gnomAD v4 |
14 | g.50180562T>A | CA2575539812 | SOS2 | c.969+10A>T (n.969+10A>T) c.83+10A>T c.789+10A>T (n.789+10A>T) c.930+10A>T (n.930+10A>T) n.954-3225T>A | gnomAD v4 |
14 | g.50180563T>A | CA2624772244 | SOS2 | c.969+9A>T (n.969+9A>T) c.83+9A>T c.789+9A>T (n.789+9A>T) c.930+9A>T (n.930+9A>T) n.954-3224T>A | gnomAD v4 |
14 | g.50180563T>C | CA7177411 | SOS2 | c.969+9A>G (n.969+9A>G) c.83+9A>G c.789+9A>G (n.789+9A>G) c.930+9A>G (n.930+9A>G) n.954-3224T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180563T= | CA2136084557 | SOS2 | c.969+9A= (n.969+9A=) c.83+9A= c.789+9A= (n.789+9A=) c.930+9A= (n.930+9A=) n.954-3224T= | |
14 | g.50180564A>G | CA2624772245 | SOS2 | c.969+8T>C (n.969+8T>C) c.83+8T>C c.789+8T>C (n.789+8T>C) c.930+8T>C (n.930+8T>C) n.954-3223A>G | gnomAD v4 |
14 | g.50180564A>T | CA2575539813 | SOS2 | c.969+8T>A (n.969+8T>A) c.83+8T>A c.789+8T>A (n.789+8T>A) c.930+8T>A (n.930+8T>A) n.954-3223A>T | gnomAD v4 |
14 | g.50180565A>G | CA2624772247 | SOS2 | c.969+7T>C (n.969+7T>C) c.83+7T>C c.789+7T>C (n.789+7T>C) c.930+7T>C (n.930+7T>C) n.954-3222A>G | gnomAD v4 |
14 | g.50180565A>T | CA2624772246 | SOS2 | c.969+7T>A (n.969+7T>A) c.83+7T>A c.789+7T>A (n.789+7T>A) c.930+7T>A (n.930+7T>A) n.954-3222A>T | gnomAD v4 |
14 | g.50180566G>A | CA613838909 | SOS2 | c.969+6C>T (n.969+6C>T) c.83+6C>T c.789+6C>T (n.789+6C>T) c.930+6C>T (n.930+6C>T) n.954-3221G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180566G>C | CA2624772250 | SOS2 | c.969+6C>G (n.969+6C>G) c.83+6C>G c.789+6C>G (n.789+6C>G) c.930+6C>G (n.930+6C>G) n.954-3221G>C | gnomAD v4 |
14 | g.50180566G= | CA2136084559 | SOS2 | c.969+6C= (n.969+6C=) c.83+6C= c.789+6C= (n.789+6C=) c.930+6C= (n.930+6C=) n.954-3221G= | |
14 | g.50180566G>T | CA963008900 | SOS2 | c.969+6C>A (n.969+6C>A) c.83+6C>A c.789+6C>A (n.789+6C>A) c.930+6C>A (n.930+6C>A) n.954-3221G>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180567T>A | CA2624772256 | SOS2 | c.969+5A>T (n.969+5A>T) c.83+5A>T c.789+5A>T (n.789+5A>T) c.930+5A>T (n.930+5A>T) n.954-3220T>A | gnomAD v4 |
14 | g.50180567T>C | CA2624772257 | SOS2 | c.969+5A>G (n.969+5A>G) c.83+5A>G c.789+5A>G (n.789+5A>G) c.930+5A>G (n.930+5A>G) n.954-3220T>C | ClinVar gnomAD v4 |
14 | g.50180569del | CA2575539814 | SOS2 | c.969+5del (n.969+5del) c.83+5del c.789+5del (n.789+5del) c.930+5del (n.930+5del) n.954-3218del | gnomAD v4 |
14 | g.50180568T>C | CA2624772258 | SOS2 | c.969+4A>G (n.969+4A>G) c.83+4A>G c.789+4A>G (n.789+4A>G) c.930+4A>G (n.930+4A>G) n.954-3219T>C | gnomAD v4 |
14 | g.50180569T>C | CA613838910 | SOS2 | c.969+3A>G (n.969+3A>G) c.83+3A>G c.789+3A>G (n.789+3A>G) c.930+3A>G (n.930+3A>G) n.954-3218T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180569T= | CA2136084561 | SOS2 | c.969+3A= (n.969+3A=) c.83+3A= c.789+3A= (n.789+3A=) c.930+3A= (n.930+3A=) n.954-3218T= | |
14 | g.50180570A>C | CA389646891 | SOS2 | c.969+2T>G (n.969+2T>G) c.83+2T>G c.789+2T>G (n.789+2T>G) c.930+2T>G (n.930+2T>G) n.954-3217A>C | gnomAD v4 |
14 | g.50180570A>G | CA389646892 | SOS2 | c.969+2T>C (n.969+2T>C) c.83+2T>C c.789+2T>C (n.789+2T>C) c.930+2T>C (n.930+2T>C) n.954-3217A>G | gnomAD v4 |
14 | g.50180570A>T | CA389646893 | SOS2 | c.969+2T>A (n.969+2T>A) c.83+2T>A c.789+2T>A (n.789+2T>A) c.930+2T>A (n.930+2T>A) n.954-3217A>T | gnomAD v4 |
14 | g.50180570_50180571insAAAAAAAAAAAAAAAAAA | CA2624772260 | SOS2 | c.969+2_969+3insTTTTTTTTTTTTTTTTTT (n.969+2_969+3insTTTTTTTTTTTTTTTTTT) c.83+2_83+3insTTTTTTTTTTTTTTTTTT c.789+2_789+3insTTTTTTTTTTTTTTTTTT (n.789+2_789+3insTTTTTTTTTTTTTTTTTT) c.930+2_930+3insTTTTTTTTTTTTTTTTTT (n.930+2_930+3insTTTTTTTTTTTTTTTTTT) n.954-3217_954-3216insAAAAAAAAAAAAAAAAAA | gnomAD v4 |
14 | g.50180571C>A | CA389646896 | SOS2 | c.969+1G>T (n.969+1G>T) c.83+1G>T c.789+1G>T (n.789+1G>T) c.930+1G>T (n.930+1G>T) n.954-3216C>A | gnomAD v3 gnomAD v4 |
14 | g.50180571C>G | CA389646894 | SOS2 | c.969+1G>C (n.969+1G>C) c.83+1G>C c.789+1G>C (n.789+1G>C) c.930+1G>C (n.930+1G>C) n.954-3216C>G | |
14 | g.50180571C>T | CA389646895 | SOS2 | c.969+1G>A (n.969+1G>A) c.83+1G>A c.789+1G>A (n.789+1G>A) c.930+1G>A (n.930+1G>A) n.954-3216C>T | gnomAD v4 |
14 | g.50180572C>A | CA260706574 | SOS2 | c.969G>T (p.Gln323His) c.83G>T c.789G>T (p.Gln263His) c.930G>T (p.Gln310His) n.954-3215C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180572C= | CA2136084565 | SOS2 | c.969G= (p.Gln323=) c.83G= c.789G= (p.Gln263=) c.930G= (p.Gln310=) n.954-3215C= | |
14 | g.50180572C>G | CA389646897 | SOS2 | c.969G>C (p.Gln323His) c.83G>C c.789G>C (p.Gln263His) c.930G>C (p.Gln310His) n.954-3215C>G | |
14 | g.50180572C>T | CA486169199 | SOS2 | c.969G>A (p.Gln323=) c.83G>A c.789G>A (p.Gln263=) c.930G>A (p.Gln310=) n.954-3215C>T | gnomAD v4 |
14 | g.50180573T>A | CA389646898 | SOS2 | c.968A>T (p.Gln323Leu) c.82A>T c.788A>T (p.Gln263Leu) c.929A>T (p.Gln310Leu) n.954-3214T>A | gnomAD v4 |
14 | g.50180573T>C | CA389646899 | SOS2 | c.968A>G (p.Gln323Arg) c.82A>G c.788A>G (p.Gln263Arg) c.929A>G (p.Gln310Arg) n.954-3214T>C | gnomAD v4 |
14 | g.50180573T>G | CA389646900 | SOS2 | c.968A>C (p.Gln323Pro) c.82A>C c.788A>C (p.Gln263Pro) c.929A>C (p.Gln310Pro) n.954-3214T>G | gnomAD v4 |
14 | g.50180574G>A | CA389646901 | SOS2 | c.967C>T (p.Gln323Ter) c.81C>T c.787C>T (p.Gln263Ter) c.928C>T (p.Gln310Ter) n.954-3213G>A | gnomAD v4 COSMIC COSMIC |
14 | g.50180574G>C | CA389646902 | SOS2 | c.967C>G (p.Gln323Glu) c.81C>G c.787C>G (p.Gln263Glu) c.928C>G (p.Gln310Glu) n.954-3213G>C | gnomAD v4 |
14 | g.50180574G>T | CA389646903 | SOS2 | c.967C>A (p.Gln323Lys) c.81C>A c.787C>A (p.Gln263Lys) c.928C>A (p.Gln310Lys) n.954-3213G>T | gnomAD v4 |
14 | g.50180575A= | CA2136084567 | SOS2 | c.966T= (p.Phe322=) c.80T= c.786T= (p.Phe262=) c.927T= (p.Phe309=) n.954-3212A= | |
14 | g.50180575A>C | CA389646904 | SOS2 | c.966T>G (p.Phe322Leu) c.80T>G c.786T>G (p.Phe262Leu) c.927T>G (p.Phe309Leu) n.954-3212A>C | |
14 | g.50180575A>G | CA486169219 | SOS2 | c.966T>C (p.Phe322=) c.80T>C c.786T>C (p.Phe262=) c.927T>C (p.Phe309=) n.954-3212A>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180575A>T | CA389646905 | SOS2 | c.966T>A (p.Phe322Leu) c.80T>A c.786T>A (p.Phe262Leu) c.927T>A (p.Phe309Leu) n.954-3212A>T | gnomAD v4 |
14 | g.50180576A>C | CA389646906 | SOS2 | c.965T>G (p.Phe322Cys) c.79T>G c.785T>G (p.Phe262Cys) c.926T>G (p.Phe309Cys) n.954-3211A>C | |
14 | g.50180576A>G | CA389646907 | SOS2 | c.965T>C (p.Phe322Ser) c.79T>C c.785T>C (p.Phe262Ser) c.926T>C (p.Phe309Ser) n.954-3211A>G | gnomAD v4 |
14 | g.50180576A>T | CA389646908 | SOS2 | c.965T>A (p.Phe322Tyr) c.79T>A c.785T>A (p.Phe262Tyr) c.926T>A (p.Phe309Tyr) n.954-3211A>T | |
14 | g.50180577A>C | CA389646909 | SOS2 | c.964T>G (p.Phe322Val) c.78T>G c.784T>G (p.Phe262Val) c.925T>G (p.Phe309Val) n.954-3210A>C | |
14 | g.50180577A>G | CA389646911 | SOS2 | c.964T>C (p.Phe322Leu) c.78T>C c.784T>C (p.Phe262Leu) c.925T>C (p.Phe309Leu) n.954-3210A>G | gnomAD v4 |
14 | g.50180577A>T | CA389646910 | SOS2 | c.964T>A (p.Phe322Ile) c.78T>A c.784T>A (p.Phe262Ile) c.925T>A (p.Phe309Ile) n.954-3210A>T | gnomAD v4 |
14 | g.50180578G>A | CA486169231 | SOS2 | c.963C>T (p.His321=) c.77C>T c.783C>T (p.His261=) c.924C>T (p.His308=) n.954-3209G>A | gnomAD v4 |
14 | g.50180578G>C | CA389646912 | SOS2 | c.963C>G (p.His321Gln) c.77C>G c.783C>G (p.His261Gln) c.924C>G (p.His308Gln) n.954-3209G>C | |
14 | g.50180578G>T | CA389646913 | SOS2 | c.963C>A (p.His321Gln) c.77C>A c.783C>A (p.His261Gln) c.924C>A (p.His308Gln) n.954-3209G>T | gnomAD v4 |
14 | g.50180579T>A | CA389646914 | SOS2 | c.962A>T (p.His321Leu) c.76A>T c.782A>T (p.His261Leu) c.923A>T (p.His308Leu) n.954-3208T>A | |
14 | g.50180579T>C | CA389646915 | SOS2 | c.962A>G (p.His321Arg) c.76A>G c.782A>G (p.His261Arg) c.923A>G (p.His308Arg) n.954-3208T>C | dbSNP gnomAD v4 |
14 | g.50180579T>G | CA260706580 | SOS2 | c.962A>C (p.His321Pro) c.76A>C c.782A>C (p.His261Pro) c.923A>C (p.His308Pro) n.954-3208T>G | dbSNP gnomAD v4 |
14 | g.50180579T= | CA2136084570 | SOS2 | c.962A= (p.His321=) c.76A= c.782A= (p.His261=) c.923A= (p.His308=) n.954-3208T= | |
14 | g.50180580G>A | CA389646916 | SOS2 | c.961C>T (p.His321Tyr) c.75C>T c.781C>T (p.His261Tyr) c.922C>T (p.His308Tyr) n.954-3207G>A | ClinVar gnomAD v4 |
14 | g.50180580G>C | CA389646917 | SOS2 | c.961C>G (p.His321Asp) c.75C>G c.781C>G (p.His261Asp) c.922C>G (p.His308Asp) n.954-3207G>C | |
14 | g.50180580G>T | CA389646918 | SOS2 | c.961C>A (p.His321Asn) c.75C>A c.781C>A (p.His261Asn) c.922C>A (p.His308Asn) n.954-3207G>T | gnomAD v4 |
14 | g.50180581T>A | CA486169240 | SOS2 | c.960A>T (p.Leu320=) c.74A>T c.780A>T (p.Leu260=) c.921A>T (p.Leu307=) n.954-3206T>A | gnomAD v4 |
14 | g.50180581T>C | CA486169241 | SOS2 | c.960A>G (p.Leu320=) c.74A>G c.780A>G (p.Leu260=) c.921A>G (p.Leu307=) n.954-3206T>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180581T>G | CA486169244 | SOS2 | c.960A>C (p.Leu320=) c.74A>C c.780A>C (p.Leu260=) c.921A>C (p.Leu307=) n.954-3206T>G | |
14 | g.50180581T= | CA2136084572 | SOS2 | c.960A= (p.Leu320=) c.74A= c.780A= (p.Leu260=) c.921A= (p.Leu307=) n.954-3206T= | |
14 | g.50180582A>C | CA389646919 | SOS2 | c.959T>G (p.Leu320Arg) c.73T>G c.779T>G (p.Leu260Arg) c.920T>G (p.Leu307Arg) n.954-3205A>C | |
14 | g.50180582A>G | CA389646920 | SOS2 | c.959T>C (p.Leu320Pro) c.73T>C c.779T>C (p.Leu260Pro) c.920T>C (p.Leu307Pro) n.954-3205A>G | gnomAD v4 |
14 | g.50180582A>T | CA389646921 | SOS2 | c.959T>A (p.Leu320Gln) c.73T>A c.779T>A (p.Leu260Gln) c.920T>A (p.Leu307Gln) n.954-3205A>T | gnomAD v4 |