Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
14 | g.50180583G>A | CA7177412 | SOS2 | c.958C>T (p.Leu320=) c.72C>T c.778C>T (p.Leu260=) c.919C>T (p.Leu307=) n.954-3204G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180583G>C | CA7177413 | SOS2 | c.958C>G (p.Leu320Val) c.72C>G c.778C>G (p.Leu260Val) c.919C>G (p.Leu307Val) n.954-3204G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180583G= | CA2136084577 | SOS2 | c.958C= (p.Leu320=) c.72C= c.778C= (p.Leu260=) c.919C= (p.Leu307=) n.954-3204G= | |
14 | g.50180583G>T | CA389646922 | SOS2 | c.958C>A (p.Leu320Ile) c.72C>A c.778C>A (p.Leu260Ile) c.919C>A (p.Leu307Ile) n.954-3204G>T | gnomAD v4 |
14 | g.50180584A= | CA2136084578 | SOS2 | c.957T= (p.Ala319=) c.71T= c.777T= (p.Ala259=) c.918T= (p.Ala306=) n.954-3203A= | |
14 | g.50180584A>C | CA486169257 | SOS2 | c.957T>G (p.Ala319=) c.71T>G c.777T>G (p.Ala259=) c.918T>G (p.Ala306=) n.954-3203A>C | |
14 | g.50180584A>G | CA486169259 | SOS2 | c.957T>C (p.Ala319=) c.71T>C c.777T>C (p.Ala259=) c.918T>C (p.Ala306=) n.954-3203A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180584A>T | CA486169262 | SOS2 | c.957T>A (p.Ala319=) c.71T>A c.777T>A (p.Ala259=) c.918T>A (p.Ala306=) n.954-3203A>T | gnomAD v4 |
14 | g.50180585G>A | CA389646923 | SOS2 | c.956C>T (p.Ala319Val) c.70C>T c.776C>T (p.Ala259Val) c.917C>T (p.Ala306Val) n.954-3202G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.50180585G>C | CA389646924 | SOS2 | c.956C>G (p.Ala319Gly) c.70C>G c.776C>G (p.Ala259Gly) c.917C>G (p.Ala306Gly) n.954-3202G>C | |
14 | g.50180585G= | CA2136084580 | SOS2 | c.956C= (p.Ala319=) c.70C= c.776C= (p.Ala259=) c.917C= (p.Ala306=) n.954-3202G= | |
14 | g.50180585G>T | CA389646925 | SOS2 | c.956C>A (p.Ala319Asp) c.70C>A c.776C>A (p.Ala259Asp) c.917C>A (p.Ala306Asp) n.954-3202G>T | gnomAD v4 |
14 | g.50180586C>A | CA389646926 | SOS2 | c.955G>T (p.Ala319Ser) c.69G>T c.775G>T (p.Ala259Ser) c.916G>T (p.Ala306Ser) n.954-3201C>A | gnomAD v3 gnomAD v4 |
14 | g.50180586C= | CA2136084583 | SOS2 | c.955G= (p.Ala319=) c.69G= c.775G= (p.Ala259=) c.916G= (p.Ala306=) n.954-3201C= | |
14 | g.50180586C>G | CA389646927 | SOS2 | c.955G>C (p.Ala319Pro) c.69G>C c.775G>C (p.Ala259Pro) c.916G>C (p.Ala306Pro) n.954-3201C>G | |
14 | g.50180586C>T | CA389646928 | SOS2 | c.955G>A (p.Ala319Thr) c.69G>A c.775G>A (p.Ala259Thr) c.916G>A (p.Ala306Thr) n.954-3201C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180587A= | CA2136084588 | SOS2 | c.954T= (p.Val318=) c.68T= c.774T= (p.Val258=) c.915T= (p.Val305=) n.954-3200A= | |
14 | g.50180587A>C | CA486169288 | SOS2 | c.954T>G (p.Val318=) c.68T>G c.774T>G (p.Val258=) c.915T>G (p.Val305=) n.954-3200A>C | |
14 | g.50180587A>G | CA486169286 | SOS2 | c.954T>C (p.Val318=) c.68T>C c.774T>C (p.Val258=) c.915T>C (p.Val305=) n.954-3200A>G | gnomAD v4 |
14 | g.50180587A>T | CA486169284 | SOS2 | c.954T>A (p.Val318=) c.68T>A c.774T>A (p.Val258=) c.915T>A (p.Val305=) n.954-3200A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180588A>C | CA389646929 | SOS2 | c.953T>G (p.Val318Gly) c.67T>G c.773T>G (p.Val258Gly) c.914T>G (p.Val305Gly) n.954-3199A>C | gnomAD v4 |
14 | g.50180588A>G | CA389646930 | SOS2 | c.953T>C (p.Val318Ala) c.67T>C c.773T>C (p.Val258Ala) c.914T>C (p.Val305Ala) n.954-3199A>G | |
14 | g.50180588A>T | CA389646931 | SOS2 | c.953T>A (p.Val318Asp) c.67T>A c.773T>A (p.Val258Asp) c.914T>A (p.Val305Asp) n.954-3199A>T | |
14 | g.50180588_50180590dup | CA2624772313 | SOS2 | c.951_953dup (p.Val318_Ala319insVal) c.65_67dup c.771_773dup (p.Val258_Ala259insVal) c.912_914dup (p.Val305_Ala306insVal) n.954-3199_954-3197dup | gnomAD v4 |
14 | g.50180589C>A | CA7177414 | SOS2 | c.952G>T (p.Val318Phe) c.66G>T c.772G>T (p.Val258Phe) c.913G>T (p.Val305Phe) n.954-3198C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180589C= | CA2136084595 | SOS2 | c.952G= (p.Val318=) c.66G= c.772G= (p.Val258=) c.913G= (p.Val305=) n.954-3198C= | |
14 | g.50180589C>G | CA389646932 | SOS2 | c.952G>C (p.Val318Leu) c.66G>C c.772G>C (p.Val258Leu) c.913G>C (p.Val305Leu) n.954-3198C>G | gnomAD v4 |
14 | g.50180589C>T | CA389646933 | SOS2 | c.952G>A (p.Val318Ile) c.66G>A c.772G>A (p.Val258Ile) c.913G>A (p.Val305Ile) n.954-3198C>T | gnomAD v4 |
14 | g.50180590T>A | CA486169302 | SOS2 | c.951A>T (p.Ala317=) c.65A>T c.771A>T (p.Ala257=) c.912A>T (p.Ala304=) n.954-3197T>A | |
14 | g.50180590T>C | CA486169304 | SOS2 | c.951A>G (p.Ala317=) c.65A>G c.771A>G (p.Ala257=) c.912A>G (p.Ala304=) n.954-3197T>C | gnomAD v4 |
14 | g.50180590T>G | CA486169307 | SOS2 | c.951A>C (p.Ala317=) c.65A>C c.771A>C (p.Ala257=) c.912A>C (p.Ala304=) n.954-3197T>G | |
14 | g.50180591G>A | CA260706613 | SOS2 | c.950C>T (p.Ala317Val) c.64C>T c.770C>T (p.Ala257Val) c.911C>T (p.Ala304Val) n.954-3196G>A | dbSNP gnomAD v4 |
14 | g.50180591G>C | CA389646935 | SOS2 | c.950C>G (p.Ala317Gly) c.64C>G c.770C>G (p.Ala257Gly) c.911C>G (p.Ala304Gly) n.954-3196G>C | |
14 | g.50180591G= | CA2136084598 | SOS2 | c.950C= (p.Ala317=) c.64C= c.770C= (p.Ala257=) c.911C= (p.Ala304=) n.954-3196G= | |
14 | g.50180591G>T | CA389646934 | SOS2 | c.950C>A (p.Ala317Glu) c.64C>A c.770C>A (p.Ala257Glu) c.911C>A (p.Ala304Glu) n.954-3196G>T | gnomAD v4 |
14 | g.50180592C>A | CA389646936 | SOS2 | c.949G>T (p.Ala317Ser) c.63G>T c.769G>T (p.Ala257Ser) c.910G>T (p.Ala304Ser) n.954-3195C>A | gnomAD v4 |
14 | g.50180592C>G | CA389646938 | SOS2 | c.949G>C (p.Ala317Pro) c.63G>C c.769G>C (p.Ala257Pro) c.910G>C (p.Ala304Pro) n.954-3195C>G | |
14 | g.50180592C>T | CA389646937 | SOS2 | c.949G>A (p.Ala317Thr) c.63G>A c.769G>A (p.Ala257Thr) c.910G>A (p.Ala304Thr) n.954-3195C>T | ClinVar dbSNP gnomAD v4 |
14 | g.50180593A= | CA2136084600 | SOS2 | c.948T= (p.Pro316=) c.62T= c.768T= (p.Pro256=) c.909T= (p.Pro303=) n.954-3194A= | |
14 | g.50180593A>C | CA486169319 | SOS2 | c.948T>G (p.Pro316=) c.62T>G c.768T>G (p.Pro256=) c.909T>G (p.Pro303=) n.954-3194A>C | |
14 | g.50180593A>G | CA486169331 | SOS2 | c.948T>C (p.Pro316=) c.62T>C c.768T>C (p.Pro256=) c.909T>C (p.Pro303=) n.954-3194A>G | gnomAD v4 |
14 | g.50180593A>T | CA486169321 | SOS2 | c.948T>A (p.Pro316=) c.62T>A c.768T>A (p.Pro256=) c.909T>A (p.Pro303=) n.954-3194A>T | dbSNP gnomAD v4 |
14 | g.50180594G>A | CA389646939 | SOS2 | c.947C>T (p.Pro316Leu) c.61C>T c.767C>T (p.Pro256Leu) c.908C>T (p.Pro303Leu) n.954-3193G>A | |
14 | g.50180594G>C | CA389646940 | SOS2 | c.947C>G (p.Pro316Arg) c.61C>G c.767C>G (p.Pro256Arg) c.908C>G (p.Pro303Arg) n.954-3193G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180594G= | CA2136084601 | SOS2 | c.947C= (p.Pro316=) c.61C= c.767C= (p.Pro256=) c.908C= (p.Pro303=) n.954-3193G= | |
14 | g.50180594G>T | CA389646941 | SOS2 | c.947C>A (p.Pro316His) c.61C>A c.767C>A (p.Pro256His) c.908C>A (p.Pro303His) n.954-3193G>T | gnomAD v4 |
14 | g.50180595G>A | CA389646942 | SOS2 | c.946C>T (p.Pro316Ser) c.60C>T c.766C>T (p.Pro256Ser) c.907C>T (p.Pro303Ser) n.954-3192G>A | |
14 | g.50180595G>C | CA389646943 | SOS2 | c.946C>G (p.Pro316Ala) c.60C>G c.766C>G (p.Pro256Ala) c.907C>G (p.Pro303Ala) n.954-3192G>C | |
14 | g.50180595G>T | CA389646944 | SOS2 | c.946C>A (p.Pro316Thr) c.60C>A c.766C>A (p.Pro256Thr) c.907C>A (p.Pro303Thr) n.954-3192G>T | gnomAD v4 |
14 | g.50180596T>A | CA389646945 | SOS2 | c.945A>T (p.Arg315Ser) c.59A>T c.765A>T (p.Arg255Ser) c.906A>T (p.Arg302Ser) n.954-3191T>A | |
14 | g.50180596T>C | CA486169353 | SOS2 | c.945A>G (p.Arg315=) c.59A>G c.765A>G (p.Arg255=) c.906A>G (p.Arg302=) n.954-3191T>C | gnomAD v4 |
14 | g.50180596T>G | CA389646946 | SOS2 | c.945A>C (p.Arg315Ser) c.59A>C c.765A>C (p.Arg255Ser) c.906A>C (p.Arg302Ser) n.954-3191T>G | |
14 | g.50180597C>A | CA389646947 | SOS2 | c.944G>T (p.Arg315Ile) c.58G>T c.764G>T (p.Arg255Ile) c.905G>T (p.Arg302Ile) n.954-3190C>A | gnomAD v4 COSMIC COSMIC |
14 | g.50180597C>G | CA389646948 | SOS2 | c.944G>C (p.Arg315Thr) c.58G>C c.764G>C (p.Arg255Thr) c.905G>C (p.Arg302Thr) n.954-3190C>G | COSMIC COSMIC |
14 | g.50180597C>T | CA389646949 | SOS2 | c.944G>A (p.Arg315Lys) c.58G>A c.764G>A (p.Arg255Lys) c.905G>A (p.Arg302Lys) n.954-3190C>T | ClinVar dbSNP |
14 | g.50180598T>A | CA389646950 | SOS2 | c.943A>T (p.Arg315Ter) c.57A>T c.763A>T (p.Arg255Ter) c.904A>T (p.Arg302Ter) n.954-3189T>A | |
14 | g.50180598T>C | CA389646951 | SOS2 | c.943A>G (p.Arg315Gly) c.57A>G c.763A>G (p.Arg255Gly) c.904A>G (p.Arg302Gly) n.954-3189T>C | |
14 | g.50180598T>G | CA486169363 | SOS2 | c.943A>C (p.Arg315=) c.57A>C c.763A>C (p.Arg255=) c.904A>C (p.Arg302=) n.954-3189T>G | |
14 | g.50180599G>A | CA486169366 | SOS2 | c.942C>T (p.Ala314=) c.56C>T c.762C>T (p.Ala254=) c.903C>T (p.Ala301=) n.954-3188G>A | gnomAD v4 |
14 | g.50180599G>C | CA486169368 | SOS2 | c.942C>G (p.Ala314=) c.56C>G c.762C>G (p.Ala254=) c.903C>G (p.Ala301=) n.954-3188G>C | ClinVar |
14 | g.50180599G>T | CA486169371 | SOS2 | c.942C>A (p.Ala314=) c.56C>A c.762C>A (p.Ala254=) c.903C>A (p.Ala301=) n.954-3188G>T | gnomAD v4 |
14 | g.50180600G>A | CA389646954 | SOS2 | c.941C>T (p.Ala314Val) c.55C>T c.761C>T (p.Ala254Val) c.902C>T (p.Ala301Val) n.954-3187G>A | gnomAD v4 |
14 | g.50180600G>C | CA389646953 | SOS2 | c.941C>G (p.Ala314Gly) c.55C>G c.761C>G (p.Ala254Gly) c.902C>G (p.Ala301Gly) n.954-3187G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50180600G= | CA2136084603 | SOS2 | c.941C= (p.Ala314=) c.55C= c.761C= (p.Ala254=) c.902C= (p.Ala301=) n.954-3187G= | |
14 | g.50180600G>T | CA389646952 | SOS2 | c.941C>A (p.Ala314Asp) c.55C>A c.761C>A (p.Ala254Asp) c.902C>A (p.Ala301Asp) n.954-3187G>T | gnomAD v4 |
14 | g.50180601C>A | CA389646955 | SOS2 | c.940G>T (p.Ala314Ser) c.54G>T c.760G>T (p.Ala254Ser) c.901G>T (p.Ala301Ser) n.954-3186C>A | gnomAD v4 |
14 | g.50180601C= | CA2136084607 | SOS2 | c.940G= (p.Ala314=) c.54G= c.760G= (p.Ala254=) c.901G= (p.Ala301=) n.954-3186C= | |
14 | g.50180601C>G | CA389646956 | SOS2 | c.940G>C (p.Ala314Pro) c.54G>C c.760G>C (p.Ala254Pro) c.901G>C (p.Ala301Pro) n.954-3186C>G | gnomAD v4 |
14 | g.50180601C>T | CA389646957 | SOS2 | c.940G>A (p.Ala314Thr) c.54G>A c.760G>A (p.Ala254Thr) c.901G>A (p.Ala301Thr) n.954-3186C>T | ClinVar dbSNP gnomAD v4 |
14 | g.50180602C>A | CA389646958 | SOS2 | c.939G>T (p.Met313Ile) c.53G>T c.759G>T (p.Met253Ile) c.900G>T (p.Met300Ile) n.954-3185C>A | |
14 | g.50180602C= | CA2136084611 | SOS2 | c.939G= (p.Met313=) c.53G= c.759G= (p.Met253=) c.900G= (p.Met300=) n.954-3185C= | |
14 | g.50180602C>G | CA389646959 | SOS2 | c.939G>C (p.Met313Ile) c.53G>C c.759G>C (p.Met253Ile) c.900G>C (p.Met300Ile) n.954-3185C>G | |
14 | g.50180602C>T | CA389646960 | SOS2 | c.939G>A (p.Met313Ile) c.53G>A c.759G>A (p.Met253Ile) c.900G>A (p.Met300Ile) n.954-3185C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180603A>C | CA389646961 | SOS2 | c.938T>G (p.Met313Arg) c.52T>G c.758T>G (p.Met253Arg) c.899T>G (p.Met300Arg) n.954-3184A>C | |
14 | g.50180603A>G | CA389646962 | SOS2 | c.938T>C (p.Met313Thr) c.52T>C c.758T>C (p.Met253Thr) c.899T>C (p.Met300Thr) n.954-3184A>G | |
14 | g.50180603A>T | CA389646963 | SOS2 | c.938T>A (p.Met313Lys) c.52T>A c.758T>A (p.Met253Lys) c.899T>A (p.Met300Lys) n.954-3184A>T | |
14 | g.50180604T>A | CA389646964 | SOS2 | c.937A>T (p.Met313Leu) c.51A>T c.757A>T (p.Met253Leu) c.898A>T (p.Met300Leu) n.954-3183T>A | |
14 | g.50180604T>C | CA389646965 | SOS2 | c.937A>G (p.Met313Val) c.51A>G c.757A>G (p.Met253Val) c.898A>G (p.Met300Val) n.954-3183T>C | gnomAD v4 |
14 | g.50180604T>G | CA389646966 | SOS2 | c.937A>C (p.Met313Leu) c.51A>C c.757A>C (p.Met253Leu) c.898A>C (p.Met300Leu) n.954-3183T>G | |
14 | g.50180605C>A | CA389646967 | SOS2 | c.936G>T (p.Leu312Phe) c.50G>T c.756G>T (p.Leu252Phe) c.897G>T (p.Leu299Phe) n.954-3182C>A | |
14 | g.50180605C>G | CA389646968 | SOS2 | c.936G>C (p.Leu312Phe) c.50G>C c.756G>C (p.Leu252Phe) c.897G>C (p.Leu299Phe) n.954-3182C>G | |
14 | g.50180605C>T | CA486169411 | SOS2 | c.936G>A (p.Leu312=) c.50G>A c.756G>A (p.Leu252=) c.897G>A (p.Leu299=) n.954-3182C>T | dbSNP |
14 | g.50180606A>C | CA389646970 | SOS2 | c.935T>G (p.Leu312Trp) c.49T>G c.755T>G (p.Leu252Trp) c.896T>G (p.Leu299Trp) n.954-3181A>C | |
14 | g.50180606A>G | CA389646971 | SOS2 | c.935T>C (p.Leu312Ser) c.49T>C c.755T>C (p.Leu252Ser) c.896T>C (p.Leu299Ser) n.954-3181A>G | gnomAD v4 |
14 | g.50180606A>T | CA389646969 | SOS2 | c.935T>A (p.Leu312Ter) c.49T>A c.755T>A (p.Leu252Ter) c.896T>A (p.Leu299Ter) n.954-3181A>T | |
14 | g.50180607A= | CA2136084613 | SOS2 | c.934T= (p.Leu312=) c.48T= c.754T= (p.Leu252=) c.895T= (p.Leu299=) n.954-3180A= | |
14 | g.50180607A>C | CA389646972 | SOS2 | c.934T>G (p.Leu312Val) c.48T>G c.754T>G (p.Leu252Val) c.895T>G (p.Leu299Val) n.954-3180A>C | dbSNP |
14 | g.50180607A>G | CA7177415 | SOS2 | c.934T>C (p.Leu312=) c.48T>C c.754T>C (p.Leu252=) c.895T>C (p.Leu299=) n.954-3180A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180607A>T | CA389646973 | SOS2 | c.934T>A (p.Leu312Met) c.48T>A c.754T>A (p.Leu252Met) c.895T>A (p.Leu299Met) n.954-3180A>T | |
14 | g.50180608T>A | CA389646974 | SOS2 | c.933A>T (p.Lys311Asn) c.47A>T c.753A>T (p.Lys251Asn) c.894A>T (p.Lys298Asn) n.954-3179T>A | dbSNP |
14 | g.50180608T>C | CA486169418 | SOS2 | c.933A>G (p.Lys311=) c.47A>G c.753A>G (p.Lys251=) c.894A>G (p.Lys298=) n.954-3179T>C | |
14 | g.50180608T>G | CA389646975 | SOS2 | c.933A>C (p.Lys311Asn) c.47A>C c.753A>C (p.Lys251Asn) c.894A>C (p.Lys298Asn) n.954-3179T>G | |
14 | g.50180608T= | CA2136084616 | SOS2 | c.933A= (p.Lys311=) c.47A= c.753A= (p.Lys251=) c.894A= (p.Lys298=) n.954-3179T= | |
14 | g.50180609T>A | CA389646976 | SOS2 | c.932A>T (p.Lys311Ile) c.46A>T c.752A>T (p.Lys251Ile) c.893A>T (p.Lys298Ile) n.954-3178T>A | |
14 | g.50180609T>C | CA389646977 | SOS2 | c.932A>G (p.Lys311Arg) c.46A>G c.752A>G (p.Lys251Arg) c.893A>G (p.Lys298Arg) n.954-3178T>C | |
14 | g.50180609T>G | CA389646978 | SOS2 | c.932A>C (p.Lys311Thr) c.46A>C c.752A>C (p.Lys251Thr) c.893A>C (p.Lys298Thr) n.954-3178T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180610T>A | CA260706640 | SOS2 | c.931A>T (p.Lys311Ter) c.45A>T c.751A>T (p.Lys251Ter) c.892A>T (p.Lys298Ter) n.954-3177T>A | dbSNP |
14 | g.50180610T>C | CA389646979 | SOS2 | c.931A>G (p.Lys311Glu) c.45A>G c.751A>G (p.Lys251Glu) c.892A>G (p.Lys298Glu) n.954-3177T>C | |
14 | g.50180610T>G | CA389646980 | SOS2 | c.931A>C (p.Lys311Gln) c.45A>C c.751A>C (p.Lys251Gln) c.892A>C (p.Lys298Gln) n.954-3177T>G | |
14 | g.50180610T= | CA2136084618 | SOS2 | c.931A= (p.Lys311=) c.45A= c.751A= (p.Lys251=) c.892A= (p.Lys298=) n.954-3177T= | |
14 | g.50180611A>C | CA389646981 | SOS2 | c.930T>G (p.Asn310Lys) c.44T>G c.750T>G (p.Asn250Lys) c.891T>G (p.Asn297Lys) n.954-3176A>C | |
14 | g.50180611A>G | CA486169439 | SOS2 | c.930T>C (p.Asn310=) c.44T>C c.750T>C (p.Asn250=) c.891T>C (p.Asn297=) n.954-3176A>G | |
14 | g.50180611A>T | CA389646982 | SOS2 | c.930T>A (p.Asn310Lys) c.44T>A c.750T>A (p.Asn250Lys) c.891T>A (p.Asn297Lys) n.954-3176A>T | |
14 | g.50180612T>A | CA389646983 | SOS2 | c.929A>T (p.Asn310Ile) c.43A>T c.749A>T (p.Asn250Ile) c.890A>T (p.Asn297Ile) n.954-3175T>A | |
14 | g.50180612T>C | CA7177416 | SOS2 | c.929A>G (p.Asn310Ser) c.43A>G c.749A>G (p.Asn250Ser) c.890A>G (p.Asn297Ser) n.954-3175T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180612T>G | CA389646984 | SOS2 | c.929A>C (p.Asn310Thr) c.43A>C c.749A>C (p.Asn250Thr) c.890A>C (p.Asn297Thr) n.954-3175T>G | |
14 | g.50180612T= | CA2136084622 | SOS2 | c.929A= (p.Asn310=) c.43A= c.749A= (p.Asn250=) c.890A= (p.Asn297=) n.954-3175T= | |
14 | g.50180613T>A | CA389646985 | SOS2 | c.928A>T (p.Asn310Tyr) c.42A>T c.748A>T (p.Asn250Tyr) c.889A>T (p.Asn297Tyr) n.954-3174T>A | |
14 | g.50180613T>C | CA7177417 | SOS2 | c.928A>G (p.Asn310Asp) c.42A>G c.748A>G (p.Asn250Asp) c.889A>G (p.Asn297Asp) n.954-3174T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180613T>G | CA389646986 | SOS2 | c.928A>C (p.Asn310His) c.42A>C c.748A>C (p.Asn250His) c.889A>C (p.Asn297His) n.954-3174T>G | |
14 | g.50180613T= | CA2136084625 | SOS2 | c.928A= (p.Asn310=) c.42A= c.748A= (p.Asn250=) c.889A= (p.Asn297=) n.954-3174T= | |
14 | g.50180614G>A | CA486169460 | SOS2 | c.927C>T (p.Phe309=) c.41C>T c.747C>T (p.Phe249=) c.888C>T (p.Phe296=) n.954-3173G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180614G>C | CA389646987 | SOS2 | c.927C>G (p.Phe309Leu) c.41C>G c.747C>G (p.Phe249Leu) c.888C>G (p.Phe296Leu) n.954-3173G>C | gnomAD v4 |
14 | g.50180614G= | CA2136084629 | SOS2 | c.927C= (p.Phe309=) c.41C= c.747C= (p.Phe249=) c.888C= (p.Phe296=) n.954-3173G= | |
14 | g.50180614G>T | CA389646988 | SOS2 | c.927C>A (p.Phe309Leu) c.41C>A c.747C>A (p.Phe249Leu) c.888C>A (p.Phe296Leu) n.954-3173G>T | gnomAD v4 |
14 | g.50180615A>C | CA389646989 | SOS2 | c.926T>G (p.Phe309Cys) c.40T>G c.746T>G (p.Phe249Cys) c.887T>G (p.Phe296Cys) n.954-3172A>C | |
14 | g.50180615A>G | CA389646990 | SOS2 | c.926T>C (p.Phe309Ser) c.40T>C c.746T>C (p.Phe249Ser) c.887T>C (p.Phe296Ser) n.954-3172A>G | |
14 | g.50180615A>T | CA389646991 | SOS2 | c.926T>A (p.Phe309Tyr) c.40T>A c.746T>A (p.Phe249Tyr) c.887T>A (p.Phe296Tyr) n.954-3172A>T | |
14 | g.50180616A>C | CA389646992 | SOS2 | c.925T>G (p.Phe309Val) c.39T>G c.745T>G (p.Phe249Val) c.886T>G (p.Phe296Val) n.954-3171A>C | |
14 | g.50180616A>G | CA389646993 | SOS2 | c.925T>C (p.Phe309Leu) c.39T>C c.745T>C (p.Phe249Leu) c.886T>C (p.Phe296Leu) n.954-3171A>G | |
14 | g.50180616A>T | CA389646994 | SOS2 | c.925T>A (p.Phe309Ile) c.39T>A c.745T>A (p.Phe249Ile) c.886T>A (p.Phe296Ile) n.954-3171A>T | |
14 | g.50180617A>C | CA389646995 | SOS2 | c.924T>G (p.His308Gln) c.38T>G c.744T>G (p.His248Gln) c.885T>G (p.His295Gln) n.954-3170A>C | |
14 | g.50180617A>G | CA486169481 | SOS2 | c.924T>C (p.His308=) c.38T>C c.744T>C (p.His248=) c.885T>C (p.His295=) n.954-3170A>G | gnomAD v4 |
14 | g.50180617A>T | CA389646996 | SOS2 | c.924T>A (p.His308Gln) c.38T>A c.744T>A (p.His248Gln) c.885T>A (p.His295Gln) n.954-3170A>T | |
14 | g.50180618T>A | CA389646997 | SOS2 | c.923A>T (p.His308Leu) c.37A>T c.743A>T (p.His248Leu) c.884A>T (p.His295Leu) n.954-3169T>A | |
14 | g.50180618T>C | CA389646999 | SOS2 | c.923A>G (p.His308Arg) c.37A>G c.743A>G (p.His248Arg) c.884A>G (p.His295Arg) n.954-3169T>C | |
14 | g.50180618T>G | CA389646998 | SOS2 | c.923A>C (p.His308Pro) c.37A>C c.743A>C (p.His248Pro) c.884A>C (p.His295Pro) n.954-3169T>G | |
14 | g.50180619G>A | CA389647000 | SOS2 | c.922C>T (p.His308Tyr) c.36C>T c.742C>T (p.His248Tyr) c.883C>T (p.His295Tyr) n.954-3168G>A | |
14 | g.50180619G>C | CA389647001 | SOS2 | c.922C>G (p.His308Asp) c.36C>G c.742C>G (p.His248Asp) c.883C>G (p.His295Asp) n.954-3168G>C | |
14 | g.50180619G>T | CA389647002 | SOS2 | c.922C>A (p.His308Asn) c.36C>A c.742C>A (p.His248Asn) c.883C>A (p.His295Asn) n.954-3168G>T | |
14 | g.50180620T>A | CA389647003 | SOS2 | c.921A>T (p.Glu307Asp) c.35A>T c.741A>T (p.Glu247Asp) c.882A>T (p.Glu294Asp) n.954-3167T>A | |
14 | g.50180620T>C | CA7177418 | SOS2 | c.921A>G (p.Glu307=) c.35A>G c.741A>G (p.Glu247=) c.882A>G (p.Glu294=) n.954-3167T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50180620T>G | CA389647004 | SOS2 | c.921A>C (p.Glu307Asp) c.35A>C c.741A>C (p.Glu247Asp) c.882A>C (p.Glu294Asp) n.954-3167T>G | |
14 | g.50180620T= | CA2136084632 | SOS2 | c.921A= (p.Glu307=) c.35A= c.741A= (p.Glu247=) c.882A= (p.Glu294=) n.954-3167T= | |
14 | g.50180621T>A | CA260706687 | SOS2 | c.920A>T (p.Glu307Val) c.34A>T c.740A>T (p.Glu247Val) c.881A>T (p.Glu294Val) n.954-3166T>A | dbSNP |
14 | g.50180621T>C | CA389647005 | SOS2 | c.920A>G (p.Glu307Gly) c.34A>G c.740A>G (p.Glu247Gly) c.881A>G (p.Glu294Gly) n.954-3166T>C | |
14 | g.50180621T>G | CA389647006 | SOS2 | c.920A>C (p.Glu307Ala) c.34A>C c.740A>C (p.Glu247Ala) c.881A>C (p.Glu294Ala) n.954-3166T>G | |
14 | g.50180621T= | CA2136084634 | SOS2 | c.920A= (p.Glu307=) c.34A= c.740A= (p.Glu247=) c.881A= (p.Glu294=) n.954-3166T= | |
14 | g.50180622C>A | CA389647007 | SOS2 | c.919G>T (p.Glu307Ter) c.33G>T c.739G>T (p.Glu247Ter) c.880G>T (p.Glu294Ter) n.954-3165C>A | gnomAD v4 |
14 | g.50180622C= | CA2136084638 | SOS2 | c.919G= (p.Glu307=) c.33G= c.739G= (p.Glu247=) c.880G= (p.Glu294=) n.954-3165C= | |
14 | g.50180622C>G | CA389647008 | SOS2 | c.919G>C (p.Glu307Gln) c.33G>C c.739G>C (p.Glu247Gln) c.880G>C (p.Glu294Gln) n.954-3165C>G | |
14 | g.50180622C>T | CA260706701 | SOS2 | c.919G>A (p.Glu307Lys) c.33G>A c.739G>A (p.Glu247Lys) c.880G>A (p.Glu294Lys) n.954-3165C>T | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50180623A= | CA2136084640 | SOS2 | c.918T= (p.His306=) c.32T= c.738T= (p.His246=) c.879T= (p.His293=) n.954-3164A= | |
14 | g.50180623A>C | CA389647009 | SOS2 | c.918T>G (p.His306Gln) c.32T>G c.738T>G (p.His246Gln) c.879T>G (p.His293Gln) n.954-3164A>C | |
14 | g.50180623A>G | CA486169510 | SOS2 | c.918T>C (p.His306=) c.32T>C c.738T>C (p.His246=) c.879T>C (p.His293=) n.954-3164A>G | dbSNP |
14 | g.50180623A>T | CA389647010 | SOS2 | c.918T>A (p.His306Gln) c.32T>A c.738T>A (p.His246Gln) c.879T>A (p.His293Gln) n.954-3164A>T | |
14 | g.50180624T>A | CA389647011 | SOS2 | c.917A>T (p.His306Leu) c.31A>T c.737A>T (p.His246Leu) c.878A>T (p.His293Leu) n.954-3163T>A | |
14 | g.50180624T>C | CA7177419 | SOS2 | c.917A>G (p.His306Arg) c.31A>G c.737A>G (p.His246Arg) c.878A>G (p.His293Arg) n.954-3163T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50180624T>G | CA389647012 | SOS2 | c.917A>C (p.His306Pro) c.31A>C c.737A>C (p.His246Pro) c.878A>C (p.His293Pro) n.954-3163T>G | |
14 | g.50180624T= | CA2136084643 | SOS2 | c.917A= (p.His306=) c.31A= c.737A= (p.His246=) c.878A= (p.His293=) n.954-3163T= | |
14 | g.50180625G>A | CA389647013 | SOS2 | c.916C>T (p.His306Tyr) c.30C>T c.736C>T (p.His246Tyr) c.877C>T (p.His293Tyr) n.954-3162G>A | |
14 | g.50180625G>C | CA389647014 | SOS2 | c.916C>G (p.His306Asp) c.30C>G c.736C>G (p.His246Asp) c.877C>G (p.His293Asp) n.954-3162G>C | |
14 | g.50180625G>T | CA389647015 | SOS2 | c.916C>A (p.His306Asn) c.30C>A c.736C>A (p.His246Asn) c.877C>A (p.His293Asn) n.954-3162G>T | |
14 | g.50180626A>C | CA389647016 | SOS2 | c.915T>G (p.Phe305Leu) c.29T>G c.735T>G (p.Phe245Leu) c.876T>G (p.Phe292Leu) n.954-3161A>C | |
14 | g.50180626A>G | CA486169528 | SOS2 | c.915T>C (p.Phe305=) c.29T>C c.735T>C (p.Phe245=) c.876T>C (p.Phe292=) n.954-3161A>G | |
14 | g.50180626A>T | CA389647017 | SOS2 | c.915T>A (p.Phe305Leu) c.29T>A c.735T>A (p.Phe245Leu) c.876T>A (p.Phe292Leu) n.954-3161A>T | |
14 | g.50180627A>C | CA389647018 | SOS2 | c.914T>G (p.Phe305Cys) c.28T>G c.734T>G (p.Phe245Cys) c.875T>G (p.Phe292Cys) n.954-3160A>C | |
14 | g.50180627A>G | CA389647019 | SOS2 | c.914T>C (p.Phe305Ser) c.28T>C c.734T>C (p.Phe245Ser) c.875T>C (p.Phe292Ser) n.954-3160A>G | |
14 | g.50180627A>T | CA389647020 | SOS2 | c.914T>A (p.Phe305Tyr) c.28T>A c.734T>A (p.Phe245Tyr) c.875T>A (p.Phe292Tyr) n.954-3160A>T | |
14 | g.50180628A>C | CA389647021 | SOS2 | c.913T>G (p.Phe305Val) c.27T>G c.733T>G (p.Phe245Val) c.874T>G (p.Phe292Val) n.954-3159A>C | |
14 | g.50180628A>G | CA389647022 | SOS2 | c.913T>C (p.Phe305Leu) c.27T>C c.733T>C (p.Phe245Leu) c.874T>C (p.Phe292Leu) n.954-3159A>G | |
14 | g.50180628A>T | CA389647023 | SOS2 | c.913T>A (p.Phe305Ile) c.27T>A c.733T>A (p.Phe245Ile) c.874T>A (p.Phe292Ile) n.954-3159A>T | |
14 | g.50180629C>A | CA389647024 | SOS2 | c.912G>T (p.Glu304Asp) c.26G>T c.732G>T (p.Glu244Asp) c.873G>T (p.Glu291Asp) n.954-3158C>A | |
14 | g.50180629C>G | CA389647025 | SOS2 | c.912G>C (p.Glu304Asp) c.26G>C c.732G>C (p.Glu244Asp) c.873G>C (p.Glu291Asp) n.954-3158C>G | |
14 | g.50180629C>T | CA486169547 | SOS2 | c.912G>A (p.Glu304=) c.26G>A c.732G>A (p.Glu244=) c.873G>A (p.Glu291=) n.954-3158C>T |