Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.50627117_50627145del | CA2657593763 | ARSA | c.465+26_465+54del (n.465+26_465+54del) c.207+26_207+54del (n.207+26_207+54del) n.882_910del | gnomAD v4 |
22 | g.50627126G>A | CA640358568 | ARSA | c.465+40C>T (n.465+40C>T) c.207+40C>T (n.207+40C>T) n.896C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627126G= | CA2410959429 | ARSA | c.465+40C= (n.465+40C=) c.207+40C= (n.207+40C=) n.896C= | |
22 | g.50627126G>T | CA2839059651 | ARSA | c.465+40C>A (n.465+40C>A) c.207+40C>A (n.207+40C>A) n.896C>A | |
22 | g.50627128del | CA2839660352 | ARSA | c.465+40del (n.465+40del) c.207+40del (n.207+40del) n.896del | |
22 | g.50627127G>C | CA2842240952 | ARSA | c.465+39C>G (n.465+39C>G) c.207+39C>G (n.207+39C>G) n.895C>G | |
22 | g.50627128G>T | CA2657593778 | ARSA | c.465+38C>A (n.465+38C>A) c.207+38C>A (n.207+38C>A) n.894C>A | gnomAD v4 |
22 | g.50627129A>G | CA2577767856 | ARSA | c.465+37T>C (n.465+37T>C) c.207+37T>C (n.207+37T>C) n.893T>C | |
22 | g.50627129A>T | CA2819316602 | ARSA | c.465+37T>A (n.465+37T>A) c.207+37T>A (n.207+37T>A) n.893T>A | |
22 | g.50627130G>A | CA10325019 | ARSA | c.465+36C>T (n.465+36C>T) c.207+36C>T (n.207+36C>T) n.892C>T | dbSNP ExAC gnomAD v2 |
22 | g.50627130G= | CA2410959430 | ARSA | c.465+36C= (n.465+36C=) c.207+36C= (n.207+36C=) n.892C= | |
22 | g.50627131G>A | CA325531568 | ARSA | c.465+35C>T (n.465+35C>T) c.207+35C>T (n.207+35C>T) n.891C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627131G= | CA2410959431 | ARSA | c.465+35C= (n.465+35C=) c.207+35C= (n.207+35C=) n.891C= | |
22 | g.50627131G>T | CA2842240953 | ARSA | c.465+35C>A (n.465+35C>A) c.207+35C>A (n.207+35C>A) n.891C>A | |
22 | g.50627132T>A | CA325531569 | ARSA | c.465+34A>T (n.465+34A>T) c.207+34A>T (n.207+34A>T) n.890A>T | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627132T>C | CA2657593782 | ARSA | c.465+34A>G (n.465+34A>G) c.207+34A>G (n.207+34A>G) n.890A>G | gnomAD v4 |
22 | g.50627132T>G | CA657868357 | ARSA | c.465+34A>C (n.465+34A>C) c.207+34A>C (n.207+34A>C) n.890A>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627132T= | CA2410959432 | ARSA | c.465+34A= (n.465+34A=) c.207+34A= (n.207+34A=) n.890A= | |
22 | g.50627133G>C | CA754070121 | ARSA | c.465+33C>G (n.465+33C>G) c.207+33C>G (n.207+33C>G) n.889C>G | dbSNP gnomAD v4 |
22 | g.50627133G= | CA2410959433 | ARSA | c.465+33C= (n.465+33C=) c.207+33C= (n.207+33C=) n.889C= | |
22 | g.50627135del | CA2839059641 | ARSA | c.465+33del (n.465+33del) c.207+33del (n.207+33del) n.889del | |
22 | g.50627134G>A | CA2657593787 | ARSA | c.465+32C>T (n.465+32C>T) c.207+32C>T (n.207+32C>T) n.888C>T | gnomAD v4 |
22 | g.50627134G>T | CA2842240954 | ARSA | c.465+32C>A (n.465+32C>A) c.207+32C>A (n.207+32C>A) n.888C>A | |
22 | g.50627135G>A | CA10325020 | ARSA | c.465+31C>T (n.465+31C>T) c.207+31C>T (n.207+31C>T) n.887C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627135G= | CA2410959434 | ARSA | c.465+31C= (n.465+31C=) c.207+31C= (n.207+31C=) n.887C= | |
22 | g.50627135G>T | CA2657593790 | ARSA | c.465+31C>A (n.465+31C>A) c.207+31C>A (n.207+31C>A) n.887C>A | gnomAD v4 |
22 | g.50627137G>A | CA640358676 | ARSA | c.465+29C>T (n.465+29C>T) c.207+29C>T (n.207+29C>T) n.885C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627137G= | CA2410959435 | ARSA | c.465+29C= (n.465+29C=) c.207+29C= (n.207+29C=) n.885C= | |
22 | g.50627137G>T | CA2657593791 | ARSA | c.465+29C>A (n.465+29C>A) c.207+29C>A (n.207+29C>A) n.885C>A | gnomAD v4 |
22 | g.50627138G>A | CA2657593792 | ARSA | c.465+28C>T (n.465+28C>T) c.207+28C>T (n.207+28C>T) n.884C>T | gnomAD v4 |
22 | g.50627138G>C | CA2657593794 | ARSA | c.465+28C>G (n.465+28C>G) c.207+28C>G (n.207+28C>G) n.884C>G | gnomAD v4 |
22 | g.50627139G>C | CA2410959437 | ARSA | c.465+27C>G (n.465+27C>G) c.207+27C>G (n.207+27C>G) n.883C>G | dbSNP |
22 | g.50627139G= | CA2410959436 | ARSA | c.465+27C= (n.465+27C=) c.207+27C= (n.207+27C=) n.883C= | |
22 | g.50627140T>C | CA640358677 | ARSA | c.465+26A>G (n.465+26A>G) c.207+26A>G (n.207+26A>G) n.882A>G | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627140T>G | CA2410959439 | ARSA | c.465+26A>C (n.465+26A>C) c.207+26A>C (n.207+26A>C) n.882A>C | dbSNP |
22 | g.50627140T= | CA2410959438 | ARSA | c.465+26A= (n.465+26A=) c.207+26A= (n.207+26A=) n.882A= | |
22 | g.50627141G>A | CA657868369 | ARSA | c.465+25C>T (n.465+25C>T) c.207+25C>T (n.207+25C>T) n.881C>T | gnomAD v4 COSMIC |
22 | g.50627141G>T | CA2839660353 | ARSA | c.465+25C>A (n.465+25C>A) c.207+25C>A (n.207+25C>A) n.881C>A | |
22 | g.50627142G>A | CA10325021 | ARSA | c.465+24C>T (n.465+24C>T) c.207+24C>T (n.207+24C>T) n.880C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627142G= | CA2410959440 | ARSA | c.465+24C= (n.465+24C=) c.207+24C= (n.207+24C=) n.880C= | |
22 | g.50627143C>A | CA657868371 | ARSA | c.465+23G>T (n.465+23G>T) c.207+23G>T (n.207+23G>T) n.879G>T | COSMIC |
22 | g.50627143C= | CA2410959441 | ARSA | c.465+23G= (n.465+23G=) c.207+23G= (n.207+23G=) n.879G= | |
22 | g.50627143C>G | CA640358678 | ARSA | c.465+23G>C (n.465+23G>C) c.207+23G>C (n.207+23G>C) n.879G>C | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627145G>C | CA2819316606 | ARSA | c.465+21C>G (n.465+21C>G) c.207+21C>G (n.207+21C>G) n.877C>G | |
22 | g.50627145G>T | CA2657593799 | ARSA | c.465+21C>A (n.465+21C>A) c.207+21C>A (n.207+21C>A) n.877C>A | gnomAD v4 |
22 | g.50627146del | CA2657593800 | ARSA | c.465+20del (n.465+20del) c.207+20del (n.207+20del) n.876del | ClinVar gnomAD v4 |
22 | g.50627147G>A | CA640358679 | ARSA | c.465+19C>T (n.465+19C>T) c.207+19C>T (n.207+19C>T) n.875C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627147G= | CA2410959442 | ARSA | c.465+19C= (n.465+19C=) c.207+19C= (n.207+19C=) n.875C= | |
22 | g.50627149del | CA2657593804 | ARSA | c.465+19del (n.465+19del) c.207+19del (n.207+19del) n.875del | gnomAD v4 |
22 | g.50627148G>A | CA325531571 | ARSA | c.465+18C>T (n.465+18C>T) c.207+18C>T (n.207+18C>T) n.874C>T | dbSNP |
22 | g.50627148G= | CA2410959443 | ARSA | c.465+18C= (n.465+18C=) c.207+18C= (n.207+18C=) n.874C= | |
22 | g.50627148G>T | CA657868374 | ARSA | c.465+18C>A (n.465+18C>A) c.207+18C>A (n.207+18C>A) n.874C>A | gnomAD v4 COSMIC |
22 | g.50627148_50627149insA | CA2580099984 | ARSA | c.465+17_465+18insT (n.465+17_465+18insT) c.207+17_207+18insT (n.207+17_207+18insT) n.873_874insT | ClinVar gnomAD v4 |
22 | g.50627149G>A | CA2580099985 | ARSA | c.465+17C>T (n.465+17C>T) c.207+17C>T (n.207+17C>T) n.873C>T | ClinVar gnomAD v4 |
22 | g.50627150C>A | CA2697552822 | ARSA | c.465+16G>T (n.465+16G>T) c.207+16G>T (n.207+16G>T) n.872G>T | ClinVar |
22 | g.50627150C= | CA2410959444 | ARSA | c.465+16G= (n.465+16G=) c.207+16G= (n.207+16G=) n.872G= | |
22 | g.50627150C>T | CA640358680 | ARSA | c.465+16G>A (n.465+16G>A) c.207+16G>A (n.207+16G>A) n.872G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627152dup | CA2657593812 | ARSA | c.465+16dup (n.465+16dup) c.207+16dup (n.207+16dup) n.872dup | gnomAD v4 |
22 | g.50627151C= | CA2410959445 | ARSA | c.465+15G= (n.465+15G=) c.207+15G= (n.207+15G=) n.871G= | |
22 | g.50627151C>T | CA10325022 | ARSA | c.465+15G>A (n.465+15G>A) c.207+15G>A (n.207+15G>A) n.871G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627152C= | CA2410959446 | ARSA | c.465+14G= (n.465+14G=) c.207+14G= (n.207+14G=) n.870G= | |
22 | g.50627152C>T | CA10325023 | ARSA | c.465+14G>A (n.465+14G>A) c.207+14G>A (n.207+14G>A) n.870G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627152_50627153delinsCG | CA2410959447 | ARSA | c.465+13_465+14delinsCG (n.465+13_465+14delinsCG) c.207+13_207+14delinsCG (n.207+13_207+14delinsCG) n.869_870delinsCG | |
22 | g.50627153G>A | CA10325024 | ARSA | c.465+13C>T (n.465+13C>T) c.207+13C>T (n.207+13C>T) n.869C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627153G= | CA2410959448 | ARSA | c.465+13C= (n.465+13C=) c.207+13C= (n.207+13C=) n.869C= | |
22 | g.50627153G>T | CA10325025 | ARSA | c.465+13C>A (n.465+13C>A) c.207+13C>A (n.207+13C>A) n.869C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627155del | CA1026681238 | ARSA | c.465+13del (n.465+13del) c.207+13del (n.207+13del) n.869del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627154G>A | CA1026681244 | ARSA | c.465+12C>T (n.465+12C>T) c.207+12C>T (n.207+12C>T) n.868C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627154G= | CA2410959449 | ARSA | c.465+12C= (n.465+12C=) c.207+12C= (n.207+12C=) n.868C= | |
22 | g.50627155G>C | CA1026681249 | ARSA | c.465+11C>G (n.465+11C>G) c.207+11C>G (n.207+11C>G) n.867C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627155G= | CA2410959450 | ARSA | c.465+11C= (n.465+11C=) c.207+11C= (n.207+11C=) n.867C= | |
22 | g.50627156T>G | CA2410959452 | ARSA | c.465+10A>C (n.465+10A>C) c.207+10A>C (n.207+10A>C) n.866A>C | ClinVar dbSNP |
22 | g.50627156T= | CA2410959451 | ARSA | c.465+10A= (n.465+10A=) c.207+10A= (n.207+10A=) n.866A= | |
22 | g.50627156_50627157delinsTG | CA2410959453 | ARSA | c.465+9_465+10delinsCA (n.465+9_465+10delinsCA) c.207+9_207+10delinsCA (n.207+9_207+10delinsCA) n.865_866delinsCA | |
22 | g.50627157G>A | CA10325026 | ARSA | c.465+9C>T (n.465+9C>T) c.207+9C>T (n.207+9C>T) n.865C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627157G= | CA2410959454 | ARSA | c.465+9C= (n.465+9C=) c.207+9C= (n.207+9C=) n.865C= | |
22 | g.50627158del | CA1026681254 | ARSA | c.465+9del (n.465+9del) c.207+9del (n.207+9del) n.865del | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627158G>A | CA2573158320 | ARSA | c.465+8C>T (n.465+8C>T) c.207+8C>T (n.207+8C>T) n.864C>T | ClinVar dbSNP |
22 | g.50627158G>T | CA2573158319 | ARSA | c.465+8C>A (n.465+8C>A) c.207+8C>A (n.207+8C>A) n.864C>A | ClinVar dbSNP |
22 | g.50627159T>C | CA1026681256 | ARSA | c.465+7A>G (n.465+7A>G) c.207+7A>G (n.207+7A>G) n.863A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627159T>G | CA325531573 | ARSA | c.465+7A>C (n.465+7A>C) c.207+7A>C (n.207+7A>C) n.863A>C | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627159T= | CA2410959455 | ARSA | c.465+7A= (n.465+7A=) c.207+7A= (n.207+7A=) n.863A= | |
22 | g.50627160T>C | CA640358681 | ARSA | c.465+6A>G (n.465+6A>G) c.207+6A>G (n.207+6A>G) n.862A>G | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627160T= | CA2410959456 | ARSA | c.465+6A= (n.465+6A=) c.207+6A= (n.207+6A=) n.862A= | |
22 | g.50627161C>A | CA2657593828 | ARSA | c.465+5G>T (n.465+5G>T) c.207+5G>T (n.207+5G>T) n.861G>T | gnomAD v4 |
22 | g.50627161C= | CA2410959457 | ARSA | c.465+5G= (n.465+5G=) c.207+5G= (n.207+5G=) n.861G= | |
22 | g.50627161C>G | CA2410959458 | ARSA | c.465+5G>C (n.465+5G>C) c.207+5G>C (n.207+5G>C) n.861G>C | dbSNP gnomAD v4 |
22 | g.50627161C>T | CA10325027 | ARSA | c.465+5G>A (n.465+5G>A) c.207+5G>A (n.207+5G>A) n.861G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627162C= | CA2410959459 | ARSA | c.465+4G= (n.465+4G=) c.207+4G= (n.207+4G=) n.860G= | |
22 | g.50627162C>T | CA10325028 | ARSA | c.465+4G>A (n.465+4G>A) c.207+4G>A (n.207+4G>A) n.860G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627163T>C | CA2410959461 | ARSA | c.465+3A>G (n.465+3A>G) c.207+3A>G (n.207+3A>G) n.859A>G | ClinVar dbSNP |
22 | g.50627163T= | CA2410959460 | ARSA | c.465+3A= (n.465+3A=) c.207+3A= (n.207+3A=) n.859A= | |
22 | g.50627164A= | CA2410959462 | ARSA | c.465+2T= (n.465+2T=) c.207+2T= (n.207+2T=) n.858T= | |
22 | g.50627164A>C | CA412179885 | ARSA | c.465+2T>G (n.465+2T>G) c.207+2T>G (n.207+2T>G) n.858T>G | |
22 | g.50627164A>G | CA412179888 | ARSA | c.465+2T>C (n.465+2T>C) c.207+2T>C (n.207+2T>C) n.858T>C | |
22 | g.50627164A>T | CA412179890 | ARSA | c.465+2T>A (n.465+2T>A) c.207+2T>A (n.207+2T>A) n.858T>A | ClinVar dbSNP |
22 | g.50627165C>A | CA412179894 | ARSA | c.465+1G>T (n.465+1G>T) c.207+1G>T (n.207+1G>T) n.857G>T | |
22 | g.50627165C= | CA2410959463 | ARSA | c.465+1G= (n.465+1G=) c.207+1G= (n.207+1G=) n.857G= | |
22 | g.50627165C>G | CA412179895 | ARSA | c.465+1G>C (n.465+1G>C) c.207+1G>C (n.207+1G>C) n.857G>C | |
22 | g.50627165C>T | CA215122 | ARSA | c.465+1G>A (n.465+1G>A) c.207+1G>A (n.207+1G>A) n.857G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627166C>A | CA412179897 | ARSA | c.465G>T (p.Gln155His) c.207G>T (p.Gln69His) n.856G>T | |
22 | g.50627166C= | CA2410959464 | ARSA | c.465G= (p.Gln155=) c.207G= (p.Gln69=) n.856G= | |
22 | g.50627166C>G | CA219028 | ARSA | c.465G>C (p.Gln155His) c.207G>C (p.Gln69His) n.856G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627166C>T | CA233477 | ARSA | c.465G>A (p.Gln155=) c.207G>A (p.Gln69=) n.856G>A | ClinVar dbSNP |
22 | g.50627167T>A | CA412179923 | ARSA | c.464A>T (p.Gln155Leu) c.206A>T (p.Gln69Leu) n.855A>T | |
22 | g.50627167T>C | CA412179917 | ARSA | c.464A>G (p.Gln155Arg) c.206A>G (p.Gln69Arg) n.855A>G | gnomAD v4 |
22 | g.50627167T>G | CA412179915 | ARSA | c.464A>C (p.Gln155Pro) c.206A>C (p.Gln69Pro) n.855A>C | |
22 | g.50627168G>A | CA412179928 | ARSA | c.463C>T (p.Gln155Ter) c.205C>T (p.Gln69Ter) n.854C>T | |
22 | g.50627168G>C | CA412179930 | ARSA | c.463C>G (p.Gln155Glu) c.205C>G (p.Gln69Glu) n.854C>G | |
22 | g.50627168G>T | CA412179933 | ARSA | c.463C>A (p.Gln155Lys) c.205C>A (p.Gln69Lys) n.854C>A | |
22 | g.50627169G>A | CA10325029 | ARSA | c.462C>T (p.Asp154=) c.204C>T (p.Asp68=) n.853C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627169G>C | CA412179940 | ARSA | c.462C>G (p.Asp154Glu) c.204C>G (p.Asp68Glu) n.853C>G | |
22 | g.50627169G= | CA2410959465 | ARSA | c.462C= (p.Asp154=) c.204C= (p.Asp68=) n.853C= | |
22 | g.50627169G>T | CA412179942 | ARSA | c.462C>A (p.Asp154Glu) c.204C>A (p.Asp68Glu) n.853C>A | |
22 | g.50627170T>A | CA412179947 | ARSA | c.461A>T (p.Asp154Val) c.203A>T (p.Asp68Val) n.852A>T | |
22 | g.50627170T>C | CA412179951 | ARSA | c.461A>G (p.Asp154Gly) c.203A>G (p.Asp68Gly) n.852A>G | |
22 | g.50627170T>G | CA412179953 | ARSA | c.461A>C (p.Asp154Ala) c.203A>C (p.Asp68Ala) n.852A>C | |
22 | g.50627171C>A | CA219026 | ARSA | c.460G>T (p.Asp154Tyr) c.202G>T (p.Asp68Tyr) n.851G>T | ClinVar dbSNP |
22 | g.50627171C= | CA2410959466 | ARSA | c.460G= (p.Asp154=) c.202G= (p.Asp68=) n.851G= | |
22 | g.50627171C>G | CA10325030 | ARSA | c.460G>C (p.Asp154His) c.202G>C (p.Asp68His) n.851G>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.50627171C>T | CA412179968 | ARSA | c.460G>A (p.Asp154Asn) c.202G>A (p.Asp68Asn) n.851G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627172G>A | CA146673 | ARSA | c.459C>T (p.His153=) c.201C>T (p.His67=) n.850C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627172G>C | CA412179975 | ARSA | c.459C>G (p.His153Gln) c.201C>G (p.His67Gln) n.850C>G | |
22 | g.50627172G= | CA2410959467 | ARSA | c.459C= (p.His153=) c.201C= (p.His67=) n.850C= | |
22 | g.50627172G>T | CA412179971 | ARSA | c.459C>A (p.His153Gln) c.201C>A (p.His67Gln) n.850C>A | |
22 | g.50627173T>A | CA412179982 | ARSA | c.458A>T (p.His153Leu) c.200A>T (p.His67Leu) n.849A>T | |
22 | g.50627173T>C | CA412179986 | ARSA | c.458A>G (p.His153Arg) c.200A>G (p.His67Arg) n.849A>G | dbSNP |
22 | g.50627173T>G | CA412179984 | ARSA | c.458A>C (p.His153Pro) c.200A>C (p.His67Pro) n.849A>C | |
22 | g.50627173T= | CA2410959468 | ARSA | c.458A= (p.His153=) c.200A= (p.His67=) n.849A= | |
22 | g.50627174G>A | CA412179992 | ARSA | c.457C>T (p.His153Tyr) c.199C>T (p.His67Tyr) n.848C>T | COSMIC |
22 | g.50627174G>C | CA412179997 | ARSA | c.457C>G (p.His153Asp) c.199C>G (p.His67Asp) n.848C>G | |
22 | g.50627174G>T | CA412179994 | ARSA | c.457C>A (p.His153Asn) c.199C>A (p.His67Asn) n.848C>A | |
22 | g.50627175G>A | CA515391324 | ARSA | c.456C>T (p.Ser152=) c.198C>T (p.Ser66=) n.847C>T | dbSNP gnomAD v2 |
22 | g.50627175G>C | CA515391326 | ARSA | c.456C>G (p.Ser152=) c.198C>G (p.Ser66=) n.847C>G | |
22 | g.50627175G= | CA2410959469 | ARSA | c.456C= (p.Ser152=) c.198C= (p.Ser66=) n.847C= | |
22 | g.50627175G>T | CA515391328 | ARSA | c.456C>A (p.Ser152=) c.198C>A (p.Ser66=) n.847C>A | |
22 | g.50627176G>A | CA412180002 | ARSA | c.455C>T (p.Ser152Phe) c.197C>T (p.Ser66Phe) n.846C>T | gnomAD v4 |
22 | g.50627176G>C | CA412180009 | ARSA | c.455C>G (p.Ser152Cys) c.197C>G (p.Ser66Cys) n.846C>G | ClinVar |
22 | g.50627176G>T | CA412180013 | ARSA | c.455C>A (p.Ser152Tyr) c.197C>A (p.Ser66Tyr) n.846C>A | |
22 | g.50627177A= | CA2410959470 | ARSA | c.454T= (p.Ser152=) c.196T= (p.Ser66=) n.845T= | |
22 | g.50627177A>C | CA412180019 | ARSA | c.454T>G (p.Ser152Ala) c.196T>G (p.Ser66Ala) n.845T>G | |
22 | g.50627177A>G | CA412180025 | ARSA | c.454T>C (p.Ser152Pro) c.196T>C (p.Ser66Pro) n.845T>C | ClinVar |
22 | g.50627177A>T | CA10325031 | ARSA | c.454T>A (p.Ser152Thr) c.196T>A (p.Ser66Thr) n.845T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627178G>A | CA515391337 | ARSA | c.453C>T (p.Tyr151=) c.195C>T (p.Tyr65=) n.844C>T | |
22 | g.50627178G>C | CA412180035 | ARSA | c.453C>G (p.Tyr151Ter) c.195C>G (p.Tyr65Ter) n.844C>G | dbSNP |
22 | g.50627178G= | CA2410959471 | ARSA | c.453C= (p.Tyr151=) c.195C= (p.Tyr65=) n.844C= | |
22 | g.50627178G>T | CA412180032 | ARSA | c.453C>A (p.Tyr151Ter) c.195C>A (p.Tyr65Ter) n.844C>A | |
22 | g.50627179T>A | CA412180039 | ARSA | c.452A>T (p.Tyr151Phe) c.194A>T (p.Tyr65Phe) n.843A>T | |
22 | g.50627179T>C | CA412180043 | ARSA | c.452A>G (p.Tyr151Cys) c.194A>G (p.Tyr65Cys) n.843A>G | |
22 | g.50627179T>G | CA412180046 | ARSA | c.452A>C (p.Tyr151Ser) c.194A>C (p.Tyr65Ser) n.843A>C | |
22 | g.50627179T= | CA2410959472 | ARSA | c.452A= (p.Tyr151=) c.194A= (p.Tyr65=) n.843A= | |
22 | g.50627180A>C | CA412180051 | ARSA | c.451T>G (p.Tyr151Asp) c.193T>G (p.Tyr65Asp) n.842T>G | |
22 | g.50627180A>G | CA412180055 | ARSA | c.451T>C (p.Tyr151His) c.193T>C (p.Tyr65His) n.842T>C | |
22 | g.50627180A>T | CA412180057 | ARSA | c.451T>A (p.Tyr151Asn) c.193T>A (p.Tyr65Asn) n.842T>A | |
22 | g.50627180dup | CA1139667181 | ARSA | c.451dup (p.Tyr151LeufsTer25) c.193dup (p.Tyr65LeufsTer25) n.842dup | ClinVar dbSNP |
22 | g.50627181C>A | CA515391351 | ARSA | c.450G>T (p.Pro150=) c.192G>T (p.Pro64=) n.841G>T | |
22 | g.50627181C= | CA2410959473 | ARSA | c.450G= (p.Pro150=) c.192G= (p.Pro64=) n.841G= | |
22 | g.50627181C>G | CA515391352 | ARSA | c.450G>C (p.Pro150=) c.192G>C (p.Pro64=) n.841G>C | |
22 | g.50627181C>T | CA515391353 | ARSA | c.450G>A (p.Pro150=) c.192G>A (p.Pro64=) n.841G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50627182G>A | CA219024 | ARSA | c.449C>T (p.Pro150Leu) c.191C>T (p.Pro64Leu) n.840C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627182G>C | CA412180061 | ARSA | c.449C>G (p.Pro150Arg) c.191C>G (p.Pro64Arg) n.840C>G | ClinVar dbSNP |
22 | g.50627182G= | CA2410959474 | ARSA | c.449C= (p.Pro150=) c.191C= (p.Pro64=) n.840C= | |
22 | g.50627182G>T | CA412180064 | ARSA | c.449C>A (p.Pro150Gln) c.191C>A (p.Pro64Gln) n.840C>A | gnomAD v4 |
22 | g.50627182_50627183delinsAA | CA645612061 | ARSA | c.448_449delinsTT (p.Pro150Leu) c.190_191delinsTT (p.Pro64Leu) n.839_840delinsTT | COSMIC |
22 | g.50627183G>A | CA412180070 | ARSA | c.448C>T (p.Pro150Ser) c.190C>T (p.Pro64Ser) n.839C>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627183G>C | CA412180073 | ARSA | c.448C>G (p.Pro150Ala) c.190C>G (p.Pro64Ala) n.839C>G | |
22 | g.50627183G= | CA2410959475 | ARSA | c.448C= (p.Pro150=) c.190C= (p.Pro64=) n.839C= | |
22 | g.50627183G>T | CA412180076 | ARSA | c.448C>A (p.Pro150Thr) c.190C>A (p.Pro64Thr) n.839C>A | |
22 | g.50627184G>A | CA515391357 | ARSA | c.447C>T (p.Ile149=) c.189C>T (p.Ile63=) n.838C>T | |
22 | g.50627184G>C | CA412180080 | ARSA | c.447C>G (p.Ile149Met) c.189C>G (p.Ile63Met) n.838C>G | |
22 | g.50627184G>T | CA515391359 | ARSA | c.447C>A (p.Ile149=) c.189C>A (p.Ile63=) n.838C>A | |
22 | g.50627185A= | CA2410959476 | ARSA | c.446T= (p.Ile149=) c.188T= (p.Ile63=) n.837T= | |
22 | g.50627185A>C | CA412180085 | ARSA | c.446T>G (p.Ile149Ser) c.188T>G (p.Ile63Ser) n.837T>G | |
22 | g.50627185A>G | CA412180088 | ARSA | c.446T>C (p.Ile149Thr) c.188T>C (p.Ile63Thr) n.837T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627185A>T | CA412180091 | ARSA | c.446T>A (p.Ile149Asn) c.188T>A (p.Ile63Asn) n.837T>A | |
22 | g.50627186T>A | CA412180096 | ARSA | c.445A>T (p.Ile149Phe) c.187A>T (p.Ile63Phe) n.836A>T | |
22 | g.50627186T>C | CA412180099 | ARSA | c.445A>G (p.Ile149Val) c.187A>G (p.Ile63Val) n.836A>G | |
22 | g.50627186T>G | CA412180101 | ARSA | c.445A>C (p.Ile149Leu) c.187A>C (p.Ile63Leu) n.836A>C | |
22 | g.50627187G>A | CA515391365 | ARSA | c.444C>T (p.Gly148=) c.186C>T (p.Gly62=) n.835C>T | |
22 | g.50627187G>C | CA515391366 | ARSA | c.444C>G (p.Gly148=) c.186C>G (p.Gly62=) n.835C>G | |
22 | g.50627187G>T | CA515391368 | ARSA | c.444C>A (p.Gly148=) c.186C>A (p.Gly62=) n.835C>A | |
22 | g.50627188C>A | CA412180105 | ARSA | c.443G>T (p.Gly148Val) c.185G>T (p.Gly62Val) n.834G>T | |
22 | g.50627188C>G | CA412180109 | ARSA | c.443G>C (p.Gly148Ala) c.185G>C (p.Gly62Ala) n.834G>C | |
22 | g.50627188C>T | CA412180112 | ARSA | c.443G>A (p.Gly148Asp) c.185G>A (p.Gly62Asp) n.834G>A | |
22 | g.50627189C>A | CA412180116 | ARSA | c.442G>T (p.Gly148Cys) c.184G>T (p.Gly62Cys) n.833G>T | |
22 | g.50627189C= | CA2410959477 | ARSA | c.442G= (p.Gly148=) c.184G= (p.Gly62=) n.833G= | |
22 | g.50627189C>G | CA412180122 | ARSA | c.442G>C (p.Gly148Arg) c.184G>C (p.Gly62Arg) n.833G>C | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627189C>T | CA412180119 | ARSA | c.442G>A (p.Gly148Ser) c.184G>A (p.Gly62Ser) n.833G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627190T>A | CA515391374 | ARSA | c.441A>T (p.Leu147=) c.183A>T (p.Leu61=) n.832A>T | |
22 | g.50627190T>C | CA515391375 | ARSA | c.441A>G (p.Leu147=) c.183A>G (p.Leu61=) n.832A>G | gnomAD v4 |
22 | g.50627190T>G | CA515391376 | ARSA | c.441A>C (p.Leu147=) c.183A>C (p.Leu61=) n.832A>C | |
22 | g.50627191A>C | CA412180124 | ARSA | c.440T>G (p.Leu147Arg) c.182T>G (p.Leu61Arg) n.831T>G | |
22 | g.50627191A>G | CA412180126 | ARSA | c.440T>C (p.Leu147Pro) c.182T>C (p.Leu61Pro) n.831T>C | |
22 | g.50627191A>T | CA412180127 | ARSA | c.440T>A (p.Leu147Gln) c.182T>A (p.Leu61Gln) n.831T>A | |
22 | g.50627192G>A | CA515391382 | ARSA | c.439C>T (p.Leu147=) c.181C>T (p.Leu61=) n.830C>T | |
22 | g.50627192G>C | CA412180130 | ARSA | c.439C>G (p.Leu147Val) c.181C>G (p.Leu61Val) n.830C>G | |
22 | g.50627192G>T | CA412180132 | ARSA | c.439C>A (p.Leu147Ile) c.181C>A (p.Leu61Ile) n.830C>A | |
22 | g.50627193A>C | CA412180136 | ARSA | c.438T>G (p.Phe146Leu) c.180T>G (p.Phe60Leu) n.829T>G | |
22 | g.50627193A>G | CA515391386 | ARSA | c.438T>C (p.Phe146=) c.180T>C (p.Phe60=) n.829T>C | |
22 | g.50627193A>T | CA412180139 | ARSA | c.438T>A (p.Phe146Leu) c.180T>A (p.Phe60Leu) n.829T>A | |
22 | g.50627194A= | CA2410959478 | ARSA | c.437T= (p.Phe146=) c.179T= (p.Phe60=) n.828T= | |
22 | g.50627194A>C | CA412180145 | ARSA | c.437T>G (p.Phe146Cys) c.179T>G (p.Phe60Cys) n.828T>G | |
22 | g.50627194A>G | CA412180147 | ARSA | c.437T>C (p.Phe146Ser) c.179T>C (p.Phe60Ser) n.828T>C | |
22 | g.50627194A>T | CA412180150 | ARSA | c.437T>A (p.Phe146Tyr) c.179T>A (p.Phe60Tyr) n.828T>A | dbSNP |
22 | g.50627195A= | CA2410959479 | ARSA | c.436T= (p.Phe146=) c.178T= (p.Phe60=) n.827T= | |
22 | g.50627195A>C | CA412180155 | ARSA | c.436T>G (p.Phe146Val) c.178T>G (p.Phe60Val) n.827T>G | |
22 | g.50627195A>G | CA10325032 | ARSA | c.436T>C (p.Phe146Leu) c.178T>C (p.Phe60Leu) n.827T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627195A>T | CA412180161 | ARSA | c.436T>A (p.Phe146Ile) c.178T>A (p.Phe60Ile) n.827T>A | |
22 | g.50627196T>A | CA515391390 | ARSA | c.435A>T (p.Arg145=) c.177A>T (p.Arg59=) n.826A>T | |
22 | g.50627196T>C | CA515391391 | ARSA | c.435A>G (p.Arg145=) c.177A>G (p.Arg59=) n.826A>G | |
22 | g.50627196T>G | CA515391392 | ARSA | c.435A>C (p.Arg145=) c.177A>C (p.Arg59=) n.826A>C | |
22 | g.50627197C>A | CA412180165 | ARSA | c.434G>T (p.Arg145Leu) c.176G>T (p.Arg59Leu) n.825G>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627197C= | CA2410959480 | ARSA | c.434G= (p.Arg145=) c.176G= (p.Arg59=) n.825G= | |
22 | g.50627197C>G | CA412180172 | ARSA | c.434G>C (p.Arg145Pro) c.176G>C (p.Arg59Pro) n.825G>C | gnomAD v4 |
22 | g.50627197C>T | CA10325033 | ARSA | c.434G>A (p.Arg145Gln) c.176G>A (p.Arg59Gln) n.825G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627198G>A | CA412180174 | ARSA | c.433C>T (p.Arg145Ter) c.175C>T (p.Arg59Ter) n.824C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627198G>C | CA219022 | ARSA | c.433C>G (p.Arg145Gly) c.175C>G (p.Arg59Gly) n.824C>G | ClinVar dbSNP gnomAD v4 |
22 | g.50627198G= | CA2410959481 | ARSA | c.433C= (p.Arg145=) c.175C= (p.Arg59=) n.824C= | |
22 | g.50627198G>T | CA515391398 | ARSA | c.433C>A (p.Arg145=) c.175C>A (p.Arg59=) n.824C>A | |
22 | g.50627199A>C | CA412180177 | ARSA | c.432T>G (p.His144Gln) c.174T>G (p.His58Gln) n.823T>G | |
22 | g.50627199A>G | CA515391401 | ARSA | c.432T>C (p.His144=) c.174T>C (p.His58=) n.823T>C | |
22 | g.50627199A>T | CA412180179 | ARSA | c.432T>A (p.His144Gln) c.174T>A (p.His58Gln) n.823T>A | |
22 | g.50627200T>A | CA412180181 | ARSA | c.431A>T (p.His144Leu) c.173A>T (p.His58Leu) n.822A>T | |
22 | g.50627200T>C | CA412180182 | ARSA | c.431A>G (p.His144Arg) c.173A>G (p.His58Arg) n.822A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627200T>G | CA412180184 | ARSA | c.431A>C (p.His144Pro) c.173A>C (p.His58Pro) n.822A>C | dbSNP gnomAD v4 |
22 | g.50627200T= | CA2410959482 | ARSA | c.431A= (p.His144=) c.173A= (p.His58=) n.822A= | |
22 | g.50627201G>A | CA412180186 | ARSA | c.430C>T (p.His144Tyr) c.172C>T (p.His58Tyr) n.821C>T | gnomAD v4 |
22 | g.50627201G>C | CA412180188 | ARSA | c.430C>G (p.His144Asp) c.172C>G (p.His58Asp) n.821C>G | |
22 | g.50627201G>T | CA412180190 | ARSA | c.430C>A (p.His144Asn) c.172C>A (p.His58Asn) n.821C>A | |
22 | g.50627202G>A | CA10325034 | ARSA | c.429C>T (p.Phe143=) c.171C>T (p.Phe57=) n.820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627202G>C | CA412180195 | ARSA | c.429C>G (p.Phe143Leu) c.171C>G (p.Phe57Leu) n.820C>G | |
22 | g.50627202G= | CA2410959483 | ARSA | c.429C= (p.Phe143=) c.171C= (p.Phe57=) n.820C= | |
22 | g.50627202G>T | CA412180192 | ARSA | c.429C>A (p.Phe143Leu) c.171C>A (p.Phe57Leu) n.820C>A | |
22 | g.50627203A= | CA2410959484 | ARSA | c.428T= (p.Phe143=) c.170T= (p.Phe57=) n.819T= | |
22 | g.50627203A>C | CA412180202 | ARSA | c.428T>G (p.Phe143Cys) c.170T>G (p.Phe57Cys) n.819T>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627203A>G | CA412180212 | ARSA | c.428T>C (p.Phe143Ser) c.170T>C (p.Phe57Ser) n.819T>C | |
22 | g.50627203A>T | CA412180205 | ARSA | c.428T>A (p.Phe143Tyr) c.170T>A (p.Phe57Tyr) n.819T>A | |
22 | g.50627204A>C | CA412180217 | ARSA | c.427T>G (p.Phe143Val) c.169T>G (p.Phe57Val) n.818T>G | |
22 | g.50627204A>G | CA412180220 | ARSA | c.427T>C (p.Phe143Leu) c.169T>C (p.Phe57Leu) n.818T>C | ClinVar |
22 | g.50627204A>T | CA412180225 | ARSA | c.427T>A (p.Phe143Ile) c.169T>A (p.Phe57Ile) n.818T>A | |
22 | g.50627205G>A | CA515391409 | ARSA | c.426C>T (p.Gly142=) c.168C>T (p.Gly56=) n.817C>T | |
22 | g.50627205G>C | CA515391410 | ARSA | c.426C>G (p.Gly142=) c.168C>G (p.Gly56=) n.817C>G | |
22 | g.50627205G>T | CA515391408 | ARSA | c.426C>A (p.Gly142=) c.168C>A (p.Gly56=) n.817C>A | |
22 | g.50627206C>A | CA412180229 | ARSA | c.425G>T (p.Gly142Val) c.167G>T (p.Gly56Val) n.816G>T | |
22 | g.50627206C>G | CA412180235 | ARSA | c.425G>C (p.Gly142Ala) c.167G>C (p.Gly56Ala) n.816G>C | |
22 | g.50627206C>T | CA412180240 | ARSA | c.425G>A (p.Gly142Asp) c.167G>A (p.Gly56Asp) n.816G>A | |
22 | g.50627209_50627241del | CA2573158321 | ARSA | c.393_425del (p.Pro132_Gly142del) c.135_167del (p.Pro46_Gly56del) n.784_816del | ClinVar dbSNP |
22 | g.50627207C>A | CA412180247 | ARSA | c.424G>T (p.Gly142Cys) c.166G>T (p.Gly56Cys) n.815G>T | |
22 | g.50627207C>G | CA412180250 | ARSA | c.424G>C (p.Gly142Arg) c.166G>C (p.Gly56Arg) n.815G>C | |
22 | g.50627207C>T | CA412180257 | ARSA | c.424G>A (p.Gly142Ser) c.166G>A (p.Gly56Ser) n.815G>A | ClinVar dbSNP |
22 | g.50627208C>A | CA412180261 | ARSA | c.423G>T (p.Gln141His) c.165G>T (p.Gln55His) n.814G>T | |
22 | g.50627208C>G | CA412180265 | ARSA | c.423G>C (p.Gln141His) c.165G>C (p.Gln55His) n.814G>C | |
22 | g.50627208C>T | CA515391415 | ARSA | c.423G>A (p.Gln141=) c.165G>A (p.Gln55=) n.814G>A | gnomAD v4 COSMIC |
22 | g.50627209del | CA2580099989 | ARSA | c.422del (p.Gln141ArgfsTer7) c.164del (p.Gln55ArgfsTer7) n.813del | ClinVar |
22 | g.50627209T>A | CA412180271 | ARSA | c.422A>T (p.Gln141Leu) c.164A>T (p.Gln55Leu) n.813A>T | |
22 | g.50627209T>C | CA412180276 | ARSA | c.422A>G (p.Gln141Arg) c.164A>G (p.Gln55Arg) n.813A>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627209T>G | CA412180273 | ARSA | c.422A>C (p.Gln141Pro) c.164A>C (p.Gln55Pro) n.813A>C | |
22 | g.50627209T= | CA2410959485 | ARSA | c.422A= (p.Gln141=) c.164A= (p.Gln55=) n.813A= | |
22 | g.50627210G>A | CA16042044 | ARSA | c.421C>T (p.Gln141Ter) c.163C>T (p.Gln55Ter) n.812C>T | ClinVar dbSNP |
22 | g.50627210G>C | CA412180284 | ARSA | c.421C>G (p.Gln141Glu) c.163C>G (p.Gln55Glu) n.812C>G | |
22 | g.50627210G= | CA2410959486 | ARSA | c.421C= (p.Gln141=) c.163C= (p.Gln55=) n.812C= | |
22 | g.50627210G>T | CA412180289 | ARSA | c.421C>A (p.Gln141Lys) c.163C>A (p.Gln55Lys) n.812C>A | |
22 | g.50627211A>C | CA412180295 | ARSA | c.420T>G (p.His140Gln) c.162T>G (p.His54Gln) n.811T>G | |
22 | g.50627211A>G | CA515391416 | ARSA | c.420T>C (p.His140=) c.162T>C (p.His54=) n.811T>C | |
22 | g.50627211A>T | CA412180306 | ARSA | c.420T>A (p.His140Gln) c.162T>A (p.His54Gln) n.811T>A | |
22 | g.50627211_50627212insG | CA645612062 | ARSA | c.419_420insC (p.Gln141SerfsTer?) c.161_162insC (p.Gln55SerfsTer?) n.810_811insC | COSMIC |
22 | g.50627212T>A | CA412180308 | ARSA | c.419A>T (p.His140Leu) c.161A>T (p.His54Leu) n.810A>T | ClinVar dbSNP gnomAD v4 |
22 | g.50627212T>C | CA412180312 | ARSA | c.419A>G (p.His140Arg) c.161A>G (p.His54Arg) n.810A>G | |
22 | g.50627212T>G | CA412180316 | ARSA | c.419A>C (p.His140Pro) c.161A>C (p.His54Pro) n.810A>C | |
22 | g.50627212T= | CA1139532175 | ARSA | c.419A= (p.His140=) c.161A= (p.His54=) n.810A= | |
22 | g.50627212_50627213delinsTG | CA2410959487 | ARSA | c.418_419delinsCA (p.His140=) c.160_161delinsCA (p.His54=) n.809_810delinsCA | |
22 | g.50627213G>A | CA10325037 | ARSA | c.418C>T (p.His140Tyr) c.160C>T (p.His54Tyr) n.809C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627213G>C | CA219020 | ARSA | c.418C>G (p.His140Asp) c.160C>G (p.His54Asp) n.809C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627213G= | CA2410959488 | ARSA | c.418C= (p.His140=) c.160C= (p.His54=) n.809C= | |
22 | g.50627213G>T | CA412180330 | ARSA | c.418C>A (p.His140Asn) c.160C>A (p.His54Asn) n.809C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627219dup | CA10325035 | ARSA | c.418dup (p.His140ProfsTer?) c.160dup (p.His54ProfsTer?) n.809dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.50627218_50627219dup | CA2819314707 | ARSA | c.417_418dup (p.His140ProfsTer9) c.159_160dup (p.His54ProfsTer9) n.808_809dup | |
22 | g.50627219del | CA10325036 | ARSA | c.418del (p.His140IlefsTer8) c.160del (p.His54IlefsTer8) n.809del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
22 | g.50627217_50627219del | CA2695231030 | ARSA | c.416_418del (p.Pro139del) c.158_160del (p.Pro53del) n.807_809del | |
22 | g.50627214G>A | CA10325038 | ARSA | c.417C>T (p.Pro139=) c.159C>T (p.Pro53=) n.808C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627214G>C | CA10325039 | ARSA | c.417C>G (p.Pro139=) c.159C>G (p.Pro53=) n.808C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627214G= | CA2410959489 | ARSA | c.417C= (p.Pro139=) c.159C= (p.Pro53=) n.808C= | |
22 | g.50627214G>T | CA515391419 | ARSA | c.417C>A (p.Pro139=) c.159C>A (p.Pro53=) n.808C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627215G>A | CA412180359 | ARSA | c.416C>T (p.Pro139Leu) c.158C>T (p.Pro53Leu) n.807C>T | dbSNP gnomAD v2 gnomAD v4 |
22 | g.50627215G>C | CA412180363 | ARSA | c.416C>G (p.Pro139Arg) c.158C>G (p.Pro53Arg) n.807C>G | dbSNP gnomAD v3 gnomAD v4 |
22 | g.50627215G= | CA2410959490 | ARSA | c.416C= (p.Pro139=) c.158C= (p.Pro53=) n.807C= | |
22 | g.50627215G>T | CA412180373 | ARSA | c.416C>A (p.Pro139His) c.158C>A (p.Pro53His) n.807C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627216G>A | CA412180374 | ARSA | c.415C>T (p.Pro139Ser) c.157C>T (p.Pro53Ser) n.806C>T | gnomAD v4 COSMIC |
22 | g.50627216G>C | CA412180375 | ARSA | c.415C>G (p.Pro139Ala) c.157C>G (p.Pro53Ala) n.806C>G | |
22 | g.50627216G>T | CA412180377 | ARSA | c.415C>A (p.Pro139Thr) c.157C>A (p.Pro53Thr) n.806C>A | |
22 | g.50627217G>A | CA515391421 | ARSA | c.414C>T (p.Pro138=) c.156C>T (p.Pro52=) n.805C>T | ClinVar dbSNP COSMIC |
22 | g.50627217G>C | CA325531575 | ARSA | c.414C>G (p.Pro138=) c.156C>G (p.Pro52=) n.805C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627217G= | CA2410959491 | ARSA | c.414C= (p.Pro138=) c.156C= (p.Pro52=) n.805C= | |
22 | g.50627217G>T | CA515391424 | ARSA | c.414C>A (p.Pro138=) c.156C>A (p.Pro52=) n.805C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.50627218G>A | CA115977 | ARSA | c.413C>T (p.Pro138Leu) c.155C>T (p.Pro52Leu) n.804C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627218G>C | CA412180391 | ARSA | c.413C>G (p.Pro138Arg) c.155C>G (p.Pro52Arg) n.804C>G | ClinVar dbSNP |
22 | g.50627218G= | CA2410959492 | ARSA | c.413C= (p.Pro138=) c.155C= (p.Pro52=) n.804C= | |
22 | g.50627218G>T | CA412180394 | ARSA | c.413C>A (p.Pro138His) c.155C>A (p.Pro52His) n.804C>A | ClinVar dbSNP |
22 | g.50627218_50627219insC | CA2657593847 | ARSA | c.412_413insG (p.Pro138ArgfsTer?) c.154_155insG (p.Pro52ArgfsTer?) n.803_804insG | gnomAD v4 |
22 | g.50627219G>A | CA219018 | ARSA | c.412C>T (p.Pro138Ser) c.154C>T (p.Pro52Ser) n.803C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627219G>C | CA325531576 | ARSA | c.412C>G (p.Pro138Ala) c.154C>G (p.Pro52Ala) n.803C>G | ClinVar dbSNP |
22 | g.50627219G= | CA2410959493 | ARSA | c.412C= (p.Pro138=) c.154C= (p.Pro52=) n.803C= | |
22 | g.50627219G>T | CA10325040 | ARSA | c.412C>A (p.Pro138Thr) c.154C>A (p.Pro52Thr) n.803C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.50627220C>A | CA515391431 | ARSA | c.411G>T (p.Leu137=) c.153G>T (p.Leu51=) n.802G>T | |
22 | g.50627220C>G | CA515391427 | ARSA | c.411G>C (p.Leu137=) c.153G>C (p.Leu51=) n.802G>C | |
22 | g.50627220C>T | CA515391429 | ARSA | c.411G>A (p.Leu137=) c.153G>A (p.Leu51=) n.802G>A | |
22 | g.50627221_50627229del | CA2842240958 | ARSA | c.403_411del (p.Ala135_Leu137del) c.145_153del (p.Ala49_Leu51del) n.794_802del | |
22 | g.50627221A= | CA2410959494 | ARSA | c.410T= (p.Leu137=) c.152T= (p.Leu51=) n.801T= | |
22 | g.50627221A>C | CA412180410 | ARSA | c.410T>G (p.Leu137Arg) c.152T>G (p.Leu51Arg) n.801T>G | |
22 | g.50627221A>G | CA116003 | ARSA | c.410T>C (p.Leu137Pro) c.152T>C (p.Leu51Pro) n.801T>C | ClinVar dbSNP |
22 | g.50627221A>T | CA412180423 | ARSA | c.410T>A (p.Leu137Gln) c.152T>A (p.Leu51Gln) n.801T>A | |
22 | g.50627221_50627233del | CA913088709 | ARSA | c.398_410del (p.Glu133GlyfsTer11) c.140_152del (p.Glu47GlyfsTer11) n.789_801del | |
22 | g.50627221_50627233delinsAGGAAGGCCCCCT | CA2410959495 | ARSA | c.398_410delinsAGGGGGCCTTCCT (p.Glu133=) c.140_152delinsAGGGGGCCTTCCT (p.Glu47=) n.789_801delinsAGGGGGCCTTCCT | |
22 | g.50627222G>A | CA515391433 | ARSA | c.409C>T (p.Leu137=) c.151C>T (p.Leu51=) n.800C>T | ClinVar dbSNP |
22 | g.50627222G>C | CA412180427 | ARSA | c.409C>G (p.Leu137Val) c.151C>G (p.Leu51Val) n.800C>G | |
22 | g.50627222G>T | CA412180433 | ARSA | c.409C>A (p.Leu137Met) c.151C>A (p.Leu51Met) n.800C>A | |
22 | g.50627222_50627233del | CA658824688 | ARSA | c.398_409del (p.Glu133_Leu137delinsVal) c.140_151del (p.Glu47_Leu51delinsVal) n.789_800del | ClinVar dbSNP |
22 | g.50627223G>A | CA515391434 | ARSA | c.408C>T (p.Phe136=) c.150C>T (p.Phe50=) n.799C>T | |
22 | g.50627223G>C | CA412180438 | ARSA | c.408C>G (p.Phe136Leu) c.150C>G (p.Phe50Leu) n.799C>G | |
22 | g.50627223G>T | CA412180441 | ARSA | c.408C>A (p.Phe136Leu) c.150C>A (p.Phe50Leu) n.799C>A | |
22 | g.50627224A= | CA2410959496 | ARSA | c.407T= (p.Phe136=) c.149T= (p.Phe50=) n.798T= | |
22 | g.50627224A>C | CA412180442 | ARSA | c.407T>G (p.Phe136Cys) c.149T>G (p.Phe50Cys) n.798T>G | |
22 | g.50627224A>G | CA412180443 | ARSA | c.407T>C (p.Phe136Ser) c.149T>C (p.Phe50Ser) n.798T>C | dbSNP |
22 | g.50627224A>T | CA412180444 | ARSA | c.407T>A (p.Phe136Tyr) c.149T>A (p.Phe50Tyr) n.798T>A | |
22 | g.50627225A>C | CA412180449 | ARSA | c.406T>G (p.Phe136Val) c.148T>G (p.Phe50Val) n.797T>G | |
22 | g.50627225A>G | CA412180453 | ARSA | c.406T>C (p.Phe136Leu) c.148T>C (p.Phe50Leu) n.797T>C | gnomAD v4 |
22 | g.50627225A>T | CA412180455 | ARSA | c.406T>A (p.Phe136Ile) c.148T>A (p.Phe50Ile) n.797T>A | |
22 | g.50627232_50627241del | CA2657593850 | ARSA | c.397_406del (p.Glu133SerfsTer12) c.139_148del (p.Glu47SerfsTer12) n.788_797del | gnomAD v4 |
22 | g.50627226G>A | CA515391437 | ARSA | c.405C>T (p.Ala135=) c.147C>T (p.Ala49=) n.796C>T | |
22 | g.50627226G>C | CA515391439 | ARSA | c.405C>G (p.Ala135=) c.147C>G (p.Ala49=) n.796C>G | |
22 | g.50627226G>T | CA515391438 | ARSA | c.405C>A (p.Ala135=) c.147C>A (p.Ala49=) n.796C>A |