Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56870569C>A | CA2633371696 | SLC12A3 | c.742-57C>A (n.742-57C>A) c.739-57C>A (n.739-57C>A) | gnomAD v4 |
16 | g.56870569C= | CA2224349498 | SLC12A3 | c.742-57C= (n.742-57C=) c.739-57C= (n.739-57C=) | |
16 | g.56870569C>G | CA281496972 | SLC12A3 | c.742-57C>G (n.742-57C>G) c.739-57C>G (n.739-57C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870570del | CA2633371703 | SLC12A3 | c.742-56del (n.742-56del) c.739-56del (n.739-56del) | gnomAD v4 |
16 | g.56870570T>G | CA2633371704 | SLC12A3 | c.742-56T>G (n.742-56T>G) c.739-56T>G (n.739-56T>G) | gnomAD v4 |
16 | g.56870570_56870577del | CA2576002010 | SLC12A3 | c.742-56_742-49del (n.742-56_742-49del) c.739-56_739-49del (n.739-56_739-49del) | gnomAD v4 |
16 | g.56870571G>A | CA977638238 | SLC12A3 | c.742-55G>A (n.742-55G>A) c.739-55G>A (n.739-55G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870571G= | CA2224349499 | SLC12A3 | c.742-55G= (n.742-55G=) c.739-55G= (n.739-55G=) | |
16 | g.56870575del | CA2576002011 | SLC12A3 | c.742-51del (n.742-51del) c.739-51del (n.739-51del) | gnomAD v4 |
16 | g.56870572G>A | CA2633371711 | SLC12A3 | c.742-54G>A (n.742-54G>A) c.739-54G>A (n.739-54G>A) | gnomAD v4 |
16 | g.56870572G>C | CA977638240 | SLC12A3 | c.742-54G>C (n.742-54G>C) c.739-54G>C (n.739-54G>C) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870572G= | CA2224349500 | SLC12A3 | c.742-54G= (n.742-54G=) c.739-54G= (n.739-54G=) | |
16 | g.56870572G>T | CA2807159847 | SLC12A3 | c.742-54G>T (n.742-54G>T) c.739-54G>T (n.739-54G>T) | |
16 | g.56870573G>A | CA2807159848 | SLC12A3 | c.742-53G>A (n.742-53G>A) c.739-53G>A (n.739-53G>A) | |
16 | g.56870573G>C | CA281496974 | SLC12A3 | c.742-53G>C (n.742-53G>C) c.739-53G>C (n.739-53G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870573G= | CA2224349501 | SLC12A3 | c.742-53G= (n.742-53G=) c.739-53G= (n.739-53G=) | |
16 | g.56870574G>T | CA2576002013 | SLC12A3 | c.742-52G>T (n.742-52G>T) c.739-52G>T (n.739-52G>T) | gnomAD v4 |
16 | g.56870575G>A | CA8069184 | SLC12A3 | c.742-51G>A (n.742-51G>A) c.739-51G>A (n.739-51G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870575G= | CA2224349502 | SLC12A3 | c.742-51G= (n.742-51G=) c.739-51G= (n.739-51G=) | |
16 | g.56870575G>T | CA8069185 | SLC12A3 | c.742-51G>T (n.742-51G>T) c.739-51G>T (n.739-51G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870576A= | CA2224349503 | SLC12A3 | c.742-50A= (n.742-50A=) c.739-50A= (n.739-50A=) | |
16 | g.56870576A>G | CA722005484 | SLC12A3 | c.742-50A>G (n.742-50A>G) c.739-50A>G (n.739-50A>G) | dbSNP gnomAD v4 |
16 | g.56870577_56870578delinsTG | CA2224349504 | SLC12A3 | c.742-49_742-48delinsTG (n.742-49_742-48delinsTG) c.739-49_739-48delinsTG (n.739-49_739-48delinsTG) | |
16 | g.56870578G>C | CA2576002014 | SLC12A3 | c.742-48G>C (n.742-48G>C) c.739-48G>C (n.739-48G>C) | gnomAD v4 |
16 | g.56870578G>T | CA2518801158 | SLC12A3 | c.742-48G>T (n.742-48G>T) c.739-48G>T (n.739-48G>T) | gnomAD v4 |
16 | g.56870581dup | CA2633371736 | SLC12A3 | c.742-45dup (n.742-45dup) c.739-45dup (n.739-45dup) | gnomAD v4 |
16 | g.56870581del | CA281496978 | SLC12A3 | c.742-45del (n.742-45del) c.739-45del (n.739-45del) | dbSNP gnomAD v4 |
16 | g.56870579G>A | CA8069186 | SLC12A3 | c.742-47G>A (n.742-47G>A) c.739-47G>A (n.739-47G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870579G= | CA2224349505 | SLC12A3 | c.742-47G= (n.742-47G=) c.739-47G= (n.739-47G=) | |
16 | g.56870579G>T | CA2633371741 | SLC12A3 | c.742-47G>T (n.742-47G>T) c.739-47G>T (n.739-47G>T) | gnomAD v4 |
16 | g.56870581G>C | CA2633371743 | SLC12A3 | c.742-45G>C (n.742-45G>C) c.739-45G>C (n.739-45G>C) | gnomAD v4 |
16 | g.56870581G>T | CA2576002015 | SLC12A3 | c.742-45G>T (n.742-45G>T) c.739-45G>T (n.739-45G>T) | |
16 | g.56870583A= | CA2224349506 | SLC12A3 | c.742-43A= (n.742-43A=) c.739-43A= (n.739-43A=) | |
16 | g.56870583A>C | CA2807159849 | SLC12A3 | c.742-43A>C (n.742-43A>C) c.739-43A>C (n.739-43A>C) | |
16 | g.56870583A>T | CA622334082 | SLC12A3 | c.742-43A>T (n.742-43A>T) c.739-43A>T (n.739-43A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870584T>A | CA2576002017 | SLC12A3 | c.742-42T>A (n.742-42T>A) c.739-42T>A (n.739-42T>A) | |
16 | g.56870584T>C | CA2224349507 | SLC12A3 | c.742-42T>C (n.742-42T>C) c.739-42T>C (n.739-42T>C) | dbSNP |
16 | g.56870584T= | CA2224349508 | SLC12A3 | c.742-42T= (n.742-42T=) c.739-42T= (n.739-42T=) | |
16 | g.56870586C>A | CA2633371744 | SLC12A3 | c.742-40C>A (n.742-40C>A) c.739-40C>A (n.739-40C>A) | gnomAD v4 |
16 | g.56870586C= | CA2224349509 | SLC12A3 | c.742-40C= (n.742-40C=) c.739-40C= (n.739-40C=) | |
16 | g.56870586C>T | CA722005491 | SLC12A3 | c.742-40C>T (n.742-40C>T) c.739-40C>T (n.739-40C>T) | dbSNP |
16 | g.56870587del | CA2633371747 | SLC12A3 | c.742-39del (n.742-39del) c.739-39del (n.739-39del) | gnomAD v4 |
16 | g.56870587A>G | CA2633371749 | SLC12A3 | c.742-39A>G (n.742-39A>G) c.739-39A>G (n.739-39A>G) | gnomAD v4 |
16 | g.56870589_56870590delinsAG | CA2224349510 | SLC12A3 | c.742-37_742-36delinsAG (n.742-37_742-36delinsAG) c.739-37_739-36delinsAG (n.739-37_739-36delinsAG) | |
16 | g.56870590G>A | CA722005494 | SLC12A3 | c.742-36G>A (n.742-36G>A) c.739-36G>A (n.739-36G>A) | dbSNP |
16 | g.56870590G= | CA2224349511 | SLC12A3 | c.742-36G= (n.742-36G=) c.739-36G= (n.739-36G=) | |
16 | g.56870590G>T | CA722005496 | SLC12A3 | c.742-36G>T (n.742-36G>T) c.739-36G>T (n.739-36G>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870592del | CA622334083 | SLC12A3 | c.742-34del (n.742-34del) c.739-34del (n.739-34del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870591G>C | CA2576002019 | SLC12A3 | c.742-35G>C (n.742-35G>C) c.739-35G>C (n.739-35G>C) | gnomAD v4 |
16 | g.56870592G>A | CA2633371758 | SLC12A3 | c.742-34G>A (n.742-34G>A) c.739-34G>A (n.739-34G>A) | dbSNP gnomAD v4 |
16 | g.56870594G>A | CA2633371760 | SLC12A3 | c.742-32G>A (n.742-32G>A) c.739-32G>A (n.739-32G>A) | gnomAD v4 |
16 | g.56870596C>A | CA2633371801 | SLC12A3 | c.742-30C>A (n.742-30C>A) c.739-30C>A (n.739-30C>A) | gnomAD v4 |
16 | g.56870597T>G | CA8069187 | SLC12A3 | c.742-29T>G (n.742-29T>G) c.739-29T>G (n.739-29T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870597T= | CA2224349512 | SLC12A3 | c.742-29T= (n.742-29T=) c.739-29T= (n.739-29T=) | |
16 | g.56870598T>C | CA2633371808 | SLC12A3 | c.742-28T>C (n.742-28T>C) c.739-28T>C (n.739-28T>C) | gnomAD v4 |
16 | g.56870599G>A | CA2576002021 | SLC12A3 | c.742-27G>A (n.742-27G>A) c.739-27G>A (n.739-27G>A) | |
16 | g.56870600C>A | CA2633371810 | SLC12A3 | c.742-26C>A (n.742-26C>A) c.739-26C>A (n.739-26C>A) | gnomAD v4 |
16 | g.56870600C= | CA2224349513 | SLC12A3 | c.742-26C= (n.742-26C=) c.739-26C= (n.739-26C=) | |
16 | g.56870600C>T | CA622334086 | SLC12A3 | c.742-26C>T (n.742-26C>T) c.739-26C>T (n.739-26C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870601A>G | CA2633371813 | SLC12A3 | c.742-25A>G (n.742-25A>G) c.739-25A>G (n.739-25A>G) | gnomAD v4 |
16 | g.56870602G>A | CA622334090 | SLC12A3 | c.742-24G>A (n.742-24G>A) c.739-24G>A (n.739-24G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870602G= | CA2224349514 | SLC12A3 | c.742-24G= (n.742-24G=) c.739-24G= (n.739-24G=) | |
16 | g.56870603C>A | CA2576002022 | SLC12A3 | c.742-23C>A (n.742-23C>A) c.739-23C>A (n.739-23C>A) | gnomAD v4 |
16 | g.56870603C>T | CA2633371823 | SLC12A3 | c.742-23C>T (n.742-23C>T) c.739-23C>T (n.739-23C>T) | gnomAD v4 |
16 | g.56870604C>A | CA2633371826 | SLC12A3 | c.742-22C>A (n.742-22C>A) c.739-22C>A (n.739-22C>A) | gnomAD v4 |
16 | g.56870604C= | CA2224349515 | SLC12A3 | c.742-22C= (n.742-22C=) c.739-22C= (n.739-22C=) | |
16 | g.56870604C>T | CA8069188 | SLC12A3 | c.742-22C>T (n.742-22C>T) c.739-22C>T (n.739-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870605T>C | CA2576002023 | SLC12A3 | c.742-21T>C (n.742-21T>C) c.739-21T>C (n.739-21T>C) | |
16 | g.56870607del | CA2633371833 | SLC12A3 | c.742-19del (n.742-19del) c.739-19del (n.739-19del) | gnomAD v4 |
16 | g.56870607G>A | CA622334092 | SLC12A3 | c.742-19G>A (n.742-19G>A) c.739-19G>A (n.739-19G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870607G= | CA2224349516 | SLC12A3 | c.742-19G= (n.742-19G=) c.739-19G= (n.739-19G=) | |
16 | g.56870607G>T | CA2732190974 | SLC12A3 | c.742-19G>T (n.742-19G>T) c.739-19G>T (n.739-19G>T) | dbSNP |
16 | g.56870608C>A | CA2633371839 | SLC12A3 | c.742-18C>A (n.742-18C>A) c.739-18C>A (n.739-18C>A) | gnomAD v4 |
16 | g.56870608C= | CA2224349517 | SLC12A3 | c.742-18C= (n.742-18C=) c.739-18C= (n.739-18C=) | |
16 | g.56870608C>T | CA8069189 | SLC12A3 | c.742-18C>T (n.742-18C>T) c.739-18C>T (n.739-18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870609C>A | CA2633371852 | SLC12A3 | c.742-17C>A (n.742-17C>A) c.739-17C>A (n.739-17C>A) | gnomAD v4 |
16 | g.56870611A>G | CA2576002024 | SLC12A3 | c.742-15A>G (n.742-15A>G) c.739-15A>G (n.739-15A>G) | ClinVar gnomAD v4 |
16 | g.56870615del | CA2633371854 | SLC12A3 | c.742-11del (n.742-11del) c.739-11del (n.739-11del) | gnomAD v4 |
16 | g.56870613T>A | CA8069190 | SLC12A3 | c.742-13T>A (n.742-13T>A) c.739-13T>A (n.739-13T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870613T= | CA2224349518 | SLC12A3 | c.742-13T= (n.742-13T=) c.739-13T= (n.739-13T=) | |
16 | g.56870615T>C | CA622334095 | SLC12A3 | c.742-11T>C (n.742-11T>C) c.739-11T>C (n.739-11T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870615T= | CA2224349519 | SLC12A3 | c.742-11T= (n.742-11T=) c.739-11T= (n.739-11T=) | |
16 | g.56870616C>A | CA2633371864 | SLC12A3 | c.742-10C>A (n.742-10C>A) c.739-10C>A (n.739-10C>A) | gnomAD v4 |
16 | g.56870616C>T | CA2576002025 | SLC12A3 | c.742-10C>T (n.742-10C>T) c.739-10C>T (n.739-10C>T) | ClinVar gnomAD v4 |
16 | g.56870617C>A | CA2633371867 | SLC12A3 | c.742-9C>A (n.742-9C>A) c.739-9C>A (n.739-9C>A) | gnomAD v4 |
16 | g.56870617C>T | CA2633371868 | SLC12A3 | c.742-9C>T (n.742-9C>T) c.739-9C>T (n.739-9C>T) | gnomAD v4 |
16 | g.56870618C>A | CA2633371870 | SLC12A3 | c.742-8C>A (n.742-8C>A) c.739-8C>A (n.739-8C>A) | gnomAD v4 |
16 | g.56870619T>C | CA2633371871 | SLC12A3 | c.742-7T>C (n.742-7T>C) c.739-7T>C (n.739-7T>C) | gnomAD v4 |
16 | g.56870620C>A | CA2576002026 | SLC12A3 | c.742-6C>A (n.742-6C>A) c.739-6C>A (n.739-6C>A) | gnomAD v4 |
16 | g.56870620C= | CA2224349520 | SLC12A3 | c.742-6C= (n.742-6C=) c.739-6C= (n.739-6C=) | |
16 | g.56870620C>G | CA2224349521 | SLC12A3 | c.742-6C>G (n.742-6C>G) c.739-6C>G (n.739-6C>G) | dbSNP |
16 | g.56870620C>T | CA8069191 | SLC12A3 | c.742-6C>T (n.742-6C>T) c.739-6C>T (n.739-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870621C>A | CA2576002027 | SLC12A3 | c.742-5C>A (n.742-5C>A) c.739-5C>A (n.739-5C>A) | gnomAD v4 |
16 | g.56870622C>A | CA2576002029 | SLC12A3 | c.742-4C>A (n.742-4C>A) c.739-4C>A (n.739-4C>A) | gnomAD v4 |
16 | g.56870622C>T | CA2807159851 | SLC12A3 | c.742-4C>T (n.742-4C>T) c.739-4C>T (n.739-4C>T) | |
16 | g.56870623C>A | CA2576002030 | SLC12A3 | c.742-3C>A (n.742-3C>A) c.739-3C>A (n.739-3C>A) | gnomAD v4 |
16 | g.56870624A= | CA2224349522 | SLC12A3 | c.742-2A= (n.742-2A=) c.739-2A= (n.739-2A=) | |
16 | g.56870624A>C | CA395982104 | SLC12A3 | c.742-2A>C (n.742-2A>C) c.739-2A>C (n.739-2A>C) | dbSNP |
16 | g.56870624A>G | CA395982105 | SLC12A3 | c.742-2A>G (n.742-2A>G) c.739-2A>G (n.739-2A>G) | gnomAD v4 |
16 | g.56870624A>T | CA395982106 | SLC12A3 | c.742-2A>T (n.742-2A>T) c.739-2A>T (n.739-2A>T) | |
16 | g.56870625G>A | CA395982109 | SLC12A3 | c.742-1G>A (n.742-1G>A) c.739-1G>A (n.739-1G>A) | gnomAD v4 |
16 | g.56870625G>C | CA395982108 | SLC12A3 | c.742-1G>C (n.742-1G>C) c.739-1G>C (n.739-1G>C) | |
16 | g.56870625G>T | CA395982107 | SLC12A3 | c.742-1G>T (n.742-1G>T) c.739-1G>T (n.739-1G>T) | |
16 | g.56870626G>A | CA395982110 | SLC12A3 | c.742G>A (p.Glu248Lys) c.739G>A (p.Glu247Lys) | COSMIC |
16 | g.56870626G>C | CA395982111 | SLC12A3 | c.742G>C (p.Glu248Gln) c.739G>C (p.Glu247Gln) | |
16 | g.56870626G>T | CA395982112 | SLC12A3 | c.742G>T (p.Glu248Ter) c.739G>T (p.Glu247Ter) | |
16 | g.56870627A>C | CA395982113 | SLC12A3 | c.743A>C (p.Glu248Ala) c.740A>C (p.Glu247Ala) | |
16 | g.56870627A>G | CA395982114 | SLC12A3 | c.743A>G (p.Glu248Gly) c.740A>G (p.Glu247Gly) | gnomAD v4 |
16 | g.56870627A>T | CA395982115 | SLC12A3 | c.743A>T (p.Glu248Val) c.740A>T (p.Glu247Val) | |
16 | g.56870628G>A | CA8069192 | SLC12A3 | c.744G>A (p.Glu248=) c.741G>A (p.Glu247=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870628G>C | CA395982116 | SLC12A3 | c.744G>C (p.Glu248Asp) c.741G>C (p.Glu247Asp) | |
16 | g.56870628G= | CA2224349523 | SLC12A3 | c.744G= (p.Glu248=) c.741G= (p.Glu247=) | |
16 | g.56870628G>T | CA8069193 | SLC12A3 | c.744G>T (p.Glu248Asp) c.741G>T (p.Glu247Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870629T>A | CA395982117 | SLC12A3 | c.745T>A (p.Tyr249Asn) c.742T>A (p.Tyr248Asn) | |
16 | g.56870629T>C | CA8069194 | SLC12A3 | c.745T>C (p.Tyr249His) c.742T>C (p.Tyr248His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870629T>G | CA395982118 | SLC12A3 | c.745T>G (p.Tyr249Asp) c.742T>G (p.Tyr248Asp) | |
16 | g.56870629T= | CA2224349524 | SLC12A3 | c.745T= (p.Tyr249=) c.742T= (p.Tyr248=) | |
16 | g.56870630A= | CA2224349525 | SLC12A3 | c.746A= (p.Tyr249=) c.743A= (p.Tyr248=) | |
16 | g.56870630A>C | CA395982120 | SLC12A3 | c.746A>C (p.Tyr249Ser) c.743A>C (p.Tyr248Ser) | |
16 | g.56870630A>G | CA281496999 | SLC12A3 | c.746A>G (p.Tyr249Cys) c.743A>G (p.Tyr248Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870630A>T | CA395982119 | SLC12A3 | c.746A>T (p.Tyr249Phe) c.743A>T (p.Tyr248Phe) | |
16 | g.56870631T>A | CA395982121 | SLC12A3 | c.747T>A (p.Tyr249Ter) c.744T>A (p.Tyr248Ter) | |
16 | g.56870631T>C | CA8069195 | SLC12A3 | c.747T>C (p.Tyr249=) c.744T>C (p.Tyr248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870631T>G | CA395982122 | SLC12A3 | c.747T>G (p.Tyr249Ter) c.744T>G (p.Tyr248Ter) | |
16 | g.56870631T= | CA2224349526 | SLC12A3 | c.747T= (p.Tyr249=) c.744T= (p.Tyr248=) | |
16 | g.56870632G>A | CA395982123 | SLC12A3 | c.748G>A (p.Gly250Arg) c.745G>A (p.Gly249Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870632G>C | CA395982124 | SLC12A3 | c.748G>C (p.Gly250Arg) c.745G>C (p.Gly249Arg) | |
16 | g.56870632G= | CA2224349527 | SLC12A3 | c.748G= (p.Gly250=) c.745G= (p.Gly249=) | |
16 | g.56870632G>T | CA395982125 | SLC12A3 | c.748G>T (p.Gly250Trp) c.745G>T (p.Gly249Trp) | |
16 | g.56870635del | CA2580091685 | SLC12A3 | c.751del (p.Ala251HisfsTer?) c.748del (p.Ala250HisfsTer?) | ClinVar |
16 | g.56870633G>A | CA395982126 | SLC12A3 | c.749G>A (p.Gly250Glu) c.746G>A (p.Gly249Glu) | |
16 | g.56870633G>C | CA395982127 | SLC12A3 | c.749G>C (p.Gly250Ala) c.746G>C (p.Gly249Ala) | |
16 | g.56870633G>T | CA395982128 | SLC12A3 | c.749G>T (p.Gly250Val) c.746G>T (p.Gly249Val) | |
16 | g.56870634G>A | CA495603163 | SLC12A3 | c.750G>A (p.Gly250=) c.747G>A (p.Gly249=) | ClinVar gnomAD v4 |
16 | g.56870634G>C | CA495603164 | SLC12A3 | c.750G>C (p.Gly250=) c.747G>C (p.Gly249=) | |
16 | g.56870634G>T | CA495603165 | SLC12A3 | c.750G>T (p.Gly250=) c.747G>T (p.Gly249=) | |
16 | g.56870635G>A | CA395982129 | SLC12A3 | c.751G>A (p.Ala251Thr) c.748G>A (p.Ala250Thr) | gnomAD v4 |
16 | g.56870635G>C | CA395982130 | SLC12A3 | c.751G>C (p.Ala251Pro) c.748G>C (p.Ala250Pro) | |
16 | g.56870635G= | CA2224349528 | SLC12A3 | c.751G= (p.Ala251=) c.748G= (p.Ala250=) | |
16 | g.56870635G>T | CA8069196 | SLC12A3 | c.751G>T (p.Ala251Ser) c.748G>T (p.Ala250Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870636C>A | CA395982133 | SLC12A3 | c.752C>A (p.Ala251Glu) c.749C>A (p.Ala250Glu) | |
16 | g.56870636C>G | CA395982131 | SLC12A3 | c.752C>G (p.Ala251Gly) c.749C>G (p.Ala250Gly) | |
16 | g.56870636C>T | CA395982132 | SLC12A3 | c.752C>T (p.Ala251Val) c.749C>T (p.Ala250Val) | ClinVar gnomAD v4 |
16 | g.56870637A>C | CA495603166 | SLC12A3 | c.753A>C (p.Ala251=) c.750A>C (p.Ala250=) | |
16 | g.56870637A>G | CA495603167 | SLC12A3 | c.753A>G (p.Ala251=) c.750A>G (p.Ala250=) | |
16 | g.56870637A>T | CA495603168 | SLC12A3 | c.753A>T (p.Ala251=) c.750A>T (p.Ala250=) | |
16 | g.56870638C>A | CA395982134 | SLC12A3 | c.754C>A (p.Pro252Thr) c.751C>A (p.Pro251Thr) | |
16 | g.56870638C= | CA2224349529 | SLC12A3 | c.754C= (p.Pro252=) c.751C= (p.Pro251=) | |
16 | g.56870638C>G | CA395982135 | SLC12A3 | c.754C>G (p.Pro252Ala) c.751C>G (p.Pro251Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870638C>T | CA395982136 | SLC12A3 | c.754C>T (p.Pro252Ser) c.751C>T (p.Pro251Ser) | gnomAD v4 |
16 | g.56870639C>A | CA395982137 | SLC12A3 | c.755C>A (p.Pro252His) c.752C>A (p.Pro251His) | gnomAD v4 |
16 | g.56870639C>G | CA395982138 | SLC12A3 | c.755C>G (p.Pro252Arg) c.752C>G (p.Pro251Arg) | gnomAD v4 |
16 | g.56870639C>T | CA395982139 | SLC12A3 | c.755C>T (p.Pro252Leu) c.752C>T (p.Pro251Leu) | |
16 | g.56870640C>A | CA495603171 | SLC12A3 | c.756C>A (p.Pro252=) c.753C>A (p.Pro251=) | gnomAD v4 |
16 | g.56870640C= | CA2224349530 | SLC12A3 | c.756C= (p.Pro252=) c.753C= (p.Pro251=) | |
16 | g.56870640C>G | CA495603170 | SLC12A3 | c.756C>G (p.Pro252=) c.753C>G (p.Pro251=) | |
16 | g.56870640C>T | CA495603169 | SLC12A3 | c.756C>T (p.Pro252=) c.753C>T (p.Pro251=) | dbSNP |
16 | g.56870640_56870641insGGTGC | CA2732476887 | SLC12A3 | c.756_757insGGTGC (p.Ile253GlyfsTer?) c.753_754insGGTGC (p.Ile252GlyfsTer?) | dbSNP |
16 | g.56870641A= | CA2224349531 | SLC12A3 | c.757A= (p.Ile253=) c.754A= (p.Ile252=) | |
16 | g.56870641A>C | CA395982140 | SLC12A3 | c.757A>C (p.Ile253Leu) c.754A>C (p.Ile252Leu) | |
16 | g.56870641A>G | CA395982141 | SLC12A3 | c.757A>G (p.Ile253Val) c.754A>G (p.Ile252Val) | dbSNP gnomAD v4 |
16 | g.56870641A>T | CA395982142 | SLC12A3 | c.757A>T (p.Ile253Phe) c.754A>T (p.Ile252Phe) | |
16 | g.56870642T>A | CA395982143 | SLC12A3 | c.758T>A (p.Ile253Asn) c.755T>A (p.Ile252Asn) | |
16 | g.56870642T>C | CA395982144 | SLC12A3 | c.758T>C (p.Ile253Thr) c.755T>C (p.Ile252Thr) | |
16 | g.56870642T>G | CA395982145 | SLC12A3 | c.758T>G (p.Ile253Ser) c.755T>G (p.Ile252Ser) | |
16 | g.56870643C>A | CA495603172 | SLC12A3 | c.759C>A (p.Ile253=) c.756C>A (p.Ile252=) | gnomAD v4 |
16 | g.56870643C= | CA2224349532 | SLC12A3 | c.759C= (p.Ile253=) c.756C= (p.Ile252=) | |
16 | g.56870643C>G | CA395982146 | SLC12A3 | c.759C>G (p.Ile253Met) c.756C>G (p.Ile252Met) | |
16 | g.56870643C>T | CA8069197 | SLC12A3 | c.759C>T (p.Ile253=) c.756C>T (p.Ile252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870644G>A | CA8069199 | SLC12A3 | c.760G>A (p.Val254Met) c.757G>A (p.Val253Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870644G>C | CA395982147 | SLC12A3 | c.760G>C (p.Val254Leu) c.757G>C (p.Val253Leu) | dbSNP gnomAD v4 |
16 | g.56870644G= | CA2224349533 | SLC12A3 | c.760G= (p.Val254=) c.757G= (p.Val253=) | |
16 | g.56870644G>T | CA8069198 | SLC12A3 | c.760G>T (p.Val254Leu) c.757G>T (p.Val253Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870645T>A | CA395982148 | SLC12A3 | c.761T>A (p.Val254Glu) c.758T>A (p.Val253Glu) | |
16 | g.56870645T>C | CA395982149 | SLC12A3 | c.761T>C (p.Val254Ala) c.758T>C (p.Val253Ala) | |
16 | g.56870645T>G | CA395982150 | SLC12A3 | c.761T>G (p.Val254Gly) c.758T>G (p.Val253Gly) | |
16 | g.56870646G>A | CA495603173 | SLC12A3 | c.762G>A (p.Val254=) c.759G>A (p.Val253=) | gnomAD v4 |
16 | g.56870646G>C | CA495603175 | SLC12A3 | c.762G>C (p.Val254=) c.759G>C (p.Val253=) | gnomAD v4 |
16 | g.56870646G>T | CA495603174 | SLC12A3 | c.762G>T (p.Val254=) c.759G>T (p.Val253=) | |
16 | g.56870647del | CA2633372005 | SLC12A3 | c.763del (p.Asp255ThrfsTer?) c.760del (p.Asp254ThrfsTer?) | gnomAD v4 |
16 | g.56870647G>A | CA395982151 | SLC12A3 | c.763G>A (p.Asp255Asn) c.760G>A (p.Asp254Asn) | |
16 | g.56870647G>C | CA395982152 | SLC12A3 | c.763G>C (p.Asp255His) c.760G>C (p.Asp254His) | |
16 | g.56870647G>T | CA395982153 | SLC12A3 | c.763G>T (p.Asp255Tyr) c.760G>T (p.Asp254Tyr) | |
16 | g.56870648A>C | CA395982154 | SLC12A3 | c.764A>C (p.Asp255Ala) c.761A>C (p.Asp254Ala) | |
16 | g.56870648A>G | CA395982155 | SLC12A3 | c.764A>G (p.Asp255Gly) c.761A>G (p.Asp254Gly) | |
16 | g.56870648A>T | CA395982156 | SLC12A3 | c.764A>T (p.Asp255Val) c.761A>T (p.Asp254Val) | |
16 | g.56870649C>A | CA395982157 | SLC12A3 | c.765C>A (p.Asp255Glu) c.762C>A (p.Asp254Glu) | gnomAD v4 |
16 | g.56870649C= | CA2224349534 | SLC12A3 | c.765C= (p.Asp255=) c.762C= (p.Asp254=) | |
16 | g.56870649C>G | CA395982158 | SLC12A3 | c.765C>G (p.Asp255Glu) c.762C>G (p.Asp254Glu) | |
16 | g.56870649C>T | CA281497021 | SLC12A3 | c.765C>T (p.Asp255=) c.762C>T (p.Asp254=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870650C>A | CA395982159 | SLC12A3 | c.766C>A (p.Pro256Thr) c.763C>A (p.Pro255Thr) | gnomAD v4 |
16 | g.56870650C= | CA2224349535 | SLC12A3 | c.766C= (p.Pro256=) c.763C= (p.Pro255=) | |
16 | g.56870650C>G | CA395982160 | SLC12A3 | c.766C>G (p.Pro256Ala) c.763C>G (p.Pro255Ala) | gnomAD v4 |
16 | g.56870650C>T | CA8069200 | SLC12A3 | c.766C>T (p.Pro256Ser) c.763C>T (p.Pro255Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870651C>A | CA395982161 | SLC12A3 | c.767C>A (p.Pro256His) c.764C>A (p.Pro255His) | |
16 | g.56870651C>G | CA395982162 | SLC12A3 | c.767C>G (p.Pro256Arg) c.764C>G (p.Pro255Arg) | |
16 | g.56870651C>T | CA395982163 | SLC12A3 | c.767C>T (p.Pro256Leu) c.764C>T (p.Pro255Leu) | dbSNP |
16 | g.56870652C>A | CA495603176 | SLC12A3 | c.768C>A (p.Pro256=) c.765C>A (p.Pro255=) | |
16 | g.56870652C= | CA2224349536 | SLC12A3 | c.768C= (p.Pro256=) c.765C= (p.Pro255=) | |
16 | g.56870652C>G | CA495603178 | SLC12A3 | c.768C>G (p.Pro256=) c.765C>G (p.Pro255=) | gnomAD v4 |
16 | g.56870652C>T | CA495603177 | SLC12A3 | c.768C>T (p.Pro256=) c.765C>T (p.Pro255=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56870653A= | CA2224349537 | SLC12A3 | c.769A= (p.Ile257=) c.766A= (p.Ile256=) | |
16 | g.56870653A>C | CA395982164 | SLC12A3 | c.769A>C (p.Ile257Leu) c.766A>C (p.Ile256Leu) | |
16 | g.56870653A>G | CA8069201 | SLC12A3 | c.769A>G (p.Ile257Val) c.766A>G (p.Ile256Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870653A>T | CA395982165 | SLC12A3 | c.769A>T (p.Ile257Phe) c.766A>T (p.Ile256Phe) | |
16 | g.56870654T>A | CA395982166 | SLC12A3 | c.770T>A (p.Ile257Asn) c.767T>A (p.Ile256Asn) | |
16 | g.56870654T>C | CA395982167 | SLC12A3 | c.770T>C (p.Ile257Thr) c.767T>C (p.Ile256Thr) | |
16 | g.56870654T>G | CA395982168 | SLC12A3 | c.770T>G (p.Ile257Ser) c.767T>G (p.Ile256Ser) | |
16 | g.56870655T>A | CA495603179 | SLC12A3 | c.771T>A (p.Ile257=) c.768T>A (p.Ile256=) | |
16 | g.56870655T>C | CA495603180 | SLC12A3 | c.771T>C (p.Ile257=) c.768T>C (p.Ile256=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870655T>G | CA395982169 | SLC12A3 | c.771T>G (p.Ile257Met) c.768T>G (p.Ile256Met) | |
16 | g.56870655T= | CA2224349538 | SLC12A3 | c.771T= (p.Ile257=) c.768T= (p.Ile256=) | |
16 | g.56870656A>C | CA395982171 | SLC12A3 | c.772A>C (p.Asn258His) c.769A>C (p.Asn257His) | |
16 | g.56870656A>G | CA395982172 | SLC12A3 | c.772A>G (p.Asn258Asp) c.769A>G (p.Asn257Asp) | |
16 | g.56870656A>T | CA395982170 | SLC12A3 | c.772A>T (p.Asn258Tyr) c.769A>T (p.Asn257Tyr) | |
16 | g.56870657A>C | CA395982173 | SLC12A3 | c.773A>C (p.Asn258Thr) c.770A>C (p.Asn257Thr) | |
16 | g.56870657A>G | CA395982174 | SLC12A3 | c.773A>G (p.Asn258Ser) c.770A>G (p.Asn257Ser) | |
16 | g.56870657A>T | CA395982175 | SLC12A3 | c.773A>T (p.Asn258Ile) c.770A>T (p.Asn257Ile) | |
16 | g.56870658C>A | CA395982176 | SLC12A3 | c.774C>A (p.Asn258Lys) c.771C>A (p.Asn257Lys) | |
16 | g.56870658C= | CA2224349539 | SLC12A3 | c.774C= (p.Asn258=) c.771C= (p.Asn257=) | |
16 | g.56870658C>G | CA395982177 | SLC12A3 | c.774C>G (p.Asn258Lys) c.771C>G (p.Asn257Lys) | |
16 | g.56870658C>T | CA8069202 | SLC12A3 | c.774C>T (p.Asn258=) c.771C>T (p.Asn257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56870659G>A | CA8069203 | SLC12A3 | c.775G>A (p.Asp259Asn) c.772G>A (p.Asp258Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870659G>C | CA395982178 | SLC12A3 | c.775G>C (p.Asp259His) c.772G>C (p.Asp258His) | |
16 | g.56870659G= | CA2224349540 | SLC12A3 | c.775G= (p.Asp259=) c.772G= (p.Asp258=) | |
16 | g.56870659G>T | CA395982179 | SLC12A3 | c.775G>T (p.Asp259Tyr) c.772G>T (p.Asp258Tyr) | gnomAD v4 |
16 | g.56870660A= | CA2224349541 | SLC12A3 | c.776A= (p.Asp259=) c.773A= (p.Asp258=) | |
16 | g.56870660A>C | CA395982180 | SLC12A3 | c.776A>C (p.Asp259Ala) c.773A>C (p.Asp258Ala) | |
16 | g.56870660A>G | CA395982181 | SLC12A3 | c.776A>G (p.Asp259Gly) c.773A>G (p.Asp258Gly) | |
16 | g.56870660A>T | CA395982182 | SLC12A3 | c.776A>T (p.Asp259Val) c.773A>T (p.Asp258Val) | dbSNP gnomAD v4 |
16 | g.56870661C>A | CA395982183 | SLC12A3 | c.777C>A (p.Asp259Glu) c.774C>A (p.Asp258Glu) | |
16 | g.56870661C= | CA2224349542 | SLC12A3 | c.777C= (p.Asp259=) c.774C= (p.Asp258=) | |
16 | g.56870661C>G | CA395982184 | SLC12A3 | c.777C>G (p.Asp259Glu) c.774C>G (p.Asp258Glu) | |
16 | g.56870661C>T | CA495603181 | SLC12A3 | c.777C>T (p.Asp259=) c.774C>T (p.Asp258=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56870662A>C | CA395982185 | SLC12A3 | c.778A>C (p.Ile260Leu) c.775A>C (p.Ile259Leu) | gnomAD v4 |
16 | g.56870662A>G | CA395982187 | SLC12A3 | c.778A>G (p.Ile260Val) c.775A>G (p.Ile259Val) | |
16 | g.56870662A>T | CA395982186 | SLC12A3 | c.778A>T (p.Ile260Phe) c.775A>T (p.Ile259Phe) | |
16 | g.56870663T>A | CA395982188 | SLC12A3 | c.779T>A (p.Ile260Asn) c.776T>A (p.Ile259Asn) | |
16 | g.56870663T>C | CA395982189 | SLC12A3 | c.779T>C (p.Ile260Thr) c.776T>C (p.Ile259Thr) | ClinVar dbSNP |
16 | g.56870663T>G | CA395982190 | SLC12A3 | c.779T>G (p.Ile260Ser) c.776T>G (p.Ile259Ser) | |
16 | g.56870663T= | CA2224349543 | SLC12A3 | c.779T= (p.Ile260=) c.776T= (p.Ile259=) | |
16 | g.56870664C>A | CA495603182 | SLC12A3 | c.780C>A (p.Ile260=) c.777C>A (p.Ile259=) | |
16 | g.56870664C>G | CA395982191 | SLC12A3 | c.780C>G (p.Ile260Met) c.777C>G (p.Ile259Met) | |
16 | g.56870664C>T | CA495603183 | SLC12A3 | c.780C>T (p.Ile260=) c.777C>T (p.Ile259=) | gnomAD v4 |
16 | g.56870665C>A | CA395982192 | SLC12A3 | c.781C>A (p.Arg261Ser) c.778C>A (p.Arg260Ser) | dbSNP |
16 | g.56870665C= | CA2224349544 | SLC12A3 | c.781C= (p.Arg261=) c.778C= (p.Arg260=) | |
16 | g.56870665C>G | CA395982193 | SLC12A3 | c.781C>G (p.Arg261Gly) c.778C>G (p.Arg260Gly) | |
16 | g.56870665C>T | CA8069204 | SLC12A3 | c.781C>T (p.Arg261Cys) c.778C>T (p.Arg260Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56870666G>A | CA281497034 | SLC12A3 | c.782G>A (p.Arg261His) c.779G>A (p.Arg260His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56870666G>C | CA395982194 | SLC12A3 | c.782G>C (p.Arg261Pro) c.779G>C (p.Arg260Pro) | dbSNP |
16 | g.56870666G= | CA2224349545 | SLC12A3 | c.782G= (p.Arg261=) c.779G= (p.Arg260=) | |
16 | g.56870666G>T | CA395982195 | SLC12A3 | c.782G>T (p.Arg261Leu) c.779G>T (p.Arg260Leu) | |
16 | g.56870667C>A | CA495603184 | SLC12A3 | c.783C>A (p.Arg261=) c.780C>A (p.Arg260=) | |
16 | g.56870667C>G | CA495603186 | SLC12A3 | c.783C>G (p.Arg261=) c.780C>G (p.Arg260=) | |
16 | g.56870667C>T | CA495603185 | SLC12A3 | c.783C>T (p.Arg261=) c.780C>T (p.Arg260=) | |
16 | g.56870668A= | CA2224349546 | SLC12A3 | c.784A= (p.Ile262=) c.781A= (p.Ile261=) | |
16 | g.56870668A>C | CA395982196 | SLC12A3 | c.784A>C (p.Ile262Leu) c.781A>C (p.Ile261Leu) | |
16 | g.56870668A>G | CA395982197 | SLC12A3 | c.784A>G (p.Ile262Val) c.781A>G (p.Ile261Val) | |
16 | g.56870668A>T | CA395982198 | SLC12A3 | c.784A>T (p.Ile262Phe) c.781A>T (p.Ile261Phe) | |
16 | g.56870668_56870669insGGCGTGGTCTCGG | CA2695223675 | SLC12A3 | c.784_785insGGCGTGGTCTCGG (p.Ile262ArgfsTer?) c.781_782insGGCGTGGTCTCGG (p.Ile261ArgfsTer?) | |
16 | g.56870669T>A | CA395982199 | SLC12A3 | c.785T>A (p.Ile262Asn) c.782T>A (p.Ile261Asn) | |
16 | g.56870669T>C | CA395982200 | SLC12A3 | c.785T>C (p.Ile262Thr) c.782T>C (p.Ile261Thr) | |
16 | g.56870669T>G | CA8069205 | SLC12A3 | c.785T>G (p.Ile262Ser) c.782T>G (p.Ile261Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56870669T= | CA2224349547 | SLC12A3 | c.785T= (p.Ile262=) c.782T= (p.Ile261=) | |
16 | g.56870674_56870675insGCGTGGTCTCGGTCATTG | CA722005635 | SLC12A3 | c.790_791insGCGTGGTCTCGGTCATTG (p.Ile263_Ala264insGlyValValSerValIle) c.787_788insGCGTGGTCTCGGTCATTG (p.Ile262_Ala263insGlyValValSerValIle) c.790_791insGCGTGGTCTCGGTCATTG (p.Gly264_Val265insValValSerValIleGly) c.787_788insGCGTGGTCTCGGTCATTG (p.Gly263_Val264insValValSerValIleGly) | dbSNP |
16 | g.56870672_56870689dup | CA2695223676 | SLC12A3 | c.788_805dup (p.Val268_Thr269insIleAlaValValSerVal) c.785_802dup (p.Val267_Thr268insIleAlaValValSerVal) |