X | g.74421632_74422072del | CA2499226858 | SLC16A2 | c.-6_430+5del
| ClinVar dbSNP |
X | g.74421761_74421790del | CA1134264631 | SLC16A2 | c.124_153del (p.Glu42_Pro51del)
| gnomAD v3 gnomAD v4 |
X | g.74421756_74421780delinsAGCCCGAGCCCGTGCCAGTGCCCCC | CA2437472571 | SLC16A2 | c.119_143delinsAGCCCGAGCCCGTGCCAGTGCCCCC (p.Glu40=)
| |
X | g.74421760_74421771del | CA2821813832 | SLC16A2 | c.123_134del (p.Glu42_Pro45del)
| |
X | g.74421767_74421790del | CA10454372 | SLC16A2 | c.130_153del (p.Val44_Pro51del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421766_74421795del | CA2694114356 | SLC16A2 | c.129_158del (p.Val44_Pro53del)
| gnomAD v4 |
X | g.74421772_74421777dup | CA2579647045 | SLC16A2 | c.135_140dup (p.Pro47_Pro48insValPro)
| |
X | g.74421771C>A | CA413655847 | SLC16A2 | c.134C>A (p.Pro45Gln)
| |
X | g.74421771C= | CA2437472579 | SLC16A2 | c.134C= (p.Pro45=)
| |
X | g.74421771C>G | CA413655849 | SLC16A2 | c.134C>G (p.Pro45Arg)
| |
X | g.74421771C>T | CA413655848 | SLC16A2 | c.134C>T (p.Pro45Leu)
| dbSNP |
X | g.74421772A>C | CA517464260 | SLC16A2 | c.135A>C (p.Pro45=)
| |
X | g.74421772A>G | CA517464261 | SLC16A2 | c.135A>G (p.Pro45=)
| gnomAD v4 |
X | g.74421772A>T | CA517464262 | SLC16A2 | c.135A>T (p.Pro45=)
| |
X | g.74421773G>A | CA413655850 | SLC16A2 | c.136G>A (p.Val46Met)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421773G>C | CA413655851 | SLC16A2 | c.136G>C (p.Val46Leu)
| |
X | g.74421773G= | CA2437472580 | SLC16A2 | c.136G= (p.Val46=)
| |
X | g.74421773G>T | CA413655852 | SLC16A2 | c.136G>T (p.Val46Leu)
| gnomAD v4 |
X | g.74421774T>A | CA413655853 | SLC16A2 | c.137T>A (p.Val46Glu)
| |
X | g.74421774T>C | CA413655854 | SLC16A2 | c.137T>C (p.Val46Ala)
| |
X | g.74421774T>G | CA413655855 | SLC16A2 | c.137T>G (p.Val46Gly)
| |
X | g.74421775G>A | CA517464266 | SLC16A2 | c.138G>A (p.Val46=)
| |
X | g.74421775G>C | CA517464267 | SLC16A2 | c.138G>C (p.Val46=)
| |
X | g.74421775G>T | CA517464268 | SLC16A2 | c.138G>T (p.Val46=)
| gnomAD v4 |
X | g.74421776C>A | CA413655856 | SLC16A2 | c.139C>A (p.Pro47Thr)
| gnomAD v4 |
X | g.74421776C= | CA2437472581 | SLC16A2 | c.139C= (p.Pro47=)
| |
X | g.74421776C>G | CA413655857 | SLC16A2 | c.139C>G (p.Pro47Ala)
| |
X | g.74421776C>T | CA413655858 | SLC16A2 | c.139C>T (p.Pro47Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421780dup | CA2695234493 | SLC16A2 | c.143dup (p.Pro49AlafsTer?)
| |
X | g.74421780del | CA2579647046 | SLC16A2 | c.143del (p.Pro48ArgfsTer?)
| gnomAD v4 |
X | g.74421777C>A | CA413655859 | SLC16A2 | c.140C>A (p.Pro47His)
| gnomAD v4 |
X | g.74421777C>G | CA413655860 | SLC16A2 | c.140C>G (p.Pro47Arg)
| |
X | g.74421777C>T | CA413655861 | SLC16A2 | c.140C>T (p.Pro47Leu)
| gnomAD v4 |
X | g.74421778C>A | CA517464270 | SLC16A2 | c.141C>A (p.Pro47=)
| gnomAD v4 |
X | g.74421778C= | CA2437472582 | SLC16A2 | c.141C= (p.Pro47=)
| |
X | g.74421778C>G | CA517464271 | SLC16A2 | c.141C>G (p.Pro47=)
| |
X | g.74421778C>T | CA10454377 | SLC16A2 | c.141C>T (p.Pro47=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421779C>A | CA413655862 | SLC16A2 | c.142C>A (p.Pro48Thr)
| gnomAD v4 |
X | g.74421779C= | CA2437472583 | SLC16A2 | c.142C= (p.Pro48=)
| |
X | g.74421779C>G | CA413655863 | SLC16A2 | c.142C>G (p.Pro48Ala)
| dbSNP |
X | g.74421779C>T | CA413655864 | SLC16A2 | c.142C>T (p.Pro48Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421780C>A | CA413655865 | SLC16A2 | c.143C>A (p.Pro48Gln)
| gnomAD v4 |
X | g.74421780C>G | CA413655866 | SLC16A2 | c.143C>G (p.Pro48Arg)
| |
X | g.74421780C>T | CA413655867 | SLC16A2 | c.143C>T (p.Pro48Leu)
| |
X | g.74421781G>A | CA517464276 | SLC16A2 | c.144G>A (p.Pro48=)
| gnomAD v4 |
X | g.74421781G>C | CA517464277 | SLC16A2 | c.144G>C (p.Pro48=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421781G= | CA2437472584 | SLC16A2 | c.144G= (p.Pro48=)
| |
X | g.74421781G>T | CA517464278 | SLC16A2 | c.144G>T (p.Pro48=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421782C>A | CA413655868 | SLC16A2 | c.145C>A (p.Pro49Thr)
| |
X | g.74421782C>G | CA413655869 | SLC16A2 | c.145C>G (p.Pro49Ala)
| |
X | g.74421782C>T | CA413655870 | SLC16A2 | c.145C>T (p.Pro49Ser)
| |
X | g.74421783C>A | CA413655871 | SLC16A2 | c.146C>A (p.Pro49His)
| |
X | g.74421783C= | CA2437472585 | SLC16A2 | c.146C= (p.Pro49=)
| |
X | g.74421783C>G | CA413655872 | SLC16A2 | c.146C>G (p.Pro49Arg)
| |
X | g.74421783C>T | CA413655873 | SLC16A2 | c.146C>T (p.Pro49Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421784C>A | CA517464282 | SLC16A2 | c.147C>A (p.Pro49=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421784C= | CA2437472587 | SLC16A2 | c.147C= (p.Pro49=)
| |
X | g.74421784C>G | CA517464283 | SLC16A2 | c.147C>G (p.Pro49=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.74421784C>T | CA517464284 | SLC16A2 | c.147C>T (p.Pro49=)
| |
X | g.74421784_74421796delinsCGAGCCCCAGCCG | CA2437472586 | SLC16A2 | c.147_159delinsCGAGCCCCAGCCG (p.Pro49=)
| |
X | g.74421785G>A | CA10454378 | SLC16A2 | c.148G>A (p.Glu50Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421785G>C | CA413655875 | SLC16A2 | c.148G>C (p.Glu50Gln)
| |
X | g.74421785G= | CA2437472589 | SLC16A2 | c.148G= (p.Glu50=)
| |
X | g.74421785G>T | CA413655874 | SLC16A2 | c.148G>T (p.Glu50Ter)
| gnomAD v4 |
X | g.74421796_74421807dup | CA643005911 | SLC16A2 | c.159_170dup (p.Pro57_Leu58insGluProGlnPro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421796_74421807del | CA2437472588 | SLC16A2 | c.159_170del (p.Glu54_Pro57del)
| dbSNP gnomAD v4 |
X | g.74421786A>C | CA413655878 | SLC16A2 | c.149A>C (p.Glu50Ala)
| dbSNP |
X | g.74421786A>G | CA413655876 | SLC16A2 | c.149A>G (p.Glu50Gly)
| |
X | g.74421786A>T | CA413655877 | SLC16A2 | c.149A>T (p.Glu50Val)
| |
X | g.74421787G>A | CA517464286 | SLC16A2 | c.150G>A (p.Glu50=)
| |
X | g.74421787G>C | CA413655879 | SLC16A2 | c.150G>C (p.Glu50Asp)
| |
X | g.74421787G>T | CA413655880 | SLC16A2 | c.150G>T (p.Glu50Asp)
| gnomAD v4 |
X | g.74421788C>A | CA413655881 | SLC16A2 | c.151C>A (p.Pro51Thr)
| gnomAD v4 |
X | g.74421788C= | CA2437472590 | SLC16A2 | c.151C= (p.Pro51=)
| |
X | g.74421788C>G | CA413655882 | SLC16A2 | c.151C>G (p.Pro51Ala)
| |
X | g.74421788C>T | CA413655883 | SLC16A2 | c.151C>T (p.Pro51Ser)
| ClinVar dbSNP gnomAD v4 |
X | g.74421791del | CA2694114357 | SLC16A2 | c.154del (p.Gln52SerfsTer?)
| gnomAD v4 |
X | g.74421789C>A | CA413655884 | SLC16A2 | c.152C>A (p.Pro51His)
| gnomAD v4 |
X | g.74421789C>G | CA413655885 | SLC16A2 | c.152C>G (p.Pro51Arg)
| |
X | g.74421789C>T | CA413655886 | SLC16A2 | c.152C>T (p.Pro51Leu)
| |
X | g.74421789_74421790insTC | CA2695234494 | SLC16A2 | c.152_153insTC (p.Gln52ProfsTer?)
| |
X | g.74421790C>A | CA517464291 | SLC16A2 | c.153C>A (p.Pro51=)
| |
X | g.74421790C>G | CA517464293 | SLC16A2 | c.153C>G (p.Pro51=)
| gnomAD v4 |
X | g.74421790C>T | CA517464292 | SLC16A2 | c.153C>T (p.Pro51=)
| gnomAD v4 |
X | g.74421791C>A | CA413655887 | SLC16A2 | c.154C>A (p.Gln52Lys)
| gnomAD v4 |
X | g.74421791C= | CA2437472591 | SLC16A2 | c.154C= (p.Gln52=)
| |
X | g.74421791C>G | CA413655888 | SLC16A2 | c.154C>G (p.Gln52Glu)
| |
X | g.74421791C>T | CA413655889 | SLC16A2 | c.154C>T (p.Gln52Ter)
| ClinVar dbSNP |
X | g.74421792A>C | CA413655892 | SLC16A2 | c.155A>C (p.Gln52Pro)
| dbSNP |
X | g.74421792A>G | CA413655890 | SLC16A2 | c.155A>G (p.Gln52Arg)
| |
X | g.74421792A>T | CA413655891 | SLC16A2 | c.155A>T (p.Gln52Leu)
| |
X | g.74421793G>A | CA517464296 | SLC16A2 | c.156G>A (p.Gln52=)
| gnomAD v4 |
X | g.74421793G>C | CA413655893 | SLC16A2 | c.156G>C (p.Gln52His)
| |
X | g.74421793G>T | CA413655894 | SLC16A2 | c.156G>T (p.Gln52His)
| gnomAD v4 |
X | g.74421794C>A | CA413655895 | SLC16A2 | c.157C>A (p.Pro53Thr)
| gnomAD v4 |
X | g.74421794C>G | CA413655896 | SLC16A2 | c.157C>G (p.Pro53Ala)
| |
X | g.74421794C>T | CA413655897 | SLC16A2 | c.157C>T (p.Pro53Ser)
| |
X | g.74421795C>A | CA413655898 | SLC16A2 | c.158C>A (p.Pro53Gln)
| gnomAD v4 |
X | g.74421795C>G | CA413655899 | SLC16A2 | c.158C>G (p.Pro53Arg)
| |
X | g.74421795C>T | CA413655900 | SLC16A2 | c.158C>T (p.Pro53Leu)
| gnomAD v4 COSMIC |
X | g.74421796G>A | CA517464298 | SLC16A2 | c.159G>A (p.Pro53=)
| dbSNP gnomAD v4 |
X | g.74421796G>C | CA517464299 | SLC16A2 | c.159G>C (p.Pro53=)
| dbSNP |
X | g.74421796G= | CA2437472592 | SLC16A2 | c.159G= (p.Pro53=)
| |
X | g.74421796G>T | CA517464301 | SLC16A2 | c.159G>T (p.Pro53=)
| gnomAD v4 |
X | g.74421797G>A | CA413655901 | SLC16A2 | c.160G>A (p.Glu54Lys)
| |
X | g.74421797G>C | CA413655902 | SLC16A2 | c.160G>C (p.Glu54Gln)
| |
X | g.74421797G>T | CA413655903 | SLC16A2 | c.160G>T (p.Glu54Ter)
| |
X | g.74421798A>C | CA413655906 | SLC16A2 | c.161A>C (p.Glu54Ala)
| |
X | g.74421798A>G | CA413655905 | SLC16A2 | c.161A>G (p.Glu54Gly)
| |
X | g.74421798A>T | CA413655904 | SLC16A2 | c.161A>T (p.Glu54Val)
| |
X | g.74421799G>A | CA517464303 | SLC16A2 | c.162G>A (p.Glu54=)
| |
X | g.74421799G>C | CA413655907 | SLC16A2 | c.162G>C (p.Glu54Asp)
| |
X | g.74421799G= | CA2437472593 | SLC16A2 | c.162G= (p.Glu54=)
| |
X | g.74421799G>T | CA413655908 | SLC16A2 | c.162G>T (p.Glu54Asp)
| ClinVar |
X | g.74421800C>A | CA10454379 | SLC16A2 | c.163C>A (p.Pro55Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421800C= | CA2437472594 | SLC16A2 | c.163C= (p.Pro55=)
| |
X | g.74421800C>G | CA413655909 | SLC16A2 | c.163C>G (p.Pro55Ala)
| |
X | g.74421800C>T | CA413655910 | SLC16A2 | c.163C>T (p.Pro55Ser)
| gnomAD v4 |
X | g.74421803_74421820dup | CA643005912 | SLC16A2 | c.166_183dup (p.Pro61_Ala62insGlnProLeuProAspPro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421803_74421820del | CA2511557643 | SLC16A2 | c.166_183del (p.Gln56_Pro61del)
| |
X | g.74421801C>A | CA413655911 | SLC16A2 | c.164C>A (p.Pro55His)
| gnomAD v4 |
X | g.74421801C>G | CA413655912 | SLC16A2 | c.164C>G (p.Pro55Arg)
| |
X | g.74421801C>T | CA413655913 | SLC16A2 | c.164C>T (p.Pro55Leu)
| |
X | g.74421802C>A | CA517464308 | SLC16A2 | c.165C>A (p.Pro55=)
| gnomAD v4 |
X | g.74421802C= | CA2437472595 | SLC16A2 | c.165C= (p.Pro55=)
| |
X | g.74421802C>G | CA517464311 | SLC16A2 | c.165C>G (p.Pro55=)
| |
X | g.74421802C>T | CA517464309 | SLC16A2 | c.165C>T (p.Pro55=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421803C>A | CA413655914 | SLC16A2 | c.166C>A (p.Gln56Lys)
| |
X | g.74421803C= | CA2437472596 | SLC16A2 | c.166C= (p.Gln56=)
| |
X | g.74421803C>G | CA10454380 | SLC16A2 | c.166C>G (p.Gln56Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421803C>T | CA413655915 | SLC16A2 | c.166C>T (p.Gln56Ter)
| gnomAD v4 |
X | g.74421804A>C | CA413655916 | SLC16A2 | c.167A>C (p.Gln56Pro)
| dbSNP |
X | g.74421804A>G | CA413655917 | SLC16A2 | c.167A>G (p.Gln56Arg)
| gnomAD v4 |
X | g.74421804A>T | CA413655918 | SLC16A2 | c.167A>T (p.Gln56Leu)
| |
X | g.74421805G>A | CA517464312 | SLC16A2 | c.168G>A (p.Gln56=)
| |
X | g.74421805G>C | CA413655919 | SLC16A2 | c.168G>C (p.Gln56His)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.74421805G= | CA2437472597 | SLC16A2 | c.168G= (p.Gln56=)
| |
X | g.74421805G>T | CA413655920 | SLC16A2 | c.168G>T (p.Gln56His)
| |
X | g.74421806C>A | CA413655921 | SLC16A2 | c.169C>A (p.Pro57Thr)
| gnomAD v4 |
X | g.74421806C>G | CA413655922 | SLC16A2 | c.169C>G (p.Pro57Ala)
| |
X | g.74421806C>T | CA413655923 | SLC16A2 | c.169C>T (p.Pro57Ser)
| gnomAD v4 |
X | g.74421811_74421828del | CA2694114358 | SLC16A2 | c.174_191del (p.Pro59_Leu64del)
| gnomAD v4 |
X | g.74421807C>A | CA413655924 | SLC16A2 | c.170C>A (p.Pro57His)
| gnomAD v4 |
X | g.74421807C>G | CA413655925 | SLC16A2 | c.170C>G (p.Pro57Arg)
| |
X | g.74421807C>T | CA413655926 | SLC16A2 | c.170C>T (p.Pro57Leu)
| gnomAD v4 |
X | g.74421808C>A | CA517464317 | SLC16A2 | c.171C>A (p.Pro57=)
| gnomAD v4 |
X | g.74421808C>G | CA517464318 | SLC16A2 | c.171C>G (p.Pro57=)
| ClinVar dbSNP |
X | g.74421808C>T | CA517464319 | SLC16A2 | c.171C>T (p.Pro57=)
| |
X | g.74421809C>A | CA413655927 | SLC16A2 | c.172C>A (p.Leu58Ile)
| |
X | g.74421809C= | CA2437472598 | SLC16A2 | c.172C= (p.Leu58=)
| |
X | g.74421809C>G | CA413655928 | SLC16A2 | c.172C>G (p.Leu58Val)
| |
X | g.74421809C>T | CA10454381 | SLC16A2 | c.172C>T (p.Leu58=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421810T>A | CA413655929 | SLC16A2 | c.173T>A (p.Leu58Gln)
| |
X | g.74421810T>C | CA413655930 | SLC16A2 | c.173T>C (p.Leu58Pro)
| dbSNP gnomAD v4 |
X | g.74421810T>G | CA413655931 | SLC16A2 | c.173T>G (p.Leu58Arg)
| |
X | g.74421811A>C | CA517464326 | SLC16A2 | c.174A>C (p.Leu58=)
| |
X | g.74421811A>G | CA517464325 | SLC16A2 | c.174A>G (p.Leu58=)
| |
X | g.74421811A>T | CA517464324 | SLC16A2 | c.174A>T (p.Leu58=)
| |
X | g.74421812C>A | CA413655934 | SLC16A2 | c.175C>A (p.Pro59Thr)
| gnomAD v4 |
X | g.74421812C>G | CA413655933 | SLC16A2 | c.175C>G (p.Pro59Ala)
| |
X | g.74421812C>T | CA413655932 | SLC16A2 | c.175C>T (p.Pro59Ser)
| |
X | g.74421817_74421834del | CA2579647047 | SLC16A2 | c.180_197del (p.Asp60_Pro65del)
| |
X | g.74421813C>A | CA413655935 | SLC16A2 | c.176C>A (p.Pro59Gln)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.74421813C= | CA2437472599 | SLC16A2 | c.176C= (p.Pro59=)
| |
X | g.74421813C>G | CA413655937 | SLC16A2 | c.176C>G (p.Pro59Arg)
| |
X | g.74421813C>T | CA413655936 | SLC16A2 | c.176C>T (p.Pro59Leu)
| dbSNP gnomAD v4 |
X | g.74421814G>A | CA517464327 | SLC16A2 | c.177G>A (p.Pro59=)
| gnomAD v4 |
X | g.74421814G>C | CA517464328 | SLC16A2 | c.177G>C (p.Pro59=)
| gnomAD v4 |
X | g.74421814G>T | CA517464329 | SLC16A2 | c.177G>T (p.Pro59=)
| gnomAD v4 |
X | g.74421815G>A | CA413655938 | SLC16A2 | c.178G>A (p.Asp60Asn)
| |
X | g.74421815G>C | CA413655940 | SLC16A2 | c.178G>C (p.Asp60His)
| |
X | g.74421815G>T | CA413655939 | SLC16A2 | c.178G>T (p.Asp60Tyr)
| |
X | g.74421816A>C | CA413655941 | SLC16A2 | c.179A>C (p.Asp60Ala)
| |
X | g.74421816A>G | CA413655943 | SLC16A2 | c.179A>G (p.Asp60Gly)
| |
X | g.74421816A>T | CA413655942 | SLC16A2 | c.179A>T (p.Asp60Val)
| gnomAD v4 |
X | g.74421817C>A | CA413655944 | SLC16A2 | c.180C>A (p.Asp60Glu)
| COSMIC |
X | g.74421817C= | CA2437472600 | SLC16A2 | c.180C= (p.Asp60=)
| |
X | g.74421817C>G | CA413655945 | SLC16A2 | c.180C>G (p.Asp60Glu)
| |
X | g.74421817C>T | CA517464333 | SLC16A2 | c.180C>T (p.Asp60=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421820del | CA2694114359 | SLC16A2 | c.183del (p.Ala62HisfsTer22)
| gnomAD v4 |
X | g.74421818C>A | CA413655946 | SLC16A2 | c.181C>A (p.Pro61Thr)
| gnomAD v4 COSMIC |
X | g.74421818C>G | CA413655947 | SLC16A2 | c.181C>G (p.Pro61Ala)
| |
X | g.74421818C>T | CA413655948 | SLC16A2 | c.181C>T (p.Pro61Ser)
| gnomAD v4 |
X | g.74421819C>A | CA413655949 | SLC16A2 | c.182C>A (p.Pro61His)
| gnomAD v4 |
X | g.74421819C= | CA2437472601 | SLC16A2 | c.182C= (p.Pro61=)
| |
X | g.74421819C>G | CA413655950 | SLC16A2 | c.182C>G (p.Pro61Arg)
| |
X | g.74421819C>T | CA331275946 | SLC16A2 | c.182C>T (p.Pro61Leu)
| dbSNP |
X | g.74421820C>A | CA517464335 | SLC16A2 | c.183C>A (p.Pro61=)
| gnomAD v4 COSMIC |
X | g.74421820C>G | CA517464336 | SLC16A2 | c.183C>G (p.Pro61=)
| |
X | g.74421820C>T | CA517464337 | SLC16A2 | c.183C>T (p.Pro61=)
| |
X | g.74421821G>A | CA413655951 | SLC16A2 | c.184G>A (p.Ala62Thr)
| gnomAD v4 |
X | g.74421821G>C | CA413655952 | SLC16A2 | c.184G>C (p.Ala62Pro)
| gnomAD v4 |
X | g.74421821G= | CA2437472602 | SLC16A2 | c.184G= (p.Ala62=)
| |
X | g.74421821G>T | CA413655953 | SLC16A2 | c.184G>T (p.Ala62Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.74421822C>A | CA413655954 | SLC16A2 | c.185C>A (p.Ala62Glu)
| gnomAD v4 |
X | g.74421822C= | CA2437472603 | SLC16A2 | c.185C= (p.Ala62=)
| |
X | g.74421822C>G | CA413655956 | SLC16A2 | c.185C>G (p.Ala62Gly)
| |
X | g.74421822C>T | CA413655955 | SLC16A2 | c.185C>T (p.Ala62Val)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.74421823A>C | CA517464339 | SLC16A2 | c.186A>C (p.Ala62=)
| |
X | g.74421823A>G | CA517464340 | SLC16A2 | c.186A>G (p.Ala62=)
| |
X | g.74421823A>T | CA517464342 | SLC16A2 | c.186A>T (p.Ala62=)
| |
X | g.74421824C>A | CA413655957 | SLC16A2 | c.187C>A (p.Pro63Thr)
| |
X | g.74421824C>G | CA413655958 | SLC16A2 | c.187C>G (p.Pro63Ala)
| |
X | g.74421824C>T | CA413655959 | SLC16A2 | c.187C>T (p.Pro63Ser)
| |
X | g.74421825C>A | CA413655960 | SLC16A2 | c.188C>A (p.Pro63His)
| |
X | g.74421825C>G | CA413655961 | SLC16A2 | c.188C>G (p.Pro63Arg)
| |
X | g.74421825C>T | CA413655962 | SLC16A2 | c.188C>T (p.Pro63Leu)
| gnomAD v4 COSMIC |
X | g.74421826C>A | CA517464344 | SLC16A2 | c.189C>A (p.Pro63=)
| |
X | g.74421826C>G | CA517464345 | SLC16A2 | c.189C>G (p.Pro63=)
| |
X | g.74421826C>T | CA517464346 | SLC16A2 | c.189C>T (p.Pro63=)
| |
X | g.74421827C>A | CA413655963 | SLC16A2 | c.190C>A (p.Leu64Met)
| gnomAD v4 |
X | g.74421827C= | CA2437472604 | SLC16A2 | c.190C= (p.Leu64=)
| |
X | g.74421827C>G | CA413655964 | SLC16A2 | c.190C>G (p.Leu64Val)
| |
X | g.74421827C>T | CA10454382 | SLC16A2 | c.190C>T (p.Leu64=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421828T>A | CA413655966 | SLC16A2 | c.191T>A (p.Leu64Gln)
| |
X | g.74421828T>C | CA413655967 | SLC16A2 | c.191T>C (p.Leu64Pro)
| gnomAD v4 |
X | g.74421828T>G | CA413655965 | SLC16A2 | c.191T>G (p.Leu64Arg)
| |
X | g.74421829G>A | CA517464351 | SLC16A2 | c.192G>A (p.Leu64=)
| |
X | g.74421829G>C | CA517464352 | SLC16A2 | c.192G>C (p.Leu64=)
| |
X | g.74421829G>T | CA517464353 | SLC16A2 | c.192G>T (p.Leu64=)
| |
X | g.74421830C>A | CA413655968 | SLC16A2 | c.193C>A (p.Pro65Thr)
| |
X | g.74421830C>G | CA413655969 | SLC16A2 | c.193C>G (p.Pro65Ala)
| ClinVar |
X | g.74421830C>T | CA413655970 | SLC16A2 | c.193C>T (p.Pro65Ser)
| |
X | g.74421831del | CA2695234495 | SLC16A2 | c.194del (p.Pro65ArgfsTer19)
| |
X | g.74421831C>A | CA413655971 | SLC16A2 | c.194C>A (p.Pro65Gln)
| gnomAD v4 |
X | g.74421831C= | CA2437472605 | SLC16A2 | c.194C= (p.Pro65=)
| |
X | g.74421831C>G | CA10454383 | SLC16A2 | c.194C>G (p.Pro65Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421831C>T | CA413655972 | SLC16A2 | c.194C>T (p.Pro65Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421832G>A | CA517464358 | SLC16A2 | c.195G>A (p.Pro65=)
| gnomAD v4 |
X | g.74421832G>C | CA517464360 | SLC16A2 | c.195G>C (p.Pro65=)
| |
X | g.74421832G>T | CA517464359 | SLC16A2 | c.195G>T (p.Pro65=)
| |
X | g.74421833G>A | CA413655973 | SLC16A2 | c.196G>A (p.Glu66Lys)
| |
X | g.74421833G>C | CA413655974 | SLC16A2 | c.196G>C (p.Glu66Gln)
| |
X | g.74421833G>T | CA413655975 | SLC16A2 | c.196G>T (p.Glu66Ter)
| gnomAD v4 |
X | g.74421834A= | CA2437472606 | SLC16A2 | c.197A= (p.Glu66=)
| |
X | g.74421834A>C | CA413655976 | SLC16A2 | c.197A>C (p.Glu66Ala)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.74421834A>G | CA413655977 | SLC16A2 | c.197A>G (p.Glu66Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.74421834A>T | CA413655978 | SLC16A2 | c.197A>T (p.Glu66Val)
| |
X | g.74421835G>A | CA517464364 | SLC16A2 | c.198G>A (p.Glu66=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421835G>C | CA413655980 | SLC16A2 | c.198G>C (p.Glu66Asp)
| |
X | g.74421835G= | CA2437472607 | SLC16A2 | c.198G= (p.Glu66=)
| |
X | g.74421835G>T | CA413655979 | SLC16A2 | c.198G>T (p.Glu66Asp)
| |
X | g.74421836C>A | CA413655981 | SLC16A2 | c.199C>A (p.Leu67Met)
| gnomAD v4 |
X | g.74421836C>G | CA413655982 | SLC16A2 | c.199C>G (p.Leu67Val)
| |
X | g.74421836C>T | CA517464366 | SLC16A2 | c.199C>T (p.Leu67=)
| |
X | g.74421837T>A | CA413655983 | SLC16A2 | c.200T>A (p.Leu67Gln)
| |
X | g.74421837T>C | CA413655984 | SLC16A2 | c.200T>C (p.Leu67Pro)
| |
X | g.74421837T>G | CA413655985 | SLC16A2 | c.200T>G (p.Leu67Arg)
| |
X | g.74421838G>A | CA517464367 | SLC16A2 | c.201G>A (p.Leu67=)
| |
X | g.74421838G>C | CA517464368 | SLC16A2 | c.201G>C (p.Leu67=)
| |
X | g.74421838G>T | CA517464369 | SLC16A2 | c.201G>T (p.Leu67=)
| |
X | g.74421839G>A | CA331275947 | SLC16A2 | c.202G>A (p.Glu68Lys)
| ClinVar dbSNP gnomAD v4 |
X | g.74421839G>C | CA413655986 | SLC16A2 | c.202G>C (p.Glu68Gln)
| |
X | g.74421839G= | CA2437472608 | SLC16A2 | c.202G= (p.Glu68=)
| |
X | g.74421839G>T | CA413655987 | SLC16A2 | c.202G>T (p.Glu68Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.74421840A>C | CA413655988 | SLC16A2 | c.203A>C (p.Glu68Ala)
| gnomAD v4 |
X | g.74421840A>G | CA413655989 | SLC16A2 | c.203A>G (p.Glu68Gly)
| gnomAD v4 |
X | g.74421840A>T | CA413655990 | SLC16A2 | c.203A>T (p.Glu68Val)
| |
X | g.74421841G>A | CA331275948 | SLC16A2 | c.204G>A (p.Glu68=)
| dbSNP gnomAD v4 |
X | g.74421841G>C | CA413655991 | SLC16A2 | c.204G>C (p.Glu68Asp)
| |
X | g.74421841G= | CA2437472609 | SLC16A2 | c.204G= (p.Glu68=)
| |
X | g.74421841G>T | CA413655992 | SLC16A2 | c.204G>T (p.Glu68Asp)
| gnomAD v4 |
X | g.74421842T>A | CA413655994 | SLC16A2 | c.205T>A (p.Phe69Ile)
| |
X | g.74421842T>C | CA413655995 | SLC16A2 | c.205T>C (p.Phe69Leu)
| |
X | g.74421842T>G | CA413655993 | SLC16A2 | c.205T>G (p.Phe69Val)
| |
X | g.74421843T>A | CA413655998 | SLC16A2 | c.206T>A (p.Phe69Tyr)
| |
X | g.74421843T>C | CA413655996 | SLC16A2 | c.206T>C (p.Phe69Ser)
| |
X | g.74421843T>G | CA413655997 | SLC16A2 | c.206T>G (p.Phe69Cys)
| |
X | g.74421844C>A | CA413655999 | SLC16A2 | c.207C>A (p.Phe69Leu)
| gnomAD v4 |
X | g.74421844C= | CA2437472610 | SLC16A2 | c.207C= (p.Phe69=)
| |
X | g.74421844C>G | CA413656000 | SLC16A2 | c.207C>G (p.Phe69Leu)
| |
X | g.74421844C>T | CA517464375 | SLC16A2 | c.207C>T (p.Phe69=)
| dbSNP gnomAD v4 |
X | g.74421847_74421864dup | CA2694114360 | SLC16A2 | c.210_227dup (p.Glu76_Pro77insSerGluArgValHisGlu)
| gnomAD v4 |
X | g.74421845G>A | CA413656001 | SLC16A2 | c.208G>A (p.Glu70Lys)
| dbSNP |
X | g.74421845G>C | CA413656002 | SLC16A2 | c.208G>C (p.Glu70Gln)
| |
X | g.74421845G= | CA2437472611 | SLC16A2 | c.208G= (p.Glu70=)
| |
X | g.74421845G>T | CA413656003 | SLC16A2 | c.208G>T (p.Glu70Ter)
| |
X | g.74421846A>C | CA413656004 | SLC16A2 | c.209A>C (p.Glu70Ala)
| |
X | g.74421846A>G | CA413656005 | SLC16A2 | c.209A>G (p.Glu70Gly)
| |
X | g.74421846A>T | CA413656006 | SLC16A2 | c.209A>T (p.Glu70Val)
| |
X | g.74421847G>A | CA517464382 | SLC16A2 | c.210G>A (p.Glu70=)
| |
X | g.74421847G>C | CA413656007 | SLC16A2 | c.210G>C (p.Glu70Asp)
| |
X | g.74421847G>T | CA413656008 | SLC16A2 | c.210G>T (p.Glu70Asp)
| |
X | g.74421848T>A | CA413656010 | SLC16A2 | c.211T>A (p.Ser71Thr)
| |
X | g.74421848T>C | CA413656011 | SLC16A2 | c.211T>C (p.Ser71Pro)
| |
X | g.74421848T>G | CA413656009 | SLC16A2 | c.211T>G (p.Ser71Ala)
| |
X | g.74421849C>A | CA413656012 | SLC16A2 | c.212C>A (p.Ser71Tyr)
| gnomAD v4 |
X | g.74421849C>G | CA413656013 | SLC16A2 | c.212C>G (p.Ser71Cys)
| |
X | g.74421849C>T | CA413656014 | SLC16A2 | c.212C>T (p.Ser71Phe)
| |
X | g.74421850C>A | CA517464387 | SLC16A2 | c.213C>A (p.Ser71=)
| |
X | g.74421850C>G | CA517464388 | SLC16A2 | c.213C>G (p.Ser71=)
| gnomAD v4 |
X | g.74421850C>T | CA517464389 | SLC16A2 | c.213C>T (p.Ser71=)
| gnomAD v4 |
X | g.74421851G>A | CA413656015 | SLC16A2 | c.214G>A (p.Glu72Lys)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.74421851G>C | CA413656016 | SLC16A2 | c.214G>C (p.Glu72Gln)
| gnomAD v4 |
X | g.74421851G= | CA2437472612 | SLC16A2 | c.214G= (p.Glu72=)
| |
X | g.74421851G>T | CA413656017 | SLC16A2 | c.214G>T (p.Glu72Ter)
| gnomAD v4 |
X | g.74421852A>C | CA413656018 | SLC16A2 | c.215A>C (p.Glu72Ala)
| |
X | g.74421852A>G | CA413656020 | SLC16A2 | c.215A>G (p.Glu72Gly)
| |
X | g.74421852A>T | CA413656019 | SLC16A2 | c.215A>T (p.Glu72Val)
| |
X | g.74421853G>A | CA517464391 | SLC16A2 | c.216G>A (p.Glu72=)
| |
X | g.74421853G>C | CA413656021 | SLC16A2 | c.216G>C (p.Glu72Asp)
| dbSNP |
X | g.74421853G= | CA2437472613 | SLC16A2 | c.216G= (p.Glu72=)
| |
X | g.74421853G>T | CA413656022 | SLC16A2 | c.216G>T (p.Glu72Asp)
| |
X | g.74421854C>A | CA517464392 | SLC16A2 | c.217C>A (p.Arg73=)
| gnomAD v4 |
X | g.74421854C= | CA2437472614 | SLC16A2 | c.217C= (p.Arg73=)
| |
X | g.74421854C>G | CA413656023 | SLC16A2 | c.217C>G (p.Arg73Gly)
| gnomAD v4 |
X | g.74421854C>T | CA413656024 | SLC16A2 | c.217C>T (p.Arg73Trp)
| dbSNP gnomAD v4 |
X | g.74421855G>A | CA413656026 | SLC16A2 | c.218G>A (p.Arg73Gln)
| gnomAD v4 |
X | g.74421855G>C | CA10454384 | SLC16A2 | c.218G>C (p.Arg73Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421855G= | CA2437472615 | SLC16A2 | c.218G= (p.Arg73=)
| |
X | g.74421855G>T | CA413656025 | SLC16A2 | c.218G>T (p.Arg73Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.74421856G>A | CA517464397 | SLC16A2 | c.219G>A (p.Arg73=)
| dbSNP |
X | g.74421856G>C | CA517464398 | SLC16A2 | c.219G>C (p.Arg73=)
| |
X | g.74421856G= | CA2437472616 | SLC16A2 | c.219G= (p.Arg73=)
| |
X | g.74421856G>T | CA517464399 | SLC16A2 | c.219G>T (p.Arg73=)
| |
X | g.74421857G>A | CA413656027 | SLC16A2 | c.220G>A (p.Val74Met)
| gnomAD v4 |
X | g.74421857G>C | CA413656028 | SLC16A2 | c.220G>C (p.Val74Leu)
| |
X | g.74421857G>T | CA413656029 | SLC16A2 | c.220G>T (p.Val74Leu)
| |
X | g.74421858T>A | CA413656030 | SLC16A2 | c.221T>A (p.Val74Glu)
| |
X | g.74421858T>C | CA413656031 | SLC16A2 | c.221T>C (p.Val74Ala)
| |
X | g.74421858T>G | CA413656032 | SLC16A2 | c.221T>G (p.Val74Gly)
| |
X | g.74421859G>A | CA517464404 | SLC16A2 | c.222G>A (p.Val74=)
| |
X | g.74421859G>C | CA517464403 | SLC16A2 | c.222G>C (p.Val74=)
| |
X | g.74421859G>T | CA517464402 | SLC16A2 | c.222G>T (p.Val74=)
| |
X | g.74421860C>A | CA413656033 | SLC16A2 | c.223C>A (p.His75Asn)
| |
X | g.74421860C>G | CA413656034 | SLC16A2 | c.223C>G (p.His75Asp)
| |
X | g.74421860C>T | CA413656035 | SLC16A2 | c.223C>T (p.His75Tyr)
| gnomAD v4 |
X | g.74421861A>C | CA413656036 | SLC16A2 | c.224A>C (p.His75Pro)
| gnomAD v4 |
X | g.74421861A>G | CA413656037 | SLC16A2 | c.224A>G (p.His75Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.74421861A>T | CA413656038 | SLC16A2 | c.224A>T (p.His75Leu)
| |
X | g.74421862C>A | CA413656039 | SLC16A2 | c.225C>A (p.His75Gln)
| dbSNP |
X | g.74421862C= | CA2437472617 | SLC16A2 | c.225C= (p.His75=)
| |
X | g.74421862C>G | CA413656040 | SLC16A2 | c.225C>G (p.His75Gln)
| gnomAD v4 |
X | g.74421862C>T | CA10454385 | SLC16A2 | c.225C>T (p.His75=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74421863G>A | CA413656041 | SLC16A2 | c.226G>A (p.Glu76Lys)
| |
X | g.74421863G>C | CA413656042 | SLC16A2 | c.226G>C (p.Glu76Gln)
| |
X | g.74421863G>T | CA413656043 | SLC16A2 | c.226G>T (p.Glu76Ter)
| |
X | g.74421864A>C | CA413656044 | SLC16A2 | c.227A>C (p.Glu76Ala)
| |
X | g.74421864A>G | CA413656045 | SLC16A2 | c.227A>G (p.Glu76Gly)
| |
X | g.74421864A>T | CA413656046 | SLC16A2 | c.227A>T (p.Glu76Val)
| |
X | g.74421865A>C | CA413656047 | SLC16A2 | c.228A>C (p.Glu76Asp)
| |
X | g.74421865A>G | CA517464411 | SLC16A2 | c.228A>G (p.Glu76=)
| |
X | g.74421865A>T | CA413656048 | SLC16A2 | c.228A>T (p.Glu76Asp)
| |
X | g.74421866C>A | CA413656049 | SLC16A2 | c.229C>A (p.Pro77Thr)
| |
X | g.74421866C>G | CA413656050 | SLC16A2 | c.229C>G (p.Pro77Ala)
| |
X | g.74421866C>T | CA413656051 | SLC16A2 | c.229C>T (p.Pro77Ser)
| |
X | g.74421868del | CA2695234496 | SLC16A2 | c.231del (p.Glu78SerfsTer6)
| |
X | g.74421867C>A | CA413656052 | SLC16A2 | c.230C>A (p.Pro77His)
| |
X | g.74421867C>G | CA413656053 | SLC16A2 | c.230C>G (p.Pro77Arg)
| |
X | g.74421867C>T | CA413656054 | SLC16A2 | c.230C>T (p.Pro77Leu)
| |
X | g.74421868C>A | CA517464414 | SLC16A2 | c.231C>A (p.Pro77=)
| gnomAD v4 |
X | g.74421868C= | CA2437472618 | SLC16A2 | c.231C= (p.Pro77=)
| |
X | g.74421868C>G | CA10454386 | SLC16A2 | c.231C>G (p.Pro77=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74421868C>T | CA10454387 | SLC16A2 | c.231C>T (p.Pro77=)
| dbSNP ExAC |
X | g.74421869G>A | CA413656055 | SLC16A2 | c.232G>A (p.Glu78Lys)
| gnomAD v4 COSMIC |
X | g.74421869G>C | CA413656057 | SLC16A2 | c.232G>C (p.Glu78Gln)
| |
X | g.74421869G>T | CA413656056 | SLC16A2 | c.232G>T (p.Glu78Ter)
| ClinVar |
X | g.74421870A>C | CA413656058 | SLC16A2 | c.233A>C (p.Glu78Ala)
| |
X | g.74421870A>G | CA413656060 | SLC16A2 | c.233A>G (p.Glu78Gly)
| |
X | g.74421870A>T | CA413656059 | SLC16A2 | c.233A>T (p.Glu78Val)
| |
X | g.74421871G>A | CA517464416 | SLC16A2 | c.234G>A (p.Glu78=)
| ClinVar gnomAD v4 |
X | g.74421871G>C | CA413656061 | SLC16A2 | c.234G>C (p.Glu78Asp)
| |
X | g.74421871G>T | CA413656062 | SLC16A2 | c.234G>T (p.Glu78Asp)
| |