Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.74421632_74422072del | CA2499226858 | SLC16A2 | c.-6_430+5del | ClinVar dbSNP |
X | g.74422008_74422015del | CA2695234499 | SLC16A2 | c.371_378del (p.Leu124HisfsTer?) c.117_124del | |
X | g.74422015C>A | CA517464532 | SLC16A2 | c.378C>A (p.Ser126=) c.124C>A | |
X | g.74422015C>G | CA517464537 | SLC16A2 | c.378C>G (p.Ser126=) c.124C>G | |
X | g.74422015C>T | CA517464533 | SLC16A2 | c.378C>T (p.Ser126=) c.124C>T | |
X | g.74422016A>C | CA413656366 | SLC16A2 | c.379A>C (p.Met127Leu) c.125A>C | |
X | g.74422016A>G | CA413656367 | SLC16A2 | c.379A>G (p.Met127Val) c.125A>G | |
X | g.74422016A>T | CA413656368 | SLC16A2 | c.379A>T (p.Met127Leu) c.125A>T | |
X | g.74422017T>A | CA413656369 | SLC16A2 | c.380T>A (p.Met127Lys) c.126T>A | |
X | g.74422017T>C | CA413656370 | SLC16A2 | c.380T>C (p.Met127Thr) c.126T>C | |
X | g.74422017T>G | CA413656371 | SLC16A2 | c.380T>G (p.Met127Arg) c.126T>G | |
X | g.74422018G>A | CA413656372 | SLC16A2 | c.381G>A (p.Met127Ile) c.127G>A | |
X | g.74422018G>C | CA413656374 | SLC16A2 | c.381G>C (p.Met127Ile) c.127G>C | |
X | g.74422018G>T | CA413656373 | SLC16A2 | c.381G>T (p.Met127Ile) c.127G>T | |
X | g.74422019C>A | CA413656375 | SLC16A2 | c.382C>A (p.Leu128Met) c.128C>A | |
X | g.74422019C>G | CA413656376 | SLC16A2 | c.382C>G (p.Leu128Val) c.128C>G | |
X | g.74422019C>T | CA517464544 | SLC16A2 | c.382C>T (p.Leu128=) c.128C>T | |
X | g.74422020T>A | CA413656377 | SLC16A2 | c.383T>A (p.Leu128Gln) c.129T>A | |
X | g.74422020T>C | CA413656378 | SLC16A2 | c.383T>C (p.Leu128Pro) c.129T>C | ClinVar dbSNP |
X | g.74422020T>G | CA413656379 | SLC16A2 | c.383T>G (p.Leu128Arg) c.129T>G | |
X | g.74422020T= | CA2437472674 | SLC16A2 | c.383T= (p.Leu128=) c.129T= | |
X | g.74422021G>A | CA517464546 | SLC16A2 | c.384G>A (p.Leu128=) c.130G>A | |
X | g.74422021G>C | CA517464548 | SLC16A2 | c.384G>C (p.Leu128=) c.130G>C | |
X | g.74422021G>T | CA517464556 | SLC16A2 | c.384G>T (p.Leu128=) c.130G>T | gnomAD v4 |
X | g.74422022C>A | CA413656380 | SLC16A2 | c.385C>A (p.Leu129Ile) c.131C>A | |
X | g.74422022C= | CA2437472675 | SLC16A2 | c.385C= (p.Leu129=) c.131C= | |
X | g.74422022C>G | CA413656381 | SLC16A2 | c.385C>G (p.Leu129Val) c.131C>G | |
X | g.74422022C>T | CA517464557 | SLC16A2 | c.385C>T (p.Leu129=) c.131C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.74422023T>A | CA413656382 | SLC16A2 | c.386T>A (p.Leu129Gln) c.132T>A | |
X | g.74422023T>C | CA413656383 | SLC16A2 | c.386T>C (p.Leu129Pro) c.132T>C | |
X | g.74422023T>G | CA413656384 | SLC16A2 | c.386T>G (p.Leu129Arg) c.132T>G | |
X | g.74422024A>C | CA517464560 | SLC16A2 | c.387A>C (p.Leu129=) c.133A>C | |
X | g.74422024A>G | CA517464563 | SLC16A2 | c.387A>G (p.Leu129=) c.133A>G | gnomAD v3 gnomAD v4 |
X | g.74422024A>T | CA517464558 | SLC16A2 | c.387A>T (p.Leu129=) c.133A>T | |
X | g.74422025G>A | CA413656387 | SLC16A2 | c.388G>A (p.Glu130Lys) c.134G>A | |
X | g.74422025G>C | CA413656386 | SLC16A2 | c.388G>C (p.Glu130Gln) c.134G>C | gnomAD v3 gnomAD v4 |
X | g.74422025G>T | CA413656385 | SLC16A2 | c.388G>T (p.Glu130Ter) c.134G>T | |
X | g.74422026A>C | CA413656388 | SLC16A2 | c.389A>C (p.Glu130Ala) c.135A>C | |
X | g.74422026A>G | CA413656389 | SLC16A2 | c.389A>G (p.Glu130Gly) c.135A>G | |
X | g.74422026A>T | CA413656390 | SLC16A2 | c.389A>T (p.Glu130Val) c.135A>T | |
X | g.74422027G>A | CA517464567 | SLC16A2 | c.390G>A (p.Glu130=) c.136G>A | gnomAD v4 |
X | g.74422027G>C | CA413656391 | SLC16A2 | c.390G>C (p.Glu130Asp) c.136G>C | |
X | g.74422027G>T | CA413656392 | SLC16A2 | c.390G>T (p.Glu130Asp) c.136G>T | |
X | g.74422028G>A | CA413656393 | SLC16A2 | c.391G>A (p.Glu131Lys) c.137G>A | |
X | g.74422028G>C | CA413656394 | SLC16A2 | c.391G>C (p.Glu131Gln) c.137G>C | |
X | g.74422028G>T | CA413656395 | SLC16A2 | c.391G>T (p.Glu131Ter) c.137G>T | |
X | g.74422029A>C | CA413656396 | SLC16A2 | c.392A>C (p.Glu131Ala) c.138A>C | |
X | g.74422029A>G | CA413656397 | SLC16A2 | c.392A>G (p.Glu131Gly) c.138A>G | |
X | g.74422029A>T | CA413656398 | SLC16A2 | c.392A>T (p.Glu131Val) c.138A>T | |
X | g.74422030G>A | CA517464574 | SLC16A2 | c.393G>A (p.Glu131=) c.139G>A | |
X | g.74422030G>C | CA413656399 | SLC16A2 | c.393G>C (p.Glu131Asp) c.139G>C | |
X | g.74422030G= | CA2437472676 | SLC16A2 | c.393G= (p.Glu131=) c.139G= | |
X | g.74422030G>T | CA413656400 | SLC16A2 | c.393G>T (p.Glu131Asp) c.139G>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.74422031G>A | CA10454398 | SLC16A2 | c.394G>A (p.Glu132Lys) c.140G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74422031G>C | CA413656402 | SLC16A2 | c.394G>C (p.Glu132Gln) c.140G>C | |
X | g.74422031G= | CA2437472677 | SLC16A2 | c.394G= (p.Glu132=) c.140G= | |
X | g.74422031G>T | CA413656401 | SLC16A2 | c.394G>T (p.Glu132Ter) c.140G>T | |
X | g.74422032A>C | CA413656403 | SLC16A2 | c.395A>C (p.Glu132Ala) c.141A>C | |
X | g.74422032A>G | CA413656404 | SLC16A2 | c.395A>G (p.Glu132Gly) c.141A>G | |
X | g.74422032A>T | CA413656405 | SLC16A2 | c.395A>T (p.Glu132Val) c.141A>T | |
X | g.74422033A>C | CA413656406 | SLC16A2 | c.396A>C (p.Glu132Asp) c.142A>C | |
X | g.74422033A>G | CA517464579 | SLC16A2 | c.396A>G (p.Glu132=) c.142A>G | |
X | g.74422033A>T | CA413656407 | SLC16A2 | c.396A>T (p.Glu132Asp) c.142A>T | |
X | g.74422034A>C | CA413656408 | SLC16A2 | c.397A>C (p.Lys133Gln) c.143A>C | |
X | g.74422034A>G | CA413656409 | SLC16A2 | c.397A>G (p.Lys133Glu) c.143A>G | |
X | g.74422034A>T | CA413656410 | SLC16A2 | c.397A>T (p.Lys133Ter) c.143A>T | |
X | g.74422035A>C | CA413656411 | SLC16A2 | c.398A>C (p.Lys133Thr) c.144A>C | |
X | g.74422035A>G | CA413656412 | SLC16A2 | c.398A>G (p.Lys133Arg) c.144A>G | gnomAD v3 gnomAD v4 |
X | g.74422035A>T | CA413656413 | SLC16A2 | c.398A>T (p.Lys133Met) c.144A>T | |
X | g.74422036G>A | CA517464584 | SLC16A2 | c.399G>A (p.Lys133=) c.145G>A | gnomAD v3 gnomAD v4 |
X | g.74422036G>C | CA413656414 | SLC16A2 | c.399G>C (p.Lys133Asn) c.145G>C | |
X | g.74422036G>T | CA413656415 | SLC16A2 | c.399G>T (p.Lys133Asn) c.145G>T | |
X | g.74422037G>A | CA413656416 | SLC16A2 | c.400G>A (p.Glu134Lys) c.146G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.74422037G>C | CA413656418 | SLC16A2 | c.400G>C (p.Glu134Gln) c.146G>C | |
X | g.74422037G= | CA2437472678 | SLC16A2 | c.400G= (p.Glu134=) c.146G= | |
X | g.74422037G>T | CA413656417 | SLC16A2 | c.400G>T (p.Glu134Ter) c.146G>T | |
X | g.74422038A= | CA2437472679 | SLC16A2 | c.401A= (p.Glu134=) c.147A= | |
X | g.74422038A>C | CA413656419 | SLC16A2 | c.401A>C (p.Glu134Ala) c.147A>C | |
X | g.74422038A>G | CA10454399 | SLC16A2 | c.401A>G (p.Glu134Gly) c.147A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74422038A>T | CA413656420 | SLC16A2 | c.401A>T (p.Glu134Val) c.147A>T | |
X | g.74422044dup | CA517464587 | SLC16A2 | c.407dup (p.Asn136LysfsTer31) c.153dup | ClinVar dbSNP COSMIC |
X | g.74422044del | CA2573159668 | SLC16A2 | c.407del (p.Asn136IlefsTer18) c.153del | ClinVar dbSNP gnomAD v4 |
X | g.74422039A>C | CA413656421 | SLC16A2 | c.402A>C (p.Glu134Asp) c.148A>C | |
X | g.74422039A>G | CA517464590 | SLC16A2 | c.402A>G (p.Glu134=) c.148A>G | gnomAD v3 gnomAD v4 |
X | g.74422039A>T | CA413656422 | SLC16A2 | c.402A>T (p.Glu134Asp) c.148A>T | |
X | g.74422040A>C | CA413656423 | SLC16A2 | c.403A>C (p.Lys135Gln) c.149A>C | |
X | g.74422040A>G | CA413656424 | SLC16A2 | c.403A>G (p.Lys135Glu) c.149A>G | |
X | g.74422040A>T | CA413656425 | SLC16A2 | c.403A>T (p.Lys135Ter) c.149A>T | |
X | g.74422041A>C | CA413656426 | SLC16A2 | c.404A>C (p.Lys135Thr) c.150A>C | |
X | g.74422041A>G | CA413656427 | SLC16A2 | c.404A>G (p.Lys135Arg) c.150A>G | |
X | g.74422041A>T | CA413656428 | SLC16A2 | c.404A>T (p.Lys135Ile) c.150A>T | |
X | g.74422042A>C | CA413656429 | SLC16A2 | c.405A>C (p.Lys135Asn) c.151A>C | |
X | g.74422042A>G | CA517464597 | SLC16A2 | c.405A>G (p.Lys135=) c.151A>G | |
X | g.74422042A>T | CA413656430 | SLC16A2 | c.405A>T (p.Lys135Asn) c.151A>T | |
X | g.74422043A>C | CA413656431 | SLC16A2 | c.406A>C (p.Asn136His) c.152A>C | gnomAD v4 |
X | g.74422043A>G | CA413656432 | SLC16A2 | c.406A>G (p.Asn136Asp) c.152A>G | |
X | g.74422043A>T | CA413656433 | SLC16A2 | c.406A>T (p.Asn136Tyr) c.152A>T | |
X | g.74422044A>C | CA413656436 | SLC16A2 | c.407A>C (p.Asn136Thr) c.153A>C | |
X | g.74422044A>G | CA413656434 | SLC16A2 | c.407A>G (p.Asn136Ser) c.153A>G | |
X | g.74422044A>T | CA413656435 | SLC16A2 | c.407A>T (p.Asn136Ile) c.153A>T | |
X | g.74422044_74422045insG | CA2695234502 | SLC16A2 | c.407_408insG (p.Asn136LysfsTer31) c.153_154insG | |
X | g.74422045T>A | CA413656437 | SLC16A2 | c.408T>A (p.Asn136Lys) c.154T>A | |
X | g.74422045T>C | CA517464601 | SLC16A2 | c.408T>C (p.Asn136=) c.154T>C | |
X | g.74422045T>G | CA413656438 | SLC16A2 | c.408T>G (p.Asn136Lys) c.154T>G | |
X | g.74422047_74422060del | CA2695234501 | SLC16A2 | c.410_423del (p.Arg137ProfsTer25) c.156_169del | |
X | g.74422046C>A | CA413656439 | SLC16A2 | c.409C>A (p.Arg137Ser) c.155C>A | |
X | g.74422046C>G | CA413656440 | SLC16A2 | c.409C>G (p.Arg137Gly) c.155C>G | |
X | g.74422046C>T | CA413656441 | SLC16A2 | c.409C>T (p.Arg137Cys) c.155C>T | |
X | g.74422047G>A | CA413656442 | SLC16A2 | c.410G>A (p.Arg137His) c.156G>A | dbSNP gnomAD v4 |
X | g.74422047G>C | CA413656443 | SLC16A2 | c.410G>C (p.Arg137Pro) c.156G>C | |
X | g.74422047G= | CA2437472680 | SLC16A2 | c.410G= (p.Arg137=) c.156G= | |
X | g.74422047G>T | CA10454400 | SLC16A2 | c.410G>T (p.Arg137Leu) c.156G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74422048C>A | CA517464606 | SLC16A2 | c.411C>A (p.Arg137=) c.157C>A | gnomAD v3 gnomAD v4 |
X | g.74422048C>G | CA517464607 | SLC16A2 | c.411C>G (p.Arg137=) c.157C>G | |
X | g.74422048C>T | CA517464608 | SLC16A2 | c.411C>T (p.Arg137=) c.157C>T | |
X | g.74422048_74422049del | CA2694114361 | SLC16A2 | c.411_412del (p.Gln138SerfsTer28) c.157_158del | gnomAD v4 |
X | g.74422049C>A | CA413656444 | SLC16A2 | c.412C>A (p.Gln138Lys) c.158C>A | |
X | g.74422049C= | CA2437472681 | SLC16A2 | c.412C= (p.Gln138=) c.158C= | |
X | g.74422049C>G | CA222960 | SLC16A2 | c.412C>G (p.Gln138Glu) c.158C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74422049C>T | CA413656445 | SLC16A2 | c.412C>T (p.Gln138Ter) c.158C>T | |
X | g.74422050A= | CA2437472682 | SLC16A2 | c.413A= (p.Gln138=) c.159A= | |
X | g.74422050A>C | CA413656447 | SLC16A2 | c.413A>C (p.Gln138Pro) c.159A>C | |
X | g.74422050A>G | CA413656448 | SLC16A2 | c.413A>G (p.Gln138Arg) c.159A>G | dbSNP |
X | g.74422050A>T | CA413656446 | SLC16A2 | c.413A>T (p.Gln138Leu) c.159A>T | |
X | g.74422051A>C | CA413656449 | SLC16A2 | c.414A>C (p.Gln138His) c.160A>C | |
X | g.74422051A>G | CA517464612 | SLC16A2 | c.414A>G (p.Gln138=) c.160A>G | |
X | g.74422051A>T | CA413656450 | SLC16A2 | c.414A>T (p.Gln138His) c.160A>T | |
X | g.74422052G>A | CA413656451 | SLC16A2 | c.415G>A (p.Val139Met) c.161G>A | |
X | g.74422052G>C | CA413656452 | SLC16A2 | c.415G>C (p.Val139Leu) c.161G>C | gnomAD v4 |
X | g.74422052G>T | CA413656453 | SLC16A2 | c.415G>T (p.Val139Leu) c.161G>T | |
X | g.74422053T>A | CA413656454 | SLC16A2 | c.416T>A (p.Val139Glu) c.162T>A | |
X | g.74422053T>C | CA413656455 | SLC16A2 | c.416T>C (p.Val139Ala) c.162T>C | |
X | g.74422053T>G | CA413656456 | SLC16A2 | c.416T>G (p.Val139Gly) c.162T>G | |
X | g.74422054G>A | CA517464621 | SLC16A2 | c.417G>A (p.Val139=) c.163G>A | |
X | g.74422054G>C | CA517464620 | SLC16A2 | c.417G>C (p.Val139=) c.163G>C | |
X | g.74422054G>T | CA517464619 | SLC16A2 | c.417G>T (p.Val139=) c.163G>T | |
X | g.74422055G>A | CA413656457 | SLC16A2 | c.418G>A (p.Glu140Lys) c.164G>A | |
X | g.74422055G>C | CA413656458 | SLC16A2 | c.418G>C (p.Glu140Gln) c.164G>C | |
X | g.74422055G>T | CA413656459 | SLC16A2 | c.418G>T (p.Glu140Ter) c.164G>T | |
X | g.74422056A>C | CA413656461 | SLC16A2 | c.419A>C (p.Glu140Ala) c.165A>C | gnomAD v4 |
X | g.74422056A>G | CA413656462 | SLC16A2 | c.419A>G (p.Glu140Gly) c.165A>G | |
X | g.74422056A>T | CA413656460 | SLC16A2 | c.419A>T (p.Glu140Val) c.165A>T | |
X | g.74422057G>A | CA517464627 | SLC16A2 | c.420G>A (p.Glu140=) c.166G>A | |
X | g.74422057G>C | CA413656463 | SLC16A2 | c.420G>C (p.Glu140Asp) c.166G>C | |
X | g.74422057G>T | CA413656464 | SLC16A2 | c.420G>T (p.Glu140Asp) c.166G>T | |
X | g.74422058T>A | CA413656465 | SLC16A2 | c.421T>A (p.Phe141Ile) c.167T>A | |
X | g.74422058T>C | CA413656466 | SLC16A2 | c.421T>C (p.Phe141Leu) c.167T>C | gnomAD v4 |
X | g.74422058T>G | CA413656467 | SLC16A2 | c.421T>G (p.Phe141Val) c.167T>G | |
X | g.74422059T>A | CA413656470 | SLC16A2 | c.422T>A (p.Phe141Tyr) c.168T>A | |
X | g.74422059T>C | CA413656468 | SLC16A2 | c.422T>C (p.Phe141Ser) c.168T>C | |
X | g.74422059T>G | CA413656469 | SLC16A2 | c.422T>G (p.Phe141Cys) c.168T>G | |
X | g.74422060C>A | CA413656471 | SLC16A2 | c.423C>A (p.Phe141Leu) c.169C>A | |
X | g.74422060C= | CA2437472683 | SLC16A2 | c.423C= (p.Phe141=) c.169C= | |
X | g.74422060C>G | CA413656472 | SLC16A2 | c.423C>G (p.Phe141Leu) c.169C>G | |
X | g.74422060C>T | CA517464634 | SLC16A2 | c.423C>T (p.Phe141=) c.169C>T | dbSNP |
X | g.74422061C>A | CA413656473 | SLC16A2 | c.424C>A (p.Gln142Lys) c.170C>A | |
X | g.74422061C>G | CA413656474 | SLC16A2 | c.424C>G (p.Gln142Glu) c.170C>G | |
X | g.74422061C>T | CA413656475 | SLC16A2 | c.424C>T (p.Gln142Ter) c.170C>T | |
X | g.74422062A>C | CA413656478 | SLC16A2 | c.425A>C (p.Gln142Pro) c.171A>C | |
X | g.74422062A>G | CA413656477 | SLC16A2 | c.425A>G (p.Gln142Arg) c.171A>G | |
X | g.74422062A>T | CA413656476 | SLC16A2 | c.425A>T (p.Gln142Leu) c.171A>T | |
X | g.74422063A>C | CA413656479 | SLC16A2 | c.426A>C (p.Gln142His) c.172A>C | |
X | g.74422063A>G | CA517464636 | SLC16A2 | c.426A>G (p.Gln142=) c.172A>G | |
X | g.74422063A>T | CA413656480 | SLC16A2 | c.426A>T (p.Gln142His) c.172A>T | |
X | g.74422064G>A | CA413656481 | SLC16A2 | c.427G>A (p.Ala143Thr) c.173G>A | |
X | g.74422064G>C | CA413656482 | SLC16A2 | c.427G>C (p.Ala143Pro) c.173G>C | |
X | g.74422064G>T | CA413656483 | SLC16A2 | c.427G>T (p.Ala143Ser) c.173G>T | |
X | g.74422064_74422086del | CA2695234503 | SLC16A2 | c.427_430+19del c.173_176+19del | |
X | g.74422065C>A | CA413656484 | SLC16A2 | c.428C>A (p.Ala143Glu) c.174C>A | |
X | g.74422065C>G | CA413656485 | SLC16A2 | c.428C>G (p.Ala143Gly) c.174C>G | |
X | g.74422065C>T | CA413656486 | SLC16A2 | c.428C>T (p.Ala143Val) c.174C>T | ClinVar dbSNP |
X | g.74422066A>C | CA517464641 | SLC16A2 | c.429A>C (p.Ala143=) c.175A>C | |
X | g.74422066A>G | CA517464642 | SLC16A2 | c.429A>G (p.Ala143=) c.175A>G | gnomAD v4 |
X | g.74422066A>T | CA517464643 | SLC16A2 | c.429A>T (p.Ala143=) c.175A>T | |
X | g.74422067G>A | CA413656487 | SLC16A2 | c.430G>A (p.Ala144Thr) c.176G>A | |
X | g.74422067G>C | CA413656488 | SLC16A2 | c.430G>C (p.Ala144Pro) c.176G>C | |
X | g.74422067G>T | CA413656489 | SLC16A2 | c.430G>T (p.Ala144Ser) c.176G>T | |
X | g.74422068G>A | CA413656490 | SLC16A2 | c.430+1G>A (n.430+1G>A) c.176+1G>A | |
X | g.74422068G>C | CA413656491 | SLC16A2 | c.430+1G>C (n.430+1G>C) c.176+1G>C | |
X | g.74422068G>T | CA413656492 | SLC16A2 | c.430+1G>T (n.430+1G>T) c.176+1G>T | |
X | g.74422069T>A | CA413656495 | SLC16A2 | c.430+2T>A (n.430+2T>A) c.176+2T>A | |
X | g.74422069T>C | CA413656494 | SLC16A2 | c.430+2T>C (n.430+2T>C) c.176+2T>C | |
X | g.74422069T>G | CA413656493 | SLC16A2 | c.430+2T>G (n.430+2T>G) c.176+2T>G | |
X | g.74422070G>T | CA2694114362 | SLC16A2 | c.430+3G>T (n.430+3G>T) c.176+3G>T | gnomAD v4 |
X | g.74422072G>A | CA2437472685 | SLC16A2 | c.430+5G>A (n.430+5G>A) c.176+5G>A | dbSNP |
X | g.74422072G= | CA2437472684 | SLC16A2 | c.430+5G= (n.430+5G=) c.176+5G= | |
X | g.74422072G>T | CA891843972 | SLC16A2 | c.430+5G>T (n.430+5G>T) c.176+5G>T | ClinVar dbSNP |
X | g.74422073T>C | CA10454401 | SLC16A2 | c.430+6T>C (n.430+6T>C) c.176+6T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74422073T= | CA2437472687 | SLC16A2 | c.430+6T= (n.430+6T=) c.176+6T= | |
X | g.74422073_74422083delinsTGGCCCCGCAC | CA2437472686 | SLC16A2 | c.430+6_430+16delinsTGGCCCCGCAC (n.430+6_430+16delinsTGGCCCCGCAC) c.176+6_176+16delinsTGGCCCCGCAC | |
X | g.74422074G>A | CA10454402 | SLC16A2 | c.430+7G>A (n.430+7G>A) c.176+7G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74422074G= | CA2437472689 | SLC16A2 | c.430+7G= (n.430+7G=) c.176+7G= | |
X | g.74422074G>T | CA2694114363 | SLC16A2 | c.430+7G>T (n.430+7G>T) c.176+7G>T | gnomAD v4 |
X | g.74422075_74422084del | CA2437472688 | SLC16A2 | c.430+8_430+17del (n.430+8_430+17del) c.176+8_176+17del | dbSNP gnomAD v4 |
X | g.74422075G>A | CA2579647049 | SLC16A2 | c.430+8G>A (n.430+8G>A) c.176+8G>A | |
X | g.74422077C>A | CA2694114364 | SLC16A2 | c.430+10C>A (n.430+10C>A) c.176+10C>A | gnomAD v4 |
X | g.74422077C>T | CA2738715366 | SLC16A2 | c.430+10C>T (n.430+10C>T) c.176+10C>T | dbSNP |
X | g.74422078C>T | CA2579647050 | SLC16A2 | c.430+11C>T (n.430+11C>T) c.176+11C>T | ClinVar |
X | g.74422079C>A | CA2694114365 | SLC16A2 | c.430+12C>A (n.430+12C>A) c.176+12C>A | gnomAD v4 |
X | g.74422079C= | CA2437472690 | SLC16A2 | c.430+12C= (n.430+12C=) c.176+12C= | |
X | g.74422079C>G | CA2694114366 | SLC16A2 | c.430+12C>G (n.430+12C>G) c.176+12C>G | gnomAD v4 |
X | g.74422079C>T | CA643005895 | SLC16A2 | c.430+12C>T (n.430+12C>T) c.176+12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74422080G>A | CA2579647051 | SLC16A2 | c.430+13G>A (n.430+13G>A) c.176+13G>A | gnomAD v4 |
X | g.74422081C>T | CA2694114367 | SLC16A2 | c.430+14C>T (n.430+14C>T) c.176+14C>T | gnomAD v4 |
X | g.74422083C>A | CA878055550 | SLC16A2 | c.430+16C>A (n.430+16C>A) c.176+16C>A | dbSNP |
X | g.74422083C= | CA2437472691 | SLC16A2 | c.430+16C= (n.430+16C=) c.176+16C= | |
X | g.74422083C>G | CA2694114368 | SLC16A2 | c.430+16C>G (n.430+16C>G) c.176+16C>G | gnomAD v4 |
X | g.74422084G>A | CA2694114369 | SLC16A2 | c.430+17G>A (n.430+17G>A) c.176+17G>A | gnomAD v4 |
X | g.74422084G= | CA2437472692 | SLC16A2 | c.430+17G= (n.430+17G=) c.176+17G= | |
X | g.74422084G>T | CA10454403 | SLC16A2 | c.430+17G>T (n.430+17G>T) c.176+17G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74422085C>A | CA878055552 | SLC16A2 | c.430+18C>A (n.430+18C>A) c.176+18C>A | dbSNP gnomAD v4 |
X | g.74422085C= | CA2437472693 | SLC16A2 | c.430+18C= (n.430+18C=) c.176+18C= | |
X | g.74422088C>A | CA643005896 | SLC16A2 | c.430+21C>A (n.430+21C>A) c.176+21C>A | dbSNP gnomAD v2 |
X | g.74422088C= | CA2437472694 | SLC16A2 | c.430+21C= (n.430+21C=) c.176+21C= | |
X | g.74422089A= | CA2437472695 | SLC16A2 | c.430+22A= (n.430+22A=) c.176+22A= | |
X | g.74422089A>C | CA643005897 | SLC16A2 | c.430+22A>C (n.430+22A>C) c.176+22A>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.74422089A>T | CA878055553 | SLC16A2 | c.430+22A>T (n.430+22A>T) c.176+22A>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.74422091T>A | CA2694114370 | SLC16A2 | c.430+24T>A (n.430+24T>A) c.176+24T>A | gnomAD v4 |
X | g.74422091T>C | CA2694114371 | SLC16A2 | c.430+24T>C (n.430+24T>C) c.176+24T>C | gnomAD v4 |
X | g.74422092T>C | CA643005898 | SLC16A2 | c.430+25T>C (n.430+25T>C) c.176+25T>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.74422092T= | CA2437472696 | SLC16A2 | c.430+25T= (n.430+25T=) c.176+25T= | |
X | g.74422094G>A | CA878055561 | SLC16A2 | c.430+27G>A (n.430+27G>A) c.176+27G>A | dbSNP gnomAD v4 |
X | g.74422094G= | CA2437472697 | SLC16A2 | c.430+27G= (n.430+27G=) c.176+27G= | |
X | g.74422094G>T | CA2694114372 | SLC16A2 | c.430+27G>T (n.430+27G>T) c.176+27G>T | gnomAD v4 |
X | g.74422095C>A | CA2694114373 | SLC16A2 | c.430+28C>A (n.430+28C>A) c.176+28C>A | gnomAD v4 |
X | g.74422095C>T | CA2694114374 | SLC16A2 | c.430+28C>T (n.430+28C>T) c.176+28C>T | gnomAD v4 |
X | g.74422100T>G | CA10454404 | SLC16A2 | c.430+33T>G (n.430+33T>G) c.176+33T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.74422100T= | CA2437472698 | SLC16A2 | c.430+33T= (n.430+33T=) c.176+33T= | |
X | g.74422101G>A | CA643005899 | SLC16A2 | c.430+34G>A (n.430+34G>A) c.176+34G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74422101G= | CA2437472699 | SLC16A2 | c.430+34G= (n.430+34G=) c.176+34G= | |
X | g.74422102G>C | CA643005900 | SLC16A2 | c.430+35G>C (n.430+35G>C) c.176+35G>C | dbSNP gnomAD v2 gnomAD v4 |
X | g.74422102G= | CA2437472700 | SLC16A2 | c.430+35G= (n.430+35G=) c.176+35G= | |
X | g.74422103G>A | CA2694114375 | SLC16A2 | c.430+36G>A (n.430+36G>A) c.176+36G>A | gnomAD v4 |
X | g.74422107G>A | CA2694114376 | SLC16A2 | c.430+40G>A (n.430+40G>A) c.176+40G>A | gnomAD v4 |
X | g.74422107G>C | CA2694114377 | SLC16A2 | c.430+40G>C (n.430+40G>C) c.176+40G>C | gnomAD v4 |
X | g.74422108G>A | CA2579647052 | SLC16A2 | c.430+41G>A (n.430+41G>A) c.176+41G>A | gnomAD v4 |
X | g.74422109T>G | CA2694114378 | SLC16A2 | c.430+42T>G (n.430+42T>G) c.176+42T>G | gnomAD v4 |
X | g.74422112G>A | CA2694114379 | SLC16A2 | c.430+45G>A (n.430+45G>A) c.176+45G>A | gnomAD v4 |
X | g.74422113C>A | CA643005901 | SLC16A2 | c.430+46C>A (n.430+46C>A) c.176+46C>A | dbSNP gnomAD v2 |
X | g.74422113C= | CA2437472701 | SLC16A2 | c.430+46C= (n.430+46C=) c.176+46C= | |
X | g.74422113C>T | CA2509439169 | SLC16A2 | c.430+46C>T (n.430+46C>T) c.176+46C>T | gnomAD v4 |
X | g.74422114C>A | CA2694114380 | SLC16A2 | c.430+47C>A (n.430+47C>A) c.176+47C>A | gnomAD v4 |
X | g.74422114C= | CA2437472702 | SLC16A2 | c.430+47C= (n.430+47C=) c.176+47C= | |
X | g.74422114C>T | CA878055579 | SLC16A2 | c.430+47C>T (n.430+47C>T) c.176+47C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.74422115G>A | CA2579647053 | SLC16A2 | c.430+48G>A (n.430+48G>A) c.176+48G>A | gnomAD v4 |
X | g.74422115G>C | CA10454405 | SLC16A2 | c.430+48G>C (n.430+48G>C) c.176+48G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.74422115G= | CA2437472703 | SLC16A2 | c.430+48G= (n.430+48G=) c.176+48G= | |
X | g.74422115G>T | CA643005902 | SLC16A2 | c.430+48G>T (n.430+48G>T) c.176+48G>T | dbSNP gnomAD v2 |