| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.45805951C>A | CA474036481 | SLC35C1 | c.111C>A (p.Val37=) c.150C>A (p.Val50=) | dbSNP |
| 11 | g.45805951C= | CA1968692716 | SLC35C1 | c.111C= (p.Val37=) c.150C= (p.Val50=) | |
| 11 | g.45805951C>G | CA474036482 | SLC35C1 | c.111C>G (p.Val37=) c.150C>G (p.Val50=) | |
| 11 | g.45805951C>T | CA474036486 | SLC35C1 | c.111C>T (p.Val37=) c.150C>T (p.Val50=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45805951_45805954del | CA2613258201 | SLC35C1 | c.111_114del (p.Thr38ProfsTer?) c.150_153del (p.Thr51ProfsTer?) | gnomAD v4 |
| 11 | g.45805952A= | CA1968692720 | SLC35C1 | c.112A= (p.Thr38=) c.151A= (p.Thr51=) | |
| 11 | g.45805952A>C | CA380202385 | SLC35C1 | c.112A>C (p.Thr38Pro) c.151A>C (p.Thr51Pro) | dbSNP |
| 11 | g.45805952A>G | CA5958193 | SLC35C1 | c.112A>G (p.Thr38Ala) c.151A>G (p.Thr51Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45805952A>T | CA380202384 | SLC35C1 | c.112A>T (p.Thr38Ser) c.151A>T (p.Thr51Ser) | |
| 11 | g.45805953C>A | CA380202386 | SLC35C1 | c.113C>A (p.Thr38Asn) c.152C>A (p.Thr51Asn) | |
| 11 | g.45805953C= | CA1968692726 | SLC35C1 | c.113C= (p.Thr38=) c.152C= (p.Thr51=) | |
| 11 | g.45805953C>G | CA380202387 | SLC35C1 | c.113C>G (p.Thr38Ser) c.152C>G (p.Thr51Ser) | dbSNP gnomAD v4 |
| 11 | g.45805953C>T | CA221585044 | SLC35C1 | c.113C>T (p.Thr38Ile) c.152C>T (p.Thr51Ile) | dbSNP |
| 11 | g.45805954C>A | CA474036487 | SLC35C1 | c.114C>A (p.Thr38=) c.153C>A (p.Thr51=) | |
| 11 | g.45805954C= | CA1968692729 | SLC35C1 | c.114C= (p.Thr38=) c.153C= (p.Thr51=) | |
| 11 | g.45805954C>G | CA5958194 | SLC35C1 | c.114C>G (p.Thr38=) c.153C>G (p.Thr51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45805954C>T | CA474036489 | SLC35C1 | c.114C>T (p.Thr38=) c.153C>T (p.Thr51=) | gnomAD v4 |
| 11 | g.45805955T>A | CA380202390 | SLC35C1 | c.115T>A (p.Ser39Thr) c.154T>A (p.Ser52Thr) | dbSNP |
| 11 | g.45805955T>C | CA380202389 | SLC35C1 | c.115T>C (p.Ser39Pro) c.154T>C (p.Ser52Pro) | gnomAD v4 |
| 11 | g.45805955T>G | CA380202388 | SLC35C1 | c.115T>G (p.Ser39Ala) c.154T>G (p.Ser52Ala) | |
| 11 | g.45805955T= | CA1968692731 | SLC35C1 | c.115T= (p.Ser39=) c.154T= (p.Ser52=) | |
| 11 | g.45805955_45805956insAAGGA | CA2613258202 | SLC35C1 | c.115_116insAAGGA (p.Ser39Ter) c.154_155insAAGGA (p.Ser52Ter) | gnomAD v4 |
| 11 | g.45805956C>A | CA380202391 | SLC35C1 | c.116C>A (p.Ser39Tyr) c.155C>A (p.Ser52Tyr) | dbSNP gnomAD v4 |
| 11 | g.45805956C= | CA1968692735 | SLC35C1 | c.116C= (p.Ser39=) c.155C= (p.Ser52=) | |
| 11 | g.45805956C>G | CA380202392 | SLC35C1 | c.116C>G (p.Ser39Cys) c.155C>G (p.Ser52Cys) | |
| 11 | g.45805956C>T | CA380202393 | SLC35C1 | c.116C>T (p.Ser39Phe) c.155C>T (p.Ser52Phe) | |
| 11 | g.45805957C>A | CA474036490 | SLC35C1 | c.117C>A (p.Ser39=) c.156C>A (p.Ser52=) | |
| 11 | g.45805957C>G | CA474036491 | SLC35C1 | c.117C>G (p.Ser39=) c.156C>G (p.Ser52=) | |
| 11 | g.45805957C>T | CA474036492 | SLC35C1 | c.117C>T (p.Ser39=) c.156C>T (p.Ser52=) | |
| 11 | g.45805958A>C | CA380202394 | SLC35C1 | c.118A>C (p.Ile40Leu) c.157A>C (p.Ile53Leu) | |
| 11 | g.45805958A>G | CA380202395 | SLC35C1 | c.118A>G (p.Ile40Val) c.157A>G (p.Ile53Val) | gnomAD v4 |
| 11 | g.45805958A>T | CA380202396 | SLC35C1 | c.118A>T (p.Ile40Phe) c.157A>T (p.Ile53Phe) | |
| 11 | g.45805959T>A | CA380202397 | SLC35C1 | c.119T>A (p.Ile40Asn) c.158T>A (p.Ile53Asn) | |
| 11 | g.45805959T>C | CA380202399 | SLC35C1 | c.119T>C (p.Ile40Thr) c.158T>C (p.Ile53Thr) | gnomAD v4 COSMIC |
| 11 | g.45805959T>G | CA380202398 | SLC35C1 | c.119T>G (p.Ile40Ser) c.158T>G (p.Ile53Ser) | |
| 11 | g.45805960C>A | CA474036494 | SLC35C1 | c.120C>A (p.Ile40=) c.159C>A (p.Ile53=) | |
| 11 | g.45805960C>G | CA380202400 | SLC35C1 | c.120C>G (p.Ile40Met) c.159C>G (p.Ile53Met) | |
| 11 | g.45805960C>T | CA474036495 | SLC35C1 | c.120C>T (p.Ile40=) c.159C>T (p.Ile53=) | |
| 11 | g.45805961T>A | CA380202401 | SLC35C1 | c.121T>A (p.Ser41Thr) c.160T>A (p.Ser54Thr) | |
| 11 | g.45805961T>C | CA380202402 | SLC35C1 | c.121T>C (p.Ser41Pro) c.160T>C (p.Ser54Pro) | |
| 11 | g.45805961T>G | CA380202403 | SLC35C1 | c.121T>G (p.Ser41Ala) c.160T>G (p.Ser54Ala) | |
| 11 | g.45805962C>A | CA380202404 | SLC35C1 | c.122C>A (p.Ser41Tyr) c.161C>A (p.Ser54Tyr) | |
| 11 | g.45805962C>G | CA380202405 | SLC35C1 | c.122C>G (p.Ser41Cys) c.161C>G (p.Ser54Cys) | gnomAD v4 |
| 11 | g.45805962C>T | CA380202406 | SLC35C1 | c.122C>T (p.Ser41Phe) c.161C>T (p.Ser54Phe) | gnomAD v4 |
| 11 | g.45805963C>A | CA474036496 | SLC35C1 | c.123C>A (p.Ser41=) c.162C>A (p.Ser54=) | |
| 11 | g.45805963C= | CA1968692737 | SLC35C1 | c.123C= (p.Ser41=) c.162C= (p.Ser54=) | |
| 11 | g.45805963C>G | CA474036499 | SLC35C1 | c.123C>G (p.Ser41=) c.162C>G (p.Ser54=) | |
| 11 | g.45805963C>T | CA5958195 | SLC35C1 | c.123C>T (p.Ser41=) c.162C>T (p.Ser54=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.45805964A= | CA1968692744 | SLC35C1 | c.124A= (p.Met42=) c.163A= (p.Met55=) | |
| 11 | g.45805964A>C | CA380202407 | SLC35C1 | c.124A>C (p.Met42Leu) c.163A>C (p.Met55Leu) | |
| 11 | g.45805964A>G | CA5958196 | SLC35C1 | c.124A>G (p.Met42Val) c.163A>G (p.Met55Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45805964A>T | CA380202408 | SLC35C1 | c.124A>T (p.Met42Leu) c.163A>T (p.Met55Leu) | |
| 11 | g.45805965T>A | CA380202411 | SLC35C1 | c.125T>A (p.Met42Lys) c.164T>A (p.Met55Lys) | |
| 11 | g.45805965T>C | CA380202410 | SLC35C1 | c.125T>C (p.Met42Thr) c.164T>C (p.Met55Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45805965T>G | CA380202409 | SLC35C1 | c.125T>G (p.Met42Arg) c.164T>G (p.Met55Arg) | |
| 11 | g.45805965T= | CA1968692750 | SLC35C1 | c.125T= (p.Met42=) c.164T= (p.Met55=) | |
| 11 | g.45805966G>A | CA221585056 | SLC35C1 | c.126G>A (p.Met42Ile) c.165G>A (p.Met55Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45805966G>C | CA380202413 | SLC35C1 | c.126G>C (p.Met42Ile) c.165G>C (p.Met55Ile) | |
| 11 | g.45805966G= | CA1968692755 | SLC35C1 | c.126G= (p.Met42=) c.165G= (p.Met55=) | |
| 11 | g.45805966G>T | CA380202412 | SLC35C1 | c.126G>T (p.Met42Ile) c.165G>T (p.Met55Ile) | |
| 11 | g.45805967G>A | CA380202414 | SLC35C1 | c.127G>A (p.Val43Met) c.166G>A (p.Val56Met) | |
| 11 | g.45805967G>C | CA380202415 | SLC35C1 | c.127G>C (p.Val43Leu) c.166G>C (p.Val56Leu) | |
| 11 | g.45805967G= | CA1968692762 | SLC35C1 | c.127G= (p.Val43=) c.166G= (p.Val56=) | |
| 11 | g.45805967G>T | CA221585058 | SLC35C1 | c.127G>T (p.Val43Leu) c.166G>T (p.Val56Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45805968T>A | CA380202416 | SLC35C1 | c.128T>A (p.Val43Glu) c.167T>A (p.Val56Glu) | |
| 11 | g.45805968T>C | CA380202417 | SLC35C1 | c.128T>C (p.Val43Ala) c.167T>C (p.Val56Ala) | |
| 11 | g.45805968T>G | CA380202418 | SLC35C1 | c.128T>G (p.Val43Gly) c.167T>G (p.Val56Gly) | |
| 11 | g.45805969G>A | CA474036503 | SLC35C1 | c.129G>A (p.Val43=) c.168G>A (p.Val56=) | dbSNP |
| 11 | g.45805969G>C | CA474036504 | SLC35C1 | c.129G>C (p.Val43=) c.168G>C (p.Val56=) | |
| 11 | g.45805969G= | CA1968692766 | SLC35C1 | c.129G= (p.Val43=) c.168G= (p.Val56=) | |
| 11 | g.45805969G>T | CA474036505 | SLC35C1 | c.129G>T (p.Val43=) c.168G>T (p.Val56=) | |
| 11 | g.45805970T>A | CA380202419 | SLC35C1 | c.130T>A (p.Phe44Ile) c.169T>A (p.Phe57Ile) | |
| 11 | g.45805970T>C | CA380202420 | SLC35C1 | c.130T>C (p.Phe44Leu) c.169T>C (p.Phe57Leu) | |
| 11 | g.45805970T>G | CA380202421 | SLC35C1 | c.130T>G (p.Phe44Val) c.169T>G (p.Phe57Val) | |
| 11 | g.45805971T>A | CA380202422 | SLC35C1 | c.131T>A (p.Phe44Tyr) c.170T>A (p.Phe57Tyr) | |
| 11 | g.45805971T>C | CA380202423 | SLC35C1 | c.131T>C (p.Phe44Ser) c.170T>C (p.Phe57Ser) | |
| 11 | g.45805971T>G | CA380202424 | SLC35C1 | c.131T>G (p.Phe44Cys) c.170T>G (p.Phe57Cys) | |
| 11 | g.45805972C>A | CA380202426 | SLC35C1 | c.132C>A (p.Phe44Leu) c.171C>A (p.Phe57Leu) | |
| 11 | g.45805972C= | CA1968692769 | SLC35C1 | c.132C= (p.Phe44=) c.171C= (p.Phe57=) | |
| 11 | g.45805972C>G | CA380202425 | SLC35C1 | c.132C>G (p.Phe44Leu) c.171C>G (p.Phe57Leu) | |
| 11 | g.45805972C>T | CA221585059 | SLC35C1 | c.132C>T (p.Phe44=) c.171C>T (p.Phe57=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45805973C>A | CA380202427 | SLC35C1 | c.133C>A (p.Leu45Ile) c.172C>A (p.Leu58Ile) | |
| 11 | g.45805973C>G | CA380202428 | SLC35C1 | c.133C>G (p.Leu45Val) c.172C>G (p.Leu58Val) | |
| 11 | g.45805973C>T | CA380202429 | SLC35C1 | c.133C>T (p.Leu45Phe) c.172C>T (p.Leu58Phe) | |
| 11 | g.45805974T>A | CA380202430 | SLC35C1 | c.134T>A (p.Leu45His) c.173T>A (p.Leu58His) | |
| 11 | g.45805974T>C | CA380202431 | SLC35C1 | c.134T>C (p.Leu45Pro) c.173T>C (p.Leu58Pro) | |
| 11 | g.45805974T>G | CA380202432 | SLC35C1 | c.134T>G (p.Leu45Arg) c.173T>G (p.Leu58Arg) | |
| 11 | g.45805975T>A | CA474036506 | SLC35C1 | c.135T>A (p.Leu45=) c.174T>A (p.Leu58=) | |
| 11 | g.45805975T>C | CA474036507 | SLC35C1 | c.135T>C (p.Leu45=) c.174T>C (p.Leu58=) | |
| 11 | g.45805975T>G | CA474036509 | SLC35C1 | c.135T>G (p.Leu45=) c.174T>G (p.Leu58=) | |
| 11 | g.45805978_45805980del | CA2695213700 | SLC35C1 | c.138_140del (p.Asn46del) c.177_179del (p.Asn59del) | |
| 11 | g.45805976A>C | CA380202433 | SLC35C1 | c.136A>C (p.Asn46His) c.175A>C (p.Asn59His) | |
| 11 | g.45805976A>G | CA380202434 | SLC35C1 | c.136A>G (p.Asn46Asp) c.175A>G (p.Asn59Asp) | |
| 11 | g.45805976A>T | CA380202435 | SLC35C1 | c.136A>T (p.Asn46Tyr) c.175A>T (p.Asn59Tyr) | |
| 11 | g.45805977A= | CA1968692773 | SLC35C1 | c.137A= (p.Asn46=) c.176A= (p.Asn59=) | |
| 11 | g.45805977A>C | CA380202436 | SLC35C1 | c.137A>C (p.Asn46Thr) c.176A>C (p.Asn59Thr) | |
| 11 | g.45805977A>G | CA221585062 | SLC35C1 | c.137A>G (p.Asn46Ser) c.176A>G (p.Asn59Ser) | dbSNP |
| 11 | g.45805977A>T | CA380202437 | SLC35C1 | c.137A>T (p.Asn46Ile) c.176A>T (p.Asn59Ile) | |
| 11 | g.45805978T>A | CA380202438 | SLC35C1 | c.138T>A (p.Asn46Lys) c.177T>A (p.Asn59Lys) | |
| 11 | g.45805978T>C | CA474036513 | SLC35C1 | c.138T>C (p.Asn46=) c.177T>C (p.Asn59=) | dbSNP gnomAD v4 |
| 11 | g.45805978T>G | CA380202439 | SLC35C1 | c.138T>G (p.Asn46Lys) c.177T>G (p.Asn59Lys) | |
| 11 | g.45805979A= | CA1968692775 | SLC35C1 | c.139A= (p.Lys47=) c.178A= (p.Lys60=) | |
| 11 | g.45805979A>C | CA380202440 | SLC35C1 | c.139A>C (p.Lys47Gln) c.178A>C (p.Lys60Gln) | |
| 11 | g.45805979A>G | CA5958197 | SLC35C1 | c.139A>G (p.Lys47Glu) c.178A>G (p.Lys60Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45805979A>T | CA380202441 | SLC35C1 | c.139A>T (p.Lys47Ter) c.178A>T (p.Lys60Ter) | |
| 11 | g.45805980A>C | CA380202442 | SLC35C1 | c.140A>C (p.Lys47Thr) c.179A>C (p.Lys60Thr) | |
| 11 | g.45805980A>G | CA380202443 | SLC35C1 | c.140A>G (p.Lys47Arg) c.179A>G (p.Lys60Arg) | |
| 11 | g.45805980A>T | CA380202444 | SLC35C1 | c.140A>T (p.Lys47Met) c.179A>T (p.Lys60Met) | |
| 11 | g.45805981G>A | CA474036517 | SLC35C1 | c.141G>A (p.Lys47=) c.180G>A (p.Lys60=) | dbSNP |
| 11 | g.45805981G>C | CA380202445 | SLC35C1 | c.141G>C (p.Lys47Asn) c.180G>C (p.Lys60Asn) | COSMIC |
| 11 | g.45805981G= | CA1968692778 | SLC35C1 | c.141G= (p.Lys47=) c.180G= (p.Lys60=) | |
| 11 | g.45805981G>T | CA380202446 | SLC35C1 | c.141G>T (p.Lys47Asn) c.180G>T (p.Lys60Asn) | |
| 11 | g.45805982T>A | CA380202447 | SLC35C1 | c.142T>A (p.Tyr48Asn) c.181T>A (p.Tyr61Asn) | |
| 11 | g.45805982T>C | CA380202448 | SLC35C1 | c.142T>C (p.Tyr48His) c.181T>C (p.Tyr61His) | gnomAD v4 |
| 11 | g.45805982T>G | CA380202449 | SLC35C1 | c.142T>G (p.Tyr48Asp) c.181T>G (p.Tyr61Asp) | |
| 11 | g.45805983A= | CA1968692782 | SLC35C1 | c.143A= (p.Tyr48=) c.182A= (p.Tyr61=) | |
| 11 | g.45805983A>C | CA380202450 | SLC35C1 | c.143A>C (p.Tyr48Ser) c.182A>C (p.Tyr61Ser) | dbSNP |
| 11 | g.45805983A>G | CA380202451 | SLC35C1 | c.143A>G (p.Tyr48Cys) c.182A>G (p.Tyr61Cys) | |
| 11 | g.45805983A>T | CA380202452 | SLC35C1 | c.143A>T (p.Tyr48Phe) c.182A>T (p.Tyr61Phe) | |
| 11 | g.45805984C>A | CA380202453 | SLC35C1 | c.144C>A (p.Tyr48Ter) c.183C>A (p.Tyr61Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45805984C= | CA1968692786 | SLC35C1 | c.144C= (p.Tyr48=) c.183C= (p.Tyr61=) | |
| 11 | g.45805984C>G | CA380202454 | SLC35C1 | c.144C>G (p.Tyr48Ter) c.183C>G (p.Tyr61Ter) | |
| 11 | g.45805984C>T | CA474036520 | SLC35C1 | c.144C>T (p.Tyr48=) c.183C>T (p.Tyr61=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45805985del | CA2613258203 | SLC35C1 | c.145del (p.Leu49CysfsTer22) c.184del (p.Leu62CysfsTer22) | gnomAD v4 |
| 11 | g.45805985C>A | CA380202455 | SLC35C1 | c.145C>A (p.Leu49Met) c.184C>A (p.Leu62Met) | |
| 11 | g.45805985C= | CA1968692789 | SLC35C1 | c.145C= (p.Leu49=) c.184C= (p.Leu62=) | |
| 11 | g.45805985C>G | CA380202456 | SLC35C1 | c.145C>G (p.Leu49Val) c.184C>G (p.Leu62Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45805985C>T | CA474036522 | SLC35C1 | c.145C>T (p.Leu49=) c.184C>T (p.Leu62=) | dbSNP |
| 11 | g.45805986T>A | CA380202457 | SLC35C1 | c.146T>A (p.Leu49Gln) c.185T>A (p.Leu62Gln) | |
| 11 | g.45805986T>C | CA380202458 | SLC35C1 | c.146T>C (p.Leu49Pro) c.185T>C (p.Leu62Pro) | |
| 11 | g.45805986T>G | CA380202459 | SLC35C1 | c.146T>G (p.Leu49Arg) c.185T>G (p.Leu62Arg) | |
| 11 | g.45805987G>A | CA5958198 | SLC35C1 | c.147G>A (p.Leu49=) c.186G>A (p.Leu62=) | dbSNP ExAC gnomAD v2 |
| 11 | g.45805987G>C | CA474036524 | SLC35C1 | c.147G>C (p.Leu49=) c.186G>C (p.Leu62=) | dbSNP gnomAD v2 |
| 11 | g.45805987G= | CA1968692793 | SLC35C1 | c.147G= (p.Leu49=) c.186G= (p.Leu62=) | |
| 11 | g.45805987G>T | CA474036523 | SLC35C1 | c.147G>T (p.Leu49=) c.186G>T (p.Leu62=) | |
| 11 | g.45805988C>A | CA380202460 | SLC35C1 | c.148C>A (p.Leu50Met) c.187C>A (p.Leu63Met) | |
| 11 | g.45805988C= | CA1968692797 | SLC35C1 | c.148C= (p.Leu50=) c.187C= (p.Leu63=) | |
| 11 | g.45805988C>G | CA380202461 | SLC35C1 | c.148C>G (p.Leu50Val) c.187C>G (p.Leu63Val) | |
| 11 | g.45805988C>T | CA474036528 | SLC35C1 | c.148C>T (p.Leu50=) c.187C>T (p.Leu63=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45805989T>A | CA380202462 | SLC35C1 | c.149T>A (p.Leu50Gln) c.188T>A (p.Leu63Gln) | |
| 11 | g.45805989T>C | CA380202463 | SLC35C1 | c.149T>C (p.Leu50Pro) c.188T>C (p.Leu63Pro) | |
| 11 | g.45805989T>G | CA380202464 | SLC35C1 | c.149T>G (p.Leu50Arg) c.188T>G (p.Leu63Arg) | |
| 11 | g.45805990G>A | CA474036529 | SLC35C1 | c.150G>A (p.Leu50=) c.189G>A (p.Leu63=) | |
| 11 | g.45805990G>C | CA474036531 | SLC35C1 | c.150G>C (p.Leu50=) c.189G>C (p.Leu63=) | |
| 11 | g.45805990G>T | CA474036530 | SLC35C1 | c.150G>T (p.Leu50=) c.189G>T (p.Leu63=) | |
| 11 | g.45805991G>A | CA380202466 | SLC35C1 | c.151G>A (p.Asp51Asn) c.190G>A (p.Asp64Asn) | |
| 11 | g.45805991G>C | CA5958199 | SLC35C1 | c.151G>C (p.Asp51His) c.190G>C (p.Asp64His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45805991G= | CA1968692801 | SLC35C1 | c.151G= (p.Asp51=) c.190G= (p.Asp64=) | |
| 11 | g.45805991G>T | CA380202465 | SLC35C1 | c.151G>T (p.Asp51Tyr) c.190G>T (p.Asp64Tyr) | |
| 11 | g.45805992A>C | CA380202467 | SLC35C1 | c.152A>C (p.Asp51Ala) c.191A>C (p.Asp64Ala) | |
| 11 | g.45805992A>G | CA380202469 | SLC35C1 | c.152A>G (p.Asp51Gly) c.191A>G (p.Asp64Gly) | |
| 11 | g.45805992A>T | CA380202468 | SLC35C1 | c.152A>T (p.Asp51Val) c.191A>T (p.Asp64Val) | |
| 11 | g.45805993C>A | CA380202470 | SLC35C1 | c.153C>A (p.Asp51Glu) c.192C>A (p.Asp64Glu) | |
| 11 | g.45805993C= | CA1968692810 | SLC35C1 | c.153C= (p.Asp51=) c.192C= (p.Asp64=) | |
| 11 | g.45805993C>G | CA380202471 | SLC35C1 | c.153C>G (p.Asp51Glu) c.192C>G (p.Asp64Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45805993C>T | CA474036533 | SLC35C1 | c.153C>T (p.Asp51=) c.192C>T (p.Asp64=) | dbSNP gnomAD v2 |
| 11 | g.45805994A= | CA1968692814 | SLC35C1 | c.154A= (p.Ser52=) c.193A= (p.Ser65=) | |
| 11 | g.45805994A>C | CA380202472 | SLC35C1 | c.154A>C (p.Ser52Arg) c.193A>C (p.Ser65Arg) | dbSNP |
| 11 | g.45805994A>G | CA380202473 | SLC35C1 | c.154A>G (p.Ser52Gly) c.193A>G (p.Ser65Gly) | |
| 11 | g.45805994A>T | CA380202474 | SLC35C1 | c.154A>T (p.Ser52Cys) c.193A>T (p.Ser65Cys) | gnomAD v4 |
| 11 | g.45805995G>A | CA380202475 | SLC35C1 | c.155G>A (p.Ser52Asn) c.194G>A (p.Ser65Asn) | COSMIC |
| 11 | g.45805995G>C | CA380202476 | SLC35C1 | c.155G>C (p.Ser52Thr) c.194G>C (p.Ser65Thr) | gnomAD v4 |
| 11 | g.45805995G>T | CA380202477 | SLC35C1 | c.155G>T (p.Ser52Ile) c.194G>T (p.Ser65Ile) | |
| 11 | g.45805995_45806016delinsGCCCCTCCCTGCGGCTGGACAC | CA1968692820 | SLC35C1 | c.155_176delinsGCCCCTCCCTGCGGCTGGACAC (p.Ser52=) c.194_215delinsGCCCCTCCCTGCGGCTGGACAC (p.Ser65=) | |
| 11 | g.45805996C>A | CA380202478 | SLC35C1 | c.156C>A (p.Ser52Arg) c.195C>A (p.Ser65Arg) | |
| 11 | g.45805996C>G | CA380202479 | SLC35C1 | c.156C>G (p.Ser52Arg) c.195C>G (p.Ser65Arg) | |
| 11 | g.45805996C>T | CA474036534 | SLC35C1 | c.156C>T (p.Ser52=) c.195C>T (p.Ser65=) | |
| 11 | g.45806000_45806020del | CA221585079 | SLC35C1 | c.160_180del (p.Ser54_Pro60del) c.199_219del (p.Ser67_Pro73del) | dbSNP gnomAD v4 |
| 11 | g.45805997C>A | CA380202480 | SLC35C1 | c.157C>A (p.Pro53Thr) c.196C>A (p.Pro66Thr) | |
| 11 | g.45805997C>G | CA380202481 | SLC35C1 | c.157C>G (p.Pro53Ala) c.196C>G (p.Pro66Ala) | |
| 11 | g.45805997C>T | CA380202482 | SLC35C1 | c.157C>T (p.Pro53Ser) c.196C>T (p.Pro66Ser) | gnomAD v4 |
| 11 | g.45805998C>A | CA380202485 | SLC35C1 | c.158C>A (p.Pro53His) c.197C>A (p.Pro66His) | |
| 11 | g.45805998C= | CA1968692823 | SLC35C1 | c.158C= (p.Pro53=) c.197C= (p.Pro66=) | |
| 11 | g.45805998C>G | CA380202483 | SLC35C1 | c.158C>G (p.Pro53Arg) c.197C>G (p.Pro66Arg) | |
| 11 | g.45805998C>T | CA380202484 | SLC35C1 | c.158C>T (p.Pro53Leu) c.197C>T (p.Pro66Leu) | dbSNP gnomAD v4 |
| 11 | g.45805999C>A | CA474036536 | SLC35C1 | c.159C>A (p.Pro53=) c.198C>A (p.Pro66=) | |
| 11 | g.45805999C= | CA1968692828 | SLC35C1 | c.159C= (p.Pro53=) c.198C= (p.Pro66=) | |
| 11 | g.45805999C>G | CA474036537 | SLC35C1 | c.159C>G (p.Pro53=) c.198C>G (p.Pro66=) | dbSNP |
| 11 | g.45805999C>T | CA474036538 | SLC35C1 | c.159C>T (p.Pro53=) c.198C>T (p.Pro66=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806000T>A | CA380202486 | SLC35C1 | c.160T>A (p.Ser54Thr) c.199T>A (p.Ser67Thr) | |
| 11 | g.45806000T>C | CA380202487 | SLC35C1 | c.160T>C (p.Ser54Pro) c.199T>C (p.Ser67Pro) | |
| 11 | g.45806000T>G | CA380202488 | SLC35C1 | c.160T>G (p.Ser54Ala) c.199T>G (p.Ser67Ala) | gnomAD v4 |
| 11 | g.45806001C>A | CA380202489 | SLC35C1 | c.161C>A (p.Ser54Tyr) c.200C>A (p.Ser67Tyr) | |
| 11 | g.45806001C= | CA1968692833 | SLC35C1 | c.161C= (p.Ser54=) c.200C= (p.Ser67=) | |
| 11 | g.45806001C>G | CA221585081 | SLC35C1 | c.161C>G (p.Ser54Cys) c.200C>G (p.Ser67Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806001C>T | CA221585083 | SLC35C1 | c.161C>T (p.Ser54Phe) c.200C>T (p.Ser67Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45806003dup | CA2613258204 | SLC35C1 | c.163dup (p.Leu55ProfsTer?) c.202dup (p.Leu68ProfsTer?) | gnomAD v4 |
| 11 | g.45806002C>A | CA474036542 | SLC35C1 | c.162C>A (p.Ser54=) c.201C>A (p.Ser67=) | |
| 11 | g.45806002C>G | CA474036543 | SLC35C1 | c.162C>G (p.Ser54=) c.201C>G (p.Ser67=) | |
| 11 | g.45806002C>T | CA474036544 | SLC35C1 | c.162C>T (p.Ser54=) c.201C>T (p.Ser67=) | |
| 11 | g.45806003C>A | CA380202490 | SLC35C1 | c.163C>A (p.Leu55Met) c.202C>A (p.Leu68Met) | |
| 11 | g.45806003C= | CA1968692842 | SLC35C1 | c.163C= (p.Leu55=) c.202C= (p.Leu68=) | |
| 11 | g.45806003C>G | CA221585087 | SLC35C1 | c.163C>G (p.Leu55Val) c.202C>G (p.Leu68Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806003C>T | CA474036545 | SLC35C1 | c.163C>T (p.Leu55=) c.202C>T (p.Leu68=) | gnomAD v4 |
| 11 | g.45806004T>A | CA380202491 | SLC35C1 | c.164T>A (p.Leu55Gln) c.203T>A (p.Leu68Gln) | |
| 11 | g.45806004T>C | CA380202492 | SLC35C1 | c.164T>C (p.Leu55Pro) c.203T>C (p.Leu68Pro) | |
| 11 | g.45806004T>G | CA380202493 | SLC35C1 | c.164T>G (p.Leu55Arg) c.203T>G (p.Leu68Arg) | |
| 11 | g.45806005G>A | CA474036547 | SLC35C1 | c.165G>A (p.Leu55=) c.204G>A (p.Leu68=) | ClinVar dbSNP |
| 11 | g.45806005G>C | CA474036549 | SLC35C1 | c.165G>C (p.Leu55=) c.204G>C (p.Leu68=) | |
| 11 | g.45806005G= | CA1968692848 | SLC35C1 | c.165G= (p.Leu55=) c.204G= (p.Leu68=) | |
| 11 | g.45806005G>T | CA474036551 | SLC35C1 | c.165G>T (p.Leu55=) c.204G>T (p.Leu68=) | |
| 11 | g.45806006del | CA2613258205 | SLC35C1 | c.166del (p.Arg56GlyfsTer15) c.205del (p.Arg69GlyfsTer15) | gnomAD v4 |
| 11 | g.45806006C>A | CA474036552 | SLC35C1 | c.166C>A (p.Arg56=) c.205C>A (p.Arg69=) | |
| 11 | g.45806006C= | CA1968692852 | SLC35C1 | c.166C= (p.Arg56=) c.205C= (p.Arg69=) | |
| 11 | g.45806006C>G | CA380202494 | SLC35C1 | c.166C>G (p.Arg56Gly) c.205C>G (p.Arg69Gly) | |
| 11 | g.45806006C>T | CA221585091 | SLC35C1 | c.166C>T (p.Arg56Trp) c.205C>T (p.Arg69Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806007G>A | CA5958200 | SLC35C1 | c.167G>A (p.Arg56Gln) c.206G>A (p.Arg69Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.45806007G>C | CA380202495 | SLC35C1 | c.167G>C (p.Arg56Pro) c.206G>C (p.Arg69Pro) | |
| 11 | g.45806007G= | CA1968692858 | SLC35C1 | c.167G= (p.Arg56=) c.206G= (p.Arg69=) | |
| 11 | g.45806007G>T | CA380202496 | SLC35C1 | c.167G>T (p.Arg56Leu) c.206G>T (p.Arg69Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806008G>A | CA5958201 | SLC35C1 | c.168G>A (p.Arg56=) c.207G>A (p.Arg69=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806008G>C | CA474036553 | SLC35C1 | c.168G>C (p.Arg56=) c.207G>C (p.Arg69=) | |
| 11 | g.45806008G= | CA1968692863 | SLC35C1 | c.168G= (p.Arg56=) c.207G= (p.Arg69=) | |
| 11 | g.45806008G>T | CA474036554 | SLC35C1 | c.168G>T (p.Arg56=) c.207G>T (p.Arg69=) | gnomAD v4 |
| 11 | g.45806009C>A | CA380202497 | SLC35C1 | c.169C>A (p.Leu57Met) c.208C>A (p.Leu70Met) | |
| 11 | g.45806009C= | CA1968692867 | SLC35C1 | c.169C= (p.Leu57=) c.208C= (p.Leu70=) | |
| 11 | g.45806009C>G | CA5958202 | SLC35C1 | c.169C>G (p.Leu57Val) c.208C>G (p.Leu70Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806009C>T | CA474036557 | SLC35C1 | c.169C>T (p.Leu57=) c.208C>T (p.Leu70=) | |
| 11 | g.45806010T>A | CA380202498 | SLC35C1 | c.170T>A (p.Leu57Gln) c.209T>A (p.Leu70Gln) | |
| 11 | g.45806010T>C | CA380202499 | SLC35C1 | c.170T>C (p.Leu57Pro) c.209T>C (p.Leu70Pro) | |
| 11 | g.45806010T>G | CA380202500 | SLC35C1 | c.170T>G (p.Leu57Arg) c.209T>G (p.Leu70Arg) | ClinVar gnomAD v4 |
| 11 | g.45806011G>A | CA221585108 | SLC35C1 | c.171G>A (p.Leu57=) c.210G>A (p.Leu70=) | dbSNP |
| 11 | g.45806011G>C | CA474036559 | SLC35C1 | c.171G>C (p.Leu57=) c.210G>C (p.Leu70=) | |
| 11 | g.45806011G= | CA1968692873 | SLC35C1 | c.171G= (p.Leu57=) c.210G= (p.Leu70=) | |
| 11 | g.45806011G>T | CA474036560 | SLC35C1 | c.171G>T (p.Leu57=) c.210G>T (p.Leu70=) | |
| 11 | g.45806012G>A | CA380202501 | SLC35C1 | c.172G>A (p.Asp58Asn) c.211G>A (p.Asp71Asn) | gnomAD v4 |
| 11 | g.45806012G>C | CA380202502 | SLC35C1 | c.172G>C (p.Asp58His) c.211G>C (p.Asp71His) | |
| 11 | g.45806012G>T | CA380202503 | SLC35C1 | c.172G>T (p.Asp58Tyr) c.211G>T (p.Asp71Tyr) | |
| 11 | g.45806013A>C | CA380202506 | SLC35C1 | c.173A>C (p.Asp58Ala) c.212A>C (p.Asp71Ala) | |
| 11 | g.45806013A>G | CA380202504 | SLC35C1 | c.173A>G (p.Asp58Gly) c.212A>G (p.Asp71Gly) | |
| 11 | g.45806013A>T | CA380202505 | SLC35C1 | c.173A>T (p.Asp58Val) c.212A>T (p.Asp71Val) | |
| 11 | g.45806014C>A | CA380202507 | SLC35C1 | c.174C>A (p.Asp58Glu) c.213C>A (p.Asp71Glu) | |
| 11 | g.45806014C>G | CA380202508 | SLC35C1 | c.174C>G (p.Asp58Glu) c.213C>G (p.Asp71Glu) | gnomAD v4 |
| 11 | g.45806014C>T | CA474036564 | SLC35C1 | c.174C>T (p.Asp58=) c.213C>T (p.Asp71=) | |
| 11 | g.45806015A= | CA1968692877 | SLC35C1 | c.175A= (p.Thr59=) c.214A= (p.Thr72=) | |
| 11 | g.45806015A>C | CA380202509 | SLC35C1 | c.175A>C (p.Thr59Pro) c.214A>C (p.Thr72Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806015A>G | CA380202510 | SLC35C1 | c.175A>G (p.Thr59Ala) c.214A>G (p.Thr72Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806015A>T | CA380202511 | SLC35C1 | c.175A>T (p.Thr59Ser) c.214A>T (p.Thr72Ser) | |
| 11 | g.45806016C>A | CA380202512 | SLC35C1 | c.176C>A (p.Thr59Asn) c.215C>A (p.Thr72Asn) | |
| 11 | g.45806016C= | CA1968692880 | SLC35C1 | c.176C= (p.Thr59=) c.215C= (p.Thr72=) | |
| 11 | g.45806016C>G | CA380202513 | SLC35C1 | c.176C>G (p.Thr59Ser) c.215C>G (p.Thr72Ser) | dbSNP |
| 11 | g.45806016C>T | CA380202514 | SLC35C1 | c.176C>T (p.Thr59Ile) c.215C>T (p.Thr72Ile) | |
| 11 | g.45806017C>A | CA474036566 | SLC35C1 | c.177C>A (p.Thr59=) c.216C>A (p.Thr72=) | |
| 11 | g.45806017C= | CA1968692886 | SLC35C1 | c.177C= (p.Thr59=) c.216C= (p.Thr72=) | |
| 11 | g.45806017C>G | CA474036565 | SLC35C1 | c.177C>G (p.Thr59=) c.216C>G (p.Thr72=) | dbSNP |
| 11 | g.45806017C>T | CA5958203 | SLC35C1 | c.177C>T (p.Thr59=) c.216C>T (p.Thr72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806018C>A | CA380202515 | SLC35C1 | c.178C>A (p.Pro60Thr) c.217C>A (p.Pro73Thr) | |
| 11 | g.45806018C>G | CA380202516 | SLC35C1 | c.178C>G (p.Pro60Ala) c.217C>G (p.Pro73Ala) | |
| 11 | g.45806018C>T | CA380202517 | SLC35C1 | c.178C>T (p.Pro60Ser) c.217C>T (p.Pro73Ser) | dbSNP gnomAD v4 |
| 11 | g.45806019C>A | CA380202519 | SLC35C1 | c.179C>A (p.Pro60His) c.218C>A (p.Pro73His) | |
| 11 | g.45806019C>G | CA380202520 | SLC35C1 | c.179C>G (p.Pro60Arg) c.218C>G (p.Pro73Arg) | gnomAD v4 |
| 11 | g.45806019C>T | CA380202518 | SLC35C1 | c.179C>T (p.Pro60Leu) c.218C>T (p.Pro73Leu) | |
| 11 | g.45806020C>A | CA474036569 | SLC35C1 | c.180C>A (p.Pro60=) c.219C>A (p.Pro73=) | |
| 11 | g.45806020C>G | CA474036568 | SLC35C1 | c.180C>G (p.Pro60=) c.219C>G (p.Pro73=) | |
| 11 | g.45806020C>T | CA474036567 | SLC35C1 | c.180C>T (p.Pro60=) c.219C>T (p.Pro73=) | |
| 11 | g.45806021A= | CA1968692894 | SLC35C1 | c.181A= (p.Ile61=) c.220A= (p.Ile74=) | |
| 11 | g.45806021A>C | CA380202523 | SLC35C1 | c.181A>C (p.Ile61Leu) c.220A>C (p.Ile74Leu) | |
| 11 | g.45806021A>G | CA380202521 | SLC35C1 | c.181A>G (p.Ile61Val) c.220A>G (p.Ile74Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806021A>T | CA380202522 | SLC35C1 | c.181A>T (p.Ile61Phe) c.220A>T (p.Ile74Phe) | |
| 11 | g.45806022T>A | CA380202524 | SLC35C1 | c.182T>A (p.Ile61Asn) c.221T>A (p.Ile74Asn) | |
| 11 | g.45806022T>C | CA380202525 | SLC35C1 | c.182T>C (p.Ile61Thr) c.221T>C (p.Ile74Thr) | |
| 11 | g.45806022T>G | CA380202526 | SLC35C1 | c.182T>G (p.Ile61Ser) c.221T>G (p.Ile74Ser) | |
| 11 | g.45806022_45806031delinsTCTTCGTCAC | CA1968692899 | SLC35C1 | c.182_191delinsTCTTCGTCAC (p.Ile61=) c.221_230delinsTCTTCGTCAC (p.Ile74=) | |
| 11 | g.45806023C>A | CA474036571 | SLC35C1 | c.183C>A (p.Ile61=) c.222C>A (p.Ile74=) | ClinVar |
| 11 | g.45806023C>G | CA380202527 | SLC35C1 | c.183C>G (p.Ile61Met) c.222C>G (p.Ile74Met) | |
| 11 | g.45806023C>T | CA474036570 | SLC35C1 | c.183C>T (p.Ile61=) c.222C>T (p.Ile74=) | |
| 11 | g.45806027_45806035del | CA5958204 | SLC35C1 | c.187_195del (p.Val63_Phe65del) c.226_234del (p.Val76_Phe78del) | dbSNP ExAC |
| 11 | g.45806024T>A | CA5958205 | SLC35C1 | c.184T>A (p.Phe62Ile) c.223T>A (p.Phe75Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806024T>C | CA380202528 | SLC35C1 | c.184T>C (p.Phe62Leu) c.223T>C (p.Phe75Leu) | gnomAD v4 |
| 11 | g.45806024T>G | CA380202529 | SLC35C1 | c.184T>G (p.Phe62Val) c.223T>G (p.Phe75Val) | dbSNP |
| 11 | g.45806024T= | CA1968692908 | SLC35C1 | c.184T= (p.Phe62=) c.223T= (p.Phe75=) | |
| 11 | g.45806025T>A | CA380202530 | SLC35C1 | c.185T>A (p.Phe62Tyr) c.224T>A (p.Phe75Tyr) | |
| 11 | g.45806025T>C | CA380202531 | SLC35C1 | c.185T>C (p.Phe62Ser) c.224T>C (p.Phe75Ser) | |
| 11 | g.45806025T>G | CA380202532 | SLC35C1 | c.185T>G (p.Phe62Cys) c.224T>G (p.Phe75Cys) | |
| 11 | g.45806026C>A | CA380202533 | SLC35C1 | c.186C>A (p.Phe62Leu) c.225C>A (p.Phe75Leu) | |
| 11 | g.45806026C= | CA1968692914 | SLC35C1 | c.186C= (p.Phe62=) c.225C= (p.Phe75=) | |
| 11 | g.45806026C>G | CA380202534 | SLC35C1 | c.186C>G (p.Phe62Leu) c.225C>G (p.Phe75Leu) | |
| 11 | g.45806026C>T | CA474036575 | SLC35C1 | c.186C>T (p.Phe62=) c.225C>T (p.Phe75=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806027G>A | CA5958206 | SLC35C1 | c.187G>A (p.Val63Ile) c.226G>A (p.Val76Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806027G>C | CA380202535 | SLC35C1 | c.187G>C (p.Val63Leu) c.226G>C (p.Val76Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45806027G= | CA1968692919 | SLC35C1 | c.187G= (p.Val63=) c.226G= (p.Val76=) | |
| 11 | g.45806027G>T | CA380202536 | SLC35C1 | c.187G>T (p.Val63Phe) c.226G>T (p.Val76Phe) | |
| 11 | g.45806028T>A | CA380202537 | SLC35C1 | c.188T>A (p.Val63Asp) c.227T>A (p.Val76Asp) | |
| 11 | g.45806028T>C | CA380202538 | SLC35C1 | c.188T>C (p.Val63Ala) c.227T>C (p.Val76Ala) | |
| 11 | g.45806028T>G | CA380202539 | SLC35C1 | c.188T>G (p.Val63Gly) c.227T>G (p.Val76Gly) | |
| 11 | g.45806029C>A | CA474036576 | SLC35C1 | c.189C>A (p.Val63=) c.228C>A (p.Val76=) | |
| 11 | g.45806029C>G | CA474036577 | SLC35C1 | c.189C>G (p.Val63=) c.228C>G (p.Val76=) | |
| 11 | g.45806029C>T | CA474036578 | SLC35C1 | c.189C>T (p.Val63=) c.228C>T (p.Val76=) | |
| 11 | g.45806030A= | CA1968692924 | SLC35C1 | c.190A= (p.Thr64=) c.229A= (p.Thr77=) | |
| 11 | g.45806030A>C | CA380202540 | SLC35C1 | c.190A>C (p.Thr64Pro) c.229A>C (p.Thr77Pro) | dbSNP |
| 11 | g.45806030A>G | CA380202541 | SLC35C1 | c.190A>G (p.Thr64Ala) c.229A>G (p.Thr77Ala) | |
| 11 | g.45806030A>T | CA380202542 | SLC35C1 | c.190A>T (p.Thr64Ser) c.229A>T (p.Thr77Ser) | |
| 11 | g.45806031C>A | CA380202543 | SLC35C1 | c.191C>A (p.Thr64Asn) c.230C>A (p.Thr77Asn) | gnomAD v4 |
| 11 | g.45806031C= | CA1968692929 | SLC35C1 | c.191C= (p.Thr64=) c.230C= (p.Thr77=) | |
| 11 | g.45806031C>G | CA380202544 | SLC35C1 | c.191C>G (p.Thr64Ser) c.230C>G (p.Thr77Ser) | |
| 11 | g.45806031C>T | CA380202545 | SLC35C1 | c.191C>T (p.Thr64Ile) c.230C>T (p.Thr77Ile) | dbSNP gnomAD v4 |
| 11 | g.45806031_45806034delinsCCTT | CA1968692930 | SLC35C1 | c.191_194delinsCCTT (p.Thr64=) c.230_233delinsCCTT (p.Thr77=) | |
| 11 | g.45806032C>A | CA474036581 | SLC35C1 | c.192C>A (p.Thr64=) c.231C>A (p.Thr77=) | |
| 11 | g.45806032C= | CA1968692934 | SLC35C1 | c.192C= (p.Thr64=) c.231C= (p.Thr77=) | |
| 11 | g.45806032C>G | CA474036582 | SLC35C1 | c.192C>G (p.Thr64=) c.231C>G (p.Thr77=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806032C>T | CA474036583 | SLC35C1 | c.192C>T (p.Thr64=) c.231C>T (p.Thr77=) | |
| 11 | g.45806034_45806036del | CA1968692933 | SLC35C1 | c.194_196del (p.Phe65del) c.233_235del (p.Phe78del) | dbSNP gnomAD v4 |
| 11 | g.45806033T>A | CA380202548 | SLC35C1 | c.193T>A (p.Phe65Ile) c.232T>A (p.Phe78Ile) | |
| 11 | g.45806033T>C | CA380202549 | SLC35C1 | c.193T>C (p.Phe65Leu) c.232T>C (p.Phe78Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806033T>G | CA380202547 | SLC35C1 | c.193T>G (p.Phe65Val) c.232T>G (p.Phe78Val) | COSMIC |
| 11 | g.45806033T= | CA1968692940 | SLC35C1 | c.193T= (p.Phe65=) c.232T= (p.Phe78=) | |
| 11 | g.45806034T>A | CA380202550 | SLC35C1 | c.194T>A (p.Phe65Tyr) c.233T>A (p.Phe78Tyr) | |
| 11 | g.45806034T>C | CA380202551 | SLC35C1 | c.194T>C (p.Phe65Ser) c.233T>C (p.Phe78Ser) | |
| 11 | g.45806034T>G | CA5958207 | SLC35C1 | c.194T>G (p.Phe65Cys) c.233T>G (p.Phe78Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806034T= | CA1968692942 | SLC35C1 | c.194T= (p.Phe65=) c.233T= (p.Phe78=) | |
| 11 | g.45806035C>A | CA380202552 | SLC35C1 | c.195C>A (p.Phe65Leu) c.234C>A (p.Phe78Leu) | |
| 11 | g.45806035C= | CA1968692945 | SLC35C1 | c.195C= (p.Phe65=) c.234C= (p.Phe78=) | |
| 11 | g.45806035C>G | CA380202553 | SLC35C1 | c.195C>G (p.Phe65Leu) c.234C>G (p.Phe78Leu) | |
| 11 | g.45806035C>T | CA474036585 | SLC35C1 | c.195C>T (p.Phe65=) c.234C>T (p.Phe78=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806036T>A | CA380202556 | SLC35C1 | c.196T>A (p.Tyr66Asn) c.235T>A (p.Tyr79Asn) | |
| 11 | g.45806036T>C | CA380202555 | SLC35C1 | c.196T>C (p.Tyr66His) c.235T>C (p.Tyr79His) | gnomAD v4 |
| 11 | g.45806036T>G | CA380202554 | SLC35C1 | c.196T>G (p.Tyr66Asp) c.235T>G (p.Tyr79Asp) | |
| 11 | g.45806037A>C | CA380202557 | SLC35C1 | c.197A>C (p.Tyr66Ser) c.236A>C (p.Tyr79Ser) | |
| 11 | g.45806037A>G | CA380202558 | SLC35C1 | c.197A>G (p.Tyr66Cys) c.236A>G (p.Tyr79Cys) | |
| 11 | g.45806037A>T | CA380202559 | SLC35C1 | c.197A>T (p.Tyr66Phe) c.236A>T (p.Tyr79Phe) | |
| 11 | g.45806038C>A | CA380202560 | SLC35C1 | c.198C>A (p.Tyr66Ter) c.237C>A (p.Tyr79Ter) | |
| 11 | g.45806038C= | CA1968692948 | SLC35C1 | c.198C= (p.Tyr66=) c.237C= (p.Tyr79=) | |
| 11 | g.45806038C>G | CA380202561 | SLC35C1 | c.198C>G (p.Tyr66Ter) c.237C>G (p.Tyr79Ter) | |
| 11 | g.45806038C>T | CA5958208 | SLC35C1 | c.198C>T (p.Tyr66=) c.237C>T (p.Tyr79=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806039C>A | CA380202562 | SLC35C1 | c.199C>A (p.Gln67Lys) c.238C>A (p.Gln80Lys) | |
| 11 | g.45806039C>G | CA380202564 | SLC35C1 | c.199C>G (p.Gln67Glu) c.238C>G (p.Gln80Glu) | |
| 11 | g.45806039C>T | CA380202563 | SLC35C1 | c.199C>T (p.Gln67Ter) c.238C>T (p.Gln80Ter) | |
| 11 | g.45806040A>C | CA380202565 | SLC35C1 | c.200A>C (p.Gln67Pro) c.239A>C (p.Gln80Pro) | |
| 11 | g.45806040A>G | CA380202566 | SLC35C1 | c.200A>G (p.Gln67Arg) c.239A>G (p.Gln80Arg) | gnomAD v4 |
| 11 | g.45806040A>T | CA380202567 | SLC35C1 | c.200A>T (p.Gln67Leu) c.239A>T (p.Gln80Leu) | |
| 11 | g.45806041G>A | CA474036588 | SLC35C1 | c.201G>A (p.Gln67=) c.240G>A (p.Gln80=) | |
| 11 | g.45806041G>C | CA380202568 | SLC35C1 | c.201G>C (p.Gln67His) c.240G>C (p.Gln80His) | |
| 11 | g.45806041G>T | CA380202569 | SLC35C1 | c.201G>T (p.Gln67His) c.240G>T (p.Gln80His) | |
| 11 | g.45806042T>A | CA380202570 | SLC35C1 | c.202T>A (p.Cys68Ser) c.241T>A (p.Cys81Ser) | |
| 11 | g.45806042T>C | CA380202571 | SLC35C1 | c.202T>C (p.Cys68Arg) c.241T>C (p.Cys81Arg) | |
| 11 | g.45806042T>G | CA380202572 | SLC35C1 | c.202T>G (p.Cys68Gly) c.241T>G (p.Cys81Gly) | |
| 11 | g.45806043G>A | CA380202573 | SLC35C1 | c.203G>A (p.Cys68Tyr) c.242G>A (p.Cys81Tyr) | |
| 11 | g.45806043G>C | CA380202574 | SLC35C1 | c.203G>C (p.Cys68Ser) c.242G>C (p.Cys81Ser) | |
| 11 | g.45806043G>T | CA380202575 | SLC35C1 | c.203G>T (p.Cys68Phe) c.242G>T (p.Cys81Phe) | |
| 11 | g.45806044C>A | CA380202576 | SLC35C1 | c.204C>A (p.Cys68Ter) c.243C>A (p.Cys81Ter) | |
| 11 | g.45806044C>G | CA380202577 | SLC35C1 | c.204C>G (p.Cys68Trp) c.243C>G (p.Cys81Trp) | |
| 11 | g.45806044C>T | CA474036592 | SLC35C1 | c.204C>T (p.Cys68=) c.243C>T (p.Cys81=) | gnomAD v4 |
| 11 | g.45806045C>A | CA380202579 | SLC35C1 | c.205C>A (p.Leu69Met) c.244C>A (p.Leu82Met) | |
| 11 | g.45806045C>G | CA380202578 | SLC35C1 | c.205C>G (p.Leu69Val) c.244C>G (p.Leu82Val) | |
| 11 | g.45806045C>T | CA474036593 | SLC35C1 | c.205C>T (p.Leu69=) c.244C>T (p.Leu82=) | |
| 11 | g.45806046T>A | CA380202580 | SLC35C1 | c.206T>A (p.Leu69Gln) c.245T>A (p.Leu82Gln) | |
| 11 | g.45806046T>C | CA380202581 | SLC35C1 | c.206T>C (p.Leu69Pro) c.245T>C (p.Leu82Pro) | |
| 11 | g.45806046T>G | CA5958209 | SLC35C1 | c.206T>G (p.Leu69Arg) c.245T>G (p.Leu82Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806046T= | CA1968692951 | SLC35C1 | c.206T= (p.Leu69=) c.245T= (p.Leu82=) | |
| 11 | g.45806048_45806050del | CA2613258206 | SLC35C1 | c.208_210del (p.Val70del) c.247_249del (p.Val83del) | gnomAD v4 |
| 11 | g.45806047G>A | CA474036594 | SLC35C1 | c.207G>A (p.Leu69=) c.246G>A (p.Leu82=) | gnomAD v4 |
| 11 | g.45806047G>C | CA474036595 | SLC35C1 | c.207G>C (p.Leu69=) c.246G>C (p.Leu82=) | |
| 11 | g.45806047G>T | CA474036596 | SLC35C1 | c.207G>T (p.Leu69=) c.246G>T (p.Leu82=) | |
| 11 | g.45806048G>A | CA380202582 | SLC35C1 | c.208G>A (p.Val70Met) c.247G>A (p.Val83Met) | |
| 11 | g.45806048G>C | CA380202583 | SLC35C1 | c.208G>C (p.Val70Leu) c.247G>C (p.Val83Leu) | |
| 11 | g.45806048G>T | CA380202584 | SLC35C1 | c.208G>T (p.Val70Leu) c.247G>T (p.Val83Leu) | |
| 11 | g.45806049T>A | CA380202587 | SLC35C1 | c.209T>A (p.Val70Glu) c.248T>A (p.Val83Glu) | |
| 11 | g.45806049T>C | CA380202586 | SLC35C1 | c.209T>C (p.Val70Ala) c.248T>C (p.Val83Ala) | |
| 11 | g.45806049T>G | CA380202585 | SLC35C1 | c.209T>G (p.Val70Gly) c.248T>G (p.Val83Gly) | |
| 11 | g.45806050G>A | CA474036597 | SLC35C1 | c.210G>A (p.Val70=) c.249G>A (p.Val83=) | |
| 11 | g.45806050G>C | CA474036598 | SLC35C1 | c.210G>C (p.Val70=) c.249G>C (p.Val83=) | |
| 11 | g.45806050G>T | CA474036599 | SLC35C1 | c.210G>T (p.Val70=) c.249G>T (p.Val83=) | |
| 11 | g.45806051A= | CA1968692954 | SLC35C1 | c.211A= (p.Thr71=) c.250A= (p.Thr84=) | |
| 11 | g.45806051A>C | CA380202588 | SLC35C1 | c.211A>C (p.Thr71Pro) c.250A>C (p.Thr84Pro) | |
| 11 | g.45806051A>G | CA380202589 | SLC35C1 | c.211A>G (p.Thr71Ala) c.250A>G (p.Thr84Ala) | COSMIC |
| 11 | g.45806051A>T | CA380202590 | SLC35C1 | c.211A>T (p.Thr71Ser) c.250A>T (p.Thr84Ser) | dbSNP gnomAD v2 |