| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.45805995_45806016delinsGCCCCTCCCTGCGGCTGGACAC | CA1968692820 | SLC35C1 | c.155_176delinsGCCCCTCCCTGCGGCTGGACAC (p.Ser52=) c.194_215delinsGCCCCTCCCTGCGGCTGGACAC (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.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 |
| 11 | g.45806052C>A | CA380202591 | SLC35C1 | c.212C>A (p.Thr71Asn) c.251C>A (p.Thr84Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806052C= | CA1968692957 | SLC35C1 | c.212C= (p.Thr71=) c.251C= (p.Thr84=) | |
| 11 | g.45806052C>G | CA380202592 | SLC35C1 | c.212C>G (p.Thr71Ser) c.251C>G (p.Thr84Ser) | |
| 11 | g.45806052C>T | CA380202593 | SLC35C1 | c.212C>T (p.Thr71Ile) c.251C>T (p.Thr84Ile) | |
| 11 | g.45806053C>A | CA474036602 | SLC35C1 | c.213C>A (p.Thr71=) c.252C>A (p.Thr84=) | |
| 11 | g.45806053C>G | CA474036603 | SLC35C1 | c.213C>G (p.Thr71=) c.252C>G (p.Thr84=) | |
| 11 | g.45806053C>T | CA474036604 | SLC35C1 | c.213C>T (p.Thr71=) c.252C>T (p.Thr84=) | |
| 11 | g.45806054A>C | CA380202596 | SLC35C1 | c.214A>C (p.Thr72Pro) c.253A>C (p.Thr85Pro) | gnomAD v4 |
| 11 | g.45806054A>G | CA380202594 | SLC35C1 | c.214A>G (p.Thr72Ala) c.253A>G (p.Thr85Ala) | |
| 11 | g.45806054A>T | CA380202595 | SLC35C1 | c.214A>T (p.Thr72Ser) c.253A>T (p.Thr85Ser) | |
| 11 | g.45806055C>A | CA380202597 | SLC35C1 | c.215C>A (p.Thr72Lys) c.254C>A (p.Thr85Lys) | |
| 11 | g.45806055C= | CA1968692962 | SLC35C1 | c.215C= (p.Thr72=) c.254C= (p.Thr85=) | |
| 11 | g.45806055C>G | CA380202598 | SLC35C1 | c.215C>G (p.Thr72Arg) c.254C>G (p.Thr85Arg) | |
| 11 | g.45806055C>T | CA5958210 | SLC35C1 | c.215C>T (p.Thr72Met) c.254C>T (p.Thr85Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806056G>A | CA5958211 | SLC35C1 | c.216G>A (p.Thr72=) c.255G>A (p.Thr85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806056G>C | CA474036606 | SLC35C1 | c.216G>C (p.Thr72=) c.255G>C (p.Thr85=) | gnomAD v4 |
| 11 | g.45806056G= | CA1968692968 | SLC35C1 | c.216G= (p.Thr72=) c.255G= (p.Thr85=) | |
| 11 | g.45806056G>T | CA474036607 | SLC35C1 | c.216G>T (p.Thr72=) c.255G>T (p.Thr85=) | ClinVar dbSNP gnomAD v2 |
| 11 | g.45806057C>A | CA380202599 | SLC35C1 | c.217C>A (p.Leu73Met) c.256C>A (p.Leu86Met) | |
| 11 | g.45806057C>G | CA380202600 | SLC35C1 | c.217C>G (p.Leu73Val) c.256C>G (p.Leu86Val) | |
| 11 | g.45806057C>T | CA474036609 | SLC35C1 | c.217C>T (p.Leu73=) c.256C>T (p.Leu86=) | |
| 11 | g.45806058T>A | CA380202603 | SLC35C1 | c.218T>A (p.Leu73Gln) c.257T>A (p.Leu86Gln) | |
| 11 | g.45806058T>C | CA380202601 | SLC35C1 | c.218T>C (p.Leu73Pro) c.257T>C (p.Leu86Pro) | |
| 11 | g.45806058T>G | CA380202602 | SLC35C1 | c.218T>G (p.Leu73Arg) c.257T>G (p.Leu86Arg) | |
| 11 | g.45806059G>A | CA474036472 | SLC35C1 | c.219G>A (p.Leu73=) c.258G>A (p.Leu86=) | ClinVar |
| 11 | g.45806059G>C | CA474036476 | SLC35C1 | c.219G>C (p.Leu73=) c.258G>C (p.Leu86=) | |
| 11 | g.45806059G>T | CA474036471 | SLC35C1 | c.219G>T (p.Leu73=) c.258G>T (p.Leu86=) | |
| 11 | g.45806060C>A | CA380202604 | SLC35C1 | c.220C>A (p.Leu74Met) c.259C>A (p.Leu87Met) | |
| 11 | g.45806060C= | CA1968692976 | SLC35C1 | c.220C= (p.Leu74=) c.259C= (p.Leu87=) | |
| 11 | g.45806060C>G | CA380202605 | SLC35C1 | c.220C>G (p.Leu74Val) c.259C>G (p.Leu87Val) | |
| 11 | g.45806060C>T | CA474036479 | SLC35C1 | c.220C>T (p.Leu74=) c.259C>T (p.Leu87=) | dbSNP gnomAD v2 |
| 11 | g.45806061T>A | CA380202606 | SLC35C1 | c.221T>A (p.Leu74Gln) c.260T>A (p.Leu87Gln) | |
| 11 | g.45806061T>C | CA380202607 | SLC35C1 | c.221T>C (p.Leu74Pro) c.260T>C (p.Leu87Pro) | ClinVar dbSNP |
| 11 | g.45806061T>G | CA380202608 | SLC35C1 | c.221T>G (p.Leu74Arg) c.260T>G (p.Leu87Arg) | |
| 11 | g.45806062G>A | CA474036485 | SLC35C1 | c.222G>A (p.Leu74=) c.261G>A (p.Leu87=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806062G>C | CA474036483 | SLC35C1 | c.222G>C (p.Leu74=) c.261G>C (p.Leu87=) | |
| 11 | g.45806062G= | CA1968692981 | SLC35C1 | c.222G= (p.Leu74=) c.261G= (p.Leu87=) | |
| 11 | g.45806062G>T | CA474036484 | SLC35C1 | c.222G>T (p.Leu74=) c.261G>T (p.Leu87=) | |
| 11 | g.45806063T>A | CA380202609 | SLC35C1 | c.223T>A (p.Cys75Ser) c.262T>A (p.Cys88Ser) | |
| 11 | g.45806063T>C | CA380202611 | SLC35C1 | c.223T>C (p.Cys75Arg) c.262T>C (p.Cys88Arg) | gnomAD v4 |
| 11 | g.45806063T>G | CA380202610 | SLC35C1 | c.223T>G (p.Cys75Gly) c.262T>G (p.Cys88Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806063T= | CA1968692986 | SLC35C1 | c.223T= (p.Cys75=) c.262T= (p.Cys88=) | |
| 11 | g.45806064G>A | CA380202612 | SLC35C1 | c.224G>A (p.Cys75Tyr) c.263G>A (p.Cys88Tyr) | gnomAD v4 |
| 11 | g.45806064G>C | CA380202613 | SLC35C1 | c.224G>C (p.Cys75Ser) c.263G>C (p.Cys88Ser) | |
| 11 | g.45806064G= | CA1968692987 | SLC35C1 | c.224G= (p.Cys75=) c.263G= (p.Cys88=) | |
| 11 | g.45806064G>T | CA380202614 | SLC35C1 | c.224G>T (p.Cys75Phe) c.263G>T (p.Cys88Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806065C>A | CA380202615 | SLC35C1 | c.225C>A (p.Cys75Ter) c.264C>A (p.Cys88Ter) | |
| 11 | g.45806065C>G | CA380202616 | SLC35C1 | c.225C>G (p.Cys75Trp) c.264C>G (p.Cys88Trp) | |
| 11 | g.45806065C>T | CA474036488 | SLC35C1 | c.225C>T (p.Cys75=) c.264C>T (p.Cys88=) | |
| 11 | g.45806066A>C | CA380202617 | SLC35C1 | c.226A>C (p.Lys76Gln) c.265A>C (p.Lys89Gln) | |
| 11 | g.45806066A>G | CA380202618 | SLC35C1 | c.226A>G (p.Lys76Glu) c.265A>G (p.Lys89Glu) | gnomAD v4 |
| 11 | g.45806066A>T | CA380202619 | SLC35C1 | c.226A>T (p.Lys76Ter) c.265A>T (p.Lys89Ter) | |
| 11 | g.45806068del | CA2695213701 | SLC35C1 | c.228del (p.Gly77AlafsTer?) c.267del (p.Gly90AlafsTer?) | |
| 11 | g.45806067A>C | CA380202620 | SLC35C1 | c.227A>C (p.Lys76Thr) c.266A>C (p.Lys89Thr) | |
| 11 | g.45806067A>G | CA380202621 | SLC35C1 | c.227A>G (p.Lys76Arg) c.266A>G (p.Lys89Arg) | |
| 11 | g.45806067A>T | CA380202622 | SLC35C1 | c.227A>T (p.Lys76Ile) c.266A>T (p.Lys89Ile) | |
| 11 | g.45806068A>C | CA380202623 | SLC35C1 | c.228A>C (p.Lys76Asn) c.267A>C (p.Lys89Asn) | |
| 11 | g.45806068A>G | CA474036493 | SLC35C1 | c.228A>G (p.Lys76=) c.267A>G (p.Lys89=) | |
| 11 | g.45806068A>T | CA380202624 | SLC35C1 | c.228A>T (p.Lys76Asn) c.267A>T (p.Lys89Asn) | |
| 11 | g.45806069G>A | CA380202627 | SLC35C1 | c.229G>A (p.Gly77Ser) c.268G>A (p.Gly90Ser) | |
| 11 | g.45806069G>C | CA380202625 | SLC35C1 | c.229G>C (p.Gly77Arg) c.268G>C (p.Gly90Arg) | |
| 11 | g.45806069G>T | CA380202626 | SLC35C1 | c.229G>T (p.Gly77Cys) c.268G>T (p.Gly90Cys) | |
| 11 | g.45806070G>A | CA380202628 | SLC35C1 | c.230G>A (p.Gly77Asp) c.269G>A (p.Gly90Asp) | gnomAD v4 |
| 11 | g.45806070G>C | CA380202629 | SLC35C1 | c.230G>C (p.Gly77Ala) c.269G>C (p.Gly90Ala) | |
| 11 | g.45806070G= | CA1968692988 | SLC35C1 | c.230G= (p.Gly77=) c.269G= (p.Gly90=) | |
| 11 | g.45806070G>T | CA380202630 | SLC35C1 | c.230G>T (p.Gly77Val) c.269G>T (p.Gly90Val) | dbSNP gnomAD v4 |
| 11 | g.45806071C>A | CA474036497 | SLC35C1 | c.231C>A (p.Gly77=) c.270C>A (p.Gly90=) | |
| 11 | g.45806071C= | CA1968692989 | SLC35C1 | c.231C= (p.Gly77=) c.270C= (p.Gly90=) | |
| 11 | g.45806071C>G | CA474036498 | SLC35C1 | c.231C>G (p.Gly77=) c.270C>G (p.Gly90=) | |
| 11 | g.45806071C>T | CA474036500 | SLC35C1 | c.231C>T (p.Gly77=) c.270C>T (p.Gly90=) | dbSNP |
| 11 | g.45806072C>A | CA380202631 | SLC35C1 | c.232C>A (p.Leu78Ile) c.271C>A (p.Leu91Ile) | |
| 11 | g.45806072C= | CA1968692990 | SLC35C1 | c.232C= (p.Leu78=) c.271C= (p.Leu91=) | |
| 11 | g.45806072C>G | CA380202632 | SLC35C1 | c.232C>G (p.Leu78Val) c.271C>G (p.Leu91Val) | |
| 11 | g.45806072C>T | CA380202633 | SLC35C1 | c.232C>T (p.Leu78Phe) c.271C>T (p.Leu91Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806073T>A | CA380202634 | SLC35C1 | c.233T>A (p.Leu78His) c.272T>A (p.Leu91His) | |
| 11 | g.45806073T>C | CA380202635 | SLC35C1 | c.233T>C (p.Leu78Pro) c.272T>C (p.Leu91Pro) | |
| 11 | g.45806073T>G | CA380202636 | SLC35C1 | c.233T>G (p.Leu78Arg) c.272T>G (p.Leu91Arg) | |
| 11 | g.45806074C>A | CA474036501 | SLC35C1 | c.234C>A (p.Leu78=) c.273C>A (p.Leu91=) | |
| 11 | g.45806074C= | CA1968692991 | SLC35C1 | c.234C= (p.Leu78=) c.273C= (p.Leu91=) | |
| 11 | g.45806074C>G | CA474036502 | SLC35C1 | c.234C>G (p.Leu78=) c.273C>G (p.Leu91=) | |
| 11 | g.45806074C>T | CA221585156 | SLC35C1 | c.234C>T (p.Leu78=) c.273C>T (p.Leu91=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806075A= | CA1968692992 | SLC35C1 | c.235A= (p.Ser79=) c.274A= (p.Ser92=) | |
| 11 | g.45806075A>C | CA380202637 | SLC35C1 | c.235A>C (p.Ser79Arg) c.274A>C (p.Ser92Arg) | |
| 11 | g.45806075A>G | CA380202638 | SLC35C1 | c.235A>G (p.Ser79Gly) c.274A>G (p.Ser92Gly) | dbSNP |
| 11 | g.45806075A>T | CA380202639 | SLC35C1 | c.235A>T (p.Ser79Cys) c.274A>T (p.Ser92Cys) | |
| 11 | g.45806076G>A | CA380202640 | SLC35C1 | c.236G>A (p.Ser79Asn) c.275G>A (p.Ser92Asn) | COSMIC |
| 11 | g.45806076G>C | CA380202642 | SLC35C1 | c.236G>C (p.Ser79Thr) c.275G>C (p.Ser92Thr) | |
| 11 | g.45806076G>T | CA380202641 | SLC35C1 | c.236G>T (p.Ser79Ile) c.275G>T (p.Ser92Ile) | gnomAD v4 |
| 11 | g.45806077C>A | CA380202643 | SLC35C1 | c.237C>A (p.Ser79Arg) c.276C>A (p.Ser92Arg) | |
| 11 | g.45806077C= | CA1968692993 | SLC35C1 | c.237C= (p.Ser79=) c.276C= (p.Ser92=) | |
| 11 | g.45806077C>G | CA380202644 | SLC35C1 | c.237C>G (p.Ser79Arg) c.276C>G (p.Ser92Arg) | |
| 11 | g.45806077C>T | CA5958212 | SLC35C1 | c.237C>T (p.Ser79=) c.276C>T (p.Ser92=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806078G>A | CA5958213 | SLC35C1 | c.238G>A (p.Ala80Thr) c.277G>A (p.Ala93Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806078G>C | CA380202645 | SLC35C1 | c.238G>C (p.Ala80Pro) c.277G>C (p.Ala93Pro) | dbSNP |
| 11 | g.45806078G= | CA1968692994 | SLC35C1 | c.238G= (p.Ala80=) c.277G= (p.Ala93=) | |
| 11 | g.45806078G>T | CA380202646 | SLC35C1 | c.238G>T (p.Ala80Ser) c.277G>T (p.Ala93Ser) | gnomAD v4 |
| 11 | g.45806079C>A | CA380202647 | SLC35C1 | c.239C>A (p.Ala80Asp) c.278C>A (p.Ala93Asp) | |
| 11 | g.45806079C>G | CA380202648 | SLC35C1 | c.239C>G (p.Ala80Gly) c.278C>G (p.Ala93Gly) | |
| 11 | g.45806079C>T | CA380202649 | SLC35C1 | c.239C>T (p.Ala80Val) c.278C>T (p.Ala93Val) | |
| 11 | g.45806080T>A | CA474036511 | SLC35C1 | c.240T>A (p.Ala80=) c.279T>A (p.Ala93=) | |
| 11 | g.45806080T>C | CA474036510 | SLC35C1 | c.240T>C (p.Ala80=) c.279T>C (p.Ala93=) | |
| 11 | g.45806080T>G | CA474036508 | SLC35C1 | c.240T>G (p.Ala80=) c.279T>G (p.Ala93=) | |
| 11 | g.45806081C>A | CA380202650 | SLC35C1 | c.241C>A (p.Leu81Met) c.280C>A (p.Leu94Met) | gnomAD v4 |
| 11 | g.45806081C>G | CA380202651 | SLC35C1 | c.241C>G (p.Leu81Val) c.280C>G (p.Leu94Val) | gnomAD v4 |
| 11 | g.45806081C>T | CA474036512 | SLC35C1 | c.241C>T (p.Leu81=) c.280C>T (p.Leu94=) | |
| 11 | g.45806082T>A | CA380202652 | SLC35C1 | c.242T>A (p.Leu81Gln) c.281T>A (p.Leu94Gln) | |
| 11 | g.45806082T>C | CA380202653 | SLC35C1 | c.242T>C (p.Leu81Pro) c.281T>C (p.Leu94Pro) | |
| 11 | g.45806082T>G | CA380202654 | SLC35C1 | c.242T>G (p.Leu81Arg) c.281T>G (p.Leu94Arg) | |
| 11 | g.45806083G>A | CA474036514 | SLC35C1 | c.243G>A (p.Leu81=) c.282G>A (p.Leu94=) | |
| 11 | g.45806083G>C | CA474036515 | SLC35C1 | c.243G>C (p.Leu81=) c.282G>C (p.Leu94=) | dbSNP |
| 11 | g.45806083G= | CA1968692995 | SLC35C1 | c.243G= (p.Leu81=) c.282G= (p.Leu94=) | |
| 11 | g.45806083G>T | CA474036516 | SLC35C1 | c.243G>T (p.Leu81=) c.282G>T (p.Leu94=) | |
| 11 | g.45806084G>A | CA380202657 | SLC35C1 | c.244G>A (p.Ala82Thr) c.283G>A (p.Ala95Thr) | gnomAD v4 |
| 11 | g.45806084G>C | CA380202656 | SLC35C1 | c.244G>C (p.Ala82Pro) c.283G>C (p.Ala95Pro) | |
| 11 | g.45806084G>T | CA380202655 | SLC35C1 | c.244G>T (p.Ala82Ser) c.283G>T (p.Ala95Ser) | |
| 11 | g.45806085C>A | CA380202658 | SLC35C1 | c.245C>A (p.Ala82Asp) c.284C>A (p.Ala95Asp) | |
| 11 | g.45806085C>G | CA380202659 | SLC35C1 | c.245C>G (p.Ala82Gly) c.284C>G (p.Ala95Gly) | |
| 11 | g.45806085C>T | CA380202660 | SLC35C1 | c.245C>T (p.Ala82Val) c.284C>T (p.Ala95Val) | gnomAD v4 |
| 11 | g.45806086del | CA2613258207 | SLC35C1 | c.246del (p.Ala83ProfsTer?) c.285del (p.Ala96ProfsTer?) | gnomAD v4 |
| 11 | g.45806086C>A | CA474036521 | SLC35C1 | c.246C>A (p.Ala82=) c.285C>A (p.Ala95=) | gnomAD v4 |
| 11 | g.45806086C= | CA1968692996 | SLC35C1 | c.246C= (p.Ala82=) c.285C= (p.Ala95=) | |
| 11 | g.45806086C>G | CA474036518 | SLC35C1 | c.246C>G (p.Ala82=) c.285C>G (p.Ala95=) | |
| 11 | g.45806086C>T | CA474036519 | SLC35C1 | c.246C>T (p.Ala82=) c.285C>T (p.Ala95=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806087G>A | CA380202661 | SLC35C1 | c.247G>A (p.Ala83Thr) c.286G>A (p.Ala96Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.45806087G>C | CA380202662 | SLC35C1 | c.247G>C (p.Ala83Pro) c.286G>C (p.Ala96Pro) | |
| 11 | g.45806087G= | CA1968692997 | SLC35C1 | c.247G= (p.Ala83=) c.286G= (p.Ala96=) | |
| 11 | g.45806087G>T | CA380202663 | SLC35C1 | c.247G>T (p.Ala83Ser) c.286G>T (p.Ala96Ser) | gnomAD v4 |
| 11 | g.45806088C>A | CA380202664 | SLC35C1 | c.248C>A (p.Ala83Asp) c.287C>A (p.Ala96Asp) | gnomAD v4 |
| 11 | g.45806088C= | CA1968692998 | SLC35C1 | c.248C= (p.Ala83=) c.287C= (p.Ala96=) | |
| 11 | g.45806088C>G | CA380202665 | SLC35C1 | c.248C>G (p.Ala83Gly) c.287C>G (p.Ala96Gly) | |
| 11 | g.45806088C>T | CA380202666 | SLC35C1 | c.248C>T (p.Ala83Val) c.287C>T (p.Ala96Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.45806089C>A | CA474036525 | SLC35C1 | c.249C>A (p.Ala83=) c.288C>A (p.Ala96=) | |
| 11 | g.45806089C= | CA1968692999 | SLC35C1 | c.249C= (p.Ala83=) c.288C= (p.Ala96=) | |
| 11 | g.45806089C>G | CA474036526 | SLC35C1 | c.249C>G (p.Ala83=) c.288C>G (p.Ala96=) | |
| 11 | g.45806089C>T | CA474036527 | SLC35C1 | c.249C>T (p.Ala83=) c.288C>T (p.Ala96=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806090T>A | CA380202667 | SLC35C1 | c.250T>A (p.Cys84Ser) c.289T>A (p.Cys97Ser) | |
| 11 | g.45806090T>C | CA380202668 | SLC35C1 | c.250T>C (p.Cys84Arg) c.289T>C (p.Cys97Arg) | COSMIC |
| 11 | g.45806090T>G | CA380202669 | SLC35C1 | c.250T>G (p.Cys84Gly) c.289T>G (p.Cys97Gly) | |
| 11 | g.45806090T= | CA1968693000 | SLC35C1 | c.250T= (p.Cys84=) c.289T= (p.Cys97=) | |
| 11 | g.45806091G>A | CA380202672 | SLC35C1 | c.251G>A (p.Cys84Tyr) c.290G>A (p.Cys97Tyr) | gnomAD v4 |
| 11 | g.45806091G>C | CA380202671 | SLC35C1 | c.251G>C (p.Cys84Ser) c.290G>C (p.Cys97Ser) | |
| 11 | g.45806091G>T | CA380202670 | SLC35C1 | c.251G>T (p.Cys84Phe) c.290G>T (p.Cys97Phe) | gnomAD v4 |
| 11 | g.45806091dup | CA599370744 | SLC35C1 | c.251dup (p.Cys84TrpfsTer?) c.290dup (p.Cys97TrpfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806092C>A | CA380202673 | SLC35C1 | c.252C>A (p.Cys84Ter) c.291C>A (p.Cys97Ter) | gnomAD v4 |
| 11 | g.45806092C= | CA1968693001 | SLC35C1 | c.252C= (p.Cys84=) c.291C= (p.Cys97=) | |
| 11 | g.45806092C>G | CA380202674 | SLC35C1 | c.252C>G (p.Cys84Trp) c.291C>G (p.Cys97Trp) | |
| 11 | g.45806092C>T | CA474036532 | SLC35C1 | c.252C>T (p.Cys84=) c.291C>T (p.Cys97=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806093T>A | CA380202675 | SLC35C1 | c.253T>A (p.Cys85Ser) c.292T>A (p.Cys98Ser) | |
| 11 | g.45806093T>C | CA380202676 | SLC35C1 | c.253T>C (p.Cys85Arg) c.292T>C (p.Cys98Arg) | gnomAD v4 |
| 11 | g.45806093T>G | CA380202677 | SLC35C1 | c.253T>G (p.Cys85Gly) c.292T>G (p.Cys98Gly) | |
| 11 | g.45806094G>A | CA221585178 | SLC35C1 | c.254G>A (p.Cys85Tyr) c.293G>A (p.Cys98Tyr) | dbSNP gnomAD v4 |
| 11 | g.45806094G>C | CA380202678 | SLC35C1 | c.254G>C (p.Cys85Ser) c.293G>C (p.Cys98Ser) | |
| 11 | g.45806094G= | CA1968693002 | SLC35C1 | c.254G= (p.Cys85=) c.293G= (p.Cys98=) | |
| 11 | g.45806094G>T | CA380202679 | SLC35C1 | c.254G>T (p.Cys85Phe) c.293G>T (p.Cys98Phe) | gnomAD v4 |
| 11 | g.45806095C>A | CA380202680 | SLC35C1 | c.255C>A (p.Cys85Ter) c.294C>A (p.Cys98Ter) | |
| 11 | g.45806095C= | CA1968693003 | SLC35C1 | c.255C= (p.Cys85=) c.294C= (p.Cys98=) | |
| 11 | g.45806095C>G | CA380202681 | SLC35C1 | c.255C>G (p.Cys85Trp) c.294C>G (p.Cys98Trp) | |
| 11 | g.45806095C>T | CA474036535 | SLC35C1 | c.255C>T (p.Cys85=) c.294C>T (p.Cys98=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806097del | CA2791288787 | SLC35C1 | c.257del (p.Pro86LeufsTer29) c.296del (p.Pro99LeufsTer29) | |
| 11 | g.45806096C>A | CA380202682 | SLC35C1 | c.256C>A (p.Pro86Thr) c.295C>A (p.Pro99Thr) | |
| 11 | g.45806096C>G | CA380202683 | SLC35C1 | c.256C>G (p.Pro86Ala) c.295C>G (p.Pro99Ala) | |
| 11 | g.45806096C>T | CA380202684 | SLC35C1 | c.256C>T (p.Pro86Ser) c.295C>T (p.Pro99Ser) | gnomAD v4 |
| 11 | g.45806097C>A | CA380202686 | SLC35C1 | c.257C>A (p.Pro86His) c.296C>A (p.Pro99His) | gnomAD v4 |
| 11 | g.45806097C= | CA1968693004 | SLC35C1 | c.257C= (p.Pro86=) c.296C= (p.Pro99=) | |
| 11 | g.45806097C>G | CA380202685 | SLC35C1 | c.257C>G (p.Pro86Arg) c.296C>G (p.Pro99Arg) | |
| 11 | g.45806097C>T | CA5958214 | SLC35C1 | c.257C>T (p.Pro86Leu) c.296C>T (p.Pro99Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.45806097_45806098dup | CA2613258208 | SLC35C1 | c.257_258dup (p.Gly87LeufsTer29) c.296_297dup (p.Gly100LeufsTer29) | gnomAD v4 |
| 11 | g.45806098T>A | CA474036539 | SLC35C1 | c.258T>A (p.Pro86=) c.297T>A (p.Pro99=) | |
| 11 | g.45806098T>C | CA474036540 | SLC35C1 | c.258T>C (p.Pro86=) c.297T>C (p.Pro99=) | |
| 11 | g.45806098T>G | CA474036541 | SLC35C1 | c.258T>G (p.Pro86=) c.297T>G (p.Pro99=) | |
| 11 | g.45806099G>A | CA380202687 | SLC35C1 | c.259G>A (p.Gly87Ser) c.298G>A (p.Gly100Ser) | |
| 11 | g.45806099G>C | CA380202688 | SLC35C1 | c.259G>C (p.Gly87Arg) c.298G>C (p.Gly100Arg) | |
| 11 | g.45806099G>T | CA380202689 | SLC35C1 | c.259G>T (p.Gly87Cys) c.298G>T (p.Gly100Cys) | gnomAD v4 COSMIC |
| 11 | g.45806100G>A | CA380202690 | SLC35C1 | c.260G>A (p.Gly87Asp) c.299G>A (p.Gly100Asp) | |
| 11 | g.45806100G>C | CA380202691 | SLC35C1 | c.260G>C (p.Gly87Ala) c.299G>C (p.Gly100Ala) | |
| 11 | g.45806100G>T | CA380202692 | SLC35C1 | c.260G>T (p.Gly87Val) c.299G>T (p.Gly100Val) | gnomAD v4 |
| 11 | g.45806101T>A | CA474036546 | SLC35C1 | c.261T>A (p.Gly87=) c.300T>A (p.Gly100=) | |
| 11 | g.45806101T>C | CA474036548 | SLC35C1 | c.261T>C (p.Gly87=) c.300T>C (p.Gly100=) | gnomAD v4 |
| 11 | g.45806101T>G | CA474036550 | SLC35C1 | c.261T>G (p.Gly87=) c.300T>G (p.Gly100=) | |
| 11 | g.45806102G>A | CA380202693 | SLC35C1 | c.262G>A (p.Ala88Thr) c.301G>A (p.Ala101Thr) | |
| 11 | g.45806102G>C | CA380202694 | SLC35C1 | c.262G>C (p.Ala88Pro) c.301G>C (p.Ala101Pro) | |
| 11 | g.45806102G>T | CA380202695 | SLC35C1 | c.262G>T (p.Ala88Ser) c.301G>T (p.Ala101Ser) | gnomAD v4 |
| 11 | g.45806103C>A | CA380202696 | SLC35C1 | c.263C>A (p.Ala88Asp) c.302C>A (p.Ala101Asp) | |
| 11 | g.45806103C>G | CA380202697 | SLC35C1 | c.263C>G (p.Ala88Gly) c.302C>G (p.Ala101Gly) | |
| 11 | g.45806103C>T | CA380202698 | SLC35C1 | c.263C>T (p.Ala88Val) c.302C>T (p.Ala101Val) | gnomAD v4 |
| 11 | g.45806104C>A | CA474036555 | SLC35C1 | c.264C>A (p.Ala88=) c.303C>A (p.Ala101=) | |
| 11 | g.45806104C= | CA1968693005 | SLC35C1 | c.264C= (p.Ala88=) c.303C= (p.Ala101=) | |
| 11 | g.45806104C>G | CA474036556 | SLC35C1 | c.264C>G (p.Ala88=) c.303C>G (p.Ala101=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806104C>T | CA474036558 | SLC35C1 | c.264C>T (p.Ala88=) c.303C>T (p.Ala101=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.45806105G>A | CA5958215 | SLC35C1 | c.265G>A (p.Val89Met) c.304G>A (p.Val102Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.45806105G>C | CA380202700 | SLC35C1 | c.265G>C (p.Val89Leu) c.304G>C (p.Val102Leu) | |
| 11 | g.45806105G= | CA1968693006 | SLC35C1 | c.265G= (p.Val89=) c.304G= (p.Val102=) | |
| 11 | g.45806105G>T | CA380202699 | SLC35C1 | c.265G>T (p.Val89Leu) c.304G>T (p.Val102Leu) | gnomAD v4 |
| 11 | g.45806106T>A | CA380202701 | SLC35C1 | c.266T>A (p.Val89Glu) c.305T>A (p.Val102Glu) | |
| 11 | g.45806106T>C | CA380202702 | SLC35C1 | c.266T>C (p.Val89Ala) c.305T>C (p.Val102Ala) | |
| 11 | g.45806106T>G | CA380202703 | SLC35C1 | c.266T>G (p.Val89Gly) c.305T>G (p.Val102Gly) | |
| 11 | g.45806107G>A | CA474036561 | SLC35C1 | c.267G>A (p.Val89=) c.306G>A (p.Val102=) | |
| 11 | g.45806107G>C | CA474036562 | SLC35C1 | c.267G>C (p.Val89=) c.306G>C (p.Val102=) | |
| 11 | g.45806107G>T | CA474036563 | SLC35C1 | c.267G>T (p.Val89=) c.306G>T (p.Val102=) | gnomAD v4 |
| 11 | g.45806108G>A | CA380202704 | SLC35C1 | c.268G>A (p.Asp90Asn) c.307G>A (p.Asp103Asn) | |
| 11 | g.45806108G>C | CA380202705 | SLC35C1 | c.268G>C (p.Asp90His) c.307G>C (p.Asp103His) | |
| 11 | g.45806108G= | CA1968693007 | SLC35C1 | c.268G= (p.Asp90=) c.307G= (p.Asp103=) | |
| 11 | g.45806108G>T | CA5958216 | SLC35C1 | c.268G>T (p.Asp90Tyr) c.307G>T (p.Asp103Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806109A>C | CA380202708 | SLC35C1 | c.269A>C (p.Asp90Ala) c.308A>C (p.Asp103Ala) | gnomAD v4 |
| 11 | g.45806109A>G | CA380202707 | SLC35C1 | c.269A>G (p.Asp90Gly) c.308A>G (p.Asp103Gly) | gnomAD v4 |
| 11 | g.45806109A>T | CA380202706 | SLC35C1 | c.269A>T (p.Asp90Val) c.308A>T (p.Asp103Val) | gnomAD v4 |
| 11 | g.45806110C>A | CA380202709 | SLC35C1 | c.270C>A (p.Asp90Glu) c.309C>A (p.Asp103Glu) | |
| 11 | g.45806110C= | CA1968693008 | SLC35C1 | c.270C= (p.Asp90=) c.309C= (p.Asp103=) | |
| 11 | g.45806110C>G | CA380202710 | SLC35C1 | c.270C>G (p.Asp90Glu) c.309C>G (p.Asp103Glu) | |
| 11 | g.45806110C>T | CA5958217 | SLC35C1 | c.270C>T (p.Asp90=) c.309C>T (p.Asp103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.45806111T>A | CA380202711 | SLC35C1 | c.271T>A (p.Phe91Ile) c.310T>A (p.Phe104Ile) | gnomAD v4 |
| 11 | g.45806111T>C | CA380202712 | SLC35C1 | c.271T>C (p.Phe91Leu) c.310T>C (p.Phe104Leu) | |
| 11 | g.45806111T>G | CA380202713 | SLC35C1 | c.271T>G (p.Phe91Val) c.310T>G (p.Phe104Val) | |
| 11 | g.45806112dup | CA2579753822 | SLC35C1 | c.272dup (p.Ser93GlnfsTer27) c.311dup (p.Ser106GlnfsTer27) |