Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.45805802_45805815del | CA599024287 | SLC35C1 | c.-31-8_-26del c.1_14del (p.Met1SerfsTer?) | gnomAD v2 gnomAD v4 |
11 | g.45805804_45805805delinsGA | CA1968692322 | SLC35C1 | c.-31-6_-31-5delinsGA (n.-31-6_-31-5delinsGA) c.3_4delinsGA (p.Met1=) | |
11 | g.45805805A>C | CA380201892 | SLC35C1 | c.-31-5A>C (n.-31-5A>C) c.4A>C (p.Asn2His) | |
11 | g.45805805A>G | CA380201893 | SLC35C1 | c.-31-5A>G (n.-31-5A>G) c.4A>G (p.Asn2Asp) | |
11 | g.45805805A>T | CA380201895 | SLC35C1 | c.-31-5A>T (n.-31-5A>T) c.4A>T (p.Asn2Tyr) | |
11 | g.45805806dup | CA2613258194 | SLC35C1 | c.-31-4dup (n.-31-4dup) c.5dup (p.Asn2LysfsTer2) | gnomAD v4 |
11 | g.45805806del | CA676888784 | SLC35C1 | c.-31-4del (n.-31-4del) c.5del (p.Asn2IlefsTer5) | dbSNP |
11 | g.45805806A>C | CA380201896 | SLC35C1 | c.-31-4A>C (n.-31-4A>C) c.5A>C (p.Asn2Thr) | dbSNP |
11 | g.45805806A>G | CA380201898 | SLC35C1 | c.-31-4A>G (n.-31-4A>G) c.5A>G (p.Asn2Ser) | |
11 | g.45805806A>T | CA380201900 | SLC35C1 | c.-31-4A>T (n.-31-4A>T) c.5A>T (p.Asn2Ile) | |
11 | g.45805807T>A | CA380201902 | SLC35C1 | c.-31-3T>A (n.-31-3T>A) c.6T>A (p.Asn2Lys) | |
11 | g.45805807T>C | CA474036283 | SLC35C1 | c.-31-3T>C (n.-31-3T>C) c.6T>C (p.Asn2=) | gnomAD v4 |
11 | g.45805807T>G | CA380201903 | SLC35C1 | c.-31-3T>G (n.-31-3T>G) c.6T>G (p.Asn2Lys) | |
11 | g.45805808A>C | CA474036284 | SLC35C1 | c.-31-2A>C (n.-31-2A>C) c.7A>C (p.Arg3=) | |
11 | g.45805808A>G | CA380201905 | SLC35C1 | c.-31-2A>G (n.-31-2A>G) c.7A>G (p.Arg3Gly) | |
11 | g.45805808A>T | CA380201907 | SLC35C1 | c.-31-2A>T (n.-31-2A>T) c.7A>T (p.Arg3Trp) | |
11 | g.45805809G>A | CA380201909 | SLC35C1 | c.-31-1G>A (n.-31-1G>A) c.8G>A (p.Arg3Lys) | |
11 | g.45805809G>C | CA380201910 | SLC35C1 | c.-31-1G>C (n.-31-1G>C) c.8G>C (p.Arg3Thr) | dbSNP gnomAD v4 |
11 | g.45805809G= | CA1968692327 | SLC35C1 | c.-31-1G= (n.-31-1G=) c.8G= (p.Arg3=) | |
11 | g.45805809G>T | CA380201912 | SLC35C1 | c.-31-1G>T (n.-31-1G>T) c.8G>T (p.Arg3Met) | gnomAD v4 |
11 | g.45805809_45805810insCAT | CA2613258195 | SLC35C1 | c.-31-1_-31insCAT (n.-31-1_-31insCAT) c.8_9insCAT (p.Arg3delinsSerMet) | gnomAD v4 |
11 | g.45805810G>A | CA474036285 | SLC35C1 | c.-31G>A (n.-31G>A) c.9G>A (p.Arg3=) | dbSNP gnomAD v4 |
11 | g.45805810G>C | CA380201914 | SLC35C1 | c.-31G>C (n.-31G>C) c.9G>C (p.Arg3Ser) | |
11 | g.45805810G= | CA1968692333 | SLC35C1 | c.-31G= (n.-31G=) c.9G= (p.Arg3=) | |
11 | g.45805810G>T | CA380201915 | SLC35C1 | c.-31G>T (n.-31G>T) c.9G>T (p.Arg3Ser) | |
11 | g.45805811G>A | CA221584914 | SLC35C1 | c.-30G>A (n.-30G>A) c.10G>A (p.Ala4Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.45805811G>C | CA380201918 | SLC35C1 | c.-30G>C (n.-30G>C) c.10G>C (p.Ala4Pro) | |
11 | g.45805811G= | CA1968692336 | SLC35C1 | c.-30G= (n.-30G=) c.10G= (p.Ala4=) | |
11 | g.45805811G>T | CA380201917 | SLC35C1 | c.-30G>T (n.-30G>T) c.10G>T (p.Ala4Ser) | gnomAD v4 |
11 | g.45805811_45805812insTAT | CA2613258196 | SLC35C1 | c.-30_-29insTAT (n.-30_-29insTAT) c.10_11insTAT (p.Ala4delinsValSer) | gnomAD v4 |
11 | g.45805812C>A | CA380201919 | SLC35C1 | c.-29C>A (n.-29C>A) c.11C>A (p.Ala4Asp) | gnomAD v4 |
11 | g.45805812C>G | CA380201920 | SLC35C1 | c.-29C>G (n.-29C>G) c.11C>G (p.Ala4Gly) | |
11 | g.45805812C>T | CA380201921 | SLC35C1 | c.-29C>T (n.-29C>T) c.11C>T (p.Ala4Val) | gnomAD v4 |
11 | g.45805813C>A | CA474036286 | SLC35C1 | c.-28C>A (n.-28C>A) c.12C>A (p.Ala4=) | gnomAD v4 |
11 | g.45805813C= | CA1968692343 | SLC35C1 | c.-28C= (n.-28C=) c.12C= (p.Ala4=) | |
11 | g.45805813C>G | CA474036287 | SLC35C1 | c.-28C>G (n.-28C>G) c.12C>G (p.Ala4=) | |
11 | g.45805813C>T | CA474036288 | SLC35C1 | c.-28C>T (n.-28C>T) c.12C>T (p.Ala4=) | ClinVar dbSNP gnomAD v4 |
11 | g.45805814C>A | CA380201922 | SLC35C1 | c.-27C>A (n.-27C>A) c.13C>A (p.Pro5Thr) | |
11 | g.45805814C>G | CA380201924 | SLC35C1 | c.-27C>G (n.-27C>G) c.13C>G (p.Pro5Ala) | |
11 | g.45805814C>T | CA380201926 | SLC35C1 | c.-27C>T (n.-27C>T) c.13C>T (p.Pro5Ser) | gnomAD v4 |
11 | g.45805815C>A | CA380201928 | SLC35C1 | c.-26C>A (n.-26C>A) c.14C>A (p.Pro5His) | gnomAD v4 |
11 | g.45805815C= | CA1968692349 | SLC35C1 | c.-26C= (n.-26C=) c.14C= (p.Pro5=) | |
11 | g.45805815C>G | CA380201930 | SLC35C1 | c.-26C>G (n.-26C>G) c.14C>G (p.Pro5Arg) | |
11 | g.45805815C>T | CA380201929 | SLC35C1 | c.-26C>T (n.-26C>T) c.14C>T (p.Pro5Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.45805816del | CA2613258197 | SLC35C1 | c.-25del (n.-25del) c.15del (p.Leu6Ter) | gnomAD v4 |
11 | g.45805816T>A | CA474036289 | SLC35C1 | c.-25T>A (n.-25T>A) c.15T>A (p.Pro5=) | |
11 | g.45805816T>C | CA474036290 | SLC35C1 | c.-25T>C (n.-25T>C) c.15T>C (p.Pro5=) | gnomAD v4 |
11 | g.45805816T>G | CA474036291 | SLC35C1 | c.-25T>G (n.-25T>G) c.15T>G (p.Pro5=) | |
11 | g.45805817C>A | CA380201933 | SLC35C1 | c.-24C>A (n.-24C>A) c.16C>A (p.Leu6Met) | |
11 | g.45805817C>G | CA380201934 | SLC35C1 | c.-24C>G (n.-24C>G) c.16C>G (p.Leu6Val) | gnomAD v4 |
11 | g.45805817C>T | CA474036292 | SLC35C1 | c.-24C>T (n.-24C>T) c.16C>T (p.Leu6=) | |
11 | g.45805818T>A | CA380201936 | SLC35C1 | c.-23T>A (n.-23T>A) c.17T>A (p.Leu6Gln) | |
11 | g.45805818T>C | CA380201937 | SLC35C1 | c.-23T>C (n.-23T>C) c.17T>C (p.Leu6Pro) | |
11 | g.45805818T>G | CA380201938 | SLC35C1 | c.-23T>G (n.-23T>G) c.17T>G (p.Leu6Arg) | |
11 | g.45805819G>A | CA474036293 | SLC35C1 | c.-22G>A (n.-22G>A) c.18G>A (p.Leu6=) | gnomAD v4 |
11 | g.45805819G>C | CA474036294 | SLC35C1 | c.-22G>C (n.-22G>C) c.18G>C (p.Leu6=) | |
11 | g.45805819G>T | CA474036295 | SLC35C1 | c.-22G>T (n.-22G>T) c.18G>T (p.Leu6=) | |
11 | g.45805820A= | CA1968692354 | SLC35C1 | c.-21A= (n.-21A=) c.19A= (p.Lys7=) | |
11 | g.45805820A>C | CA380201940 | SLC35C1 | c.-21A>C (n.-21A>C) c.19A>C (p.Lys7Gln) | |
11 | g.45805820A>G | CA5958167 | SLC35C1 | c.-21A>G (n.-21A>G) c.19A>G (p.Lys7Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805820A>T | CA380201942 | SLC35C1 | c.-21A>T (n.-21A>T) c.19A>T (p.Lys7Ter) | |
11 | g.45805821del | CA2791288786 | SLC35C1 | c.-20del (n.-20del) c.20del (p.Lys7SerfsTer10) | |
11 | g.45805821A>C | CA380201943 | SLC35C1 | c.-20A>C (n.-20A>C) c.20A>C (p.Lys7Thr) | |
11 | g.45805821A>G | CA380201944 | SLC35C1 | c.-20A>G (n.-20A>G) c.20A>G (p.Lys7Arg) | |
11 | g.45805821A>T | CA380201945 | SLC35C1 | c.-20A>T (n.-20A>T) c.20A>T (p.Lys7Met) | |
11 | g.45805822G>A | CA474036296 | SLC35C1 | c.-19G>A (n.-19G>A) c.21G>A (p.Lys7=) | |
11 | g.45805822G>C | CA380201947 | SLC35C1 | c.-19G>C (n.-19G>C) c.21G>C (p.Lys7Asn) | |
11 | g.45805822G>T | CA380201946 | SLC35C1 | c.-19G>T (n.-19G>T) c.21G>T (p.Lys7Asn) | |
11 | g.45805823C>A | CA474036297 | SLC35C1 | c.-18C>A (n.-18C>A) c.22C>A (p.Arg8=) | |
11 | g.45805823C= | CA1968692362 | SLC35C1 | c.-18C= (n.-18C=) c.22C= (p.Arg8=) | |
11 | g.45805823C>G | CA380201948 | SLC35C1 | c.-18C>G (n.-18C>G) c.22C>G (p.Arg8Gly) | |
11 | g.45805823C>T | CA5958168 | SLC35C1 | c.-18C>T (n.-18C>T) c.22C>T (p.Arg8Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805824G>A | CA380201951 | SLC35C1 | c.-17G>A (n.-17G>A) c.23G>A (p.Arg8Gln) | |
11 | g.45805824G>C | CA380201953 | SLC35C1 | c.-17G>C (n.-17G>C) c.23G>C (p.Arg8Pro) | |
11 | g.45805824G>T | CA380201952 | SLC35C1 | c.-17G>T (n.-17G>T) c.23G>T (p.Arg8Leu) | gnomAD v3 gnomAD v4 |
11 | g.45805825G>A | CA474036298 | SLC35C1 | c.-16G>A (n.-16G>A) c.24G>A (p.Arg8=) | dbSNP gnomAD v2 |
11 | g.45805825G>C | CA474036300 | SLC35C1 | c.-16G>C (n.-16G>C) c.24G>C (p.Arg8=) | |
11 | g.45805825G= | CA1968692367 | SLC35C1 | c.-16G= (n.-16G=) c.24G= (p.Arg8=) | |
11 | g.45805825G>T | CA474036299 | SLC35C1 | c.-16G>T (n.-16G>T) c.24G>T (p.Arg8=) | |
11 | g.45805826T>A | CA380201955 | SLC35C1 | c.-15T>A (n.-15T>A) c.25T>A (p.Ser9Thr) | |
11 | g.45805826T>C | CA380201959 | SLC35C1 | c.-15T>C (n.-15T>C) c.25T>C (p.Ser9Pro) | |
11 | g.45805826T>G | CA380201957 | SLC35C1 | c.-15T>G (n.-15T>G) c.25T>G (p.Ser9Ala) | |
11 | g.45805827C>A | CA380201960 | SLC35C1 | c.-14C>A (n.-14C>A) c.26C>A (p.Ser9Tyr) | |
11 | g.45805827C>G | CA380201962 | SLC35C1 | c.-14C>G (n.-14C>G) c.26C>G (p.Ser9Cys) | |
11 | g.45805827C>T | CA380201963 | SLC35C1 | c.-14C>T (n.-14C>T) c.26C>T (p.Ser9Phe) | gnomAD v4 |
11 | g.45805828C>A | CA474036301 | SLC35C1 | c.-13C>A (n.-13C>A) c.27C>A (p.Ser9=) | |
11 | g.45805828C>G | CA474036303 | SLC35C1 | c.-13C>G (n.-13C>G) c.27C>G (p.Ser9=) | |
11 | g.45805828C>T | CA474036302 | SLC35C1 | c.-13C>T (n.-13C>T) c.27C>T (p.Ser9=) | gnomAD v4 |
11 | g.45805829A= | CA1968692371 | SLC35C1 | c.-12A= (n.-12A=) c.28A= (p.Arg10=) | |
11 | g.45805829A>C | CA474036304 | SLC35C1 | c.-12A>C (n.-12A>C) c.28A>C (p.Arg10=) | |
11 | g.45805829A>G | CA380201965 | SLC35C1 | c.-12A>G (n.-12A>G) c.28A>G (p.Arg10Gly) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45805829A>T | CA380201966 | SLC35C1 | c.-12A>T (n.-12A>T) c.28A>T (p.Arg10Trp) | |
11 | g.45805830G>A | CA5958169 | SLC35C1 | c.-11G>A (n.-11G>A) c.29G>A (p.Arg10Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805830G>C | CA380201969 | SLC35C1 | c.-11G>C (n.-11G>C) c.29G>C (p.Arg10Thr) | |
11 | g.45805830G= | CA1968692385 | SLC35C1 | c.-11G= (n.-11G=) c.29G= (p.Arg10=) | |
11 | g.45805830G>T | CA380201971 | SLC35C1 | c.-11G>T (n.-11G>T) c.29G>T (p.Arg10Met) | |
11 | g.45805831G>A | CA474036306 | SLC35C1 | c.-10G>A (n.-10G>A) c.30G>A (p.Arg10=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805831G>C | CA5958170 | SLC35C1 | c.-10G>C (n.-10G>C) c.30G>C (p.Arg10Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805831G= | CA1968692390 | SLC35C1 | c.-10G= (n.-10G=) c.30G= (p.Arg10=) | |
11 | g.45805831G>T | CA380201972 | SLC35C1 | c.-10G>T (n.-10G>T) c.30G>T (p.Arg10Ser) | gnomAD v4 |
11 | g.45805832A= | CA1968692396 | SLC35C1 | c.-9A= (n.-9A=) c.31A= (p.Ile11=) | |
11 | g.45805832A>C | CA380201974 | SLC35C1 | c.-9A>C (n.-9A>C) c.31A>C (p.Ile11Leu) | |
11 | g.45805832A>G | CA380201976 | SLC35C1 | c.-9A>G (n.-9A>G) c.31A>G (p.Ile11Val) | dbSNP |
11 | g.45805832A>T | CA380201978 | SLC35C1 | c.-9A>T (n.-9A>T) c.31A>T (p.Ile11Phe) | |
11 | g.45805833T>A | CA380201979 | SLC35C1 | c.-8T>A (n.-8T>A) c.32T>A (p.Ile11Asn) | gnomAD v4 |
11 | g.45805833T>C | CA380201982 | SLC35C1 | c.-8T>C (n.-8T>C) c.32T>C (p.Ile11Thr) | |
11 | g.45805833T>G | CA380201980 | SLC35C1 | c.-8T>G (n.-8T>G) c.32T>G (p.Ile11Ser) | |
11 | g.45805834C>A | CA474036309 | SLC35C1 | c.-7C>A (n.-7C>A) c.33C>A (p.Ile11=) | |
11 | g.45805834C= | CA1968692398 | SLC35C1 | c.-7C= (n.-7C=) c.33C= (p.Ile11=) | |
11 | g.45805834C>G | CA380201984 | SLC35C1 | c.-7C>G (n.-7C>G) c.33C>G (p.Ile11Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805834C>T | CA474036310 | SLC35C1 | c.-7C>T (n.-7C>T) c.33C>T (p.Ile11=) | |
11 | g.45805835C>A | CA380201986 | SLC35C1 | c.-6C>A (n.-6C>A) c.34C>A (p.Leu12Met) | |
11 | g.45805835C= | CA1968692404 | SLC35C1 | c.-6C= (n.-6C=) c.34C= (p.Leu12=) | |
11 | g.45805835C>G | CA380201987 | SLC35C1 | c.-6C>G (n.-6C>G) c.34C>G (p.Leu12Val) | |
11 | g.45805835C>T | CA474036314 | SLC35C1 | c.-6C>T (n.-6C>T) c.34C>T (p.Leu12=) | dbSNP gnomAD v4 |
11 | g.45805836T>A | CA380201989 | SLC35C1 | c.-5T>A (n.-5T>A) c.35T>A (p.Leu12Gln) | |
11 | g.45805836T>C | CA380201990 | SLC35C1 | c.-5T>C (n.-5T>C) c.35T>C (p.Leu12Pro) | gnomAD v4 |
11 | g.45805836T>G | CA380201992 | SLC35C1 | c.-5T>G (n.-5T>G) c.35T>G (p.Leu12Arg) | |
11 | g.45805837G>A | CA474036315 | SLC35C1 | c.-4G>A (n.-4G>A) c.36G>A (p.Leu12=) | |
11 | g.45805837G>C | CA474036316 | SLC35C1 | c.-4G>C (n.-4G>C) c.36G>C (p.Leu12=) | |
11 | g.45805837G>T | CA474036317 | SLC35C1 | c.-4G>T (n.-4G>T) c.36G>T (p.Leu12=) | |
11 | g.45805838C>A | CA380201993 | SLC35C1 | c.-3C>A (n.-3C>A) c.37C>A (p.His13Asn) | |
11 | g.45805838C>G | CA380201995 | SLC35C1 | c.-3C>G (n.-3C>G) c.37C>G (p.His13Asp) | |
11 | g.45805838C>T | CA380201999 | SLC35C1 | c.-3C>T (n.-3C>T) c.37C>T (p.His13Tyr) | gnomAD v4 |
11 | g.45805839A>C | CA380202004 | SLC35C1 | c.-2A>C (n.-2A>C) c.38A>C (p.His13Pro) | |
11 | g.45805839A>G | CA380202002 | SLC35C1 | c.-2A>G (n.-2A>G) c.38A>G (p.His13Arg) | COSMIC |
11 | g.45805839A>T | CA380202001 | SLC35C1 | c.-2A>T (n.-2A>T) c.38A>T (p.His13Leu) | |
11 | g.45805840C>A | CA380202006 | SLC35C1 | c.-1C>A (n.-1C>A) c.39C>A (p.His13Gln) | |
11 | g.45805840C>G | CA380202008 | SLC35C1 | c.-1C>G (n.-1C>G) c.39C>G (p.His13Gln) | |
11 | g.45805840C>T | CA474036326 | SLC35C1 | c.-1C>T (n.-1C>T) c.39C>T (p.His13=) | |
11 | g.45805841A= | CA1968692408 | SLC35C1 | c.1A= (p.Met1=) c.40A= (p.Met14=) | |
11 | g.45805841A>C | CA380202009 | SLC35C1 | c.1A>C (p.Met1Leu) c.40A>C (p.Met14Leu) | |
11 | g.45805841A>G | CA380202010 | SLC35C1 | c.1A>G (p.Met1Val) c.40A>G (p.Met14Val) | ClinVar dbSNP gnomAD v4 |
11 | g.45805841A>T | CA5958171 | SLC35C1 | c.1A>T (p.Met1Leu) c.40A>T (p.Met14Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805842T>A | CA380202012 | SLC35C1 | c.2T>A (p.Met1Lys) c.41T>A (p.Met14Lys) | |
11 | g.45805842T>C | CA380202013 | SLC35C1 | c.2T>C (p.Met1Thr) c.41T>C (p.Met14Thr) | |
11 | g.45805842T>G | CA380202014 | SLC35C1 | c.2T>G (p.Met1Arg) c.41T>G (p.Met14Arg) | |
11 | g.45805843G>A | CA380202016 | SLC35C1 | c.3G>A (p.Met1Ile) c.42G>A (p.Met14Ile) | ClinVar |
11 | g.45805843G>C | CA380202017 | SLC35C1 | c.3G>C (p.Met1Ile) c.42G>C (p.Met14Ile) | |
11 | g.45805843G>T | CA380202019 | SLC35C1 | c.3G>T (p.Met1Ile) c.42G>T (p.Met14Ile) | |
11 | g.45805844G>A | CA380202034 | SLC35C1 | c.4G>A (p.Ala2Thr) c.43G>A (p.Ala15Thr) | |
11 | g.45805844G>C | CA380202033 | SLC35C1 | c.4G>C (p.Ala2Pro) c.43G>C (p.Ala15Pro) | gnomAD v4 |
11 | g.45805844G= | CA1968692411 | SLC35C1 | c.4G= (p.Ala2=) c.43G= (p.Ala15=) | |
11 | g.45805844G>T | CA380202032 | SLC35C1 | c.4G>T (p.Ala2Ser) c.43G>T (p.Ala15Ser) | dbSNP |
11 | g.45805845C>A | CA380202036 | SLC35C1 | c.5C>A (p.Ala2Glu) c.44C>A (p.Ala15Glu) | |
11 | g.45805845C>G | CA380202038 | SLC35C1 | c.5C>G (p.Ala2Gly) c.44C>G (p.Ala15Gly) | |
11 | g.45805845C>T | CA380202039 | SLC35C1 | c.5C>T (p.Ala2Val) c.44C>T (p.Ala15Val) | |
11 | g.45805846G>A | CA5958172 | SLC35C1 | c.6G>A (p.Ala2=) c.45G>A (p.Ala15=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805846G>C | CA474036330 | SLC35C1 | c.6G>C (p.Ala2=) c.45G>C (p.Ala15=) | |
11 | g.45805846G= | CA1968692414 | SLC35C1 | c.6G= (p.Ala2=) c.45G= (p.Ala15=) | |
11 | g.45805846G>T | CA474036332 | SLC35C1 | c.6G>T (p.Ala2=) c.45G>T (p.Ala15=) | |
11 | g.45805847C>A | CA380202042 | SLC35C1 | c.7C>A (p.Leu3Met) c.46C>A (p.Leu16Met) | |
11 | g.45805847C>G | CA380202044 | SLC35C1 | c.7C>G (p.Leu3Val) c.46C>G (p.Leu16Val) | |
11 | g.45805847C>T | CA474036334 | SLC35C1 | c.7C>T (p.Leu3=) c.46C>T (p.Leu16=) | |
11 | g.45805848T>A | CA380202045 | SLC35C1 | c.8T>A (p.Leu3Gln) c.47T>A (p.Leu16Gln) | |
11 | g.45805848T>C | CA380202046 | SLC35C1 | c.8T>C (p.Leu3Pro) c.47T>C (p.Leu16Pro) | |
11 | g.45805848T>G | CA380202047 | SLC35C1 | c.8T>G (p.Leu3Arg) c.47T>G (p.Leu16Arg) | |
11 | g.45805849G>A | CA474036338 | SLC35C1 | c.9G>A (p.Leu3=) c.48G>A (p.Leu16=) | |
11 | g.45805849G>C | CA474036335 | SLC35C1 | c.9G>C (p.Leu3=) c.48G>C (p.Leu16=) | |
11 | g.45805849G>T | CA474036337 | SLC35C1 | c.9G>T (p.Leu3=) c.48G>T (p.Leu16=) | |
11 | g.45805850A>C | CA380202049 | SLC35C1 | c.10A>C (p.Thr4Pro) c.49A>C (p.Thr17Pro) | |
11 | g.45805850A>G | CA380202051 | SLC35C1 | c.10A>G (p.Thr4Ala) c.49A>G (p.Thr17Ala) | |
11 | g.45805850A>T | CA380202054 | SLC35C1 | c.10A>T (p.Thr4Ser) c.49A>T (p.Thr17Ser) | |
11 | g.45805851C>A | CA380202059 | SLC35C1 | c.11C>A (p.Thr4Asn) c.50C>A (p.Thr17Asn) | |
11 | g.45805851C>G | CA380202058 | SLC35C1 | c.11C>G (p.Thr4Ser) c.50C>G (p.Thr17Ser) | |
11 | g.45805851C>T | CA380202057 | SLC35C1 | c.11C>T (p.Thr4Ile) c.50C>T (p.Thr17Ile) | |
11 | g.45805852C>A | CA5958173 | SLC35C1 | c.12C>A (p.Thr4=) c.51C>A (p.Thr17=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805852C= | CA1968692419 | SLC35C1 | c.12C= (p.Thr4=) c.51C= (p.Thr17=) | |
11 | g.45805852C>G | CA474036342 | SLC35C1 | c.12C>G (p.Thr4=) c.51C>G (p.Thr17=) | dbSNP |
11 | g.45805852C>T | CA5958174 | SLC35C1 | c.12C>T (p.Thr4=) c.51C>T (p.Thr17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805853G>A | CA380202062 | SLC35C1 | c.13G>A (p.Gly5Arg) c.52G>A (p.Gly18Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805853G>C | CA380202063 | SLC35C1 | c.13G>C (p.Gly5Arg) c.52G>C (p.Gly18Arg) | |
11 | g.45805853G= | CA1968692425 | SLC35C1 | c.13G= (p.Gly5=) c.52G= (p.Gly18=) | |
11 | g.45805853G>T | CA380202064 | SLC35C1 | c.13G>T (p.Gly5Trp) c.52G>T (p.Gly18Trp) | |
11 | g.45805854G>A | CA380202066 | SLC35C1 | c.14G>A (p.Gly5Glu) c.53G>A (p.Gly18Glu) | |
11 | g.45805854G>C | CA380202067 | SLC35C1 | c.14G>C (p.Gly5Ala) c.53G>C (p.Gly18Ala) | gnomAD v4 |
11 | g.45805854G>T | CA380202068 | SLC35C1 | c.14G>T (p.Gly5Val) c.53G>T (p.Gly18Val) | |
11 | g.45805855G>A | CA5958175 | SLC35C1 | c.15G>A (p.Gly5=) c.54G>A (p.Gly18=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805855G>C | CA474036345 | SLC35C1 | c.15G>C (p.Gly5=) c.54G>C (p.Gly18=) | |
11 | g.45805855G= | CA1968692428 | SLC35C1 | c.15G= (p.Gly5=) c.54G= (p.Gly18=) | |
11 | g.45805855G>T | CA474036346 | SLC35C1 | c.15G>T (p.Gly5=) c.54G>T (p.Gly18=) | |
11 | g.45805856G>A | CA380202071 | SLC35C1 | c.16G>A (p.Ala6Thr) c.55G>A (p.Ala19Thr) | gnomAD v4 |
11 | g.45805856G>C | CA380202073 | SLC35C1 | c.16G>C (p.Ala6Pro) c.55G>C (p.Ala19Pro) | |
11 | g.45805856G= | CA1968692432 | SLC35C1 | c.16G= (p.Ala6=) c.55G= (p.Ala19=) | |
11 | g.45805856G>T | CA380202074 | SLC35C1 | c.16G>T (p.Ala6Ser) c.55G>T (p.Ala19Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805857C>A | CA380202075 | SLC35C1 | c.17C>A (p.Ala6Asp) c.56C>A (p.Ala19Asp) | |
11 | g.45805857C>G | CA380202076 | SLC35C1 | c.17C>G (p.Ala6Gly) c.56C>G (p.Ala19Gly) | |
11 | g.45805857C>T | CA380202078 | SLC35C1 | c.17C>T (p.Ala6Val) c.56C>T (p.Ala19Val) | |
11 | g.45805858C>A | CA474036350 | SLC35C1 | c.18C>A (p.Ala6=) c.57C>A (p.Ala19=) | |
11 | g.45805858C= | CA1968692438 | SLC35C1 | c.18C= (p.Ala6=) c.57C= (p.Ala19=) | |
11 | g.45805858C>G | CA474036351 | SLC35C1 | c.18C>G (p.Ala6=) c.57C>G (p.Ala19=) | |
11 | g.45805858C>T | CA474036352 | SLC35C1 | c.18C>T (p.Ala6=) c.57C>T (p.Ala19=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45805859T>A | CA380202082 | SLC35C1 | c.19T>A (p.Ser7Thr) c.58T>A (p.Ser20Thr) | |
11 | g.45805859T>C | CA380202079 | SLC35C1 | c.19T>C (p.Ser7Pro) c.58T>C (p.Ser20Pro) | ClinVar gnomAD v4 |
11 | g.45805859T>G | CA380202081 | SLC35C1 | c.19T>G (p.Ser7Ala) c.58T>G (p.Ser20Ala) | ClinVar dbSNP gnomAD v4 |
11 | g.45805859T= | CA1968692446 | SLC35C1 | c.19T= (p.Ser7=) c.58T= (p.Ser20=) | |
11 | g.45805860C>A | CA380202084 | SLC35C1 | c.20C>A (p.Ser7Ter) c.59C>A (p.Ser20Ter) | |
11 | g.45805860C>G | CA380202085 | SLC35C1 | c.20C>G (p.Ser7Ter) c.59C>G (p.Ser20Ter) | |
11 | g.45805860C>T | CA380202087 | SLC35C1 | c.20C>T (p.Ser7Leu) c.59C>T (p.Ser20Leu) | |
11 | g.45805861A= | CA1968692449 | SLC35C1 | c.21A= (p.Ser7=) c.60A= (p.Ser20=) | |
11 | g.45805861A>C | CA474036355 | SLC35C1 | c.21A>C (p.Ser7=) c.60A>C (p.Ser20=) | |
11 | g.45805861A>G | CA474036356 | SLC35C1 | c.21A>G (p.Ser7=) c.60A>G (p.Ser20=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805861A>T | CA474036357 | SLC35C1 | c.21A>T (p.Ser7=) c.60A>T (p.Ser20=) | |
11 | g.45805861_45805862delinsAG | CA1968692451 | SLC35C1 | c.21_22delinsAG (p.Ser7=) c.60_61delinsAG (p.Ser20=) | |
11 | g.45805862del | CA937547681 | SLC35C1 | c.22del (p.Asp8ThrfsTer?) c.61del (p.Asp21ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45805862G>A | CA380202089 | SLC35C1 | c.22G>A (p.Asp8Asn) c.61G>A (p.Asp21Asn) | |
11 | g.45805862G>C | CA380202091 | SLC35C1 | c.22G>C (p.Asp8His) c.61G>C (p.Asp21His) | |
11 | g.45805862G>T | CA380202092 | SLC35C1 | c.22G>T (p.Asp8Tyr) c.61G>T (p.Asp21Tyr) | |
11 | g.45805863A= | CA1968692455 | SLC35C1 | c.23A= (p.Asp8=) c.62A= (p.Asp21=) | |
11 | g.45805863A>C | CA380202094 | SLC35C1 | c.23A>C (p.Asp8Ala) c.62A>C (p.Asp21Ala) | |
11 | g.45805863A>G | CA380202096 | SLC35C1 | c.23A>G (p.Asp8Gly) c.62A>G (p.Asp21Gly) | |
11 | g.45805863A>T | CA380202098 | SLC35C1 | c.23A>T (p.Asp8Val) c.62A>T (p.Asp21Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805864C>A | CA5958176 | SLC35C1 | c.24C>A (p.Asp8Glu) c.63C>A (p.Asp21Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805864C= | CA1968692461 | SLC35C1 | c.24C= (p.Asp8=) c.63C= (p.Asp21=) | |
11 | g.45805864C>G | CA380202099 | SLC35C1 | c.24C>G (p.Asp8Glu) c.63C>G (p.Asp21Glu) | |
11 | g.45805864C>T | CA474036359 | SLC35C1 | c.24C>T (p.Asp8=) c.63C>T (p.Asp21=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805865C>A | CA380202103 | SLC35C1 | c.25C>A (p.Pro9Thr) c.64C>A (p.Pro22Thr) | |
11 | g.45805865C>G | CA380202102 | SLC35C1 | c.25C>G (p.Pro9Ala) c.64C>G (p.Pro22Ala) | |
11 | g.45805865C>T | CA380202101 | SLC35C1 | c.25C>T (p.Pro9Ser) c.64C>T (p.Pro22Ser) | |
11 | g.45805866C>A | CA380202105 | SLC35C1 | c.26C>A (p.Pro9His) c.65C>A (p.Pro22His) | |
11 | g.45805866C= | CA1968692464 | SLC35C1 | c.26C= (p.Pro9=) c.65C= (p.Pro22=) | |
11 | g.45805866C>G | CA380202106 | SLC35C1 | c.26C>G (p.Pro9Arg) c.65C>G (p.Pro22Arg) | |
11 | g.45805866C>T | CA380202108 | SLC35C1 | c.26C>T (p.Pro9Leu) c.65C>T (p.Pro22Leu) | dbSNP gnomAD v4 |
11 | g.45805867C>A | CA474036362 | SLC35C1 | c.27C>A (p.Pro9=) c.66C>A (p.Pro22=) | |
11 | g.45805867C= | CA1968692467 | SLC35C1 | c.27C= (p.Pro9=) c.66C= (p.Pro22=) | |
11 | g.45805867C>G | CA474036363 | SLC35C1 | c.27C>G (p.Pro9=) c.66C>G (p.Pro22=) | |
11 | g.45805867C>T | CA474036364 | SLC35C1 | c.27C>T (p.Pro9=) c.66C>T (p.Pro22=) | ClinVar dbSNP |
11 | g.45805868T>A | CA380202109 | SLC35C1 | c.28T>A (p.Ser10Thr) c.67T>A (p.Ser23Thr) | |
11 | g.45805868T>C | CA380202111 | SLC35C1 | c.28T>C (p.Ser10Pro) c.67T>C (p.Ser23Pro) | |
11 | g.45805868T>G | CA380202112 | SLC35C1 | c.28T>G (p.Ser10Ala) c.67T>G (p.Ser23Ala) | |
11 | g.45805869C>A | CA380202114 | SLC35C1 | c.29C>A (p.Ser10Tyr) c.68C>A (p.Ser23Tyr) | |
11 | g.45805869C= | CA1968692469 | SLC35C1 | c.29C= (p.Ser10=) c.68C= (p.Ser23=) | |
11 | g.45805869C>G | CA380202115 | SLC35C1 | c.29C>G (p.Ser10Cys) c.68C>G (p.Ser23Cys) | |
11 | g.45805869C>T | CA5958177 | SLC35C1 | c.29C>T (p.Ser10Phe) c.68C>T (p.Ser23Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805870T>A | CA474036369 | SLC35C1 | c.30T>A (p.Ser10=) c.69T>A (p.Ser23=) | |
11 | g.45805870T>C | CA474036371 | SLC35C1 | c.30T>C (p.Ser10=) c.69T>C (p.Ser23=) | |
11 | g.45805870T>G | CA474036370 | SLC35C1 | c.30T>G (p.Ser10=) c.69T>G (p.Ser23=) | |
11 | g.45805870_45805876delinsTGCAGAG | CA1968692473 | SLC35C1 | c.30_36delinsTGCAGAG (p.Ser10=) c.69_75delinsTGCAGAG (p.Ser23=) | |
11 | g.45805871G>A | CA380202117 | SLC35C1 | c.31G>A (p.Ala11Thr) c.70G>A (p.Ala24Thr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.45805871G>C | CA380202119 | SLC35C1 | c.31G>C (p.Ala11Pro) c.70G>C (p.Ala24Pro) | |
11 | g.45805871G= | CA1968692478 | SLC35C1 | c.31G= (p.Ala11=) c.70G= (p.Ala24=) | |
11 | g.45805871G>T | CA380202121 | SLC35C1 | c.31G>T (p.Ala11Ser) c.70G>T (p.Ala24Ser) | |
11 | g.45805879_45805884dup | CA2613258198 | SLC35C1 | c.39_44dup (p.Ala15_Asn16insGluAla) c.78_83dup (p.Ala28_Asn29insGluAla) | gnomAD v4 |
11 | g.45805879_45805884del | CA221584958 | SLC35C1 | c.39_44del (p.Glu14_Ala15del) c.78_83del (p.Glu27_Ala28del) | dbSNP |
11 | g.45805872C>A | CA380202126 | SLC35C1 | c.32C>A (p.Ala11Glu) c.71C>A (p.Ala24Glu) | COSMIC |
11 | g.45805872C>G | CA380202122 | SLC35C1 | c.32C>G (p.Ala11Gly) c.71C>G (p.Ala24Gly) | |
11 | g.45805872C>T | CA380202124 | SLC35C1 | c.32C>T (p.Ala11Val) c.71C>T (p.Ala24Val) | |
11 | g.45805873A>C | CA474036373 | SLC35C1 | c.33A>C (p.Ala11=) c.72A>C (p.Ala24=) | |
11 | g.45805873A>G | CA474036374 | SLC35C1 | c.33A>G (p.Ala11=) c.72A>G (p.Ala24=) | |
11 | g.45805873A>T | CA474036375 | SLC35C1 | c.33A>T (p.Ala11=) c.72A>T (p.Ala24=) | |
11 | g.45805874G>A | CA380202127 | SLC35C1 | c.34G>A (p.Glu12Lys) c.73G>A (p.Glu25Lys) | ClinVar gnomAD v4 |
11 | g.45805874G>C | CA380202129 | SLC35C1 | c.34G>C (p.Glu12Gln) c.73G>C (p.Glu25Gln) | |
11 | g.45805874G>T | CA380202131 | SLC35C1 | c.34G>T (p.Glu12Ter) c.73G>T (p.Glu25Ter) | |
11 | g.45805875A>C | CA380202133 | SLC35C1 | c.35A>C (p.Glu12Ala) c.74A>C (p.Glu25Ala) | |
11 | g.45805875A>G | CA380202134 | SLC35C1 | c.35A>G (p.Glu12Gly) c.74A>G (p.Glu25Gly) | |
11 | g.45805875A>T | CA380202135 | SLC35C1 | c.35A>T (p.Glu12Val) c.74A>T (p.Glu25Val) | |
11 | g.45805876G>A | CA5958178 | SLC35C1 | c.36G>A (p.Glu12=) c.75G>A (p.Glu25=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.45805876G>C | CA380202138 | SLC35C1 | c.36G>C (p.Glu12Asp) c.75G>C (p.Glu25Asp) | |
11 | g.45805876G= | CA1968692484 | SLC35C1 | c.36G= (p.Glu12=) c.75G= (p.Glu25=) | |
11 | g.45805876G>T | CA380202140 | SLC35C1 | c.36G>T (p.Glu12Asp) c.75G>T (p.Glu25Asp) | |
11 | g.45805877G>A | CA5958179 | SLC35C1 | c.37G>A (p.Ala13Thr) c.76G>A (p.Ala26Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805877G>C | CA380202141 | SLC35C1 | c.37G>C (p.Ala13Pro) c.76G>C (p.Ala26Pro) | |
11 | g.45805877G= | CA1968692487 | SLC35C1 | c.37G= (p.Ala13=) c.76G= (p.Ala26=) | |
11 | g.45805877G>T | CA380202143 | SLC35C1 | c.37G>T (p.Ala13Ser) c.76G>T (p.Ala26Ser) | |
11 | g.45805878C>A | CA380202146 | SLC35C1 | c.38C>A (p.Ala13Glu) c.77C>A (p.Ala26Glu) | |
11 | g.45805878C>G | CA380202148 | SLC35C1 | c.38C>G (p.Ala13Gly) c.77C>G (p.Ala26Gly) | |
11 | g.45805878C>T | CA380202145 | SLC35C1 | c.38C>T (p.Ala13Val) c.77C>T (p.Ala26Val) | |
11 | g.45805879A= | CA1968692493 | SLC35C1 | c.39A= (p.Ala13=) c.78A= (p.Ala26=) | |
11 | g.45805879A>C | CA474036381 | SLC35C1 | c.39A>C (p.Ala13=) c.78A>C (p.Ala26=) | |
11 | g.45805879A>G | CA5958180 | SLC35C1 | c.39A>G (p.Ala13=) c.78A>G (p.Ala26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805879A>T | CA474036380 | SLC35C1 | c.39A>T (p.Ala13=) c.78A>T (p.Ala26=) | |
11 | g.45805880G>A | CA380202150 | SLC35C1 | c.40G>A (p.Glu14Lys) c.79G>A (p.Glu27Lys) | |
11 | g.45805880G>C | CA380202152 | SLC35C1 | c.40G>C (p.Glu14Gln) c.79G>C (p.Glu27Gln) | |
11 | g.45805880G>T | CA380202153 | SLC35C1 | c.40G>T (p.Glu14Ter) c.79G>T (p.Glu27Ter) | |
11 | g.45805881A>C | CA380202154 | SLC35C1 | c.41A>C (p.Glu14Ala) c.80A>C (p.Glu27Ala) | |
11 | g.45805881A>G | CA380202156 | SLC35C1 | c.41A>G (p.Glu14Gly) c.80A>G (p.Glu27Gly) | |
11 | g.45805881A>T | CA380202158 | SLC35C1 | c.41A>T (p.Glu14Val) c.80A>T (p.Glu27Val) | |
11 | g.45805882G>A | CA5958181 | SLC35C1 | c.42G>A (p.Glu14=) c.81G>A (p.Glu27=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805882G>C | CA380202160 | SLC35C1 | c.42G>C (p.Glu14Asp) c.81G>C (p.Glu27Asp) | |
11 | g.45805882G= | CA1968692498 | SLC35C1 | c.42G= (p.Glu14=) c.81G= (p.Glu27=) | |
11 | g.45805882G>T | CA380202161 | SLC35C1 | c.42G>T (p.Glu14Asp) c.81G>T (p.Glu27Asp) | |
11 | g.45805883G>A | CA380202163 | SLC35C1 | c.43G>A (p.Ala15Thr) c.82G>A (p.Ala28Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805883G>C | CA380202164 | SLC35C1 | c.43G>C (p.Ala15Pro) c.82G>C (p.Ala28Pro) | |
11 | g.45805883G= | CA1968692504 | SLC35C1 | c.43G= (p.Ala15=) c.82G= (p.Ala28=) | |
11 | g.45805883G>T | CA380202166 | SLC35C1 | c.43G>T (p.Ala15Ser) c.82G>T (p.Ala28Ser) | |
11 | g.45805884C>A | CA380202170 | SLC35C1 | c.44C>A (p.Ala15Asp) c.83C>A (p.Ala28Asp) | |
11 | g.45805884C>G | CA380202169 | SLC35C1 | c.44C>G (p.Ala15Gly) c.83C>G (p.Ala28Gly) | |
11 | g.45805884C>T | CA380202167 | SLC35C1 | c.44C>T (p.Ala15Val) c.83C>T (p.Ala28Val) | |
11 | g.45805885C>A | CA474036386 | SLC35C1 | c.45C>A (p.Ala15=) c.84C>A (p.Ala28=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805885C= | CA1968692509 | SLC35C1 | c.45C= (p.Ala15=) c.84C= (p.Ala28=) | |
11 | g.45805885C>G | CA474036387 | SLC35C1 | c.45C>G (p.Ala15=) c.84C>G (p.Ala28=) | |
11 | g.45805885C>T | CA474036388 | SLC35C1 | c.45C>T (p.Ala15=) c.84C>T (p.Ala28=) | gnomAD v4 |
11 | g.45805886A= | CA1968692514 | SLC35C1 | c.46A= (p.Asn16=) c.85A= (p.Asn29=) | |
11 | g.45805886A>C | CA380202172 | SLC35C1 | c.46A>C (p.Asn16His) c.85A>C (p.Asn29His) | ClinVar dbSNP gnomAD v4 |
11 | g.45805886A>G | CA380202173 | SLC35C1 | c.46A>G (p.Asn16Asp) c.85A>G (p.Asn29Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805886A>T | CA380202175 | SLC35C1 | c.46A>T (p.Asn16Tyr) c.85A>T (p.Asn29Tyr) | |
11 | g.45805887A>C | CA380202176 | SLC35C1 | c.47A>C (p.Asn16Thr) c.86A>C (p.Asn29Thr) | |
11 | g.45805887A>G | CA380202178 | SLC35C1 | c.47A>G (p.Asn16Ser) c.86A>G (p.Asn29Ser) | gnomAD v4 |
11 | g.45805887A>T | CA380202180 | SLC35C1 | c.47A>T (p.Asn16Ile) c.86A>T (p.Asn29Ile) | |
11 | g.45805888C>A | CA380202182 | SLC35C1 | c.48C>A (p.Asn16Lys) c.87C>A (p.Asn29Lys) | |
11 | g.45805888C= | CA1968692523 | SLC35C1 | c.48C= (p.Asn16=) c.87C= (p.Asn29=) | |
11 | g.45805888C>G | CA380202183 | SLC35C1 | c.48C>G (p.Asn16Lys) c.87C>G (p.Asn29Lys) | |
11 | g.45805888C>T | CA474036392 | SLC35C1 | c.48C>T (p.Asn16=) c.87C>T (p.Asn29=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.45805889G>A | CA5958182 | SLC35C1 | c.49G>A (p.Gly17Arg) c.88G>A (p.Gly30Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805889G>C | CA5958183 | SLC35C1 | c.49G>C (p.Gly17Arg) c.88G>C (p.Gly30Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.45805889G= | CA1968692532 | SLC35C1 | c.49G= (p.Gly17=) c.88G= (p.Gly30=) | |
11 | g.45805889G>T | CA380202186 | SLC35C1 | c.49G>T (p.Gly17Trp) c.88G>T (p.Gly30Trp) | |
11 | g.45805890G>A | CA380202188 | SLC35C1 | c.50G>A (p.Gly17Glu) c.89G>A (p.Gly30Glu) | |
11 | g.45805890G>C | CA380202189 | SLC35C1 | c.50G>C (p.Gly17Ala) c.89G>C (p.Gly30Ala) | gnomAD v4 |
11 | g.45805890G>T | CA380202190 | SLC35C1 | c.50G>T (p.Gly17Val) c.89G>T (p.Gly30Val) | |
11 | g.45805891G>A | CA5958184 | SLC35C1 | c.51G>A (p.Gly17=) c.90G>A (p.Gly30=) | dbSNP ExAC |
11 | g.45805891G>C | CA474036398 | SLC35C1 | c.51G>C (p.Gly17=) c.90G>C (p.Gly30=) | dbSNP gnomAD v4 |
11 | g.45805891G= | CA1968692541 | SLC35C1 | c.51G= (p.Gly17=) c.90G= (p.Gly30=) | |
11 | g.45805891G>T | CA474036399 | SLC35C1 | c.51G>T (p.Gly17=) c.90G>T (p.Gly30=) | |
11 | g.45805892G>A | CA380202193 | SLC35C1 | c.52G>A (p.Glu18Lys) c.91G>A (p.Glu31Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.45805892G>C | CA380202194 | SLC35C1 | c.52G>C (p.Glu18Gln) c.91G>C (p.Glu31Gln) | |
11 | g.45805892G= | CA1968692551 | SLC35C1 | c.52G= (p.Glu18=) c.91G= (p.Glu31=) | |
11 | g.45805892G>T | CA223533 | SLC35C1 | c.52G>T (p.Glu18Ter) c.91G>T (p.Glu31Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.45805893A>C | CA380202196 | SLC35C1 | c.53A>C (p.Glu18Ala) c.92A>C (p.Glu31Ala) | |
11 | g.45805893A>G | CA380202197 | SLC35C1 | c.53A>G (p.Glu18Gly) c.92A>G (p.Glu31Gly) | |
11 | g.45805893A>T | CA380202199 | SLC35C1 | c.53A>T (p.Glu18Val) c.92A>T (p.Glu31Val) | |
11 | g.45805894G>A | CA474036401 | SLC35C1 | c.54G>A (p.Glu18=) c.93G>A (p.Glu31=) | gnomAD v4 |
11 | g.45805894G>C | CA380202201 | SLC35C1 | c.54G>C (p.Glu18Asp) c.93G>C (p.Glu31Asp) | |
11 | g.45805894G>T | CA380202202 | SLC35C1 | c.54G>T (p.Glu18Asp) c.93G>T (p.Glu31Asp) | |
11 | g.45805895A>C | CA380202204 | SLC35C1 | c.55A>C (p.Lys19Gln) c.94A>C (p.Lys32Gln) | |
11 | g.45805895A>G | CA380202206 | SLC35C1 | c.55A>G (p.Lys19Glu) c.94A>G (p.Lys32Glu) | |
11 | g.45805895A>T | CA380202208 | SLC35C1 | c.55A>T (p.Lys19Ter) c.94A>T (p.Lys32Ter) | |
11 | g.45805896A>C | CA380202209 | SLC35C1 | c.56A>C (p.Lys19Thr) c.95A>C (p.Lys32Thr) | |
11 | g.45805896A>G | CA380202210 | SLC35C1 | c.56A>G (p.Lys19Arg) c.95A>G (p.Lys32Arg) | |
11 | g.45805896A>T | CA380202212 | SLC35C1 | c.56A>T (p.Lys19Met) c.95A>T (p.Lys32Met) | |
11 | g.45805897G>A | CA474036404 | SLC35C1 | c.57G>A (p.Lys19=) c.96G>A (p.Lys32=) | |
11 | g.45805897G>C | CA380202214 | SLC35C1 | c.57G>C (p.Lys19Asn) c.96G>C (p.Lys32Asn) | |
11 | g.45805897G>T | CA380202215 | SLC35C1 | c.57G>T (p.Lys19Asn) c.96G>T (p.Lys32Asn) | |
11 | g.45805898C>A | CA380202220 | SLC35C1 | c.58C>A (p.Pro20Thr) c.97C>A (p.Pro33Thr) | |
11 | g.45805898C= | CA1968692558 | SLC35C1 | c.58C= (p.Pro20=) c.97C= (p.Pro33=) | |
11 | g.45805898C>G | CA380202217 | SLC35C1 | c.58C>G (p.Pro20Ala) c.97C>G (p.Pro33Ala) | |
11 | g.45805898C>T | CA380202218 | SLC35C1 | c.58C>T (p.Pro20Ser) c.97C>T (p.Pro33Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805900del | CA2574805525 | SLC35C1 | c.60del (p.Leu22CysfsTer?) c.99del (p.Leu35CysfsTer?) | |
11 | g.45805899C>A | CA380202222 | SLC35C1 | c.59C>A (p.Pro20His) c.98C>A (p.Pro33His) | |
11 | g.45805899C= | CA1968692564 | SLC35C1 | c.59C= (p.Pro20=) c.98C= (p.Pro33=) | |
11 | g.45805899C>G | CA380202224 | SLC35C1 | c.59C>G (p.Pro20Arg) c.98C>G (p.Pro33Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805899C>T | CA380202225 | SLC35C1 | c.59C>T (p.Pro20Leu) c.98C>T (p.Pro33Leu) | |
11 | g.45805900C>A | CA474036407 | SLC35C1 | c.60C>A (p.Pro20=) c.99C>A (p.Pro33=) | |
11 | g.45805900C>G | CA474036408 | SLC35C1 | c.60C>G (p.Pro20=) c.99C>G (p.Pro33=) | |
11 | g.45805900C>T | CA474036410 | SLC35C1 | c.60C>T (p.Pro20=) c.99C>T (p.Pro33=) | gnomAD v4 |
11 | g.45805901T>A | CA380202227 | SLC35C1 | c.61T>A (p.Phe21Ile) c.100T>A (p.Phe34Ile) | |
11 | g.45805901T>C | CA380202228 | SLC35C1 | c.61T>C (p.Phe21Leu) c.100T>C (p.Phe34Leu) | |
11 | g.45805901T>G | CA380202229 | SLC35C1 | c.61T>G (p.Phe21Val) c.100T>G (p.Phe34Val) | |
11 | g.45805902T>A | CA380202231 | SLC35C1 | c.62T>A (p.Phe21Tyr) c.101T>A (p.Phe34Tyr) | |
11 | g.45805902T>C | CA380202232 | SLC35C1 | c.62T>C (p.Phe21Ser) c.101T>C (p.Phe34Ser) | gnomAD v4 |
11 | g.45805902T>G | CA380202234 | SLC35C1 | c.62T>G (p.Phe21Cys) c.101T>G (p.Phe34Cys) | |
11 | g.45805903T>A | CA380202235 | SLC35C1 | c.63T>A (p.Phe21Leu) c.102T>A (p.Phe34Leu) | |
11 | g.45805903T>C | CA221584982 | SLC35C1 | c.63T>C (p.Phe21=) c.102T>C (p.Phe34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.45805903T>G | CA380202237 | SLC35C1 | c.63T>G (p.Phe21Leu) c.102T>G (p.Phe34Leu) | |
11 | g.45805903T= | CA1968692573 | SLC35C1 | c.63T= (p.Phe21=) c.102T= (p.Phe34=) | |
11 | g.45805904C>A | CA380202239 | SLC35C1 | c.64C>A (p.Leu22Met) c.103C>A (p.Leu35Met) | |
11 | g.45805904C= | CA1968692586 | SLC35C1 | c.64C= (p.Leu22=) c.103C= (p.Leu35=) | |
11 | g.45805904C>G | CA380202240 | SLC35C1 | c.64C>G (p.Leu22Val) c.103C>G (p.Leu35Val) | |
11 | g.45805904C>T | CA221584991 | SLC35C1 | c.64C>T (p.Leu22=) c.103C>T (p.Leu35=) | dbSNP gnomAD v4 |
11 | g.45805905T>A | CA380202242 | SLC35C1 | c.65T>A (p.Leu22Gln) c.104T>A (p.Leu35Gln) | |
11 | g.45805905T>C | CA380202243 | SLC35C1 | c.65T>C (p.Leu22Pro) c.104T>C (p.Leu35Pro) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.45805905T>G | CA380202244 | SLC35C1 | c.65T>G (p.Leu22Arg) c.104T>G (p.Leu35Arg) | |
11 | g.45805905T= | CA1968692591 | SLC35C1 | c.65T= (p.Leu22=) c.104T= (p.Leu35=) |