Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.56004371A>C | CA385290171 | SUOX | c.982A>C (p.Thr328Pro) c.*170A>C (n.*170A>C) c.1003A>C (p.Thr335Pro) | |
12 | g.56004371A>G | CA385290175 | SUOX | c.982A>G (p.Thr328Ala) c.*170A>G (n.*170A>G) c.1003A>G (p.Thr335Ala) | |
12 | g.56004371A>T | CA385290178 | SUOX | c.982A>T (p.Thr328Ser) c.*170A>T (n.*170A>T) c.1003A>T (p.Thr335Ser) | |
12 | g.56004372C>A | CA385290181 | SUOX | c.983C>A (p.Thr328Asn) c.*171C>A (n.*171C>A) c.1004C>A (p.Thr335Asn) | |
12 | g.56004372C= | CA2038197844 | SUOX | c.983C= (p.Thr328=) c.*171C= (n.*171C=) c.1004C= (p.Thr335=) | |
12 | g.56004372C>G | CA385290187 | SUOX | c.983C>G (p.Thr328Ser) c.*171C>G (n.*171C>G) c.1004C>G (p.Thr335Ser) | |
12 | g.56004372C>T | CA6621074 | SUOX | c.983C>T (p.Thr328Ile) c.*171C>T (n.*171C>T) c.1004C>T (p.Thr335Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004373T>A | CA480366210 | SUOX | c.984T>A (p.Thr328=) c.*172T>A (n.*172T>A) c.1005T>A (p.Thr335=) | |
12 | g.56004373T>C | CA480366216 | SUOX | c.984T>C (p.Thr328=) c.*172T>C (n.*172T>C) c.1005T>C (p.Thr335=) | |
12 | g.56004373T>G | CA480366217 | SUOX | c.984T>G (p.Thr328=) c.*172T>G (n.*172T>G) c.1005T>G (p.Thr335=) | |
12 | g.56004373dup | CA2619253738 | SUOX | c.984dup (p.Ala329CysfsTer15) c.*172dup (n.*172dup) c.1005dup (p.Ala336CysfsTer15) | gnomAD v4 |
12 | g.56004374G>A | CA6621075 | SUOX | c.985G>A (p.Ala329Thr) c.*173G>A (n.*173G>A) c.1006G>A (p.Ala336Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004374G>C | CA385290202 | SUOX | c.985G>C (p.Ala329Pro) c.*173G>C (n.*173G>C) c.1006G>C (p.Ala336Pro) | gnomAD v4 |
12 | g.56004374G= | CA2038197845 | SUOX | c.985G= (p.Ala329=) c.*173G= (n.*173G=) c.1006G= (p.Ala336=) | |
12 | g.56004374G>T | CA385290199 | SUOX | c.985G>T (p.Ala329Ser) c.*173G>T (n.*173G>T) c.1006G>T (p.Ala336Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004375C>A | CA385290203 | SUOX | c.986C>A (p.Ala329Asp) c.*174C>A (n.*174C>A) c.1007C>A (p.Ala336Asp) | |
12 | g.56004375C>G | CA385290204 | SUOX | c.986C>G (p.Ala329Gly) c.*174C>G (n.*174C>G) c.1007C>G (p.Ala336Gly) | |
12 | g.56004375C>T | CA385290208 | SUOX | c.986C>T (p.Ala329Val) c.*174C>T (n.*174C>T) c.1007C>T (p.Ala336Val) | |
12 | g.56004376C>A | CA480366221 | SUOX | c.987C>A (p.Ala329=) c.*175C>A (n.*175C>A) c.1008C>A (p.Ala336=) | |
12 | g.56004376C>G | CA480366222 | SUOX | c.987C>G (p.Ala329=) c.*175C>G (n.*175C>G) c.1008C>G (p.Ala336=) | |
12 | g.56004376C>T | CA480366223 | SUOX | c.987C>T (p.Ala329=) c.*175C>T (n.*175C>T) c.1008C>T (p.Ala336=) | |
12 | g.56004377T>A | CA385290212 | SUOX | c.988T>A (p.Tyr330Asn) c.*176T>A (n.*176T>A) c.1009T>A (p.Tyr337Asn) | |
12 | g.56004377T>C | CA385290218 | SUOX | c.988T>C (p.Tyr330His) c.*176T>C (n.*176T>C) c.1009T>C (p.Tyr337His) | |
12 | g.56004377T>G | CA385290221 | SUOX | c.988T>G (p.Tyr330Asp) c.*176T>G (n.*176T>G) c.1009T>G (p.Tyr337Asp) | |
12 | g.56004378A= | CA2038197846 | SUOX | c.989A= (p.Tyr330=) c.*177A= (n.*177A=) c.1010A= (p.Tyr337=) | |
12 | g.56004378A>C | CA385290226 | SUOX | c.989A>C (p.Tyr330Ser) c.*177A>C (n.*177A>C) c.1010A>C (p.Tyr337Ser) | |
12 | g.56004378A>G | CA6621076 | SUOX | c.989A>G (p.Tyr330Cys) c.*177A>G (n.*177A>G) c.1010A>G (p.Tyr337Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004378A>T | CA385290227 | SUOX | c.989A>T (p.Tyr330Phe) c.*177A>T (n.*177A>T) c.1010A>T (p.Tyr337Phe) | gnomAD v4 |
12 | g.56004379T>A | CA385290228 | SUOX | c.990T>A (p.Tyr330Ter) c.*178T>A (n.*178T>A) c.1011T>A (p.Tyr337Ter) | |
12 | g.56004379T>C | CA480366228 | SUOX | c.990T>C (p.Tyr330=) c.*178T>C (n.*178T>C) c.1011T>C (p.Tyr337=) | |
12 | g.56004379T>G | CA385290230 | SUOX | c.990T>G (p.Tyr330Ter) c.*178T>G (n.*178T>G) c.1011T>G (p.Tyr337Ter) | |
12 | g.56004380G>A | CA385290243 | SUOX | c.991G>A (p.Gly331Arg) c.*179G>A (n.*179G>A) c.1012G>A (p.Gly338Arg) | |
12 | g.56004380G>C | CA385290240 | SUOX | c.991G>C (p.Gly331Arg) c.*179G>C (n.*179G>C) c.1012G>C (p.Gly338Arg) | |
12 | g.56004380G>T | CA385290236 | SUOX | c.991G>T (p.Gly331Ter) c.*179G>T (n.*179G>T) c.1012G>T (p.Gly338Ter) | |
12 | g.56004381G>A | CA385290247 | SUOX | c.992G>A (p.Gly331Glu) c.*180G>A (n.*180G>A) c.1013G>A (p.Gly338Glu) | |
12 | g.56004381G>C | CA385290253 | SUOX | c.992G>C (p.Gly331Ala) c.*180G>C (n.*180G>C) c.1013G>C (p.Gly338Ala) | |
12 | g.56004381G>T | CA385290257 | SUOX | c.992G>T (p.Gly331Val) c.*180G>T (n.*180G>T) c.1013G>T (p.Gly338Val) | |
12 | g.56004382A>C | CA480366230 | SUOX | c.993A>C (p.Gly331=) c.*181A>C (n.*181A>C) c.1014A>C (p.Gly338=) | gnomAD v4 |
12 | g.56004382A>G | CA480366231 | SUOX | c.993A>G (p.Gly331=) c.*181A>G (n.*181A>G) c.1014A>G (p.Gly338=) | |
12 | g.56004382A>T | CA480366232 | SUOX | c.993A>T (p.Gly331=) c.*181A>T (n.*181A>T) c.1014A>T (p.Gly338=) | |
12 | g.56004383G>A | CA385290263 | SUOX | c.994G>A (p.Ala332Thr) c.*182G>A (n.*182G>A) c.1015G>A (p.Ala339Thr) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004383G>C | CA385290267 | SUOX | c.994G>C (p.Ala332Pro) c.*182G>C (n.*182G>C) c.1015G>C (p.Ala339Pro) | |
12 | g.56004383G= | CA2038197847 | SUOX | c.994G= (p.Ala332=) c.*182G= (n.*182G=) c.1015G= (p.Ala339=) | |
12 | g.56004383G>T | CA385290269 | SUOX | c.994G>T (p.Ala332Ser) c.*182G>T (n.*182G>T) c.1015G>T (p.Ala339Ser) | |
12 | g.56004384C>A | CA385290272 | SUOX | c.995C>A (p.Ala332Glu) c.*183C>A (n.*183C>A) c.1016C>A (p.Ala339Glu) | |
12 | g.56004384C>G | CA385290273 | SUOX | c.995C>G (p.Ala332Gly) c.*183C>G (n.*183C>G) c.1016C>G (p.Ala339Gly) | |
12 | g.56004384C>T | CA385290274 | SUOX | c.995C>T (p.Ala332Val) c.*183C>T (n.*183C>T) c.1016C>T (p.Ala339Val) | |
12 | g.56004385A>C | CA480366235 | SUOX | c.996A>C (p.Ala332=) c.*184A>C (n.*184A>C) c.1017A>C (p.Ala339=) | |
12 | g.56004385A>G | CA480366236 | SUOX | c.996A>G (p.Ala332=) c.*184A>G (n.*184A>G) c.1017A>G (p.Ala339=) | |
12 | g.56004385A>T | CA480366237 | SUOX | c.996A>T (p.Ala332=) c.*184A>T (n.*184A>T) c.1017A>T (p.Ala339=) | |
12 | g.56004386T>A | CA385290277 | SUOX | c.997T>A (p.Ser333Thr) c.*185T>A (n.*185T>A) c.1018T>A (p.Ser340Thr) | |
12 | g.56004386T>C | CA385290285 | SUOX | c.997T>C (p.Ser333Pro) c.*185T>C (n.*185T>C) c.1018T>C (p.Ser340Pro) | gnomAD v4 |
12 | g.56004386T>G | CA385290286 | SUOX | c.997T>G (p.Ser333Ala) c.*185T>G (n.*185T>G) c.1018T>G (p.Ser340Ala) | |
12 | g.56004387C>A | CA385290293 | SUOX | c.998C>A (p.Ser333Tyr) c.*186C>A (n.*186C>A) c.1019C>A (p.Ser340Tyr) | |
12 | g.56004387C>G | CA385290292 | SUOX | c.998C>G (p.Ser333Cys) c.*186C>G (n.*186C>G) c.1019C>G (p.Ser340Cys) | |
12 | g.56004387C>T | CA385290289 | SUOX | c.998C>T (p.Ser333Phe) c.*186C>T (n.*186C>T) c.1019C>T (p.Ser340Phe) | |
12 | g.56004388C>A | CA480366241 | SUOX | c.999C>A (p.Ser333=) c.*187C>A (n.*187C>A) c.1020C>A (p.Ser340=) | |
12 | g.56004388C>G | CA480366242 | SUOX | c.999C>G (p.Ser333=) c.*187C>G (n.*187C>G) c.1020C>G (p.Ser340=) | |
12 | g.56004388C>T | CA480366243 | SUOX | c.999C>T (p.Ser333=) c.*187C>T (n.*187C>T) c.1020C>T (p.Ser340=) | |
12 | g.56004389A= | CA2038197848 | SUOX | c.1000A= (p.Ile334=) c.*188A= (n.*188A=) c.1021A= (p.Ile341=) | |
12 | g.56004389A>C | CA385290298 | SUOX | c.1000A>C (p.Ile334Leu) c.*188A>C (n.*188A>C) c.1021A>C (p.Ile341Leu) | |
12 | g.56004389A>G | CA385290296 | SUOX | c.1000A>G (p.Ile334Val) c.*188A>G (n.*188A>G) c.1021A>G (p.Ile341Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004389A>T | CA385290300 | SUOX | c.1000A>T (p.Ile334Phe) c.*188A>T (n.*188A>T) c.1021A>T (p.Ile341Phe) | |
12 | g.56004390T>A | CA385290303 | SUOX | c.1001T>A (p.Ile334Asn) c.*189T>A (n.*189T>A) c.1022T>A (p.Ile341Asn) | |
12 | g.56004390T>C | CA385290307 | SUOX | c.1001T>C (p.Ile334Thr) c.*189T>C (n.*189T>C) c.1022T>C (p.Ile341Thr) | |
12 | g.56004390T>G | CA385290310 | SUOX | c.1001T>G (p.Ile334Ser) c.*189T>G (n.*189T>G) c.1022T>G (p.Ile341Ser) | |
12 | g.56004391C>A | CA480366248 | SUOX | c.1002C>A (p.Ile334=) c.*190C>A (n.*190C>A) c.1023C>A (p.Ile341=) | |
12 | g.56004391C>G | CA385290312 | SUOX | c.1002C>G (p.Ile334Met) c.*190C>G (n.*190C>G) c.1023C>G (p.Ile341Met) | |
12 | g.56004391C>T | CA480366247 | SUOX | c.1002C>T (p.Ile334=) c.*190C>T (n.*190C>T) c.1023C>T (p.Ile341=) | |
12 | g.56004392C>A | CA385290316 | SUOX | c.1003C>A (p.Pro335Thr) c.*191C>A (n.*191C>A) c.1024C>A (p.Pro342Thr) | |
12 | g.56004392C= | CA2038197849 | SUOX | c.1003C= (p.Pro335=) c.*191C= (n.*191C=) c.1024C= (p.Pro342=) | |
12 | g.56004392C>G | CA385290318 | SUOX | c.1003C>G (p.Pro335Ala) c.*191C>G (n.*191C>G) c.1024C>G (p.Pro342Ala) | |
12 | g.56004392C>T | CA385290323 | SUOX | c.1003C>T (p.Pro335Ser) c.*191C>T (n.*191C>T) c.1024C>T (p.Pro342Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004393C>A | CA385290327 | SUOX | c.1004C>A (p.Pro335His) c.*192C>A (n.*192C>A) c.1025C>A (p.Pro342His) | COSMIC |
12 | g.56004393C= | CA2038197850 | SUOX | c.1004C= (p.Pro335=) c.*192C= (n.*192C=) c.1025C= (p.Pro342=) | |
12 | g.56004393C>G | CA6621077 | SUOX | c.1004C>G (p.Pro335Arg) c.*192C>G (n.*192C>G) c.1025C>G (p.Pro342Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004393C>T | CA385290332 | SUOX | c.1004C>T (p.Pro335Leu) c.*192C>T (n.*192C>T) c.1025C>T (p.Pro342Leu) | gnomAD v4 |
12 | g.56004394T>A | CA480366252 | SUOX | c.1005T>A (p.Pro335=) c.*193T>A (n.*193T>A) c.1026T>A (p.Pro342=) | |
12 | g.56004394T>C | CA480366253 | SUOX | c.1005T>C (p.Pro335=) c.*193T>C (n.*193T>C) c.1026T>C (p.Pro342=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004394T>G | CA480366254 | SUOX | c.1005T>G (p.Pro335=) c.*193T>G (n.*193T>G) c.1026T>G (p.Pro342=) | |
12 | g.56004394T= | CA2038197851 | SUOX | c.1005T= (p.Pro335=) c.*193T= (n.*193T=) c.1026T= (p.Pro342=) | |
12 | g.56004395C>A | CA385290335 | SUOX | c.1006C>A (p.Leu336Met) c.*194C>A (n.*194C>A) c.1027C>A (p.Leu343Met) | |
12 | g.56004395C= | CA2038197852 | SUOX | c.1006C= (p.Leu336=) c.*194C= (n.*194C=) c.1027C= (p.Leu343=) | |
12 | g.56004395C>G | CA6621078 | SUOX | c.1006C>G (p.Leu336Val) c.*194C>G (n.*194C>G) c.1027C>G (p.Leu343Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004395C>T | CA480366255 | SUOX | c.1006C>T (p.Leu336=) c.*194C>T (n.*194C>T) c.1027C>T (p.Leu343=) | ClinVar dbSNP |
12 | g.56004396T>A | CA385290350 | SUOX | c.1007T>A (p.Leu336Gln) c.*195T>A (n.*195T>A) c.1028T>A (p.Leu343Gln) | |
12 | g.56004396T>C | CA385290342 | SUOX | c.1007T>C (p.Leu336Pro) c.*195T>C (n.*195T>C) c.1028T>C (p.Leu343Pro) | |
12 | g.56004396T>G | CA385290344 | SUOX | c.1007T>G (p.Leu336Arg) c.*195T>G (n.*195T>G) c.1028T>G (p.Leu343Arg) | |
12 | g.56004397G>A | CA480366258 | SUOX | c.1008G>A (p.Leu336=) c.*196G>A (n.*196G>A) c.1029G>A (p.Leu343=) | |
12 | g.56004397G>C | CA480366260 | SUOX | c.1008G>C (p.Leu336=) c.*196G>C (n.*196G>C) c.1029G>C (p.Leu343=) | |
12 | g.56004397G>T | CA480366259 | SUOX | c.1008G>T (p.Leu336=) c.*196G>T (n.*196G>T) c.1029G>T (p.Leu343=) | |
12 | g.56004398G>A | CA385290353 | SUOX | c.1009G>A (p.Ala337Thr) c.*197G>A (n.*197G>A) c.1030G>A (p.Ala344Thr) | |
12 | g.56004398G>C | CA385290356 | SUOX | c.1009G>C (p.Ala337Pro) c.*197G>C (n.*197G>C) c.1030G>C (p.Ala344Pro) | |
12 | g.56004398G>T | CA385290358 | SUOX | c.1009G>T (p.Ala337Ser) c.*197G>T (n.*197G>T) c.1030G>T (p.Ala344Ser) | |
12 | g.56004399C>A | CA385290361 | SUOX | c.1010C>A (p.Ala337Asp) c.*198C>A (n.*198C>A) c.1031C>A (p.Ala344Asp) | |
12 | g.56004399C>G | CA385290363 | SUOX | c.1010C>G (p.Ala337Gly) c.*198C>G (n.*198C>G) c.1031C>G (p.Ala344Gly) | |
12 | g.56004399C>T | CA385290365 | SUOX | c.1010C>T (p.Ala337Val) c.*198C>T (n.*198C>T) c.1031C>T (p.Ala344Val) | gnomAD v4 |
12 | g.56004400T>A | CA480366262 | SUOX | c.1011T>A (p.Ala337=) c.*199T>A (n.*199T>A) c.1032T>A (p.Ala344=) | |
12 | g.56004400T>C | CA480366264 | SUOX | c.1011T>C (p.Ala337=) c.*199T>C (n.*199T>C) c.1032T>C (p.Ala344=) | |
12 | g.56004400T>G | CA480366263 | SUOX | c.1011T>G (p.Ala337=) c.*199T>G (n.*199T>G) c.1032T>G (p.Ala344=) | |
12 | g.56004401C>A | CA480366265 | SUOX | c.1012C>A (p.Arg338=) c.*200C>A (n.*200C>A) c.1033C>A (p.Arg345=) | |
12 | g.56004401C= | CA2038197853 | SUOX | c.1012C= (p.Arg338=) c.*200C= (n.*200C=) c.1033C= (p.Arg345=) | |
12 | g.56004401C>G | CA385290369 | SUOX | c.1012C>G (p.Arg338Gly) c.*200C>G (n.*200C>G) c.1033C>G (p.Arg345Gly) | |
12 | g.56004401C>T | CA6621079 | SUOX | c.1012C>T (p.Arg338Trp) c.*200C>T (n.*200C>T) c.1033C>T (p.Arg345Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004401dup | CA2841086724 | SUOX | c.1012dup (p.Arg338ProfsTer6) c.*200dup (n.*200dup) c.1033dup (p.Arg345ProfsTer6) | |
12 | g.56004402G>A | CA6621080 | SUOX | c.1013G>A (p.Arg338Gln) c.*201G>A (n.*201G>A) c.1034G>A (p.Arg345Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004402G>C | CA385290375 | SUOX | c.1013G>C (p.Arg338Pro) c.*201G>C (n.*201G>C) c.1034G>C (p.Arg345Pro) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004402G= | CA2038197854 | SUOX | c.1013G= (p.Arg338=) c.*201G= (n.*201G=) c.1034G= (p.Arg345=) | |
12 | g.56004402G>T | CA385290378 | SUOX | c.1013G>T (p.Arg338Leu) c.*201G>T (n.*201G>T) c.1034G>T (p.Arg345Leu) | |
12 | g.56004403G>A | CA480366266 | SUOX | c.1014G>A (p.Arg338=) c.*202G>A (n.*202G>A) c.1035G>A (p.Arg345=) | ClinVar gnomAD v4 |
12 | g.56004403G>C | CA480366267 | SUOX | c.1014G>C (p.Arg338=) c.*202G>C (n.*202G>C) c.1035G>C (p.Arg345=) | COSMIC |
12 | g.56004403G>T | CA480366268 | SUOX | c.1014G>T (p.Arg338=) c.*202G>T (n.*202G>T) c.1035G>T (p.Arg345=) | |
12 | g.56004404G>A | CA385290385 | SUOX | c.1015G>A (p.Ala339Thr) c.*203G>A (n.*203G>A) c.1036G>A (p.Ala346Thr) | gnomAD v4 |
12 | g.56004404G>C | CA385290387 | SUOX | c.1015G>C (p.Ala339Pro) c.*203G>C (n.*203G>C) c.1036G>C (p.Ala346Pro) | |
12 | g.56004404G>T | CA385290382 | SUOX | c.1015G>T (p.Ala339Ser) c.*203G>T (n.*203G>T) c.1036G>T (p.Ala346Ser) | |
12 | g.56004405C>A | CA385290392 | SUOX | c.1016C>A (p.Ala339Asp) c.*204C>A (n.*204C>A) c.1037C>A (p.Ala346Asp) | |
12 | g.56004405C= | CA2038197855 | SUOX | c.1016C= (p.Ala339=) c.*204C= (n.*204C=) c.1037C= (p.Ala346=) | |
12 | g.56004405C>G | CA385290394 | SUOX | c.1016C>G (p.Ala339Gly) c.*204C>G (n.*204C>G) c.1037C>G (p.Ala346Gly) | |
12 | g.56004405C>T | CA6621081 | SUOX | c.1016C>T (p.Ala339Val) c.*204C>T (n.*204C>T) c.1037C>T (p.Ala346Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004406C>A | CA480366272 | SUOX | c.1017C>A (p.Ala339=) c.*205C>A (n.*205C>A) c.1038C>A (p.Ala346=) | |
12 | g.56004406C>G | CA480366273 | SUOX | c.1017C>G (p.Ala339=) c.*205C>G (n.*205C>G) c.1038C>G (p.Ala346=) | |
12 | g.56004406C>T | CA480366274 | SUOX | c.1017C>T (p.Ala339=) c.*205C>T (n.*205C>T) c.1038C>T (p.Ala346=) | ClinVar |
12 | g.56004407A= | CA2038197856 | SUOX | c.1018A= (p.Met340=) c.*206A= (n.*206A=) c.1039A= (p.Met347=) | |
12 | g.56004407A>C | CA385290401 | SUOX | c.1018A>C (p.Met340Leu) c.*206A>C (n.*206A>C) c.1039A>C (p.Met347Leu) | |
12 | g.56004407A>G | CA6621082 | SUOX | c.1018A>G (p.Met340Val) c.*206A>G (n.*206A>G) c.1039A>G (p.Met347Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004407A>T | CA385290405 | SUOX | c.1018A>T (p.Met340Leu) c.*206A>T (n.*206A>T) c.1039A>T (p.Met347Leu) | ClinVar dbSNP |
12 | g.56004408T>A | CA385290408 | SUOX | c.1019T>A (p.Met340Lys) c.*207T>A (n.*207T>A) c.1040T>A (p.Met347Lys) | |
12 | g.56004408T>C | CA385290410 | SUOX | c.1019T>C (p.Met340Thr) c.*207T>C (n.*207T>C) c.1040T>C (p.Met347Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004408T>G | CA385290412 | SUOX | c.1019T>G (p.Met340Arg) c.*207T>G (n.*207T>G) c.1040T>G (p.Met347Arg) | |
12 | g.56004408T= | CA2038197857 | SUOX | c.1019T= (p.Met340=) c.*207T= (n.*207T=) c.1040T= (p.Met347=) | |
12 | g.56004409G>A | CA385290414 | SUOX | c.1020G>A (p.Met340Ile) c.*208G>A (n.*208G>A) c.1041G>A (p.Met347Ile) | |
12 | g.56004409G>C | CA385290417 | SUOX | c.1020G>C (p.Met340Ile) c.*208G>C (n.*208G>C) c.1041G>C (p.Met347Ile) | |
12 | g.56004409G>T | CA385290419 | SUOX | c.1020G>T (p.Met340Ile) c.*208G>T (n.*208G>T) c.1041G>T (p.Met347Ile) | |
12 | g.56004410G>A | CA6621083 | SUOX | c.1021G>A (p.Asp341Asn) c.*209G>A (n.*209G>A) c.1042G>A (p.Asp348Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004410G>C | CA385290428 | SUOX | c.1021G>C (p.Asp341His) c.*209G>C (n.*209G>C) c.1042G>C (p.Asp348His) | |
12 | g.56004410G= | CA2038197858 | SUOX | c.1021G= (p.Asp341=) c.*209G= (n.*209G=) c.1042G= (p.Asp348=) | |
12 | g.56004410G>T | CA385290424 | SUOX | c.1021G>T (p.Asp341Tyr) c.*209G>T (n.*209G>T) c.1042G>T (p.Asp348Tyr) | |
12 | g.56004411A>C | CA385290432 | SUOX | c.1022A>C (p.Asp341Ala) c.*210A>C (n.*210A>C) c.1043A>C (p.Asp348Ala) | |
12 | g.56004411A>G | CA385290435 | SUOX | c.1022A>G (p.Asp341Gly) c.*210A>G (n.*210A>G) c.1043A>G (p.Asp348Gly) | |
12 | g.56004411A>T | CA385290437 | SUOX | c.1022A>T (p.Asp341Val) c.*210A>T (n.*210A>T) c.1043A>T (p.Asp348Val) | |
12 | g.56004412C>A | CA385290440 | SUOX | c.1023C>A (p.Asp341Glu) c.*211C>A (n.*211C>A) c.1044C>A (p.Asp348Glu) | |
12 | g.56004412C>G | CA385290442 | SUOX | c.1023C>G (p.Asp341Glu) c.*211C>G (n.*211C>G) c.1044C>G (p.Asp348Glu) | |
12 | g.56004412C>T | CA480366278 | SUOX | c.1023C>T (p.Asp341=) c.*211C>T (n.*211C>T) c.1044C>T (p.Asp348=) | |
12 | g.56004413C>A | CA385290452 | SUOX | c.1024C>A (p.Pro342Thr) c.*212C>A (n.*212C>A) c.1045C>A (p.Pro349Thr) | gnomAD v4 |
12 | g.56004413C>G | CA385290447 | SUOX | c.1024C>G (p.Pro342Ala) c.*212C>G (n.*212C>G) c.1045C>G (p.Pro349Ala) | gnomAD v4 |
12 | g.56004413C>T | CA385290450 | SUOX | c.1024C>T (p.Pro342Ser) c.*212C>T (n.*212C>T) c.1045C>T (p.Pro349Ser) | |
12 | g.56004414C>A | CA385290457 | SUOX | c.1025C>A (p.Pro342His) c.*213C>A (n.*213C>A) c.1046C>A (p.Pro349His) | |
12 | g.56004414C= | CA2038197859 | SUOX | c.1025C= (p.Pro342=) c.*213C= (n.*213C=) c.1046C= (p.Pro349=) | |
12 | g.56004414C>G | CA385290459 | SUOX | c.1025C>G (p.Pro342Arg) c.*213C>G (n.*213C>G) c.1046C>G (p.Pro349Arg) | |
12 | g.56004414C>T | CA385290462 | SUOX | c.1025C>T (p.Pro342Leu) c.*213C>T (n.*213C>T) c.1046C>T (p.Pro349Leu) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004415T>A | CA480366282 | SUOX | c.1026T>A (p.Pro342=) c.*214T>A (n.*214T>A) c.1047T>A (p.Pro349=) | |
12 | g.56004415T>C | CA480366283 | SUOX | c.1026T>C (p.Pro342=) c.*214T>C (n.*214T>C) c.1047T>C (p.Pro349=) | gnomAD v4 |
12 | g.56004415T>G | CA480366284 | SUOX | c.1026T>G (p.Pro342=) c.*214T>G (n.*214T>G) c.1047T>G (p.Pro349=) | |
12 | g.56004416G>A | CA385290466 | SUOX | c.1027G>A (p.Glu343Lys) c.*215G>A (n.*215G>A) c.1048G>A (p.Glu350Lys) | |
12 | g.56004416G>C | CA385290468 | SUOX | c.1027G>C (p.Glu343Gln) c.*215G>C (n.*215G>C) c.1048G>C (p.Glu350Gln) | |
12 | g.56004416G>T | CA385290471 | SUOX | c.1027G>T (p.Glu343Ter) c.*215G>T (n.*215G>T) c.1048G>T (p.Glu350Ter) | |
12 | g.56004417A>C | CA385290478 | SUOX | c.1028A>C (p.Glu343Ala) c.*216A>C (n.*216A>C) c.1049A>C (p.Glu350Ala) | |
12 | g.56004417A>G | CA385290481 | SUOX | c.1028A>G (p.Glu343Gly) c.*216A>G (n.*216A>G) c.1049A>G (p.Glu350Gly) | |
12 | g.56004417A>T | CA385290475 | SUOX | c.1028A>T (p.Glu343Val) c.*216A>T (n.*216A>T) c.1049A>T (p.Glu350Val) | |
12 | g.56004418A>C | CA385290484 | SUOX | c.1029A>C (p.Glu343Asp) c.*217A>C (n.*217A>C) c.1050A>C (p.Glu350Asp) | |
12 | g.56004418A>G | CA480366286 | SUOX | c.1029A>G (p.Glu343=) c.*217A>G (n.*217A>G) c.1050A>G (p.Glu350=) | |
12 | g.56004418A>T | CA385290487 | SUOX | c.1029A>T (p.Glu343Asp) c.*217A>T (n.*217A>T) c.1050A>T (p.Glu350Asp) | |
12 | g.56004419G>A | CA385290492 | SUOX | c.1030G>A (p.Ala344Thr) c.*218G>A (n.*218G>A) c.1051G>A (p.Ala351Thr) | dbSNP |
12 | g.56004419G>C | CA385290495 | SUOX | c.1030G>C (p.Ala344Pro) c.*218G>C (n.*218G>C) c.1051G>C (p.Ala351Pro) | |
12 | g.56004419G= | CA2038197860 | SUOX | c.1030G= (p.Ala344=) c.*218G= (n.*218G=) c.1051G= (p.Ala351=) | |
12 | g.56004419G>T | CA385290498 | SUOX | c.1030G>T (p.Ala344Ser) c.*218G>T (n.*218G>T) c.1051G>T (p.Ala351Ser) | |
12 | g.56004420C>A | CA385290500 | SUOX | c.1031C>A (p.Ala344Asp) c.*219C>A (n.*219C>A) c.1052C>A (p.Ala351Asp) | |
12 | g.56004420C= | CA2038197861 | SUOX | c.1031C= (p.Ala344=) c.*219C= (n.*219C=) c.1052C= (p.Ala351=) | |
12 | g.56004420C>G | CA385290501 | SUOX | c.1031C>G (p.Ala344Gly) c.*219C>G (n.*219C>G) c.1052C>G (p.Ala351Gly) | |
12 | g.56004420C>T | CA385290504 | SUOX | c.1031C>T (p.Ala344Val) c.*219C>T (n.*219C>T) c.1052C>T (p.Ala351Val) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004421T>A | CA480366287 | SUOX | c.1032T>A (p.Ala344=) c.*220T>A (n.*220T>A) c.1053T>A (p.Ala351=) | |
12 | g.56004421T>C | CA480366288 | SUOX | c.1032T>C (p.Ala344=) c.*220T>C (n.*220T>C) c.1053T>C (p.Ala351=) | ClinVar |
12 | g.56004421T>G | CA480366289 | SUOX | c.1032T>G (p.Ala344=) c.*220T>G (n.*220T>G) c.1053T>G (p.Ala351=) | ClinVar dbSNP |
12 | g.56004422G>A | CA385290506 | SUOX | c.1033G>A (p.Glu345Lys) c.*221G>A (n.*221G>A) c.1054G>A (p.Glu352Lys) | |
12 | g.56004422G>C | CA237605249 | SUOX | c.1033G>C (p.Glu345Gln) c.*221G>C (n.*221G>C) c.1054G>C (p.Glu352Gln) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004422G= | CA2038197862 | SUOX | c.1033G= (p.Glu345=) c.*221G= (n.*221G=) c.1054G= (p.Glu352=) | |
12 | g.56004422G>T | CA385290509 | SUOX | c.1033G>T (p.Glu345Ter) c.*221G>T (n.*221G>T) c.1054G>T (p.Glu352Ter) | |
12 | g.56004423A>C | CA385290511 | SUOX | c.1034A>C (p.Glu345Ala) c.*222A>C (n.*222A>C) c.1055A>C (p.Glu352Ala) | |
12 | g.56004423A>G | CA385290512 | SUOX | c.1034A>G (p.Glu345Gly) c.*222A>G (n.*222A>G) c.1055A>G (p.Glu352Gly) | |
12 | g.56004423A>T | CA385290514 | SUOX | c.1034A>T (p.Glu345Val) c.*222A>T (n.*222A>T) c.1055A>T (p.Glu352Val) | |
12 | g.56004424G>A | CA6621084 | SUOX | c.1035G>A (p.Glu345=) c.*223G>A (n.*223G>A) c.1056G>A (p.Glu352=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004424G>C | CA385290521 | SUOX | c.1035G>C (p.Glu345Asp) c.*223G>C (n.*223G>C) c.1056G>C (p.Glu352Asp) | |
12 | g.56004424G= | CA2038197863 | SUOX | c.1035G= (p.Glu345=) c.*223G= (n.*223G=) c.1056G= (p.Glu352=) | |
12 | g.56004424G>T | CA385290516 | SUOX | c.1035G>T (p.Glu345Asp) c.*223G>T (n.*223G>T) c.1056G>T (p.Glu352Asp) | |
12 | g.56004425G>A | CA385290523 | SUOX | c.1036G>A (p.Val346Ile) c.*224G>A (n.*224G>A) c.1057G>A (p.Val353Ile) | |
12 | g.56004425G>C | CA385290524 | SUOX | c.1036G>C (p.Val346Leu) c.*224G>C (n.*224G>C) c.1057G>C (p.Val353Leu) | |
12 | g.56004425G>T | CA385290529 | SUOX | c.1036G>T (p.Val346Phe) c.*224G>T (n.*224G>T) c.1057G>T (p.Val353Phe) | |
12 | g.56004426T>A | CA385290532 | SUOX | c.1037T>A (p.Val346Asp) c.*225T>A (n.*225T>A) c.1058T>A (p.Val353Asp) | |
12 | g.56004426T>C | CA385290535 | SUOX | c.1037T>C (p.Val346Ala) c.*225T>C (n.*225T>C) c.1058T>C (p.Val353Ala) | |
12 | g.56004426T>G | CA385290536 | SUOX | c.1037T>G (p.Val346Gly) c.*225T>G (n.*225T>G) c.1058T>G (p.Val353Gly) | |
12 | g.56004427C>A | CA480366290 | SUOX | c.1038C>A (p.Val346=) c.*226C>A (n.*226C>A) c.1059C>A (p.Val353=) | |
12 | g.56004427C>G | CA480366291 | SUOX | c.1038C>G (p.Val346=) c.*226C>G (n.*226C>G) c.1059C>G (p.Val353=) | |
12 | g.56004427C>T | CA480366292 | SUOX | c.1038C>T (p.Val346=) c.*226C>T (n.*226C>T) c.1059C>T (p.Val353=) | ClinVar dbSNP |
12 | g.56004428C>A | CA385290539 | SUOX | c.1039C>A (p.Leu347Met) c.*227C>A (n.*227C>A) c.1060C>A (p.Leu354Met) | |
12 | g.56004428C>G | CA385290541 | SUOX | c.1039C>G (p.Leu347Val) c.*227C>G (n.*227C>G) c.1060C>G (p.Leu354Val) | |
12 | g.56004428C>T | CA480366293 | SUOX | c.1039C>T (p.Leu347=) c.*227C>T (n.*227C>T) c.1060C>T (p.Leu354=) | |
12 | g.56004429T>A | CA385290543 | SUOX | c.1040T>A (p.Leu347Gln) c.*228T>A (n.*228T>A) c.1061T>A (p.Leu354Gln) | |
12 | g.56004429T>C | CA385290545 | SUOX | c.1040T>C (p.Leu347Pro) c.*228T>C (n.*228T>C) c.1061T>C (p.Leu354Pro) | ClinVar dbSNP |
12 | g.56004429T>G | CA385290548 | SUOX | c.1040T>G (p.Leu347Arg) c.*228T>G (n.*228T>G) c.1061T>G (p.Leu354Arg) | |
12 | g.56004429T= | CA2038197864 | SUOX | c.1040T= (p.Leu347=) c.*228T= (n.*228T=) c.1061T= (p.Leu354=) | |
12 | g.56004430G>A | CA480366296 | SUOX | c.1041G>A (p.Leu347=) c.*229G>A (n.*229G>A) c.1062G>A (p.Leu354=) | |
12 | g.56004430G>C | CA480366299 | SUOX | c.1041G>C (p.Leu347=) c.*229G>C (n.*229G>C) c.1062G>C (p.Leu354=) | |
12 | g.56004430G>T | CA480366298 | SUOX | c.1041G>T (p.Leu347=) c.*229G>T (n.*229G>T) c.1062G>T (p.Leu354=) | |
12 | g.56004431C>A | CA385290550 | SUOX | c.1042C>A (p.Leu348Met) c.*230C>A (n.*230C>A) c.1063C>A (p.Leu355Met) | |
12 | g.56004431C>G | CA385290553 | SUOX | c.1042C>G (p.Leu348Val) c.*230C>G (n.*230C>G) c.1063C>G (p.Leu355Val) | |
12 | g.56004431C>T | CA480366300 | SUOX | c.1042C>T (p.Leu348=) c.*230C>T (n.*230C>T) c.1063C>T (p.Leu355=) | |
12 | g.56004432T>A | CA385290563 | SUOX | c.1043T>A (p.Leu348Gln) c.*231T>A (n.*231T>A) c.1064T>A (p.Leu355Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004432T>C | CA385290566 | SUOX | c.1043T>C (p.Leu348Pro) c.*231T>C (n.*231T>C) c.1064T>C (p.Leu355Pro) | gnomAD v4 |
12 | g.56004432T>G | CA385290557 | SUOX | c.1043T>G (p.Leu348Arg) c.*231T>G (n.*231T>G) c.1064T>G (p.Leu355Arg) | |
12 | g.56004432T= | CA2038197865 | SUOX | c.1043T= (p.Leu348=) c.*231T= (n.*231T=) c.1064T= (p.Leu355=) | |
12 | g.56004433G>A | CA480366304 | SUOX | c.1044G>A (p.Leu348=) c.*232G>A (n.*232G>A) c.1065G>A (p.Leu355=) | ClinVar dbSNP |
12 | g.56004433G>C | CA480366305 | SUOX | c.1044G>C (p.Leu348=) c.*232G>C (n.*232G>C) c.1065G>C (p.Leu355=) | |
12 | g.56004433G>T | CA480366306 | SUOX | c.1044G>T (p.Leu348=) c.*232G>T (n.*232G>T) c.1065G>T (p.Leu355=) | gnomAD v4 |
12 | g.56004434G>A | CA385290570 | SUOX | c.1045G>A (p.Ala349Thr) c.*233G>A (n.*233G>A) c.1066G>A (p.Ala356Thr) | gnomAD v4 |
12 | g.56004434G>C | CA385290571 | SUOX | c.1045G>C (p.Ala349Pro) c.*233G>C (n.*233G>C) c.1066G>C (p.Ala356Pro) | |
12 | g.56004434G>T | CA385290574 | SUOX | c.1045G>T (p.Ala349Ser) c.*233G>T (n.*233G>T) c.1066G>T (p.Ala356Ser) | |
12 | g.56004435C>A | CA385290579 | SUOX | c.1046C>A (p.Ala349Glu) c.*234C>A (n.*234C>A) c.1067C>A (p.Ala356Glu) | |
12 | g.56004435C>G | CA385290582 | SUOX | c.1046C>G (p.Ala349Gly) c.*234C>G (n.*234C>G) c.1067C>G (p.Ala356Gly) | |
12 | g.56004435C>T | CA385290584 | SUOX | c.1046C>T (p.Ala349Val) c.*234C>T (n.*234C>T) c.1067C>T (p.Ala356Val) | |
12 | g.56004435_56004437delinsCAT | CA2038197866 | SUOX | c.1046_1048delinsCAT (p.Ala349=) c.*234_*236delinsCAT (n.*234_*236delinsCAT) c.1067_1069delinsCAT (p.Ala356=) | |
12 | g.56004436A= | CA2038197867 | SUOX | c.1047A= (p.Ala349=) c.*235A= (n.*235A=) c.1068A= (p.Ala356=) | |
12 | g.56004436A>C | CA480366310 | SUOX | c.1047A>C (p.Ala349=) c.*235A>C (n.*235A>C) c.1068A>C (p.Ala356=) | |
12 | g.56004436A>G | CA480366311 | SUOX | c.1047A>G (p.Ala349=) c.*235A>G (n.*235A>G) c.1068A>G (p.Ala356=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004436A>T | CA480366312 | SUOX | c.1047A>T (p.Ala349=) c.*235A>T (n.*235A>T) c.1068A>T (p.Ala356=) | |
12 | g.56004438_56004439del | CA605401135 | SUOX | c.1049_1050del (p.Tyr350Ter) c.*237_*238del (n.*237_*238del) c.1070_1071del (p.Tyr357Ter) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004437T>A | CA385290590 | SUOX | c.1048T>A (p.Tyr350Asn) c.*236T>A (n.*236T>A) c.1069T>A (p.Tyr357Asn) | |
12 | g.56004437T>C | CA6621085 | SUOX | c.1048T>C (p.Tyr350His) c.*236T>C (n.*236T>C) c.1069T>C (p.Tyr357His) | dbSNP ExAC gnomAD v4 |
12 | g.56004437T>G | CA385290592 | SUOX | c.1048T>G (p.Tyr350Asp) c.*236T>G (n.*236T>G) c.1069T>G (p.Tyr357Asp) | |
12 | g.56004437T= | CA2038197868 | SUOX | c.1048T= (p.Tyr350=) c.*236T= (n.*236T=) c.1069T= (p.Tyr357=) | |
12 | g.56004438A= | CA2038197869 | SUOX | c.1049A= (p.Tyr350=) c.*237A= (n.*237A=) c.1070A= (p.Tyr357=) | |
12 | g.56004438A>C | CA385290597 | SUOX | c.1049A>C (p.Tyr350Ser) c.*237A>C (n.*237A>C) c.1070A>C (p.Tyr357Ser) | |
12 | g.56004438A>G | CA385290600 | SUOX | c.1049A>G (p.Tyr350Cys) c.*237A>G (n.*237A>G) c.1070A>G (p.Tyr357Cys) | gnomAD v4 |
12 | g.56004438A>T | CA6621086 | SUOX | c.1049A>T (p.Tyr350Phe) c.*237A>T (n.*237A>T) c.1070A>T (p.Tyr357Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004438_56004441del | CA2575186108 | SUOX | c.1049_1052del (p.Tyr350Ter) c.*237_*240del (n.*237_*240del) c.1070_1073del (p.Tyr357Ter) | ClinVar gnomAD v4 |
12 | g.56004439T>A | CA385290616 | SUOX | c.1050T>A (p.Tyr350Ter) c.*238T>A (n.*238T>A) c.1071T>A (p.Tyr357Ter) | |
12 | g.56004439T>C | CA6621087 | SUOX | c.1050T>C (p.Tyr350=) c.*238T>C (n.*238T>C) c.1071T>C (p.Tyr357=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004439T>G | CA385290612 | SUOX | c.1050T>G (p.Tyr350Ter) c.*238T>G (n.*238T>G) c.1071T>G (p.Tyr357Ter) | gnomAD v4 |
12 | g.56004439T= | CA2038197870 | SUOX | c.1050T= (p.Tyr350=) c.*238T= (n.*238T=) c.1071T= (p.Tyr357=) | |
12 | g.56004440G>A | CA385290621 | SUOX | c.1051G>A (p.Glu351Lys) c.*239G>A (n.*239G>A) c.1072G>A (p.Glu358Lys) | gnomAD v4 |
12 | g.56004440G>C | CA385290625 | SUOX | c.1051G>C (p.Glu351Gln) c.*239G>C (n.*239G>C) c.1072G>C (p.Glu358Gln) | |
12 | g.56004440G>T | CA385290629 | SUOX | c.1051G>T (p.Glu351Ter) c.*239G>T (n.*239G>T) c.1072G>T (p.Glu358Ter) | |
12 | g.56004441A>C | CA385290636 | SUOX | c.1052A>C (p.Glu351Ala) c.*240A>C (n.*240A>C) c.1073A>C (p.Glu358Ala) | |
12 | g.56004441A>G | CA385290638 | SUOX | c.1052A>G (p.Glu351Gly) c.*240A>G (n.*240A>G) c.1073A>G (p.Glu358Gly) | |
12 | g.56004441A>T | CA385290641 | SUOX | c.1052A>T (p.Glu351Val) c.*240A>T (n.*240A>T) c.1073A>T (p.Glu358Val) | |
12 | g.56004442G>A | CA480366320 | SUOX | c.1053G>A (p.Glu351=) c.*241G>A (n.*241G>A) c.1074G>A (p.Glu358=) | gnomAD v4 |
12 | g.56004442G>C | CA385290645 | SUOX | c.1053G>C (p.Glu351Asp) c.*241G>C (n.*241G>C) c.1074G>C (p.Glu358Asp) | |
12 | g.56004442G= | CA2038197871 | SUOX | c.1053G= (p.Glu351=) c.*241G= (n.*241G=) c.1074G= (p.Glu358=) | |
12 | g.56004442G>T | CA385290649 | SUOX | c.1053G>T (p.Glu351Asp) c.*241G>T (n.*241G>T) c.1074G>T (p.Glu358Asp) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.56004443A>C | CA385290654 | SUOX | c.1054A>C (p.Met352Leu) c.*242A>C (n.*242A>C) c.1075A>C (p.Met359Leu) | |
12 | g.56004443A>G | CA385290658 | SUOX | c.1054A>G (p.Met352Val) c.*242A>G (n.*242A>G) c.1075A>G (p.Met359Val) | |
12 | g.56004443A>T | CA385290660 | SUOX | c.1054A>T (p.Met352Leu) c.*242A>T (n.*242A>T) c.1075A>T (p.Met359Leu) | |
12 | g.56004444T>A | CA385290670 | SUOX | c.1055T>A (p.Met352Lys) c.*243T>A (n.*243T>A) c.1076T>A (p.Met359Lys) | |
12 | g.56004444T>C | CA385290674 | SUOX | c.1055T>C (p.Met352Thr) c.*243T>C (n.*243T>C) c.1076T>C (p.Met359Thr) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.56004444T>G | CA385290666 | SUOX | c.1055T>G (p.Met352Arg) c.*243T>G (n.*243T>G) c.1076T>G (p.Met359Arg) | |
12 | g.56004444T= | CA2038197872 | SUOX | c.1055T= (p.Met352=) c.*243T= (n.*243T=) c.1076T= (p.Met359=) | |
12 | g.56004445G>A | CA6621089 | SUOX | c.1056G>A (p.Met352Ile) c.*244G>A (n.*244G>A) c.1077G>A (p.Met359Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004445G>C | CA6621088 | SUOX | c.1056G>C (p.Met352Ile) c.*244G>C (n.*244G>C) c.1077G>C (p.Met359Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004445G= | CA2038197873 | SUOX | c.1056G= (p.Met352=) c.*244G= (n.*244G=) c.1077G= (p.Met359=) | |
12 | g.56004445G>T | CA385290685 | SUOX | c.1056G>T (p.Met352Ile) c.*244G>T (n.*244G>T) c.1077G>T (p.Met359Ile) | |
12 | g.56004446A>C | CA385290692 | SUOX | c.1057A>C (p.Asn353His) c.*245A>C (n.*245A>C) c.1078A>C (p.Asn360His) | |
12 | g.56004446A>G | CA385290696 | SUOX | c.1057A>G (p.Asn353Asp) c.*245A>G (n.*245A>G) c.1078A>G (p.Asn360Asp) | |
12 | g.56004446A>T | CA385290699 | SUOX | c.1057A>T (p.Asn353Tyr) c.*245A>T (n.*245A>T) c.1078A>T (p.Asn360Tyr) | |
12 | g.56004447A= | CA2038197874 | SUOX | c.1058A= (p.Asn353=) c.*246A= (n.*246A=) c.1079A= (p.Asn360=) | |
12 | g.56004447A>C | CA385290704 | SUOX | c.1058A>C (p.Asn353Thr) c.*246A>C (n.*246A>C) c.1079A>C (p.Asn360Thr) | |
12 | g.56004447A>G | CA6621090 | SUOX | c.1058A>G (p.Asn353Ser) c.*246A>G (n.*246A>G) c.1079A>G (p.Asn360Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004447A>T | CA385290709 | SUOX | c.1058A>T (p.Asn353Ile) c.*246A>T (n.*246A>T) c.1079A>T (p.Asn360Ile) | |
12 | g.56004448T>A | CA385290714 | SUOX | c.1059T>A (p.Asn353Lys) c.*247T>A (n.*247T>A) c.1080T>A (p.Asn360Lys) | |
12 | g.56004448T>C | CA480366330 | SUOX | c.1059T>C (p.Asn353=) c.*247T>C (n.*247T>C) c.1080T>C (p.Asn360=) | |
12 | g.56004448T>G | CA385290716 | SUOX | c.1059T>G (p.Asn353Lys) c.*247T>G (n.*247T>G) c.1080T>G (p.Asn360Lys) | |
12 | g.56004449G>A | CA385290721 | SUOX | c.1060G>A (p.Gly354Arg) c.*248G>A (n.*248G>A) c.1081G>A (p.Gly361Arg) | |
12 | g.56004449G>C | CA385290725 | SUOX | c.1060G>C (p.Gly354Arg) c.*248G>C (n.*248G>C) c.1081G>C (p.Gly361Arg) | |
12 | g.56004449G>T | CA385290728 | SUOX | c.1060G>T (p.Gly354Trp) c.*248G>T (n.*248G>T) c.1081G>T (p.Gly361Trp) | |
12 | g.56004450G>A | CA385290731 | SUOX | c.1061G>A (p.Gly354Glu) c.*249G>A (n.*249G>A) c.1082G>A (p.Gly361Glu) | gnomAD v4 |
12 | g.56004450G>C | CA385290737 | SUOX | c.1061G>C (p.Gly354Ala) c.*249G>C (n.*249G>C) c.1082G>C (p.Gly361Ala) | |
12 | g.56004450G>T | CA385290734 | SUOX | c.1061G>T (p.Gly354Val) c.*249G>T (n.*249G>T) c.1082G>T (p.Gly361Val) | |
12 | g.56004451G>A | CA480366332 | SUOX | c.1062G>A (p.Gly354=) c.*250G>A (n.*250G>A) c.1083G>A (p.Gly361=) | gnomAD v4 |
12 | g.56004451G>C | CA480366334 | SUOX | c.1062G>C (p.Gly354=) c.*250G>C (n.*250G>C) c.1083G>C (p.Gly361=) | |
12 | g.56004451G>T | CA480366333 | SUOX | c.1062G>T (p.Gly354=) c.*250G>T (n.*250G>T) c.1083G>T (p.Gly361=) | |
12 | g.56004452C>A | CA385290741 | SUOX | c.1063C>A (p.Gln355Lys) c.*251C>A (n.*251C>A) c.1084C>A (p.Gln362Lys) | |
12 | g.56004452C>G | CA385290744 | SUOX | c.1063C>G (p.Gln355Glu) c.*251C>G (n.*251C>G) c.1084C>G (p.Gln362Glu) | |
12 | g.56004452C>T | CA385290747 | SUOX | c.1063C>T (p.Gln355Ter) c.*251C>T (n.*251C>T) c.1084C>T (p.Gln362Ter) | gnomAD v4 |
12 | g.56004453A>C | CA385290751 | SUOX | c.1064A>C (p.Gln355Pro) c.*252A>C (n.*252A>C) c.1085A>C (p.Gln362Pro) | |
12 | g.56004453A>G | CA385290754 | SUOX | c.1064A>G (p.Gln355Arg) c.*252A>G (n.*252A>G) c.1085A>G (p.Gln362Arg) | |
12 | g.56004453A>T | CA385290756 | SUOX | c.1064A>T (p.Gln355Leu) c.*252A>T (n.*252A>T) c.1085A>T (p.Gln362Leu) | |
12 | g.56004454G>A | CA480366340 | SUOX | c.1065G>A (p.Gln355=) c.*253G>A (n.*253G>A) c.1086G>A (p.Gln362=) | |
12 | g.56004454G>C | CA385290757 | SUOX | c.1065G>C (p.Gln355His) c.*253G>C (n.*253G>C) c.1086G>C (p.Gln362His) | |
12 | g.56004454G>T | CA385290761 | SUOX | c.1065G>T (p.Gln355His) c.*253G>T (n.*253G>T) c.1086G>T (p.Gln362His) | |
12 | g.56004455C>A | CA385290766 | SUOX | c.1066C>A (p.Pro356Thr) c.*254C>A (n.*254C>A) c.1087C>A (p.Pro363Thr) | |
12 | g.56004455C>G | CA385290768 | SUOX | c.1066C>G (p.Pro356Ala) c.*254C>G (n.*254C>G) c.1087C>G (p.Pro363Ala) | |
12 | g.56004455C>T | CA385290773 | SUOX | c.1066C>T (p.Pro356Ser) c.*254C>T (n.*254C>T) c.1087C>T (p.Pro363Ser) | |
12 | g.56004456C>A | CA385290782 | SUOX | c.1067C>A (p.Pro356His) c.*255C>A (n.*255C>A) c.1088C>A (p.Pro363His) | COSMIC |
12 | g.56004456C>G | CA385290785 | SUOX | c.1067C>G (p.Pro356Arg) c.*255C>G (n.*255C>G) c.1088C>G (p.Pro363Arg) | |
12 | g.56004456C>T | CA385290779 | SUOX | c.1067C>T (p.Pro356Leu) c.*255C>T (n.*255C>T) c.1088C>T (p.Pro363Leu) | |
12 | g.56004457T>A | CA480366344 | SUOX | c.1068T>A (p.Pro356=) c.*256T>A (n.*256T>A) c.1089T>A (p.Pro363=) | |
12 | g.56004457T>C | CA480366346 | SUOX | c.1068T>C (p.Pro356=) c.*256T>C (n.*256T>C) c.1089T>C (p.Pro363=) | |
12 | g.56004457T>G | CA480366347 | SUOX | c.1068T>G (p.Pro356=) c.*256T>G (n.*256T>G) c.1089T>G (p.Pro363=) | |
12 | g.56004458C>A | CA385290792 | SUOX | c.1069C>A (p.Leu357Met) c.*257C>A (n.*257C>A) c.1090C>A (p.Leu364Met) | |
12 | g.56004458C= | CA2038197875 | SUOX | c.1069C= (p.Leu357=) c.*257C= (n.*257C=) c.1090C= (p.Leu364=) | |
12 | g.56004458C>G | CA385290796 | SUOX | c.1069C>G (p.Leu357Val) c.*257C>G (n.*257C>G) c.1090C>G (p.Leu364Val) | |
12 | g.56004458C>T | CA237605254 | SUOX | c.1069C>T (p.Leu357=) c.*257C>T (n.*257C>T) c.1090C>T (p.Leu364=) | dbSNP |
12 | g.56004459T>A | CA385290804 | SUOX | c.1070T>A (p.Leu357Gln) c.*258T>A (n.*258T>A) c.1091T>A (p.Leu364Gln) | |
12 | g.56004459T>C | CA385290807 | SUOX | c.1070T>C (p.Leu357Pro) c.*258T>C (n.*258T>C) c.1091T>C (p.Leu364Pro) | |
12 | g.56004459T>G | CA385290809 | SUOX | c.1070T>G (p.Leu357Arg) c.*258T>G (n.*258T>G) c.1091T>G (p.Leu364Arg) | dbSNP |
12 | g.56004459T= | CA2038197876 | SUOX | c.1070T= (p.Leu357=) c.*258T= (n.*258T=) c.1091T= (p.Leu364=) | |
12 | g.56004459_56004460delinsTG | CA2038197877 | SUOX | c.1070_1071delinsTG (p.Leu357=) c.*258_*259delinsTG (n.*258_*259delinsTG) c.1091_1092delinsTG (p.Leu364=) | |
12 | g.56004460del | CA2038197878 | SUOX | c.1071del (p.Pro358HisfsTer27) c.*259del (n.*259del) c.1092del (p.Pro365HisfsTer27) | ClinVar dbSNP |
12 | g.56004460G>A | CA480366350 | SUOX | c.1071G>A (p.Leu357=) c.*259G>A (n.*259G>A) c.1092G>A (p.Leu364=) | |
12 | g.56004460G>C | CA480366352 | SUOX | c.1071G>C (p.Leu357=) c.*259G>C (n.*259G>C) c.1092G>C (p.Leu364=) | |
12 | g.56004460G>T | CA480366353 | SUOX | c.1071G>T (p.Leu357=) c.*259G>T (n.*259G>T) c.1092G>T (p.Leu364=) | |
12 | g.56004461C>A | CA385290814 | SUOX | c.1072C>A (p.Pro358Thr) c.*260C>A (n.*260C>A) c.1093C>A (p.Pro365Thr) | |
12 | g.56004461C>G | CA385290817 | SUOX | c.1072C>G (p.Pro358Ala) c.*260C>G (n.*260C>G) c.1093C>G (p.Pro365Ala) | |
12 | g.56004461C>T | CA385290819 | SUOX | c.1072C>T (p.Pro358Ser) c.*260C>T (n.*260C>T) c.1093C>T (p.Pro365Ser) | gnomAD v4 |
12 | g.56004462C>A | CA385290825 | SUOX | c.1073C>A (p.Pro358Gln) c.*261C>A (n.*261C>A) c.1094C>A (p.Pro365Gln) | |
12 | g.56004462C= | CA2038197879 | SUOX | c.1073C= (p.Pro358=) c.*261C= (n.*261C=) c.1094C= (p.Pro365=) | |
12 | g.56004462C>G | CA385290828 | SUOX | c.1073C>G (p.Pro358Arg) c.*261C>G (n.*261C>G) c.1094C>G (p.Pro365Arg) | |
12 | g.56004462C>T | CA6621091 | SUOX | c.1073C>T (p.Pro358Leu) c.*261C>T (n.*261C>T) c.1094C>T (p.Pro365Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.56004463A>C | CA480366356 | SUOX | c.1074A>C (p.Pro358=) c.*262A>C (n.*262A>C) c.1095A>C (p.Pro365=) | |
12 | g.56004463A>G | CA480366358 | SUOX | c.1074A>G (p.Pro358=) c.*262A>G (n.*262A>G) c.1095A>G (p.Pro365=) | |
12 | g.56004463A>T | CA480366359 | SUOX | c.1074A>T (p.Pro358=) c.*262A>T (n.*262A>T) c.1095A>T (p.Pro365=) | |
12 | g.56004464C>A | CA385290838 | SUOX | c.1075C>A (p.Arg359Ser) c.*263C>A (n.*263C>A) c.1096C>A (p.Arg366Ser) | |
12 | g.56004464C= | CA2038197880 | SUOX | c.1075C= (p.Arg359=) c.*263C= (n.*263C=) c.1096C= (p.Arg366=) | |
12 | g.56004464C>G | CA385290841 | SUOX | c.1075C>G (p.Arg359Gly) c.*263C>G (n.*263C>G) c.1096C>G (p.Arg366Gly) | |
12 | g.56004464C>T | CA385290836 | SUOX | c.1075C>T (p.Arg359Cys) c.*263C>T (n.*263C>T) c.1096C>T (p.Arg366Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.56004465G>A | CA6621092 | SUOX | c.1076G>A (p.Arg359His) c.*264G>A (n.*264G>A) c.1097G>A (p.Arg366His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.56004465G>C | CA385290848 | SUOX | c.1076G>C (p.Arg359Pro) c.*264G>C (n.*264G>C) c.1097G>C (p.Arg366Pro) | |
12 | g.56004465G= | CA2038197881 | SUOX | c.1076G= (p.Arg359=) c.*264G= (n.*264G=) c.1097G= (p.Arg366=) | |
12 | g.56004465G>T | CA385290851 | SUOX | c.1076G>T (p.Arg359Leu) c.*264G>T (n.*264G>T) c.1097G>T (p.Arg366Leu) | |
12 | g.56004466T>A | CA480366361 | SUOX | c.1077T>A (p.Arg359=) c.*265T>A (n.*265T>A) c.1098T>A (p.Arg366=) | |
12 | g.56004466T>C | CA480366362 | SUOX | c.1077T>C (p.Arg359=) c.*265T>C (n.*265T>C) c.1098T>C (p.Arg366=) | |
12 | g.56004466T>G | CA480366363 | SUOX | c.1077T>G (p.Arg359=) c.*265T>G (n.*265T>G) c.1098T>G (p.Arg366=) | |
12 | g.56004467G>A | CA385290854 | SUOX | c.1078G>A (p.Asp360Asn) c.*266G>A (n.*266G>A) c.1099G>A (p.Asp367Asn) | |
12 | g.56004467G>C | CA385290856 | SUOX | c.1078G>C (p.Asp360His) c.*266G>C (n.*266G>C) c.1099G>C (p.Asp367His) | |
12 | g.56004467G>T | CA385290860 | SUOX | c.1078G>T (p.Asp360Tyr) c.*266G>T (n.*266G>T) c.1099G>T (p.Asp367Tyr) | |
12 | g.56004468A= | CA2038197882 | SUOX | c.1079A= (p.Asp360=) c.*267A= (n.*267A=) c.1100A= (p.Asp367=) | |
12 | g.56004468A>C | CA385290870 | SUOX | c.1079A>C (p.Asp360Ala) c.*267A>C (n.*267A>C) c.1100A>C (p.Asp367Ala) | dbSNP |
12 | g.56004468A>G | CA385290866 | SUOX | c.1079A>G (p.Asp360Gly) c.*267A>G (n.*267A>G) c.1100A>G (p.Asp367Gly) | |
12 | g.56004468A>T | CA385290867 | SUOX | c.1079A>T (p.Asp360Val) c.*267A>T (n.*267A>T) c.1100A>T (p.Asp367Val) | |
12 | g.56004469C>A | CA385290872 | SUOX | c.1080C>A (p.Asp360Glu) c.*268C>A (n.*268C>A) c.1101C>A (p.Asp367Glu) | |
12 | g.56004469C>G | CA385290876 | SUOX | c.1080C>G (p.Asp360Glu) c.*268C>G (n.*268C>G) c.1101C>G (p.Asp367Glu) | |
12 | g.56004469C>T | CA480366366 | SUOX | c.1080C>T (p.Asp360=) c.*268C>T (n.*268C>T) c.1101C>T (p.Asp367=) | |
12 | g.56004470C>A | CA385290880 | SUOX | c.1081C>A (p.His361Asn) c.*269C>A (n.*269C>A) c.1102C>A (p.His368Asn) | |
12 | g.56004470C= | CA2038197883 | SUOX | c.1081C= (p.His361=) c.*269C= (n.*269C=) c.1102C= (p.His368=) | |
12 | g.56004470C>G | CA385290883 | SUOX | c.1081C>G (p.His361Asp) c.*269C>G (n.*269C>G) c.1102C>G (p.His368Asp) | |
12 | g.56004470C>T | CA237605256 | SUOX | c.1081C>T (p.His361Tyr) c.*269C>T (n.*269C>T) c.1102C>T (p.His368Tyr) | dbSNP gnomAD v4 |
12 | g.56004471A>C | CA385290890 | SUOX | c.1082A>C (p.His361Pro) c.*270A>C (n.*270A>C) c.1103A>C (p.His368Pro) | |
12 | g.56004471A>G | CA385290896 | SUOX | c.1082A>G (p.His361Arg) c.*270A>G (n.*270A>G) c.1103A>G (p.His368Arg) | |
12 | g.56004471A>T | CA385290894 | SUOX | c.1082A>T (p.His361Leu) c.*270A>T (n.*270A>T) c.1103A>T (p.His368Leu) |