Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.8325866T>A | CA338162275 | SLC45A1 | c.539T>A (p.Ile180Asn) c.641T>A (p.Ile214Asn) c.548T>A (p.Ile183Asn) c.-68T>A (n.-68T>A) c.446T>A (p.Ile149Asn) | |
1 | g.8325866T>C | CA338162276 | SLC45A1 | c.539T>C (p.Ile180Thr) c.641T>C (p.Ile214Thr) c.548T>C (p.Ile183Thr) c.-68T>C (n.-68T>C) c.446T>C (p.Ile149Thr) | |
1 | g.8325866T>G | CA338162278 | SLC45A1 | c.539T>G (p.Ile180Ser) c.641T>G (p.Ile214Ser) c.548T>G (p.Ile183Ser) c.-68T>G (n.-68T>G) c.446T>G (p.Ile149Ser) | |
1 | g.8325867C>A | CA415835702 | SLC45A1 | c.540C>A (p.Ile180=) c.642C>A (p.Ile214=) c.549C>A (p.Ile183=) c.-67C>A (n.-67C>A) c.447C>A (p.Ile149=) | |
1 | g.8325867C= | CA1152270526 | SLC45A1 | c.540C= (p.Ile180=) c.642C= (p.Ile214=) c.549C= (p.Ile183=) c.-67C= (n.-67C=) c.447C= (p.Ile149=) | |
1 | g.8325867C>G | CA338162279 | SLC45A1 | c.540C>G (p.Ile180Met) c.642C>G (p.Ile214Met) c.549C>G (p.Ile183Met) c.-67C>G (n.-67C>G) c.447C>G (p.Ile149Met) | |
1 | g.8325867C>T | CA415835703 | SLC45A1 | c.540C>T (p.Ile180=) c.642C>T (p.Ile214=) c.549C>T (p.Ile183=) c.-67C>T (n.-67C>T) c.447C>T (p.Ile149=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.8325868G>A | CA17659989 | SLC45A1 | c.541G>A (p.Ala181Thr) c.643G>A (p.Ala215Thr) c.550G>A (p.Ala184Thr) c.-66G>A (n.-66G>A) c.448G>A (p.Ala150Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.8325868G>C | CA338162283 | SLC45A1 | c.541G>C (p.Ala181Pro) c.643G>C (p.Ala215Pro) c.550G>C (p.Ala184Pro) c.-66G>C (n.-66G>C) c.448G>C (p.Ala150Pro) | |
1 | g.8325868G= | CA1152270529 | SLC45A1 | c.541G= (p.Ala181=) c.643G= (p.Ala215=) c.550G= (p.Ala184=) c.-66G= (n.-66G=) c.448G= (p.Ala150=) | |
1 | g.8325868G>T | CA338162284 | SLC45A1 | c.541G>T (p.Ala181Ser) c.643G>T (p.Ala215Ser) c.550G>T (p.Ala184Ser) c.-66G>T (n.-66G>T) c.448G>T (p.Ala150Ser) | ClinVar |
1 | g.8325869C>A | CA338162288 | SLC45A1 | c.542C>A (p.Ala181Asp) c.644C>A (p.Ala215Asp) c.551C>A (p.Ala184Asp) c.-65C>A (n.-65C>A) c.449C>A (p.Ala150Asp) | |
1 | g.8325869C= | CA1152270531 | SLC45A1 | c.542C= (p.Ala181=) c.644C= (p.Ala215=) c.551C= (p.Ala184=) c.-65C= (n.-65C=) c.449C= (p.Ala150=) | |
1 | g.8325869C>G | CA338162287 | SLC45A1 | c.542C>G (p.Ala181Gly) c.644C>G (p.Ala215Gly) c.551C>G (p.Ala184Gly) c.-65C>G (n.-65C>G) c.449C>G (p.Ala150Gly) | |
1 | g.8325869C>T | CA17659991 | SLC45A1 | c.542C>T (p.Ala181Val) c.644C>T (p.Ala215Val) c.551C>T (p.Ala184Val) c.-65C>T (n.-65C>T) c.449C>T (p.Ala150Val) | dbSNP gnomAD v4 |
1 | g.8325871del | CA2838862624 | SLC45A1 | c.544del (p.Leu182TrpfsTer4) c.646del (p.Leu216TrpfsTer4) c.553del (p.Leu185TrpfsTer4) c.-63del (n.-63del) c.451del (p.Leu151TrpfsTer4) | |
1 | g.8325870C>A | CA415835705 | SLC45A1 | c.543C>A (p.Ala181=) c.645C>A (p.Ala215=) c.552C>A (p.Ala184=) c.-64C>A (n.-64C>A) c.450C>A (p.Ala150=) | |
1 | g.8325870C>G | CA415835707 | SLC45A1 | c.543C>G (p.Ala181=) c.645C>G (p.Ala215=) c.552C>G (p.Ala184=) c.-64C>G (n.-64C>G) c.450C>G (p.Ala150=) | |
1 | g.8325870C>T | CA415835709 | SLC45A1 | c.543C>T (p.Ala181=) c.645C>T (p.Ala215=) c.552C>T (p.Ala184=) c.-64C>T (n.-64C>T) c.450C>T (p.Ala150=) | |
1 | g.8325871C>A | CA338162290 | SLC45A1 | c.544C>A (p.Leu182Met) c.646C>A (p.Leu216Met) c.553C>A (p.Leu185Met) c.-63C>A (n.-63C>A) c.451C>A (p.Leu151Met) | |
1 | g.8325871C>G | CA338162292 | SLC45A1 | c.544C>G (p.Leu182Val) c.646C>G (p.Leu216Val) c.553C>G (p.Leu185Val) c.-63C>G (n.-63C>G) c.451C>G (p.Leu151Val) | |
1 | g.8325871C>T | CA415835710 | SLC45A1 | c.544C>T (p.Leu182=) c.646C>T (p.Leu216=) c.553C>T (p.Leu185=) c.-63C>T (n.-63C>T) c.451C>T (p.Leu151=) | |
1 | g.8325872T>A | CA338162293 | SLC45A1 | c.545T>A (p.Leu182Gln) c.647T>A (p.Leu216Gln) c.554T>A (p.Leu185Gln) c.-62T>A (n.-62T>A) c.452T>A (p.Leu151Gln) | |
1 | g.8325872T>C | CA570125 | SLC45A1 | c.545T>C (p.Leu182Pro) c.647T>C (p.Leu216Pro) c.554T>C (p.Leu185Pro) c.-62T>C (n.-62T>C) c.452T>C (p.Leu151Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325872T>G | CA338162294 | SLC45A1 | c.545T>G (p.Leu182Arg) c.647T>G (p.Leu216Arg) c.554T>G (p.Leu185Arg) c.-62T>G (n.-62T>G) c.452T>G (p.Leu151Arg) | |
1 | g.8325872T= | CA1152270534 | SLC45A1 | c.545T= (p.Leu182=) c.647T= (p.Leu216=) c.554T= (p.Leu185=) c.-62T= (n.-62T=) c.452T= (p.Leu151=) | |
1 | g.8325873G>A | CA415835711 | SLC45A1 | c.546G>A (p.Leu182=) c.648G>A (p.Leu216=) c.555G>A (p.Leu185=) c.-61G>A (n.-61G>A) c.453G>A (p.Leu151=) | |
1 | g.8325873G>C | CA415835712 | SLC45A1 | c.546G>C (p.Leu182=) c.648G>C (p.Leu216=) c.555G>C (p.Leu185=) c.-61G>C (n.-61G>C) c.453G>C (p.Leu151=) | gnomAD v4 |
1 | g.8325873G>T | CA415835713 | SLC45A1 | c.546G>T (p.Leu182=) c.648G>T (p.Leu216=) c.555G>T (p.Leu185=) c.-61G>T (n.-61G>T) c.453G>T (p.Leu151=) | |
1 | g.8325874G>A | CA338162300 | SLC45A1 | c.547G>A (p.Ala183Thr) c.649G>A (p.Ala217Thr) c.556G>A (p.Ala186Thr) c.-60G>A (n.-60G>A) c.454G>A (p.Ala152Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325874G>C | CA338162299 | SLC45A1 | c.547G>C (p.Ala183Pro) c.649G>C (p.Ala217Pro) c.556G>C (p.Ala186Pro) c.-60G>C (n.-60G>C) c.454G>C (p.Ala152Pro) | COSMIC |
1 | g.8325874G= | CA1152270539 | SLC45A1 | c.547G= (p.Ala183=) c.649G= (p.Ala217=) c.556G= (p.Ala186=) c.-60G= (n.-60G=) c.454G= (p.Ala152=) | |
1 | g.8325874G>T | CA338162297 | SLC45A1 | c.547G>T (p.Ala183Ser) c.649G>T (p.Ala217Ser) c.556G>T (p.Ala186Ser) c.-60G>T (n.-60G>T) c.454G>T (p.Ala152Ser) | |
1 | g.8325875C>A | CA338162302 | SLC45A1 | c.548C>A (p.Ala183Asp) c.650C>A (p.Ala217Asp) c.557C>A (p.Ala186Asp) c.-59C>A (n.-59C>A) c.455C>A (p.Ala152Asp) | |
1 | g.8325875C>G | CA338162304 | SLC45A1 | c.548C>G (p.Ala183Gly) c.650C>G (p.Ala217Gly) c.557C>G (p.Ala186Gly) c.-59C>G (n.-59C>G) c.455C>G (p.Ala152Gly) | |
1 | g.8325875C>T | CA338162305 | SLC45A1 | c.548C>T (p.Ala183Val) c.650C>T (p.Ala217Val) c.557C>T (p.Ala186Val) c.-59C>T (n.-59C>T) c.455C>T (p.Ala152Val) | |
1 | g.8325876T>A | CA415835715 | SLC45A1 | c.549T>A (p.Ala183=) c.651T>A (p.Ala217=) c.558T>A (p.Ala186=) c.-58T>A (n.-58T>A) c.456T>A (p.Ala152=) | |
1 | g.8325876T>C | CA415835716 | SLC45A1 | c.549T>C (p.Ala183=) c.651T>C (p.Ala217=) c.558T>C (p.Ala186=) c.-58T>C (n.-58T>C) c.456T>C (p.Ala152=) | |
1 | g.8325876T>G | CA415835717 | SLC45A1 | c.549T>G (p.Ala183=) c.651T>G (p.Ala217=) c.558T>G (p.Ala186=) c.-58T>G (n.-58T>G) c.456T>G (p.Ala152=) | |
1 | g.8325877G>A | CA570126 | SLC45A1 | c.550G>A (p.Asp184Asn) c.652G>A (p.Asp218Asn) c.559G>A (p.Asp187Asn) c.-57G>A (n.-57G>A) c.457G>A (p.Asp153Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325877G>C | CA338162308 | SLC45A1 | c.550G>C (p.Asp184His) c.652G>C (p.Asp218His) c.559G>C (p.Asp187His) c.-57G>C (n.-57G>C) c.457G>C (p.Asp153His) | |
1 | g.8325877G= | CA1147899101 | SLC45A1 | c.550G= (p.Asp184=) c.652G= (p.Asp218=) c.559G= (p.Asp187=) c.-57G= (n.-57G=) c.457G= (p.Asp153=) | |
1 | g.8325877G>T | CA338162310 | SLC45A1 | c.550G>T (p.Asp184Tyr) c.652G>T (p.Asp218Tyr) c.559G>T (p.Asp187Tyr) c.-57G>T (n.-57G>T) c.457G>T (p.Asp153Tyr) | dbSNP |
1 | g.8325878A>C | CA338162313 | SLC45A1 | c.551A>C (p.Asp184Ala) c.653A>C (p.Asp218Ala) c.560A>C (p.Asp187Ala) c.-56A>C (n.-56A>C) c.458A>C (p.Asp153Ala) | |
1 | g.8325878A>G | CA338162316 | SLC45A1 | c.551A>G (p.Asp184Gly) c.653A>G (p.Asp218Gly) c.560A>G (p.Asp187Gly) c.-56A>G (n.-56A>G) c.458A>G (p.Asp153Gly) | |
1 | g.8325878A>T | CA338162314 | SLC45A1 | c.551A>T (p.Asp184Val) c.653A>T (p.Asp218Val) c.560A>T (p.Asp187Val) c.-56A>T (n.-56A>T) c.458A>T (p.Asp153Val) | |
1 | g.8325879C>A | CA338162317 | SLC45A1 | c.552C>A (p.Asp184Glu) c.654C>A (p.Asp218Glu) c.561C>A (p.Asp187Glu) c.-55C>A (n.-55C>A) c.459C>A (p.Asp153Glu) | |
1 | g.8325879C= | CA1152270544 | SLC45A1 | c.552C= (p.Asp184=) c.654C= (p.Asp218=) c.561C= (p.Asp187=) c.-55C= (n.-55C=) c.459C= (p.Asp153=) | |
1 | g.8325879C>G | CA338162319 | SLC45A1 | c.552C>G (p.Asp184Glu) c.654C>G (p.Asp218Glu) c.561C>G (p.Asp187Glu) c.-55C>G (n.-55C>G) c.459C>G (p.Asp153Glu) | |
1 | g.8325879C>T | CA17659995 | SLC45A1 | c.552C>T (p.Asp184=) c.654C>T (p.Asp218=) c.561C>T (p.Asp187=) c.-55C>T (n.-55C>T) c.459C>T (p.Asp153=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325880G>A | CA570127 | SLC45A1 | c.553G>A (p.Val185Met) c.655G>A (p.Val219Met) c.562G>A (p.Val188Met) c.-54G>A (n.-54G>A) c.460G>A (p.Val154Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325880G>C | CA338162321 | SLC45A1 | c.553G>C (p.Val185Leu) c.655G>C (p.Val219Leu) c.562G>C (p.Val188Leu) c.-54G>C (n.-54G>C) c.460G>C (p.Val154Leu) | |
1 | g.8325880G= | CA1152270549 | SLC45A1 | c.553G= (p.Val185=) c.655G= (p.Val219=) c.562G= (p.Val188=) c.-54G= (n.-54G=) c.460G= (p.Val154=) | |
1 | g.8325880G>T | CA338162322 | SLC45A1 | c.553G>T (p.Val185Leu) c.655G>T (p.Val219Leu) c.562G>T (p.Val188Leu) c.-54G>T (n.-54G>T) c.460G>T (p.Val154Leu) | |
1 | g.8325881T>A | CA338162324 | SLC45A1 | c.554T>A (p.Val185Glu) c.656T>A (p.Val219Glu) c.563T>A (p.Val188Glu) c.-53T>A (n.-53T>A) c.461T>A (p.Val154Glu) | |
1 | g.8325881T>C | CA338162326 | SLC45A1 | c.554T>C (p.Val185Ala) c.656T>C (p.Val219Ala) c.563T>C (p.Val188Ala) c.-53T>C (n.-53T>C) c.461T>C (p.Val154Ala) | |
1 | g.8325881T>G | CA338162327 | SLC45A1 | c.554T>G (p.Val185Gly) c.656T>G (p.Val219Gly) c.563T>G (p.Val188Gly) c.-53T>G (n.-53T>G) c.461T>G (p.Val154Gly) | |
1 | g.8325882G>A | CA415835724 | SLC45A1 | c.555G>A (p.Val185=) c.657G>A (p.Val219=) c.564G>A (p.Val188=) c.-52G>A (n.-52G>A) c.462G>A (p.Val154=) | gnomAD v4 |
1 | g.8325882G>C | CA415835725 | SLC45A1 | c.555G>C (p.Val185=) c.657G>C (p.Val219=) c.564G>C (p.Val188=) c.-52G>C (n.-52G>C) c.462G>C (p.Val154=) | |
1 | g.8325882G>T | CA415835726 | SLC45A1 | c.555G>T (p.Val185=) c.657G>T (p.Val219=) c.564G>T (p.Val188=) c.-52G>T (n.-52G>T) c.462G>T (p.Val154=) | |
1 | g.8325882dup | CA2840117600 | SLC45A1 | c.555dup (p.Thr186AspfsTer21) c.657dup (p.Thr220AspfsTer21) c.564dup (p.Thr189AspfsTer21) c.-52dup (n.-52dup) c.462dup (p.Thr155AspfsTer21) | |
1 | g.8325883A>C | CA338162329 | SLC45A1 | c.556A>C (p.Thr186Pro) c.658A>C (p.Thr220Pro) c.565A>C (p.Thr189Pro) c.-51A>C (n.-51A>C) c.463A>C (p.Thr155Pro) | |
1 | g.8325883A>G | CA338162331 | SLC45A1 | c.556A>G (p.Thr186Ala) c.658A>G (p.Thr220Ala) c.565A>G (p.Thr189Ala) c.-51A>G (n.-51A>G) c.463A>G (p.Thr155Ala) | gnomAD v4 |
1 | g.8325883A>T | CA338162332 | SLC45A1 | c.556A>T (p.Thr186Ser) c.658A>T (p.Thr220Ser) c.565A>T (p.Thr189Ser) c.-51A>T (n.-51A>T) c.463A>T (p.Thr155Ser) | |
1 | g.8325884C>A | CA338162334 | SLC45A1 | c.557C>A (p.Thr186Asn) c.659C>A (p.Thr220Asn) c.566C>A (p.Thr189Asn) c.-50C>A (n.-50C>A) c.464C>A (p.Thr155Asn) | |
1 | g.8325884C>G | CA338162337 | SLC45A1 | c.557C>G (p.Thr186Ser) c.659C>G (p.Thr220Ser) c.566C>G (p.Thr189Ser) c.-50C>G (n.-50C>G) c.464C>G (p.Thr155Ser) | |
1 | g.8325884C>T | CA338162335 | SLC45A1 | c.557C>T (p.Thr186Ile) c.659C>T (p.Thr220Ile) c.566C>T (p.Thr189Ile) c.-50C>T (n.-50C>T) c.464C>T (p.Thr155Ile) | dbSNP |
1 | g.8325885C>A | CA415835728 | SLC45A1 | c.558C>A (p.Thr186=) c.660C>A (p.Thr220=) c.567C>A (p.Thr189=) c.-49C>A (n.-49C>A) c.465C>A (p.Thr155=) | |
1 | g.8325885C= | CA1152270553 | SLC45A1 | c.558C= (p.Thr186=) c.660C= (p.Thr220=) c.567C= (p.Thr189=) c.-49C= (n.-49C=) c.465C= (p.Thr155=) | |
1 | g.8325885C>G | CA415835729 | SLC45A1 | c.558C>G (p.Thr186=) c.660C>G (p.Thr220=) c.567C>G (p.Thr189=) c.-49C>G (n.-49C>G) c.465C>G (p.Thr155=) | |
1 | g.8325885C>T | CA570128 | SLC45A1 | c.558C>T (p.Thr186=) c.660C>T (p.Thr220=) c.567C>T (p.Thr189=) c.-49C>T (n.-49C>T) c.465C>T (p.Thr155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325886G>A | CA570129 | SLC45A1 | c.559G>A (p.Gly187Arg) c.661G>A (p.Gly221Arg) c.568G>A (p.Gly190Arg) c.-48G>A (n.-48G>A) c.466G>A (p.Gly156Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325886G>C | CA338162340 | SLC45A1 | c.559G>C (p.Gly187Arg) c.661G>C (p.Gly221Arg) c.568G>C (p.Gly190Arg) c.-48G>C (n.-48G>C) c.466G>C (p.Gly156Arg) | |
1 | g.8325886G= | CA1142119550 | SLC45A1 | c.559G= (p.Gly187=) c.661G= (p.Gly221=) c.568G= (p.Gly190=) c.-48G= (n.-48G=) c.466G= (p.Gly156=) | |
1 | g.8325886G>T | CA338162343 | SLC45A1 | c.559G>T (p.Gly187Trp) c.661G>T (p.Gly221Trp) c.568G>T (p.Gly190Trp) c.-48G>T (n.-48G>T) c.466G>T (p.Gly156Trp) | |
1 | g.8325887G>A | CA338162345 | SLC45A1 | c.560G>A (p.Gly187Glu) c.662G>A (p.Gly221Glu) c.569G>A (p.Gly190Glu) c.-47G>A (n.-47G>A) c.467G>A (p.Gly156Glu) | |
1 | g.8325887G>C | CA338162349 | SLC45A1 | c.560G>C (p.Gly187Ala) c.662G>C (p.Gly221Ala) c.569G>C (p.Gly190Ala) c.-47G>C (n.-47G>C) c.467G>C (p.Gly156Ala) | |
1 | g.8325887G>T | CA338162346 | SLC45A1 | c.560G>T (p.Gly187Val) c.662G>T (p.Gly221Val) c.569G>T (p.Gly190Val) c.-47G>T (n.-47G>T) c.467G>T (p.Gly156Val) | |
1 | g.8325888G>A | CA415835733 | SLC45A1 | c.561G>A (p.Gly187=) c.663G>A (p.Gly221=) c.570G>A (p.Gly190=) c.-46G>A (n.-46G>A) c.468G>A (p.Gly156=) | |
1 | g.8325888G>C | CA415835732 | SLC45A1 | c.561G>C (p.Gly187=) c.663G>C (p.Gly221=) c.570G>C (p.Gly190=) c.-46G>C (n.-46G>C) c.468G>C (p.Gly156=) | |
1 | g.8325888G>T | CA415835731 | SLC45A1 | c.561G>T (p.Gly187=) c.663G>T (p.Gly221=) c.570G>T (p.Gly190=) c.-46G>T (n.-46G>T) c.468G>T (p.Gly156=) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.8325889A>C | CA338162350 | SLC45A1 | c.562A>C (p.Asn188His) c.664A>C (p.Asn222His) c.571A>C (p.Asn191His) c.-45A>C (n.-45A>C) c.469A>C (p.Asn157His) | |
1 | g.8325889A>G | CA338162351 | SLC45A1 | c.562A>G (p.Asn188Asp) c.664A>G (p.Asn222Asp) c.571A>G (p.Asn191Asp) c.-45A>G (n.-45A>G) c.469A>G (p.Asn157Asp) | |
1 | g.8325889A>T | CA338162353 | SLC45A1 | c.562A>T (p.Asn188Tyr) c.664A>T (p.Asn222Tyr) c.571A>T (p.Asn191Tyr) c.-45A>T (n.-45A>T) c.469A>T (p.Asn157Tyr) | |
1 | g.8325890A>C | CA338162355 | SLC45A1 | c.563A>C (p.Asn188Thr) c.665A>C (p.Asn222Thr) c.572A>C (p.Asn191Thr) c.-44A>C (n.-44A>C) c.470A>C (p.Asn157Thr) | |
1 | g.8325890A>G | CA338162357 | SLC45A1 | c.563A>G (p.Asn188Ser) c.665A>G (p.Asn222Ser) c.572A>G (p.Asn191Ser) c.-44A>G (n.-44A>G) c.470A>G (p.Asn157Ser) | gnomAD v4 |
1 | g.8325890A>T | CA338162358 | SLC45A1 | c.563A>T (p.Asn188Ile) c.665A>T (p.Asn222Ile) c.572A>T (p.Asn191Ile) c.-44A>T (n.-44A>T) c.470A>T (p.Asn157Ile) | |
1 | g.8325891C>A | CA338162361 | SLC45A1 | c.564C>A (p.Asn188Lys) c.666C>A (p.Asn222Lys) c.573C>A (p.Asn191Lys) c.-43C>A (n.-43C>A) c.471C>A (p.Asn157Lys) | |
1 | g.8325891C= | CA1152270555 | SLC45A1 | c.564C= (p.Asn188=) c.666C= (p.Asn222=) c.573C= (p.Asn191=) c.-43C= (n.-43C=) c.471C= (p.Asn157=) | |
1 | g.8325891C>G | CA338162362 | SLC45A1 | c.564C>G (p.Asn188Lys) c.666C>G (p.Asn222Lys) c.573C>G (p.Asn191Lys) c.-43C>G (n.-43C>G) c.471C>G (p.Asn157Lys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325891C>T | CA415835735 | SLC45A1 | c.564C>T (p.Asn188=) c.666C>T (p.Asn222=) c.573C>T (p.Asn191=) c.-43C>T (n.-43C>T) c.471C>T (p.Asn157=) | gnomAD v4 |
1 | g.8325892C>A | CA338162364 | SLC45A1 | c.565C>A (p.His189Asn) c.667C>A (p.His223Asn) c.574C>A (p.His192Asn) c.-42C>A (n.-42C>A) c.472C>A (p.His158Asn) | |
1 | g.8325892C>G | CA338162365 | SLC45A1 | c.565C>G (p.His189Asp) c.667C>G (p.His223Asp) c.574C>G (p.His192Asp) c.-42C>G (n.-42C>G) c.472C>G (p.His158Asp) | |
1 | g.8325892C>T | CA338162367 | SLC45A1 | c.565C>T (p.His189Tyr) c.667C>T (p.His223Tyr) c.574C>T (p.His192Tyr) c.-42C>T (n.-42C>T) c.472C>T (p.His158Tyr) | |
1 | g.8325893A>C | CA338162372 | SLC45A1 | c.566A>C (p.His189Pro) c.668A>C (p.His223Pro) c.575A>C (p.His192Pro) c.-41A>C (n.-41A>C) c.473A>C (p.His158Pro) | |
1 | g.8325893A>G | CA338162370 | SLC45A1 | c.566A>G (p.His189Arg) c.668A>G (p.His223Arg) c.575A>G (p.His192Arg) c.-41A>G (n.-41A>G) c.473A>G (p.His158Arg) | |
1 | g.8325893A>T | CA338162369 | SLC45A1 | c.566A>T (p.His189Leu) c.668A>T (p.His223Leu) c.575A>T (p.His192Leu) c.-41A>T (n.-41A>T) c.473A>T (p.His158Leu) | |
1 | g.8325894C>A | CA338162374 | SLC45A1 | c.567C>A (p.His189Gln) c.669C>A (p.His223Gln) c.576C>A (p.His192Gln) c.-40C>A (n.-40C>A) c.474C>A (p.His158Gln) | |
1 | g.8325894C= | CA1147849243 | SLC45A1 | c.567C= (p.His189=) c.669C= (p.His223=) c.576C= (p.His192=) c.-40C= (n.-40C=) c.474C= (p.His158=) | |
1 | g.8325894C>G | CA17660000 | SLC45A1 | c.567C>G (p.His189Gln) c.669C>G (p.His223Gln) c.576C>G (p.His192Gln) c.-40C>G (n.-40C>G) c.474C>G (p.His158Gln) | dbSNP |
1 | g.8325894C>T | CA415835738 | SLC45A1 | c.567C>T (p.His189=) c.669C>T (p.His223=) c.576C>T (p.His192=) c.-40C>T (n.-40C>T) c.474C>T (p.His158=) | |
1 | g.8325895A= | CA1152270561 | SLC45A1 | c.568A= (p.Lys190=) c.670A= (p.Lys224=) c.577A= (p.Lys193=) c.-39A= (n.-39A=) c.475A= (p.Lys159=) | |
1 | g.8325895A>C | CA338162376 | SLC45A1 | c.568A>C (p.Lys190Gln) c.670A>C (p.Lys224Gln) c.577A>C (p.Lys193Gln) c.-39A>C (n.-39A>C) c.475A>C (p.Lys159Gln) | |
1 | g.8325895A>G | CA570130 | SLC45A1 | c.568A>G (p.Lys190Glu) c.670A>G (p.Lys224Glu) c.577A>G (p.Lys193Glu) c.-39A>G (n.-39A>G) c.475A>G (p.Lys159Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325895A>T | CA338162379 | SLC45A1 | c.568A>T (p.Lys190Ter) c.670A>T (p.Lys224Ter) c.577A>T (p.Lys193Ter) c.-39A>T (n.-39A>T) c.475A>T (p.Lys159Ter) | |
1 | g.8325896A= | CA1152270563 | SLC45A1 | c.569A= (p.Lys190=) c.671A= (p.Lys224=) c.578A= (p.Lys193=) c.-38A= (n.-38A=) c.476A= (p.Lys159=) | |
1 | g.8325896A>C | CA338162381 | SLC45A1 | c.569A>C (p.Lys190Thr) c.671A>C (p.Lys224Thr) c.578A>C (p.Lys193Thr) c.-38A>C (n.-38A>C) c.476A>C (p.Lys159Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325896A>G | CA338162385 | SLC45A1 | c.569A>G (p.Lys190Arg) c.671A>G (p.Lys224Arg) c.578A>G (p.Lys193Arg) c.-38A>G (n.-38A>G) c.476A>G (p.Lys159Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325896A>T | CA338162386 | SLC45A1 | c.569A>T (p.Lys190Met) c.671A>T (p.Lys224Met) c.578A>T (p.Lys193Met) c.-38A>T (n.-38A>T) c.476A>T (p.Lys159Met) | |
1 | g.8325897G>A | CA570131 | SLC45A1 | c.570G>A (p.Lys190=) c.672G>A (p.Lys224=) c.579G>A (p.Lys193=) c.-37G>A (n.-37G>A) c.477G>A (p.Lys159=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325897G>C | CA338162388 | SLC45A1 | c.570G>C (p.Lys190Asn) c.672G>C (p.Lys224Asn) c.579G>C (p.Lys193Asn) c.-37G>C (n.-37G>C) c.477G>C (p.Lys159Asn) | gnomAD v4 |
1 | g.8325897G= | CA1152270566 | SLC45A1 | c.570G= (p.Lys190=) c.672G= (p.Lys224=) c.579G= (p.Lys193=) c.-37G= (n.-37G=) c.477G= (p.Lys159=) | |
1 | g.8325897G>T | CA338162390 | SLC45A1 | c.570G>T (p.Lys190Asn) c.672G>T (p.Lys224Asn) c.579G>T (p.Lys193Asn) c.-37G>T (n.-37G>T) c.477G>T (p.Lys159Asn) | dbSNP |
1 | g.8325898T>A | CA338162395 | SLC45A1 | c.571T>A (p.Trp191Arg) c.673T>A (p.Trp225Arg) c.580T>A (p.Trp194Arg) c.-36T>A (n.-36T>A) c.478T>A (p.Trp160Arg) | |
1 | g.8325898T>C | CA570132 | SLC45A1 | c.571T>C (p.Trp191Arg) c.673T>C (p.Trp225Arg) c.580T>C (p.Trp194Arg) c.-36T>C (n.-36T>C) c.478T>C (p.Trp160Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325898T>G | CA338162392 | SLC45A1 | c.571T>G (p.Trp191Gly) c.673T>G (p.Trp225Gly) c.580T>G (p.Trp194Gly) c.-36T>G (n.-36T>G) c.478T>G (p.Trp160Gly) | |
1 | g.8325898T= | CA1152270569 | SLC45A1 | c.571T= (p.Trp191=) c.673T= (p.Trp225=) c.580T= (p.Trp194=) c.-36T= (n.-36T=) c.478T= (p.Trp160=) | |
1 | g.8325899G>A | CA338162396 | SLC45A1 | c.572G>A (p.Trp191Ter) c.674G>A (p.Trp225Ter) c.581G>A (p.Trp194Ter) c.-35G>A (n.-35G>A) c.479G>A (p.Trp160Ter) | gnomAD v4 |
1 | g.8325899G>C | CA338162398 | SLC45A1 | c.572G>C (p.Trp191Ser) c.674G>C (p.Trp225Ser) c.581G>C (p.Trp194Ser) c.-35G>C (n.-35G>C) c.479G>C (p.Trp160Ser) | |
1 | g.8325899G>T | CA338162400 | SLC45A1 | c.572G>T (p.Trp191Leu) c.674G>T (p.Trp225Leu) c.581G>T (p.Trp194Leu) c.-35G>T (n.-35G>T) c.479G>T (p.Trp160Leu) | |
1 | g.8325900G>A | CA338162402 | SLC45A1 | c.573G>A (p.Trp191Ter) c.675G>A (p.Trp225Ter) c.582G>A (p.Trp194Ter) c.-34G>A (n.-34G>A) c.480G>A (p.Trp160Ter) | |
1 | g.8325900G>C | CA338162403 | SLC45A1 | c.573G>C (p.Trp191Cys) c.675G>C (p.Trp225Cys) c.582G>C (p.Trp194Cys) c.-34G>C (n.-34G>C) c.480G>C (p.Trp160Cys) | |
1 | g.8325900G>T | CA338162404 | SLC45A1 | c.573G>T (p.Trp191Cys) c.675G>T (p.Trp225Cys) c.582G>T (p.Trp194Cys) c.-34G>T (n.-34G>T) c.480G>T (p.Trp160Cys) | |
1 | g.8325901G>A | CA338162409 | SLC45A1 | c.574G>A (p.Gly192Ser) c.676G>A (p.Gly226Ser) c.583G>A (p.Gly195Ser) c.-33G>A (n.-33G>A) c.481G>A (p.Gly161Ser) | gnomAD v4 |
1 | g.8325901G>C | CA338162406 | SLC45A1 | c.574G>C (p.Gly192Arg) c.676G>C (p.Gly226Arg) c.583G>C (p.Gly195Arg) c.-33G>C (n.-33G>C) c.481G>C (p.Gly161Arg) | |
1 | g.8325901G>T | CA338162407 | SLC45A1 | c.574G>T (p.Gly192Cys) c.676G>T (p.Gly226Cys) c.583G>T (p.Gly195Cys) c.-33G>T (n.-33G>T) c.481G>T (p.Gly161Cys) | |
1 | g.8325902G>A | CA338162411 | SLC45A1 | c.575G>A (p.Gly192Asp) c.677G>A (p.Gly226Asp) c.584G>A (p.Gly195Asp) c.-32G>A (n.-32G>A) c.482G>A (p.Gly161Asp) | |
1 | g.8325902G>C | CA338162413 | SLC45A1 | c.575G>C (p.Gly192Ala) c.677G>C (p.Gly226Ala) c.584G>C (p.Gly195Ala) c.-32G>C (n.-32G>C) c.482G>C (p.Gly161Ala) | gnomAD v4 |
1 | g.8325902G>T | CA338162415 | SLC45A1 | c.575G>T (p.Gly192Val) c.677G>T (p.Gly226Val) c.584G>T (p.Gly195Val) c.-32G>T (n.-32G>T) c.482G>T (p.Gly161Val) | gnomAD v4 |
1 | g.8325903C>A | CA415835752 | SLC45A1 | c.576C>A (p.Gly192=) c.678C>A (p.Gly226=) c.585C>A (p.Gly195=) c.-31C>A (n.-31C>A) c.483C>A (p.Gly161=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325903C= | CA1152270571 | SLC45A1 | c.576C= (p.Gly192=) c.678C= (p.Gly226=) c.585C= (p.Gly195=) c.-31C= (n.-31C=) c.483C= (p.Gly161=) | |
1 | g.8325903C>G | CA415835751 | SLC45A1 | c.576C>G (p.Gly192=) c.678C>G (p.Gly226=) c.585C>G (p.Gly195=) c.-31C>G (n.-31C>G) c.483C>G (p.Gly161=) | |
1 | g.8325903C>T | CA415835750 | SLC45A1 | c.576C>T (p.Gly192=) c.678C>T (p.Gly226=) c.585C>T (p.Gly195=) c.-31C>T (n.-31C>T) c.483C>T (p.Gly161=) | |
1 | g.8325904C>A | CA338162417 | SLC45A1 | c.577C>A (p.Leu193Met) c.679C>A (p.Leu227Met) c.586C>A (p.Leu196Met) c.-30C>A (n.-30C>A) c.484C>A (p.Leu162Met) | |
1 | g.8325904C= | CA1152270576 | SLC45A1 | c.577C= (p.Leu193=) c.679C= (p.Leu227=) c.586C= (p.Leu196=) c.-30C= (n.-30C=) c.484C= (p.Leu162=) | |
1 | g.8325904C>G | CA338162418 | SLC45A1 | c.577C>G (p.Leu193Val) c.679C>G (p.Leu227Val) c.586C>G (p.Leu196Val) c.-30C>G (n.-30C>G) c.484C>G (p.Leu162Val) | |
1 | g.8325904C>T | CA415835755 | SLC45A1 | c.577C>T (p.Leu193=) c.679C>T (p.Leu227=) c.586C>T (p.Leu196=) c.-30C>T (n.-30C>T) c.484C>T (p.Leu162=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325905T>A | CA338162419 | SLC45A1 | c.578T>A (p.Leu193Gln) c.680T>A (p.Leu227Gln) c.587T>A (p.Leu196Gln) c.-29T>A (n.-29T>A) c.485T>A (p.Leu162Gln) | |
1 | g.8325905T>C | CA338162421 | SLC45A1 | c.578T>C (p.Leu193Pro) c.680T>C (p.Leu227Pro) c.587T>C (p.Leu196Pro) c.-29T>C (n.-29T>C) c.485T>C (p.Leu162Pro) | |
1 | g.8325905T>G | CA338162420 | SLC45A1 | c.578T>G (p.Leu193Arg) c.680T>G (p.Leu227Arg) c.587T>G (p.Leu196Arg) c.-29T>G (n.-29T>G) c.485T>G (p.Leu162Arg) | |
1 | g.8325906G>A | CA415835756 | SLC45A1 | c.579G>A (p.Leu193=) c.681G>A (p.Leu227=) c.588G>A (p.Leu196=) c.-28G>A (n.-28G>A) c.486G>A (p.Leu162=) | |
1 | g.8325906G>C | CA415835757 | SLC45A1 | c.579G>C (p.Leu193=) c.681G>C (p.Leu227=) c.588G>C (p.Leu196=) c.-28G>C (n.-28G>C) c.486G>C (p.Leu162=) | |
1 | g.8325906G>T | CA415835758 | SLC45A1 | c.579G>T (p.Leu193=) c.681G>T (p.Leu227=) c.588G>T (p.Leu196=) c.-28G>T (n.-28G>T) c.486G>T (p.Leu162=) | |
1 | g.8325907C>A | CA338162422 | SLC45A1 | c.580C>A (p.Leu194Met) c.682C>A (p.Leu228Met) c.589C>A (p.Leu197Met) c.-27C>A (n.-27C>A) c.487C>A (p.Leu163Met) | |
1 | g.8325907C>G | CA338162423 | SLC45A1 | c.580C>G (p.Leu194Val) c.682C>G (p.Leu228Val) c.589C>G (p.Leu197Val) c.-27C>G (n.-27C>G) c.487C>G (p.Leu163Val) | |
1 | g.8325907C>T | CA415835759 | SLC45A1 | c.580C>T (p.Leu194=) c.682C>T (p.Leu228=) c.589C>T (p.Leu197=) c.-27C>T (n.-27C>T) c.487C>T (p.Leu163=) | |
1 | g.8325908T>A | CA338162424 | SLC45A1 | c.581T>A (p.Leu194Gln) c.683T>A (p.Leu228Gln) c.590T>A (p.Leu197Gln) c.-26T>A (n.-26T>A) c.488T>A (p.Leu163Gln) | |
1 | g.8325908T>C | CA338162425 | SLC45A1 | c.581T>C (p.Leu194Pro) c.683T>C (p.Leu228Pro) c.590T>C (p.Leu197Pro) c.-26T>C (n.-26T>C) c.488T>C (p.Leu163Pro) | |
1 | g.8325908T>G | CA338162426 | SLC45A1 | c.581T>G (p.Leu194Arg) c.683T>G (p.Leu228Arg) c.590T>G (p.Leu197Arg) c.-26T>G (n.-26T>G) c.488T>G (p.Leu163Arg) | |
1 | g.8325909G>A | CA415835764 | SLC45A1 | c.582G>A (p.Leu194=) c.684G>A (p.Leu228=) c.591G>A (p.Leu197=) c.-25G>A (n.-25G>A) c.489G>A (p.Leu163=) | |
1 | g.8325909G>C | CA415835766 | SLC45A1 | c.582G>C (p.Leu194=) c.684G>C (p.Leu228=) c.591G>C (p.Leu197=) c.-25G>C (n.-25G>C) c.489G>C (p.Leu163=) | |
1 | g.8325909G>T | CA415835767 | SLC45A1 | c.582G>T (p.Leu194=) c.684G>T (p.Leu228=) c.591G>T (p.Leu197=) c.-25G>T (n.-25G>T) c.489G>T (p.Leu163=) | |
1 | g.8325910C>A | CA338162427 | SLC45A1 | c.583C>A (p.Leu195Met) c.685C>A (p.Leu229Met) c.592C>A (p.Leu198Met) c.-24C>A (n.-24C>A) c.490C>A (p.Leu164Met) | |
1 | g.8325910C>G | CA338162428 | SLC45A1 | c.583C>G (p.Leu195Val) c.685C>G (p.Leu229Val) c.592C>G (p.Leu198Val) c.-24C>G (n.-24C>G) c.490C>G (p.Leu164Val) | |
1 | g.8325910C>T | CA415835769 | SLC45A1 | c.583C>T (p.Leu195=) c.685C>T (p.Leu229=) c.592C>T (p.Leu198=) c.-24C>T (n.-24C>T) c.490C>T (p.Leu164=) | |
1 | g.8325911T>A | CA338162430 | SLC45A1 | c.584T>A (p.Leu195Gln) c.686T>A (p.Leu229Gln) c.593T>A (p.Leu198Gln) c.-23T>A (n.-23T>A) c.491T>A (p.Leu164Gln) | |
1 | g.8325911T>C | CA338162431 | SLC45A1 | c.584T>C (p.Leu195Pro) c.686T>C (p.Leu229Pro) c.593T>C (p.Leu198Pro) c.-23T>C (n.-23T>C) c.491T>C (p.Leu164Pro) | |
1 | g.8325911T>G | CA338162433 | SLC45A1 | c.584T>G (p.Leu195Arg) c.686T>G (p.Leu229Arg) c.593T>G (p.Leu198Arg) c.-23T>G (n.-23T>G) c.491T>G (p.Leu164Arg) | |
1 | g.8325912G>A | CA415835770 | SLC45A1 | c.585G>A (p.Leu195=) c.687G>A (p.Leu229=) c.594G>A (p.Leu198=) c.-22G>A (n.-22G>A) c.492G>A (p.Leu164=) | |
1 | g.8325912G>C | CA415835772 | SLC45A1 | c.585G>C (p.Leu195=) c.687G>C (p.Leu229=) c.594G>C (p.Leu198=) c.-22G>C (n.-22G>C) c.492G>C (p.Leu164=) | |
1 | g.8325912G>T | CA415835773 | SLC45A1 | c.585G>T (p.Leu195=) c.687G>T (p.Leu229=) c.594G>T (p.Leu198=) c.-22G>T (n.-22G>T) c.492G>T (p.Leu164=) | |
1 | g.8325913A>C | CA338162438 | SLC45A1 | c.586A>C (p.Thr196Pro) c.688A>C (p.Thr230Pro) c.595A>C (p.Thr199Pro) c.-21A>C (n.-21A>C) c.493A>C (p.Thr165Pro) | |
1 | g.8325913A>G | CA338162437 | SLC45A1 | c.586A>G (p.Thr196Ala) c.688A>G (p.Thr230Ala) c.595A>G (p.Thr199Ala) c.-21A>G (n.-21A>G) c.493A>G (p.Thr165Ala) | |
1 | g.8325913A>T | CA338162435 | SLC45A1 | c.586A>T (p.Thr196Ser) c.688A>T (p.Thr230Ser) c.595A>T (p.Thr199Ser) c.-21A>T (n.-21A>T) c.493A>T (p.Thr165Ser) | |
1 | g.8325914C>A | CA338162439 | SLC45A1 | c.587C>A (p.Thr196Asn) c.689C>A (p.Thr230Asn) c.596C>A (p.Thr199Asn) c.-20C>A (n.-20C>A) c.494C>A (p.Thr165Asn) | |
1 | g.8325914C>G | CA338162441 | SLC45A1 | c.587C>G (p.Thr196Ser) c.689C>G (p.Thr230Ser) c.596C>G (p.Thr199Ser) c.-20C>G (n.-20C>G) c.494C>G (p.Thr165Ser) | |
1 | g.8325914C>T | CA338162440 | SLC45A1 | c.587C>T (p.Thr196Ile) c.689C>T (p.Thr230Ile) c.596C>T (p.Thr199Ile) c.-20C>T (n.-20C>T) c.494C>T (p.Thr165Ile) | |
1 | g.8325915C>A | CA415835778 | SLC45A1 | c.588C>A (p.Thr196=) c.690C>A (p.Thr230=) c.597C>A (p.Thr199=) c.-19C>A (n.-19C>A) c.495C>A (p.Thr165=) | |
1 | g.8325915C= | CA1144130525 | SLC45A1 | c.588C= (p.Thr196=) c.690C= (p.Thr230=) c.597C= (p.Thr199=) c.-19C= (n.-19C=) c.495C= (p.Thr165=) | |
1 | g.8325915C>G | CA415835779 | SLC45A1 | c.588C>G (p.Thr196=) c.690C>G (p.Thr230=) c.597C>G (p.Thr199=) c.-19C>G (n.-19C>G) c.495C>G (p.Thr165=) | |
1 | g.8325915C>T | CA570133 | SLC45A1 | c.588C>T (p.Thr196=) c.690C>T (p.Thr230=) c.597C>T (p.Thr199=) c.-19C>T (n.-19C>T) c.495C>T (p.Thr165=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325916G>A | CA570134 | SLC45A1 | c.589G>A (p.Val197Met) c.691G>A (p.Val231Met) c.598G>A (p.Val200Met) c.-18G>A (n.-18G>A) c.496G>A (p.Val166Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325916G>C | CA338162445 | SLC45A1 | c.589G>C (p.Val197Leu) c.691G>C (p.Val231Leu) c.598G>C (p.Val200Leu) c.-18G>C (n.-18G>C) c.496G>C (p.Val166Leu) | |
1 | g.8325916G= | CA1152270580 | SLC45A1 | c.589G= (p.Val197=) c.691G= (p.Val231=) c.598G= (p.Val200=) c.-18G= (n.-18G=) c.496G= (p.Val166=) | |
1 | g.8325916G>T | CA338162447 | SLC45A1 | c.589G>T (p.Val197Leu) c.691G>T (p.Val231Leu) c.598G>T (p.Val200Leu) c.-18G>T (n.-18G>T) c.496G>T (p.Val166Leu) | |
1 | g.8325916_8325917insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC | CA2643069218 | SLC45A1 | c.589_590insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val197delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu) c.691_692insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val231delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu) c.598_599insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val200delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu) c.-18_-17insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (n.-18_-17insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC) c.496_497insGACTTCGGGGACCTGCACCCCCAGAGGTCCTTCCGGGAGCTGCTTTTCAACGGCTGCATTCTC (p.Val166delinsGlyLeuArgGlyProAlaProProGluValLeuProGlyAlaAlaPheGlnArgLeuHisSerLeu) | gnomAD v4 |
1 | g.8325917T>A | CA338162449 | SLC45A1 | c.590T>A (p.Val197Glu) c.692T>A (p.Val231Glu) c.599T>A (p.Val200Glu) c.-17T>A (n.-17T>A) c.497T>A (p.Val166Glu) | |
1 | g.8325917T>C | CA338162450 | SLC45A1 | c.590T>C (p.Val197Ala) c.692T>C (p.Val231Ala) c.599T>C (p.Val200Ala) c.-17T>C (n.-17T>C) c.497T>C (p.Val166Ala) | |
1 | g.8325917T>G | CA338162452 | SLC45A1 | c.590T>G (p.Val197Gly) c.692T>G (p.Val231Gly) c.599T>G (p.Val200Gly) c.-17T>G (n.-17T>G) c.497T>G (p.Val166Gly) | |
1 | g.8325918G>A | CA415835783 | SLC45A1 | c.591G>A (p.Val197=) c.693G>A (p.Val231=) c.600G>A (p.Val200=) c.-16G>A (n.-16G>A) c.498G>A (p.Val166=) | |
1 | g.8325918G>C | CA415835784 | SLC45A1 | c.591G>C (p.Val197=) c.693G>C (p.Val231=) c.600G>C (p.Val200=) c.-16G>C (n.-16G>C) c.498G>C (p.Val166=) | |
1 | g.8325918G>T | CA415835785 | SLC45A1 | c.591G>T (p.Val197=) c.693G>T (p.Val231=) c.600G>T (p.Val200=) c.-16G>T (n.-16G>T) c.498G>T (p.Val166=) | |
1 | g.8325919T>A | CA338162453 | SLC45A1 | c.592T>A (p.Cys198Ser) c.694T>A (p.Cys232Ser) c.601T>A (p.Cys201Ser) c.-15T>A (n.-15T>A) c.499T>A (p.Cys167Ser) | |
1 | g.8325919T>C | CA338162455 | SLC45A1 | c.592T>C (p.Cys198Arg) c.694T>C (p.Cys232Arg) c.601T>C (p.Cys201Arg) c.-15T>C (n.-15T>C) c.499T>C (p.Cys167Arg) | |
1 | g.8325919T>G | CA338162457 | SLC45A1 | c.592T>G (p.Cys198Gly) c.694T>G (p.Cys232Gly) c.601T>G (p.Cys201Gly) c.-15T>G (n.-15T>G) c.499T>G (p.Cys167Gly) | |
1 | g.8325920G>A | CA338162462 | SLC45A1 | c.593G>A (p.Cys198Tyr) c.695G>A (p.Cys232Tyr) c.602G>A (p.Cys201Tyr) c.-14G>A (n.-14G>A) c.500G>A (p.Cys167Tyr) | |
1 | g.8325920G>C | CA338162460 | SLC45A1 | c.593G>C (p.Cys198Ser) c.695G>C (p.Cys232Ser) c.602G>C (p.Cys201Ser) c.-14G>C (n.-14G>C) c.500G>C (p.Cys167Ser) | |
1 | g.8325920G>T | CA338162459 | SLC45A1 | c.593G>T (p.Cys198Phe) c.695G>T (p.Cys232Phe) c.602G>T (p.Cys201Phe) c.-14G>T (n.-14G>T) c.500G>T (p.Cys167Phe) | |
1 | g.8325921C>A | CA338162465 | SLC45A1 | c.594C>A (p.Cys198Ter) c.696C>A (p.Cys232Ter) c.603C>A (p.Cys201Ter) c.-13C>A (n.-13C>A) c.501C>A (p.Cys167Ter) | |
1 | g.8325921C= | CA1152270582 | SLC45A1 | c.594C= (p.Cys198=) c.696C= (p.Cys232=) c.603C= (p.Cys201=) c.-13C= (n.-13C=) c.501C= (p.Cys167=) | |
1 | g.8325921C>G | CA338162467 | SLC45A1 | c.594C>G (p.Cys198Trp) c.696C>G (p.Cys232Trp) c.603C>G (p.Cys201Trp) c.-13C>G (n.-13C>G) c.501C>G (p.Cys167Trp) | |
1 | g.8325921C>T | CA570135 | SLC45A1 | c.594C>T (p.Cys198=) c.696C>T (p.Cys232=) c.603C>T (p.Cys201=) c.-13C>T (n.-13C>T) c.501C>T (p.Cys167=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325922G>A | CA338162470 | SLC45A1 | c.595G>A (p.Gly199Ser) c.697G>A (p.Gly233Ser) c.604G>A (p.Gly202Ser) c.-12G>A (n.-12G>A) c.502G>A (p.Gly168Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325922G>C | CA338162471 | SLC45A1 | c.595G>C (p.Gly199Arg) c.697G>C (p.Gly233Arg) c.604G>C (p.Gly202Arg) c.-12G>C (n.-12G>C) c.502G>C (p.Gly168Arg) | |
1 | g.8325922G= | CA1152270584 | SLC45A1 | c.595G= (p.Gly199=) c.697G= (p.Gly233=) c.604G= (p.Gly202=) c.-12G= (n.-12G=) c.502G= (p.Gly168=) | |
1 | g.8325922G>T | CA338162473 | SLC45A1 | c.595G>T (p.Gly199Cys) c.697G>T (p.Gly233Cys) c.604G>T (p.Gly202Cys) c.-12G>T (n.-12G>T) c.502G>T (p.Gly168Cys) | gnomAD v4 |
1 | g.8325923G>A | CA338162474 | SLC45A1 | c.596G>A (p.Gly199Asp) c.698G>A (p.Gly233Asp) c.605G>A (p.Gly202Asp) c.-11G>A (n.-11G>A) c.503G>A (p.Gly168Asp) | |
1 | g.8325923G>C | CA338162476 | SLC45A1 | c.596G>C (p.Gly199Ala) c.698G>C (p.Gly233Ala) c.605G>C (p.Gly202Ala) c.-11G>C (n.-11G>C) c.503G>C (p.Gly168Ala) | |
1 | g.8325923G>T | CA338162477 | SLC45A1 | c.596G>T (p.Gly199Val) c.698G>T (p.Gly233Val) c.605G>T (p.Gly202Val) c.-11G>T (n.-11G>T) c.503G>T (p.Gly168Val) | |
1 | g.8325924T>A | CA415835790 | SLC45A1 | c.597T>A (p.Gly199=) c.699T>A (p.Gly233=) c.606T>A (p.Gly202=) c.-10T>A (n.-10T>A) c.504T>A (p.Gly168=) | |
1 | g.8325924T>C | CA17660007 | SLC45A1 | c.597T>C (p.Gly199=) c.699T>C (p.Gly233=) c.606T>C (p.Gly202=) c.-10T>C (n.-10T>C) c.504T>C (p.Gly168=) | dbSNP |
1 | g.8325924T>G | CA415835789 | SLC45A1 | c.597T>G (p.Gly199=) c.699T>G (p.Gly233=) c.606T>G (p.Gly202=) c.-10T>G (n.-10T>G) c.504T>G (p.Gly168=) | dbSNP |
1 | g.8325924T= | CA1152270586 | SLC45A1 | c.597T= (p.Gly199=) c.699T= (p.Gly233=) c.606T= (p.Gly202=) c.-10T= (n.-10T=) c.504T= (p.Gly168=) | |
1 | g.8325925G>A | CA570136 | SLC45A1 | c.598G>A (p.Val200Met) c.700G>A (p.Val234Met) c.607G>A (p.Val203Met) c.-9G>A (n.-9G>A) c.505G>A (p.Val169Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325925G>C | CA338162479 | SLC45A1 | c.598G>C (p.Val200Leu) c.700G>C (p.Val234Leu) c.607G>C (p.Val203Leu) c.-9G>C (n.-9G>C) c.505G>C (p.Val169Leu) | |
1 | g.8325925G= | CA1152270589 | SLC45A1 | c.598G= (p.Val200=) c.700G= (p.Val234=) c.607G= (p.Val203=) c.-9G= (n.-9G=) c.505G= (p.Val169=) | |
1 | g.8325925G>T | CA338162481 | SLC45A1 | c.598G>T (p.Val200Leu) c.700G>T (p.Val234Leu) c.607G>T (p.Val203Leu) c.-9G>T (n.-9G>T) c.505G>T (p.Val169Leu) | |
1 | g.8325926T>A | CA338162485 | SLC45A1 | c.599T>A (p.Val200Glu) c.701T>A (p.Val234Glu) c.608T>A (p.Val203Glu) c.-8T>A (n.-8T>A) c.506T>A (p.Val169Glu) | |
1 | g.8325926T>C | CA338162487 | SLC45A1 | c.599T>C (p.Val200Ala) c.701T>C (p.Val234Ala) c.608T>C (p.Val203Ala) c.-8T>C (n.-8T>C) c.506T>C (p.Val169Ala) | |
1 | g.8325926T>G | CA338162482 | SLC45A1 | c.599T>G (p.Val200Gly) c.701T>G (p.Val234Gly) c.608T>G (p.Val203Gly) c.-8T>G (n.-8T>G) c.506T>G (p.Val169Gly) | |
1 | g.8325927G>A | CA570137 | SLC45A1 | c.600G>A (p.Val200=) c.702G>A (p.Val234=) c.609G>A (p.Val203=) c.-7G>A (n.-7G>A) c.507G>A (p.Val169=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325927G>C | CA415835793 | SLC45A1 | c.600G>C (p.Val200=) c.702G>C (p.Val234=) c.609G>C (p.Val203=) c.-7G>C (n.-7G>C) c.507G>C (p.Val169=) | |
1 | g.8325927G= | CA1140725574 | SLC45A1 | c.600G= (p.Val200=) c.702G= (p.Val234=) c.609G= (p.Val203=) c.-7G= (n.-7G=) c.507G= (p.Val169=) | |
1 | g.8325927G>T | CA415835795 | SLC45A1 | c.600G>T (p.Val200=) c.702G>T (p.Val234=) c.609G>T (p.Val203=) c.-7G>T (n.-7G>T) c.507G>T (p.Val169=) | |
1 | g.8325928G>A | CA338162490 | SLC45A1 | c.601G>A (p.Val201Met) c.703G>A (p.Val235Met) c.610G>A (p.Val204Met) c.-6G>A (n.-6G>A) c.508G>A (p.Val170Met) | |
1 | g.8325928G>C | CA338162491 | SLC45A1 | c.601G>C (p.Val201Leu) c.703G>C (p.Val235Leu) c.610G>C (p.Val204Leu) c.-6G>C (n.-6G>C) c.508G>C (p.Val170Leu) | dbSNP |
1 | g.8325928G= | CA1152270595 | SLC45A1 | c.601G= (p.Val201=) c.703G= (p.Val235=) c.610G= (p.Val204=) c.-6G= (n.-6G=) c.508G= (p.Val170=) | |
1 | g.8325928G>T | CA338162492 | SLC45A1 | c.601G>T (p.Val201Leu) c.703G>T (p.Val235Leu) c.610G>T (p.Val204Leu) c.-6G>T (n.-6G>T) c.508G>T (p.Val170Leu) | gnomAD v4 |
1 | g.8325929T>A | CA338162494 | SLC45A1 | c.602T>A (p.Val201Glu) c.704T>A (p.Val235Glu) c.611T>A (p.Val204Glu) c.-5T>A (n.-5T>A) c.509T>A (p.Val170Glu) | |
1 | g.8325929T>C | CA338162495 | SLC45A1 | c.602T>C (p.Val201Ala) c.704T>C (p.Val235Ala) c.611T>C (p.Val204Ala) c.-5T>C (n.-5T>C) c.509T>C (p.Val170Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325929T>G | CA338162497 | SLC45A1 | c.602T>G (p.Val201Gly) c.704T>G (p.Val235Gly) c.611T>G (p.Val204Gly) c.-5T>G (n.-5T>G) c.509T>G (p.Val170Gly) | |
1 | g.8325929T= | CA1152270599 | SLC45A1 | c.602T= (p.Val201=) c.704T= (p.Val235=) c.611T= (p.Val204=) c.-5T= (n.-5T=) c.509T= (p.Val170=) | |
1 | g.8325930G>A | CA570138 | SLC45A1 | c.603G>A (p.Val201=) c.705G>A (p.Val235=) c.612G>A (p.Val204=) c.-4G>A (n.-4G>A) c.510G>A (p.Val170=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325930G>C | CA415835797 | SLC45A1 | c.603G>C (p.Val201=) c.705G>C (p.Val235=) c.612G>C (p.Val204=) c.-4G>C (n.-4G>C) c.510G>C (p.Val170=) | |
1 | g.8325930G= | CA1152270601 | SLC45A1 | c.603G= (p.Val201=) c.705G= (p.Val235=) c.612G= (p.Val204=) c.-4G= (n.-4G=) c.510G= (p.Val170=) | |
1 | g.8325930G>T | CA415835802 | SLC45A1 | c.603G>T (p.Val201=) c.705G>T (p.Val235=) c.612G>T (p.Val204=) c.-4G>T (n.-4G>T) c.510G>T (p.Val170=) | |
1 | g.8325931C>A | CA338162499 | SLC45A1 | c.604C>A (p.Leu202Met) c.706C>A (p.Leu236Met) c.613C>A (p.Leu205Met) c.-3C>A (n.-3C>A) c.511C>A (p.Leu171Met) | |
1 | g.8325931C>G | CA338162501 | SLC45A1 | c.604C>G (p.Leu202Val) c.706C>G (p.Leu236Val) c.613C>G (p.Leu205Val) c.-3C>G (n.-3C>G) c.511C>G (p.Leu171Val) | |
1 | g.8325931C>T | CA415835803 | SLC45A1 | c.604C>T (p.Leu202=) c.706C>T (p.Leu236=) c.613C>T (p.Leu205=) c.-3C>T (n.-3C>T) c.511C>T (p.Leu171=) | COSMIC |
1 | g.8325932T>A | CA338162504 | SLC45A1 | c.605T>A (p.Leu202Gln) c.707T>A (p.Leu236Gln) c.614T>A (p.Leu205Gln) c.-2T>A (n.-2T>A) c.512T>A (p.Leu171Gln) | |
1 | g.8325932T>C | CA338162507 | SLC45A1 | c.605T>C (p.Leu202Pro) c.707T>C (p.Leu236Pro) c.614T>C (p.Leu205Pro) c.-2T>C (n.-2T>C) c.512T>C (p.Leu171Pro) | |
1 | g.8325932T>G | CA338162512 | SLC45A1 | c.605T>G (p.Leu202Arg) c.707T>G (p.Leu236Arg) c.614T>G (p.Leu205Arg) c.-2T>G (n.-2T>G) c.512T>G (p.Leu171Arg) | |
1 | g.8325933G>A | CA415835805 | SLC45A1 | c.606G>A (p.Leu202=) c.708G>A (p.Leu236=) c.615G>A (p.Leu205=) c.-1G>A (n.-1G>A) c.513G>A (p.Leu171=) | gnomAD v4 |
1 | g.8325933G>C | CA415835806 | SLC45A1 | c.606G>C (p.Leu202=) c.708G>C (p.Leu236=) c.615G>C (p.Leu205=) c.-1G>C (n.-1G>C) c.513G>C (p.Leu171=) | |
1 | g.8325933G>T | CA415835807 | SLC45A1 | c.606G>T (p.Leu202=) c.708G>T (p.Leu236=) c.615G>T (p.Leu205=) c.-1G>T (n.-1G>T) c.513G>T (p.Leu171=) | |
1 | g.8325934A>C | CA338162517 | SLC45A1 | c.607A>C (p.Met203Leu) c.709A>C (p.Met237Leu) c.616A>C (p.Met206Leu) c.1A>C (p.Met1Leu) c.514A>C (p.Met172Leu) | |
1 | g.8325934A>G | CA338162516 | SLC45A1 | c.607A>G (p.Met203Val) c.709A>G (p.Met237Val) c.616A>G (p.Met206Val) c.1A>G (p.Met1Val) c.514A>G (p.Met172Val) | |
1 | g.8325934A>T | CA338162515 | SLC45A1 | c.607A>T (p.Met203Leu) c.709A>T (p.Met237Leu) c.616A>T (p.Met206Leu) c.1A>T (p.Met1Leu) c.514A>T (p.Met172Leu) | |
1 | g.8325935T>A | CA338162518 | SLC45A1 | c.608T>A (p.Met203Lys) c.710T>A (p.Met237Lys) c.617T>A (p.Met206Lys) c.2T>A (p.Met1Lys) c.515T>A (p.Met172Lys) | |
1 | g.8325935T>C | CA338162519 | SLC45A1 | c.608T>C (p.Met203Thr) c.710T>C (p.Met237Thr) c.617T>C (p.Met206Thr) c.2T>C (p.Met1Thr) c.515T>C (p.Met172Thr) | gnomAD v4 |
1 | g.8325935T>G | CA338162520 | SLC45A1 | c.608T>G (p.Met203Arg) c.710T>G (p.Met237Arg) c.617T>G (p.Met206Arg) c.2T>G (p.Met1Arg) c.515T>G (p.Met172Arg) | |
1 | g.8325936G>A | CA338162524 | SLC45A1 | c.609G>A (p.Met203Ile) c.711G>A (p.Met237Ile) c.618G>A (p.Met206Ile) c.3G>A (p.Met1Ile) c.516G>A (p.Met172Ile) | |
1 | g.8325936G>C | CA338162526 | SLC45A1 | c.609G>C (p.Met203Ile) c.711G>C (p.Met237Ile) c.618G>C (p.Met206Ile) c.3G>C (p.Met1Ile) c.516G>C (p.Met172Ile) | |
1 | g.8325936G>T | CA338162528 | SLC45A1 | c.609G>T (p.Met203Ile) c.711G>T (p.Met237Ile) c.618G>T (p.Met206Ile) c.3G>T (p.Met1Ile) c.516G>T (p.Met172Ile) | |
1 | g.8325937G>A | CA338162529 | SLC45A1 | c.610G>A (p.Asp204Asn) c.712G>A (p.Asp238Asn) c.619G>A (p.Asp207Asn) c.4G>A (p.Asp2Asn) c.517G>A (p.Asp173Asn) | gnomAD v4 |
1 | g.8325937G>C | CA338162530 | SLC45A1 | c.610G>C (p.Asp204His) c.712G>C (p.Asp238His) c.619G>C (p.Asp207His) c.4G>C (p.Asp2His) c.517G>C (p.Asp173His) | |
1 | g.8325937G>T | CA338162532 | SLC45A1 | c.610G>T (p.Asp204Tyr) c.712G>T (p.Asp238Tyr) c.619G>T (p.Asp207Tyr) c.4G>T (p.Asp2Tyr) c.517G>T (p.Asp173Tyr) | |
1 | g.8325938A= | CA1152270603 | SLC45A1 | c.611A= (p.Asp204=) c.713A= (p.Asp238=) c.620A= (p.Asp207=) c.5A= (p.Asp2=) c.518A= (p.Asp173=) | |
1 | g.8325938A>C | CA338162533 | SLC45A1 | c.611A>C (p.Asp204Ala) c.713A>C (p.Asp238Ala) c.620A>C (p.Asp207Ala) c.5A>C (p.Asp2Ala) c.518A>C (p.Asp173Ala) | |
1 | g.8325938A>G | CA338162535 | SLC45A1 | c.611A>G (p.Asp204Gly) c.713A>G (p.Asp238Gly) c.620A>G (p.Asp207Gly) c.5A>G (p.Asp2Gly) c.518A>G (p.Asp173Gly) | |
1 | g.8325938A>T | CA338162537 | SLC45A1 | c.611A>T (p.Asp204Val) c.713A>T (p.Asp238Val) c.620A>T (p.Asp207Val) c.5A>T (p.Asp2Val) c.518A>T (p.Asp173Val) | dbSNP |
1 | g.8325939C>A | CA338162539 | SLC45A1 | c.612C>A (p.Asp204Glu) c.714C>A (p.Asp238Glu) c.621C>A (p.Asp207Glu) c.6C>A (p.Asp2Glu) c.519C>A (p.Asp173Glu) | |
1 | g.8325939C= | CA1140725577 | SLC45A1 | c.612C= (p.Asp204=) c.714C= (p.Asp238=) c.621C= (p.Asp207=) c.6C= (p.Asp2=) c.519C= (p.Asp173=) | |
1 | g.8325939C>G | CA338162538 | SLC45A1 | c.612C>G (p.Asp204Glu) c.714C>G (p.Asp238Glu) c.621C>G (p.Asp207Glu) c.6C>G (p.Asp2Glu) c.519C>G (p.Asp173Glu) | |
1 | g.8325939C>T | CA570139 | SLC45A1 | c.612C>T (p.Asp204=) c.714C>T (p.Asp238=) c.621C>T (p.Asp207=) c.6C>T (p.Asp2=) c.519C>T (p.Asp173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325940T>A | CA338162542 | SLC45A1 | c.613T>A (p.Phe205Ile) c.715T>A (p.Phe239Ile) c.622T>A (p.Phe208Ile) c.7T>A (p.Phe3Ile) c.520T>A (p.Phe174Ile) | |
1 | g.8325940T>C | CA338162543 | SLC45A1 | c.613T>C (p.Phe205Leu) c.715T>C (p.Phe239Leu) c.622T>C (p.Phe208Leu) c.7T>C (p.Phe3Leu) c.520T>C (p.Phe174Leu) | |
1 | g.8325940T>G | CA570140 | SLC45A1 | c.613T>G (p.Phe205Val) c.715T>G (p.Phe239Val) c.622T>G (p.Phe208Val) c.7T>G (p.Phe3Val) c.520T>G (p.Phe174Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325940T= | CA1148262899 | SLC45A1 | c.613T= (p.Phe205=) c.715T= (p.Phe239=) c.622T= (p.Phe208=) c.7T= (p.Phe3=) c.520T= (p.Phe174=) | |
1 | g.8325942del | CA2840117601 | SLC45A1 | c.615del (p.Phe205LeufsTer14) c.717del (p.Phe239LeufsTer14) c.624del (p.Phe208LeufsTer14) c.9del (p.Phe3LeufsTer14) c.522del (p.Phe174LeufsTer14) | |
1 | g.8325941T>A | CA338162549 | SLC45A1 | c.614T>A (p.Phe205Tyr) c.716T>A (p.Phe239Tyr) c.623T>A (p.Phe208Tyr) c.8T>A (p.Phe3Tyr) c.521T>A (p.Phe174Tyr) | |
1 | g.8325941T>C | CA338162551 | SLC45A1 | c.614T>C (p.Phe205Ser) c.716T>C (p.Phe239Ser) c.623T>C (p.Phe208Ser) c.8T>C (p.Phe3Ser) c.521T>C (p.Phe174Ser) | |
1 | g.8325941T>G | CA338162553 | SLC45A1 | c.614T>G (p.Phe205Cys) c.716T>G (p.Phe239Cys) c.623T>G (p.Phe208Cys) c.8T>G (p.Phe3Cys) c.521T>G (p.Phe174Cys) | |
1 | g.8325942T>A | CA338162554 | SLC45A1 | c.615T>A (p.Phe205Leu) c.717T>A (p.Phe239Leu) c.624T>A (p.Phe208Leu) c.9T>A (p.Phe3Leu) c.522T>A (p.Phe174Leu) | |
1 | g.8325942T>C | CA415835831 | SLC45A1 | c.615T>C (p.Phe205=) c.717T>C (p.Phe239=) c.624T>C (p.Phe208=) c.9T>C (p.Phe3=) c.522T>C (p.Phe174=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325942T>G | CA338162555 | SLC45A1 | c.615T>G (p.Phe205Leu) c.717T>G (p.Phe239Leu) c.624T>G (p.Phe208Leu) c.9T>G (p.Phe3Leu) c.522T>G (p.Phe174Leu) | |
1 | g.8325942T= | CA1152270610 | SLC45A1 | c.615T= (p.Phe205=) c.717T= (p.Phe239=) c.624T= (p.Phe208=) c.9T= (p.Phe3=) c.522T= (p.Phe174=) | |
1 | g.8325943A>C | CA338162556 | SLC45A1 | c.616A>C (p.Ser206Arg) c.718A>C (p.Ser240Arg) c.625A>C (p.Ser209Arg) c.10A>C (p.Ser4Arg) c.523A>C (p.Ser175Arg) | |
1 | g.8325943A>G | CA338162557 | SLC45A1 | c.616A>G (p.Ser206Gly) c.718A>G (p.Ser240Gly) c.625A>G (p.Ser209Gly) c.10A>G (p.Ser4Gly) c.523A>G (p.Ser175Gly) | |
1 | g.8325943A>T | CA338162558 | SLC45A1 | c.616A>T (p.Ser206Cys) c.718A>T (p.Ser240Cys) c.625A>T (p.Ser209Cys) c.10A>T (p.Ser4Cys) c.523A>T (p.Ser175Cys) | |
1 | g.8325944G>A | CA338162560 | SLC45A1 | c.617G>A (p.Ser206Asn) c.719G>A (p.Ser240Asn) c.626G>A (p.Ser209Asn) c.11G>A (p.Ser4Asn) c.524G>A (p.Ser175Asn) | |
1 | g.8325944G>C | CA338162561 | SLC45A1 | c.617G>C (p.Ser206Thr) c.719G>C (p.Ser240Thr) c.626G>C (p.Ser209Thr) c.11G>C (p.Ser4Thr) c.524G>C (p.Ser175Thr) | |
1 | g.8325944G>T | CA338162562 | SLC45A1 | c.617G>T (p.Ser206Ile) c.719G>T (p.Ser240Ile) c.626G>T (p.Ser209Ile) c.11G>T (p.Ser4Ile) c.524G>T (p.Ser175Ile) | |
1 | g.8325945C>A | CA338162566 | SLC45A1 | c.618C>A (p.Ser206Arg) c.720C>A (p.Ser240Arg) c.627C>A (p.Ser209Arg) c.12C>A (p.Ser4Arg) c.525C>A (p.Ser175Arg) | gnomAD v4 COSMIC COSMIC |
1 | g.8325945C= | CA1152270614 | SLC45A1 | c.618C= (p.Ser206=) c.720C= (p.Ser240=) c.627C= (p.Ser209=) c.12C= (p.Ser4=) c.525C= (p.Ser175=) | |
1 | g.8325945C>G | CA338162565 | SLC45A1 | c.618C>G (p.Ser206Arg) c.720C>G (p.Ser240Arg) c.627C>G (p.Ser209Arg) c.12C>G (p.Ser4Arg) c.525C>G (p.Ser175Arg) | |
1 | g.8325945C>T | CA570141 | SLC45A1 | c.618C>T (p.Ser206=) c.720C>T (p.Ser240=) c.627C>T (p.Ser209=) c.12C>T (p.Ser4=) c.525C>T (p.Ser175=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325946G>A | CA570143 | SLC45A1 | c.619G>A (p.Ala207Thr) c.721G>A (p.Ala241Thr) c.628G>A (p.Ala210Thr) c.13G>A (p.Ala5Thr) c.526G>A (p.Ala176Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325946G>C | CA570142 | SLC45A1 | c.619G>C (p.Ala207Pro) c.721G>C (p.Ala241Pro) c.628G>C (p.Ala210Pro) c.13G>C (p.Ala5Pro) c.526G>C (p.Ala176Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325946G= | CA1141923977 | SLC45A1 | c.619G= (p.Ala207=) c.721G= (p.Ala241=) c.628G= (p.Ala210=) c.13G= (p.Ala5=) c.526G= (p.Ala176=) | |
1 | g.8325946G>T | CA338162568 | SLC45A1 | c.619G>T (p.Ala207Ser) c.721G>T (p.Ala241Ser) c.628G>T (p.Ala210Ser) c.13G>T (p.Ala5Ser) c.526G>T (p.Ala176Ser) | |
1 | g.8325947C>A | CA338162569 | SLC45A1 | c.620C>A (p.Ala207Asp) c.722C>A (p.Ala241Asp) c.629C>A (p.Ala210Asp) c.14C>A (p.Ala5Asp) c.527C>A (p.Ala176Asp) | |
1 | g.8325947C= | CA1142184117 | SLC45A1 | c.620C= (p.Ala207=) c.722C= (p.Ala241=) c.629C= (p.Ala210=) c.14C= (p.Ala5=) c.527C= (p.Ala176=) | |
1 | g.8325947C>G | CA338162571 | SLC45A1 | c.620C>G (p.Ala207Gly) c.722C>G (p.Ala241Gly) c.629C>G (p.Ala210Gly) c.14C>G (p.Ala5Gly) c.527C>G (p.Ala176Gly) | |
1 | g.8325947C>T | CA570144 | SLC45A1 | c.620C>T (p.Ala207Val) c.722C>T (p.Ala241Val) c.629C>T (p.Ala210Val) c.14C>T (p.Ala5Val) c.527C>T (p.Ala176Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325948C>A | CA415835844 | SLC45A1 | c.621C>A (p.Ala207=) c.723C>A (p.Ala241=) c.630C>A (p.Ala210=) c.15C>A (p.Ala5=) c.528C>A (p.Ala176=) | |
1 | g.8325948C= | CA1152270624 | SLC45A1 | c.621C= (p.Ala207=) c.723C= (p.Ala241=) c.630C= (p.Ala210=) c.15C= (p.Ala5=) c.528C= (p.Ala176=) | |
1 | g.8325948C>G | CA415835845 | SLC45A1 | c.621C>G (p.Ala207=) c.723C>G (p.Ala241=) c.630C>G (p.Ala210=) c.15C>G (p.Ala5=) c.528C>G (p.Ala176=) | |
1 | g.8325948C>T | CA17660017 | SLC45A1 | c.621C>T (p.Ala207=) c.723C>T (p.Ala241=) c.630C>T (p.Ala210=) c.15C>T (p.Ala5=) c.528C>T (p.Ala176=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325949G>A | CA570145 | SLC45A1 | c.622G>A (p.Asp208Asn) c.724G>A (p.Asp242Asn) c.631G>A (p.Asp211Asn) c.16G>A (p.Asp6Asn) c.529G>A (p.Asp177Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325949G>C | CA338162575 | SLC45A1 | c.622G>C (p.Asp208His) c.724G>C (p.Asp242His) c.631G>C (p.Asp211His) c.16G>C (p.Asp6His) c.529G>C (p.Asp177His) | gnomAD v4 |
1 | g.8325949G= | CA1152270629 | SLC45A1 | c.622G= (p.Asp208=) c.724G= (p.Asp242=) c.631G= (p.Asp211=) c.16G= (p.Asp6=) c.529G= (p.Asp177=) | |
1 | g.8325949G>T | CA338162576 | SLC45A1 | c.622G>T (p.Asp208Tyr) c.724G>T (p.Asp242Tyr) c.631G>T (p.Asp211Tyr) c.16G>T (p.Asp6Tyr) c.529G>T (p.Asp177Tyr) | |
1 | g.8325950A>C | CA338162578 | SLC45A1 | c.623A>C (p.Asp208Ala) c.725A>C (p.Asp242Ala) c.632A>C (p.Asp211Ala) c.17A>C (p.Asp6Ala) c.530A>C (p.Asp177Ala) | |
1 | g.8325950A>G | CA338162579 | SLC45A1 | c.623A>G (p.Asp208Gly) c.725A>G (p.Asp242Gly) c.632A>G (p.Asp211Gly) c.17A>G (p.Asp6Gly) c.530A>G (p.Asp177Gly) | gnomAD v4 |
1 | g.8325950A>T | CA338162581 | SLC45A1 | c.623A>T (p.Asp208Val) c.725A>T (p.Asp242Val) c.632A>T (p.Asp211Val) c.17A>T (p.Asp6Val) c.530A>T (p.Asp177Val) | |
1 | g.8325951C>A | CA338162583 | SLC45A1 | c.624C>A (p.Asp208Glu) c.726C>A (p.Asp242Glu) c.633C>A (p.Asp211Glu) c.18C>A (p.Asp6Glu) c.531C>A (p.Asp177Glu) | |
1 | g.8325951C>G | CA338162584 | SLC45A1 | c.624C>G (p.Asp208Glu) c.726C>G (p.Asp242Glu) c.633C>G (p.Asp211Glu) c.18C>G (p.Asp6Glu) c.531C>G (p.Asp177Glu) | |
1 | g.8325951C>T | CA415835849 | SLC45A1 | c.624C>T (p.Asp208=) c.726C>T (p.Asp242=) c.633C>T (p.Asp211=) c.18C>T (p.Asp6=) c.531C>T (p.Asp177=) | |
1 | g.8325952T>A | CA338162587 | SLC45A1 | c.625T>A (p.Ser209Thr) c.727T>A (p.Ser243Thr) c.634T>A (p.Ser212Thr) c.19T>A (p.Ser7Thr) c.532T>A (p.Ser178Thr) | |
1 | g.8325952T>C | CA338162589 | SLC45A1 | c.625T>C (p.Ser209Pro) c.727T>C (p.Ser243Pro) c.634T>C (p.Ser212Pro) c.19T>C (p.Ser7Pro) c.532T>C (p.Ser178Pro) | |
1 | g.8325952T>G | CA338162585 | SLC45A1 | c.625T>G (p.Ser209Ala) c.727T>G (p.Ser243Ala) c.634T>G (p.Ser212Ala) c.19T>G (p.Ser7Ala) c.532T>G (p.Ser178Ala) | |
1 | g.8325953C>A | CA338162591 | SLC45A1 | c.626C>A (p.Ser209Ter) c.728C>A (p.Ser243Ter) c.635C>A (p.Ser212Ter) c.20C>A (p.Ser7Ter) c.533C>A (p.Ser178Ter) | dbSNP gnomAD v4 |
1 | g.8325953C= | CA1148436662 | SLC45A1 | c.626C= (p.Ser209=) c.728C= (p.Ser243=) c.635C= (p.Ser212=) c.20C= (p.Ser7=) c.533C= (p.Ser178=) | |
1 | g.8325953C>G | CA338162593 | SLC45A1 | c.626C>G (p.Ser209Trp) c.728C>G (p.Ser243Trp) c.635C>G (p.Ser212Trp) c.20C>G (p.Ser7Trp) c.533C>G (p.Ser178Trp) | |
1 | g.8325953C>T | CA570146 | SLC45A1 | c.626C>T (p.Ser209Leu) c.728C>T (p.Ser243Leu) c.635C>T (p.Ser212Leu) c.20C>T (p.Ser7Leu) c.533C>T (p.Ser178Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325954G>A | CA17660021 | SLC45A1 | c.627G>A (p.Ser209=) c.729G>A (p.Ser243=) c.636G>A (p.Ser212=) c.21G>A (p.Ser7=) c.534G>A (p.Ser178=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325954G>C | CA570147 | SLC45A1 | c.627G>C (p.Ser209=) c.729G>C (p.Ser243=) c.636G>C (p.Ser212=) c.21G>C (p.Ser7=) c.534G>C (p.Ser178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325954G= | CA1144083134 | SLC45A1 | c.627G= (p.Ser209=) c.729G= (p.Ser243=) c.636G= (p.Ser212=) c.21G= (p.Ser7=) c.534G= (p.Ser178=) | |
1 | g.8325954G>T | CA415835855 | SLC45A1 | c.627G>T (p.Ser209=) c.729G>T (p.Ser243=) c.636G>T (p.Ser212=) c.21G>T (p.Ser7=) c.534G>T (p.Ser178=) | |
1 | g.8325955G>A | CA338162596 | SLC45A1 | c.628G>A (p.Ala210Thr) c.730G>A (p.Ala244Thr) c.637G>A (p.Ala213Thr) c.22G>A (p.Ala8Thr) c.535G>A (p.Ala179Thr) | |
1 | g.8325955G>C | CA338162598 | SLC45A1 | c.628G>C (p.Ala210Pro) c.730G>C (p.Ala244Pro) c.637G>C (p.Ala213Pro) c.22G>C (p.Ala8Pro) c.535G>C (p.Ala179Pro) | |
1 | g.8325955G>T | CA338162600 | SLC45A1 | c.628G>T (p.Ala210Ser) c.730G>T (p.Ala244Ser) c.637G>T (p.Ala213Ser) c.22G>T (p.Ala8Ser) c.535G>T (p.Ala179Ser) | |
1 | g.8325956C>A | CA338162602 | SLC45A1 | c.629C>A (p.Ala210Glu) c.731C>A (p.Ala244Glu) c.638C>A (p.Ala213Glu) c.23C>A (p.Ala8Glu) c.536C>A (p.Ala179Glu) | |
1 | g.8325956C= | CA1142370835 | SLC45A1 | c.629C= (p.Ala210=) c.731C= (p.Ala244=) c.638C= (p.Ala213=) c.23C= (p.Ala8=) c.536C= (p.Ala179=) | |
1 | g.8325956C>G | CA338162604 | SLC45A1 | c.629C>G (p.Ala210Gly) c.731C>G (p.Ala244Gly) c.638C>G (p.Ala213Gly) c.23C>G (p.Ala8Gly) c.536C>G (p.Ala179Gly) | |
1 | g.8325956C>T | CA570148 | SLC45A1 | c.629C>T (p.Ala210Val) c.731C>T (p.Ala244Val) c.638C>T (p.Ala213Val) c.23C>T (p.Ala8Val) c.536C>T (p.Ala179Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325957G>A | CA570149 | SLC45A1 | c.630G>A (p.Ala210=) c.732G>A (p.Ala244=) c.639G>A (p.Ala213=) c.24G>A (p.Ala8=) c.537G>A (p.Ala179=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325957G>C | CA415835864 | SLC45A1 | c.630G>C (p.Ala210=) c.732G>C (p.Ala244=) c.639G>C (p.Ala213=) c.24G>C (p.Ala8=) c.537G>C (p.Ala179=) | |
1 | g.8325957G= | CA1140725578 | SLC45A1 | c.630G= (p.Ala210=) c.732G= (p.Ala244=) c.639G= (p.Ala213=) c.24G= (p.Ala8=) c.537G= (p.Ala179=) | |
1 | g.8325957G>T | CA415835863 | SLC45A1 | c.630G>T (p.Ala210=) c.732G>T (p.Ala244=) c.639G>T (p.Ala213=) c.24G>T (p.Ala8=) c.537G>T (p.Ala179=) | |
1 | g.8325958G>A | CA338162610 | SLC45A1 | c.631G>A (p.Asp211Asn) c.733G>A (p.Asp245Asn) c.640G>A (p.Asp214Asn) c.25G>A (p.Asp9Asn) c.538G>A (p.Asp180Asn) | COSMIC COSMIC |
1 | g.8325958G>C | CA338162612 | SLC45A1 | c.631G>C (p.Asp211His) c.733G>C (p.Asp245His) c.640G>C (p.Asp214His) c.25G>C (p.Asp9His) c.538G>C (p.Asp180His) | |
1 | g.8325958G>T | CA338162608 | SLC45A1 | c.631G>T (p.Asp211Tyr) c.733G>T (p.Asp245Tyr) c.640G>T (p.Asp214Tyr) c.25G>T (p.Asp9Tyr) c.538G>T (p.Asp180Tyr) | |
1 | g.8325959A>C | CA338162613 | SLC45A1 | c.632A>C (p.Asp211Ala) c.734A>C (p.Asp245Ala) c.641A>C (p.Asp214Ala) c.26A>C (p.Asp9Ala) c.539A>C (p.Asp180Ala) | |
1 | g.8325959A>G | CA338162614 | SLC45A1 | c.632A>G (p.Asp211Gly) c.734A>G (p.Asp245Gly) c.641A>G (p.Asp214Gly) c.26A>G (p.Asp9Gly) c.539A>G (p.Asp180Gly) | |
1 | g.8325959A>T | CA338162616 | SLC45A1 | c.632A>T (p.Asp211Val) c.734A>T (p.Asp245Val) c.641A>T (p.Asp214Val) c.26A>T (p.Asp9Val) c.539A>T (p.Asp180Val) | |
1 | g.8325960C>A | CA338162620 | SLC45A1 | c.633C>A (p.Asp211Glu) c.735C>A (p.Asp245Glu) c.642C>A (p.Asp214Glu) c.27C>A (p.Asp9Glu) c.540C>A (p.Asp180Glu) | |
1 | g.8325960C>G | CA338162621 | SLC45A1 | c.633C>G (p.Asp211Glu) c.735C>G (p.Asp245Glu) c.642C>G (p.Asp214Glu) c.27C>G (p.Asp9Glu) c.540C>G (p.Asp180Glu) | |
1 | g.8325960C>T | CA415835866 | SLC45A1 | c.633C>T (p.Asp211=) c.735C>T (p.Asp245=) c.642C>T (p.Asp214=) c.27C>T (p.Asp9=) c.540C>T (p.Asp180=) | |
1 | g.8325961A>C | CA338162627 | SLC45A1 | c.634A>C (p.Asn212His) c.736A>C (p.Asn246His) c.643A>C (p.Asn215His) c.28A>C (p.Asn10His) c.541A>C (p.Asn181His) | |
1 | g.8325961A>G | CA338162623 | SLC45A1 | c.634A>G (p.Asn212Asp) c.736A>G (p.Asn246Asp) c.643A>G (p.Asn215Asp) c.28A>G (p.Asn10Asp) c.541A>G (p.Asn181Asp) | |
1 | g.8325961A>T | CA338162625 | SLC45A1 | c.634A>T (p.Asn212Tyr) c.736A>T (p.Asn246Tyr) c.643A>T (p.Asn215Tyr) c.28A>T (p.Asn10Tyr) c.541A>T (p.Asn181Tyr) | |
1 | g.8325962A= | CA1152270645 | SLC45A1 | c.635A= (p.Asn212=) c.737A= (p.Asn246=) c.644A= (p.Asn215=) c.29A= (p.Asn10=) c.542A= (p.Asn181=) | |
1 | g.8325962A>C | CA338162630 | SLC45A1 | c.635A>C (p.Asn212Thr) c.737A>C (p.Asn246Thr) c.644A>C (p.Asn215Thr) c.29A>C (p.Asn10Thr) c.542A>C (p.Asn181Thr) | dbSNP gnomAD v2 |
1 | g.8325962A>G | CA338162631 | SLC45A1 | c.635A>G (p.Asn212Ser) c.737A>G (p.Asn246Ser) c.644A>G (p.Asn215Ser) c.29A>G (p.Asn10Ser) c.542A>G (p.Asn181Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8325962A>T | CA338162632 | SLC45A1 | c.635A>T (p.Asn212Ile) c.737A>T (p.Asn246Ile) c.644A>T (p.Asn215Ile) c.29A>T (p.Asn10Ile) c.542A>T (p.Asn181Ile) | |
1 | g.8325963C>A | CA338162634 | SLC45A1 | c.636C>A (p.Asn212Lys) c.738C>A (p.Asn246Lys) c.645C>A (p.Asn215Lys) c.30C>A (p.Asn10Lys) c.543C>A (p.Asn181Lys) | |
1 | g.8325963C>G | CA338162636 | SLC45A1 | c.636C>G (p.Asn212Lys) c.738C>G (p.Asn246Lys) c.645C>G (p.Asn215Lys) c.30C>G (p.Asn10Lys) c.543C>G (p.Asn181Lys) | gnomAD v4 |
1 | g.8325963C>T | CA415835872 | SLC45A1 | c.636C>T (p.Asn212=) c.738C>T (p.Asn246=) c.645C>T (p.Asn215=) c.30C>T (p.Asn10=) c.543C>T (p.Asn181=) | |
1 | g.8325966del | CA2643069219 | SLC45A1 | c.639del (p.Ser214AlafsTer5) c.741del (p.Ser248AlafsTer5) c.648del (p.Ser217AlafsTer5) c.33del (p.Ser12AlafsTer5) c.546del (p.Ser183AlafsTer5) | gnomAD v4 |
1 | g.8325964C>A | CA338162638 | SLC45A1 | c.637C>A (p.Pro213Thr) c.739C>A (p.Pro247Thr) c.646C>A (p.Pro216Thr) c.31C>A (p.Pro11Thr) c.544C>A (p.Pro182Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325964C= | CA1152270648 | SLC45A1 | c.637C= (p.Pro213=) c.739C= (p.Pro247=) c.646C= (p.Pro216=) c.31C= (p.Pro11=) c.544C= (p.Pro182=) | |
1 | g.8325964C>G | CA338162642 | SLC45A1 | c.637C>G (p.Pro213Ala) c.739C>G (p.Pro247Ala) c.646C>G (p.Pro216Ala) c.31C>G (p.Pro11Ala) c.544C>G (p.Pro182Ala) | |
1 | g.8325964C>T | CA338162640 | SLC45A1 | c.637C>T (p.Pro213Ser) c.739C>T (p.Pro247Ser) c.646C>T (p.Pro216Ser) c.31C>T (p.Pro11Ser) c.544C>T (p.Pro182Ser) | |
1 | g.8325965C>A | CA338162644 | SLC45A1 | c.638C>A (p.Pro213His) c.740C>A (p.Pro247His) c.647C>A (p.Pro216His) c.32C>A (p.Pro11His) c.545C>A (p.Pro182His) | |
1 | g.8325965C>G | CA338162646 | SLC45A1 | c.638C>G (p.Pro213Arg) c.740C>G (p.Pro247Arg) c.647C>G (p.Pro216Arg) c.32C>G (p.Pro11Arg) c.545C>G (p.Pro182Arg) | |
1 | g.8325965C>T | CA338162648 | SLC45A1 | c.638C>T (p.Pro213Leu) c.740C>T (p.Pro247Leu) c.647C>T (p.Pro216Leu) c.32C>T (p.Pro11Leu) c.545C>T (p.Pro182Leu) | |
1 | g.8325966C>A | CA415835880 | SLC45A1 | c.639C>A (p.Pro213=) c.741C>A (p.Pro247=) c.648C>A (p.Pro216=) c.33C>A (p.Pro11=) c.546C>A (p.Pro182=) | |
1 | g.8325966C>G | CA415835881 | SLC45A1 | c.639C>G (p.Pro213=) c.741C>G (p.Pro247=) c.648C>G (p.Pro216=) c.33C>G (p.Pro11=) c.546C>G (p.Pro182=) | |
1 | g.8325966C>T | CA415835882 | SLC45A1 | c.639C>T (p.Pro213=) c.741C>T (p.Pro247=) c.648C>T (p.Pro216=) c.33C>T (p.Pro11=) c.546C>T (p.Pro182=) |