Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.8325968G>A | CA338162657 | SLC45A1 | c.641G>A (p.Ser214Asn) c.743G>A (p.Ser248Asn) c.650G>A (p.Ser217Asn) c.35G>A (p.Ser12Asn) c.548G>A (p.Ser183Asn) | |
1 | g.8325968G>C | CA338162655 | SLC45A1 | c.641G>C (p.Ser214Thr) c.743G>C (p.Ser248Thr) c.650G>C (p.Ser217Thr) c.35G>C (p.Ser12Thr) c.548G>C (p.Ser183Thr) | |
1 | g.8325968G>T | CA338162656 | SLC45A1 | c.641G>T (p.Ser214Ile) c.743G>T (p.Ser248Ile) c.650G>T (p.Ser217Ile) c.35G>T (p.Ser12Ile) c.548G>T (p.Ser183Ile) | |
1 | g.8325969C>A | CA338162659 | SLC45A1 | c.642C>A (p.Ser214Arg) c.744C>A (p.Ser248Arg) c.651C>A (p.Ser217Arg) c.36C>A (p.Ser12Arg) c.549C>A (p.Ser183Arg) | |
1 | g.8325969C>G | CA338162661 | SLC45A1 | c.642C>G (p.Ser214Arg) c.744C>G (p.Ser248Arg) c.651C>G (p.Ser217Arg) c.36C>G (p.Ser12Arg) c.549C>G (p.Ser183Arg) | |
1 | g.8325969C>T | CA415835885 | SLC45A1 | c.642C>T (p.Ser214=) c.744C>T (p.Ser248=) c.651C>T (p.Ser217=) c.36C>T (p.Ser12=) c.549C>T (p.Ser183=) | gnomAD v4 |
1 | g.8325970C>A | CA570150 | SLC45A1 | c.643C>A (p.His215Asn) c.745C>A (p.His249Asn) c.652C>A (p.His218Asn) c.37C>A (p.His13Asn) c.550C>A (p.His184Asn) | dbSNP ExAC gnomAD v2 |
1 | g.8325970C= | CA1152270650 | SLC45A1 | c.643C= (p.His215=) c.745C= (p.His249=) c.652C= (p.His218=) c.37C= (p.His13=) c.550C= (p.His184=) | |
1 | g.8325970C>G | CA338162664 | SLC45A1 | c.643C>G (p.His215Asp) c.745C>G (p.His249Asp) c.652C>G (p.His218Asp) c.37C>G (p.His13Asp) c.550C>G (p.His184Asp) | |
1 | g.8325970C>T | CA338162666 | SLC45A1 | c.643C>T (p.His215Tyr) c.745C>T (p.His249Tyr) c.652C>T (p.His218Tyr) c.37C>T (p.His13Tyr) c.550C>T (p.His184Tyr) | gnomAD v4 |
1 | g.8325971A>C | CA338162672 | SLC45A1 | c.644A>C (p.His215Pro) c.746A>C (p.His249Pro) c.653A>C (p.His218Pro) c.38A>C (p.His13Pro) c.551A>C (p.His184Pro) | |
1 | g.8325971A>G | CA338162669 | SLC45A1 | c.644A>G (p.His215Arg) c.746A>G (p.His249Arg) c.653A>G (p.His218Arg) c.38A>G (p.His13Arg) c.551A>G (p.His184Arg) | |
1 | g.8325971A>T | CA338162671 | SLC45A1 | c.644A>T (p.His215Leu) c.746A>T (p.His249Leu) c.653A>T (p.His218Leu) c.38A>T (p.His13Leu) c.551A>T (p.His184Leu) | |
1 | g.8325972C>A | CA338162673 | SLC45A1 | c.645C>A (p.His215Gln) c.747C>A (p.His249Gln) c.654C>A (p.His218Gln) c.39C>A (p.His13Gln) c.552C>A (p.His184Gln) | |
1 | g.8325972C= | CA1152270653 | SLC45A1 | c.645C= (p.His215=) c.747C= (p.His249=) c.654C= (p.His218=) c.39C= (p.His13=) c.552C= (p.His184=) | |
1 | g.8325972C>G | CA338162675 | SLC45A1 | c.645C>G (p.His215Gln) c.747C>G (p.His249Gln) c.654C>G (p.His218Gln) c.39C>G (p.His13Gln) c.552C>G (p.His184Gln) | |
1 | g.8325972C>T | CA570151 | SLC45A1 | c.645C>T (p.His215=) c.747C>T (p.His249=) c.654C>T (p.His218=) c.39C>T (p.His13=) c.552C>T (p.His184=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.8325973G>A | CA570152 | SLC45A1 | c.646G>A (p.Ala216Thr) c.748G>A (p.Ala250Thr) c.655G>A (p.Ala219Thr) c.40G>A (p.Ala14Thr) c.553G>A (p.Ala185Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325973G>C | CA338162678 | SLC45A1 | c.646G>C (p.Ala216Pro) c.748G>C (p.Ala250Pro) c.655G>C (p.Ala219Pro) c.40G>C (p.Ala14Pro) c.553G>C (p.Ala185Pro) | |
1 | g.8325973G= | CA1142237751 | SLC45A1 | c.646G= (p.Ala216=) c.748G= (p.Ala250=) c.655G= (p.Ala219=) c.40G= (p.Ala14=) c.553G= (p.Ala185=) | |
1 | g.8325973G>T | CA338162681 | SLC45A1 | c.646G>T (p.Ala216Ser) c.748G>T (p.Ala250Ser) c.655G>T (p.Ala219Ser) c.40G>T (p.Ala14Ser) c.553G>T (p.Ala185Ser) | |
1 | g.8325974C>A | CA338162683 | SLC45A1 | c.647C>A (p.Ala216Asp) c.749C>A (p.Ala250Asp) c.656C>A (p.Ala219Asp) c.41C>A (p.Ala14Asp) c.554C>A (p.Ala185Asp) | |
1 | g.8325974C= | CA1152270658 | SLC45A1 | c.647C= (p.Ala216=) c.749C= (p.Ala250=) c.656C= (p.Ala219=) c.41C= (p.Ala14=) c.554C= (p.Ala185=) | |
1 | g.8325974C>G | CA338162685 | SLC45A1 | c.647C>G (p.Ala216Gly) c.749C>G (p.Ala250Gly) c.656C>G (p.Ala219Gly) c.41C>G (p.Ala14Gly) c.554C>G (p.Ala185Gly) | |
1 | g.8325974C>T | CA338162687 | SLC45A1 | c.647C>T (p.Ala216Val) c.749C>T (p.Ala250Val) c.656C>T (p.Ala219Val) c.41C>T (p.Ala14Val) c.554C>T (p.Ala185Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325975C>A | CA415835897 | SLC45A1 | c.648C>A (p.Ala216=) c.750C>A (p.Ala250=) c.657C>A (p.Ala219=) c.42C>A (p.Ala14=) c.555C>A (p.Ala185=) | |
1 | g.8325975C>G | CA415835898 | SLC45A1 | c.648C>G (p.Ala216=) c.750C>G (p.Ala250=) c.657C>G (p.Ala219=) c.42C>G (p.Ala14=) c.555C>G (p.Ala185=) | |
1 | g.8325975C>T | CA415835900 | SLC45A1 | c.648C>T (p.Ala216=) c.750C>T (p.Ala250=) c.657C>T (p.Ala219=) c.42C>T (p.Ala14=) c.555C>T (p.Ala185=) | |
1 | g.8325976T>A | CA338162688 | SLC45A1 | c.649T>A (p.Tyr217Asn) c.751T>A (p.Tyr251Asn) c.658T>A (p.Tyr220Asn) c.43T>A (p.Tyr15Asn) c.556T>A (p.Tyr186Asn) | |
1 | g.8325976T>C | CA338162690 | SLC45A1 | c.649T>C (p.Tyr217His) c.751T>C (p.Tyr251His) c.658T>C (p.Tyr220His) c.43T>C (p.Tyr15His) c.556T>C (p.Tyr186His) | |
1 | g.8325976T>G | CA338162692 | SLC45A1 | c.649T>G (p.Tyr217Asp) c.751T>G (p.Tyr251Asp) c.658T>G (p.Tyr220Asp) c.43T>G (p.Tyr15Asp) c.556T>G (p.Tyr186Asp) | |
1 | g.8325977A= | CA1152270660 | SLC45A1 | c.650A= (p.Tyr217=) c.752A= (p.Tyr251=) c.659A= (p.Tyr220=) c.44A= (p.Tyr15=) c.557A= (p.Tyr186=) | |
1 | g.8325977A>C | CA338162693 | SLC45A1 | c.650A>C (p.Tyr217Ser) c.752A>C (p.Tyr251Ser) c.659A>C (p.Tyr220Ser) c.44A>C (p.Tyr15Ser) c.557A>C (p.Tyr186Ser) | |
1 | g.8325977A>G | CA338162697 | SLC45A1 | c.650A>G (p.Tyr217Cys) c.752A>G (p.Tyr251Cys) c.659A>G (p.Tyr220Cys) c.44A>G (p.Tyr15Cys) c.557A>G (p.Tyr186Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8325977A>T | CA338162695 | SLC45A1 | c.650A>T (p.Tyr217Phe) c.752A>T (p.Tyr251Phe) c.659A>T (p.Tyr220Phe) c.44A>T (p.Tyr15Phe) c.557A>T (p.Tyr186Phe) | |
1 | g.8325978_8325979del | CA2643069220 | SLC45A1 | c.651_652del (p.Met218AspfsTer?) c.753_754del (p.Met252AspfsTer?) c.660_661del (p.Met221AspfsTer?) c.45_46del (p.Met16AspfsTer?) c.558_559del (p.Met187AspfsTer?) | gnomAD v4 |
1 | g.8325978C>A | CA338162699 | SLC45A1 | c.651C>A (p.Tyr217Ter) c.753C>A (p.Tyr251Ter) c.660C>A (p.Tyr220Ter) c.45C>A (p.Tyr15Ter) c.558C>A (p.Tyr186Ter) | |
1 | g.8325978C>G | CA338162701 | SLC45A1 | c.651C>G (p.Tyr217Ter) c.753C>G (p.Tyr251Ter) c.660C>G (p.Tyr220Ter) c.45C>G (p.Tyr15Ter) c.558C>G (p.Tyr186Ter) | dbSNP |
1 | g.8325978C>T | CA415835909 | SLC45A1 | c.651C>T (p.Tyr217=) c.753C>T (p.Tyr251=) c.660C>T (p.Tyr220=) c.45C>T (p.Tyr15=) c.558C>T (p.Tyr186=) | gnomAD v4 |
1 | g.8325979A= | CA1152270663 | SLC45A1 | c.652A= (p.Met218=) c.754A= (p.Met252=) c.661A= (p.Met221=) c.46A= (p.Met16=) c.559A= (p.Met187=) | |
1 | g.8325979A>C | CA338162704 | SLC45A1 | c.652A>C (p.Met218Leu) c.754A>C (p.Met252Leu) c.661A>C (p.Met221Leu) c.46A>C (p.Met16Leu) c.559A>C (p.Met187Leu) | |
1 | g.8325979A>G | CA338162705 | SLC45A1 | c.652A>G (p.Met218Val) c.754A>G (p.Met252Val) c.661A>G (p.Met221Val) c.46A>G (p.Met16Val) c.559A>G (p.Met187Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325979A>T | CA338162706 | SLC45A1 | c.652A>T (p.Met218Leu) c.754A>T (p.Met252Leu) c.661A>T (p.Met221Leu) c.46A>T (p.Met16Leu) c.559A>T (p.Met187Leu) | |
1 | g.8325980T>A | CA338162708 | SLC45A1 | c.653T>A (p.Met218Lys) c.755T>A (p.Met252Lys) c.662T>A (p.Met221Lys) c.47T>A (p.Met16Lys) c.560T>A (p.Met187Lys) | |
1 | g.8325980T>C | CA338162710 | SLC45A1 | c.653T>C (p.Met218Thr) c.755T>C (p.Met252Thr) c.662T>C (p.Met221Thr) c.47T>C (p.Met16Thr) c.560T>C (p.Met187Thr) | gnomAD v4 |
1 | g.8325980T>G | CA570153 | SLC45A1 | c.653T>G (p.Met218Arg) c.755T>G (p.Met252Arg) c.662T>G (p.Met221Arg) c.47T>G (p.Met16Arg) c.560T>G (p.Met187Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325980T= | CA1152270667 | SLC45A1 | c.653T= (p.Met218=) c.755T= (p.Met252=) c.662T= (p.Met221=) c.47T= (p.Met16=) c.560T= (p.Met187=) | |
1 | g.8325981G>A | CA338162712 | SLC45A1 | c.654G>A (p.Met218Ile) c.756G>A (p.Met252Ile) c.663G>A (p.Met221Ile) c.48G>A (p.Met16Ile) c.561G>A (p.Met187Ile) | |
1 | g.8325981G>C | CA338162715 | SLC45A1 | c.654G>C (p.Met218Ile) c.756G>C (p.Met252Ile) c.663G>C (p.Met221Ile) c.48G>C (p.Met16Ile) c.561G>C (p.Met187Ile) | |
1 | g.8325981G= | CA1152270670 | SLC45A1 | c.654G= (p.Met218=) c.756G= (p.Met252=) c.663G= (p.Met221=) c.48G= (p.Met16=) c.561G= (p.Met187=) | |
1 | g.8325981G>T | CA570154 | SLC45A1 | c.654G>T (p.Met218Ile) c.756G>T (p.Met252Ile) c.663G>T (p.Met221Ile) c.48G>T (p.Met16Ile) c.561G>T (p.Met187Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325982A>C | CA338162721 | SLC45A1 | c.655A>C (p.Met219Leu) c.757A>C (p.Met253Leu) c.664A>C (p.Met222Leu) c.49A>C (p.Met17Leu) c.562A>C (p.Met188Leu) | |
1 | g.8325982A>G | CA338162719 | SLC45A1 | c.655A>G (p.Met219Val) c.757A>G (p.Met253Val) c.664A>G (p.Met222Val) c.49A>G (p.Met17Val) c.562A>G (p.Met188Val) | |
1 | g.8325982A>T | CA338162718 | SLC45A1 | c.655A>T (p.Met219Leu) c.757A>T (p.Met253Leu) c.664A>T (p.Met222Leu) c.49A>T (p.Met17Leu) c.562A>T (p.Met188Leu) | |
1 | g.8325983T>A | CA338162722 | SLC45A1 | c.656T>A (p.Met219Lys) c.758T>A (p.Met253Lys) c.665T>A (p.Met222Lys) c.50T>A (p.Met17Lys) c.563T>A (p.Met188Lys) | |
1 | g.8325983T>C | CA338162723 | SLC45A1 | c.656T>C (p.Met219Thr) c.758T>C (p.Met253Thr) c.665T>C (p.Met222Thr) c.50T>C (p.Met17Thr) c.563T>C (p.Met188Thr) | gnomAD v4 |
1 | g.8325983T>G | CA338162724 | SLC45A1 | c.656T>G (p.Met219Arg) c.758T>G (p.Met253Arg) c.665T>G (p.Met222Arg) c.50T>G (p.Met17Arg) c.563T>G (p.Met188Arg) | |
1 | g.8325984G>A | CA338162725 | SLC45A1 | c.657G>A (p.Met219Ile) c.759G>A (p.Met253Ile) c.666G>A (p.Met222Ile) c.51G>A (p.Met17Ile) c.564G>A (p.Met188Ile) | |
1 | g.8325984G>C | CA338162726 | SLC45A1 | c.657G>C (p.Met219Ile) c.759G>C (p.Met253Ile) c.666G>C (p.Met222Ile) c.51G>C (p.Met17Ile) c.564G>C (p.Met188Ile) | |
1 | g.8325984G>T | CA338162727 | SLC45A1 | c.657G>T (p.Met219Ile) c.759G>T (p.Met253Ile) c.666G>T (p.Met222Ile) c.51G>T (p.Met17Ile) c.564G>T (p.Met188Ile) | gnomAD v4 |
1 | g.8325985G>A | CA338162728 | SLC45A1 | c.658G>A (p.Asp220Asn) c.760G>A (p.Asp254Asn) c.667G>A (p.Asp223Asn) c.52G>A (p.Asp18Asn) c.565G>A (p.Asp189Asn) | COSMIC COSMIC |
1 | g.8325985G>C | CA338162729 | SLC45A1 | c.658G>C (p.Asp220His) c.760G>C (p.Asp254His) c.667G>C (p.Asp223His) c.52G>C (p.Asp18His) c.565G>C (p.Asp189His) | |
1 | g.8325985G>T | CA338162731 | SLC45A1 | c.658G>T (p.Asp220Tyr) c.760G>T (p.Asp254Tyr) c.667G>T (p.Asp223Tyr) c.52G>T (p.Asp18Tyr) c.565G>T (p.Asp189Tyr) | |
1 | g.8325986A>C | CA338162733 | SLC45A1 | c.659A>C (p.Asp220Ala) c.761A>C (p.Asp254Ala) c.668A>C (p.Asp223Ala) c.53A>C (p.Asp18Ala) c.566A>C (p.Asp189Ala) | |
1 | g.8325986A>G | CA338162734 | SLC45A1 | c.659A>G (p.Asp220Gly) c.761A>G (p.Asp254Gly) c.668A>G (p.Asp223Gly) c.53A>G (p.Asp18Gly) c.566A>G (p.Asp189Gly) | |
1 | g.8325986A>T | CA338162735 | SLC45A1 | c.659A>T (p.Asp220Val) c.761A>T (p.Asp254Val) c.668A>T (p.Asp223Val) c.53A>T (p.Asp18Val) c.566A>T (p.Asp189Val) | |
1 | g.8325987C>A | CA338162741 | SLC45A1 | c.660C>A (p.Asp220Glu) c.762C>A (p.Asp254Glu) c.669C>A (p.Asp223Glu) c.54C>A (p.Asp18Glu) c.567C>A (p.Asp189Glu) | |
1 | g.8325987C= | CA1141974618 | SLC45A1 | c.660C= (p.Asp220=) c.762C= (p.Asp254=) c.669C= (p.Asp223=) c.54C= (p.Asp18=) c.567C= (p.Asp189=) | |
1 | g.8325987C>G | CA338162739 | SLC45A1 | c.660C>G (p.Asp220Glu) c.762C>G (p.Asp254Glu) c.669C>G (p.Asp223Glu) c.54C>G (p.Asp18Glu) c.567C>G (p.Asp189Glu) | |
1 | g.8325987C>T | CA570155 | SLC45A1 | c.660C>T (p.Asp220=) c.762C>T (p.Asp254=) c.669C>T (p.Asp223=) c.54C>T (p.Asp18=) c.567C>T (p.Asp189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8325988G>A | CA570156 | SLC45A1 | c.661G>A (p.Val221Met) c.763G>A (p.Val255Met) c.670G>A (p.Val224Met) c.55G>A (p.Val19Met) c.568G>A (p.Val190Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325988G>C | CA338162744 | SLC45A1 | c.661G>C (p.Val221Leu) c.763G>C (p.Val255Leu) c.670G>C (p.Val224Leu) c.55G>C (p.Val19Leu) c.568G>C (p.Val190Leu) | gnomAD v4 |
1 | g.8325988G= | CA1152270681 | SLC45A1 | c.661G= (p.Val221=) c.763G= (p.Val255=) c.670G= (p.Val224=) c.55G= (p.Val19=) c.568G= (p.Val190=) | |
1 | g.8325988G>T | CA570157 | SLC45A1 | c.661G>T (p.Val221Leu) c.763G>T (p.Val255Leu) c.670G>T (p.Val224Leu) c.55G>T (p.Val19Leu) c.568G>T (p.Val190Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325989T>A | CA338162745 | SLC45A1 | c.662T>A (p.Val221Glu) c.764T>A (p.Val255Glu) c.671T>A (p.Val224Glu) c.56T>A (p.Val19Glu) c.569T>A (p.Val190Glu) | |
1 | g.8325989T>C | CA338162747 | SLC45A1 | c.662T>C (p.Val221Ala) c.764T>C (p.Val255Ala) c.671T>C (p.Val224Ala) c.56T>C (p.Val19Ala) c.569T>C (p.Val190Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8325989T>G | CA338162746 | SLC45A1 | c.662T>G (p.Val221Gly) c.764T>G (p.Val255Gly) c.671T>G (p.Val224Gly) c.56T>G (p.Val19Gly) c.569T>G (p.Val190Gly) | |
1 | g.8325989T= | CA1152270683 | SLC45A1 | c.662T= (p.Val221=) c.764T= (p.Val255=) c.671T= (p.Val224=) c.56T= (p.Val19=) c.569T= (p.Val190=) | |
1 | g.8325990G>A | CA415835922 | SLC45A1 | c.663G>A (p.Val221=) c.765G>A (p.Val255=) c.672G>A (p.Val224=) c.57G>A (p.Val19=) c.570G>A (p.Val190=) | |
1 | g.8325990G>C | CA415835923 | SLC45A1 | c.663G>C (p.Val221=) c.765G>C (p.Val255=) c.672G>C (p.Val224=) c.57G>C (p.Val19=) c.570G>C (p.Val190=) | |
1 | g.8325990G>T | CA415835924 | SLC45A1 | c.663G>T (p.Val221=) c.765G>T (p.Val255=) c.672G>T (p.Val224=) c.57G>T (p.Val19=) c.570G>T (p.Val190=) | gnomAD v4 |
1 | g.8325991T>A | CA338162748 | SLC45A1 | c.664T>A (p.Cys222Ser) c.766T>A (p.Cys256Ser) c.673T>A (p.Cys225Ser) c.58T>A (p.Cys20Ser) c.571T>A (p.Cys191Ser) | |
1 | g.8325991T>C | CA338162749 | SLC45A1 | c.664T>C (p.Cys222Arg) c.766T>C (p.Cys256Arg) c.673T>C (p.Cys225Arg) c.58T>C (p.Cys20Arg) c.571T>C (p.Cys191Arg) | |
1 | g.8325991T>G | CA338162750 | SLC45A1 | c.664T>G (p.Cys222Gly) c.766T>G (p.Cys256Gly) c.673T>G (p.Cys225Gly) c.58T>G (p.Cys20Gly) c.571T>G (p.Cys191Gly) | |
1 | g.8325992G>A | CA338162751 | SLC45A1 | c.665G>A (p.Cys222Tyr) c.767G>A (p.Cys256Tyr) c.674G>A (p.Cys225Tyr) c.59G>A (p.Cys20Tyr) c.572G>A (p.Cys191Tyr) | |
1 | g.8325992G>C | CA338162752 | SLC45A1 | c.665G>C (p.Cys222Ser) c.767G>C (p.Cys256Ser) c.674G>C (p.Cys225Ser) c.59G>C (p.Cys20Ser) c.572G>C (p.Cys191Ser) | |
1 | g.8325992G>T | CA338162753 | SLC45A1 | c.665G>T (p.Cys222Phe) c.767G>T (p.Cys256Phe) c.674G>T (p.Cys225Phe) c.59G>T (p.Cys20Phe) c.572G>T (p.Cys191Phe) | gnomAD v4 |
1 | g.8325993C>A | CA338162754 | SLC45A1 | c.666C>A (p.Cys222Ter) c.768C>A (p.Cys256Ter) c.675C>A (p.Cys225Ter) c.60C>A (p.Cys20Ter) c.573C>A (p.Cys191Ter) | COSMIC |
1 | g.8325993C>G | CA338162755 | SLC45A1 | c.666C>G (p.Cys222Trp) c.768C>G (p.Cys256Trp) c.675C>G (p.Cys225Trp) c.60C>G (p.Cys20Trp) c.573C>G (p.Cys191Trp) | |
1 | g.8325993C>T | CA415835929 | SLC45A1 | c.666C>T (p.Cys222=) c.768C>T (p.Cys256=) c.675C>T (p.Cys225=) c.60C>T (p.Cys20=) c.573C>T (p.Cys191=) | gnomAD v4 |
1 | g.8325994A>C | CA338162756 | SLC45A1 | c.667A>C (p.Ser223Arg) c.769A>C (p.Ser257Arg) c.676A>C (p.Ser226Arg) c.61A>C (p.Ser21Arg) c.574A>C (p.Ser192Arg) | |
1 | g.8325994A>G | CA338162757 | SLC45A1 | c.667A>G (p.Ser223Gly) c.769A>G (p.Ser257Gly) c.676A>G (p.Ser226Gly) c.61A>G (p.Ser21Gly) c.574A>G (p.Ser192Gly) | gnomAD v4 |
1 | g.8325994A>T | CA338162758 | SLC45A1 | c.667A>T (p.Ser223Cys) c.769A>T (p.Ser257Cys) c.676A>T (p.Ser226Cys) c.61A>T (p.Ser21Cys) c.574A>T (p.Ser192Cys) | |
1 | g.8325995G>A | CA570158 | SLC45A1 | c.668G>A (p.Ser223Asn) c.770G>A (p.Ser257Asn) c.677G>A (p.Ser226Asn) c.62G>A (p.Ser21Asn) c.575G>A (p.Ser192Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8325995G>C | CA338162760 | SLC45A1 | c.668G>C (p.Ser223Thr) c.770G>C (p.Ser257Thr) c.677G>C (p.Ser226Thr) c.62G>C (p.Ser21Thr) c.575G>C (p.Ser192Thr) | |
1 | g.8325995G= | CA1152270685 | SLC45A1 | c.668G= (p.Ser223=) c.770G= (p.Ser257=) c.677G= (p.Ser226=) c.62G= (p.Ser21=) c.575G= (p.Ser192=) | |
1 | g.8325995G>T | CA338162759 | SLC45A1 | c.668G>T (p.Ser223Ile) c.770G>T (p.Ser257Ile) c.677G>T (p.Ser226Ile) c.62G>T (p.Ser21Ile) c.575G>T (p.Ser192Ile) | gnomAD v4 |
1 | g.8325996C>A | CA338162761 | SLC45A1 | c.669C>A (p.Ser223Arg) c.771C>A (p.Ser257Arg) c.678C>A (p.Ser226Arg) c.63C>A (p.Ser21Arg) c.576C>A (p.Ser192Arg) | |
1 | g.8325996C>G | CA338162762 | SLC45A1 | c.669C>G (p.Ser223Arg) c.771C>G (p.Ser257Arg) c.678C>G (p.Ser226Arg) c.63C>G (p.Ser21Arg) c.576C>G (p.Ser192Arg) | |
1 | g.8325996C>T | CA415835931 | SLC45A1 | c.669C>T (p.Ser223=) c.771C>T (p.Ser257=) c.678C>T (p.Ser226=) c.63C>T (p.Ser21=) c.576C>T (p.Ser192=) | gnomAD v4 |
1 | g.8325999del | CA2643069221 | SLC45A1 | c.672del (p.Ala225GlnfsTer7) c.774del (p.Ala259GlnfsTer7) c.681del (p.Ala228GlnfsTer7) c.66del (p.Ala23GlnfsTer7) c.579del (p.Ala194GlnfsTer7) | gnomAD v4 |
1 | g.8325997C>A | CA338162763 | SLC45A1 | c.670C>A (p.Pro224Thr) c.772C>A (p.Pro258Thr) c.679C>A (p.Pro227Thr) c.64C>A (p.Pro22Thr) c.577C>A (p.Pro193Thr) | |
1 | g.8325997C>G | CA338162764 | SLC45A1 | c.670C>G (p.Pro224Ala) c.772C>G (p.Pro258Ala) c.679C>G (p.Pro227Ala) c.64C>G (p.Pro22Ala) c.577C>G (p.Pro193Ala) | |
1 | g.8325997C>T | CA338162765 | SLC45A1 | c.670C>T (p.Pro224Ser) c.772C>T (p.Pro258Ser) c.679C>T (p.Pro227Ser) c.64C>T (p.Pro22Ser) c.577C>T (p.Pro193Ser) | gnomAD v4 |
1 | g.8325998C>A | CA338162766 | SLC45A1 | c.671C>A (p.Pro224His) c.773C>A (p.Pro258His) c.680C>A (p.Pro227His) c.65C>A (p.Pro22His) c.578C>A (p.Pro193His) | |
1 | g.8325998C>G | CA338162767 | SLC45A1 | c.671C>G (p.Pro224Arg) c.773C>G (p.Pro258Arg) c.680C>G (p.Pro227Arg) c.65C>G (p.Pro22Arg) c.578C>G (p.Pro193Arg) | |
1 | g.8325998C>T | CA338162768 | SLC45A1 | c.671C>T (p.Pro224Leu) c.773C>T (p.Pro258Leu) c.680C>T (p.Pro227Leu) c.65C>T (p.Pro22Leu) c.578C>T (p.Pro193Leu) | |
1 | g.8325999C>A | CA415835934 | SLC45A1 | c.672C>A (p.Pro224=) c.774C>A (p.Pro258=) c.681C>A (p.Pro227=) c.66C>A (p.Pro22=) c.579C>A (p.Pro193=) | gnomAD v4 |
1 | g.8325999C= | CA1143763962 | SLC45A1 | c.672C= (p.Pro224=) c.774C= (p.Pro258=) c.681C= (p.Pro227=) c.66C= (p.Pro22=) c.579C= (p.Pro193=) | |
1 | g.8325999C>G | CA415835933 | SLC45A1 | c.672C>G (p.Pro224=) c.774C>G (p.Pro258=) c.681C>G (p.Pro227=) c.66C>G (p.Pro22=) c.579C>G (p.Pro193=) | dbSNP |
1 | g.8325999C>T | CA570159 | SLC45A1 | c.672C>T (p.Pro224=) c.774C>T (p.Pro258=) c.681C>T (p.Pro227=) c.66C>T (p.Pro22=) c.579C>T (p.Pro193=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326000G>A | CA570160 | SLC45A1 | c.673G>A (p.Ala225Thr) c.775G>A (p.Ala259Thr) c.682G>A (p.Ala228Thr) c.67G>A (p.Ala23Thr) c.580G>A (p.Ala194Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.8326000G>C | CA338162769 | SLC45A1 | c.673G>C (p.Ala225Pro) c.775G>C (p.Ala259Pro) c.682G>C (p.Ala228Pro) c.67G>C (p.Ala23Pro) c.580G>C (p.Ala194Pro) | |
1 | g.8326000G= | CA1149069210 | SLC45A1 | c.673G= (p.Ala225=) c.775G= (p.Ala259=) c.682G= (p.Ala228=) c.67G= (p.Ala23=) c.580G= (p.Ala194=) | |
1 | g.8326000G>T | CA338162770 | SLC45A1 | c.673G>T (p.Ala225Ser) c.775G>T (p.Ala259Ser) c.682G>T (p.Ala228Ser) c.67G>T (p.Ala23Ser) c.580G>T (p.Ala194Ser) | gnomAD v4 |
1 | g.8326001C>A | CA338162773 | SLC45A1 | c.674C>A (p.Ala225Glu) c.776C>A (p.Ala259Glu) c.683C>A (p.Ala228Glu) c.68C>A (p.Ala23Glu) c.581C>A (p.Ala194Glu) | |
1 | g.8326001C= | CA1152270693 | SLC45A1 | c.674C= (p.Ala225=) c.776C= (p.Ala259=) c.683C= (p.Ala228=) c.68C= (p.Ala23=) c.581C= (p.Ala194=) | |
1 | g.8326001C>G | CA338162772 | SLC45A1 | c.674C>G (p.Ala225Gly) c.776C>G (p.Ala259Gly) c.683C>G (p.Ala228Gly) c.68C>G (p.Ala23Gly) c.581C>G (p.Ala194Gly) | |
1 | g.8326001C>T | CA338162771 | SLC45A1 | c.674C>T (p.Ala225Val) c.776C>T (p.Ala259Val) c.683C>T (p.Ala228Val) c.68C>T (p.Ala23Val) c.581C>T (p.Ala194Val) | gnomAD v4 |
1 | g.8326002A>C | CA415835939 | SLC45A1 | c.675A>C (p.Ala225=) c.777A>C (p.Ala259=) c.684A>C (p.Ala228=) c.69A>C (p.Ala23=) c.582A>C (p.Ala194=) | |
1 | g.8326002A>G | CA415835940 | SLC45A1 | c.675A>G (p.Ala225=) c.777A>G (p.Ala259=) c.684A>G (p.Ala228=) c.69A>G (p.Ala23=) c.582A>G (p.Ala194=) | dbSNP |
1 | g.8326002A>T | CA415835941 | SLC45A1 | c.675A>T (p.Ala225=) c.777A>T (p.Ala259=) c.684A>T (p.Ala228=) c.69A>T (p.Ala23=) c.582A>T (p.Ala194=) | |
1 | g.8326003_8326004dup | CA521020098 | SLC45A1 | c.676_677dup (p.Asp226GlufsTer7) c.778_779dup (p.Asp260GlufsTer7) c.685_686dup (p.Asp229GlufsTer7) c.70_71dup (p.Asp24GlufsTer7) c.583_584dup (p.Asp195GlufsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326003G>A | CA338162776 | SLC45A1 | c.676G>A (p.Asp226Asn) c.778G>A (p.Asp260Asn) c.685G>A (p.Asp229Asn) c.70G>A (p.Asp24Asn) c.583G>A (p.Asp195Asn) | |
1 | g.8326003G>C | CA338162774 | SLC45A1 | c.676G>C (p.Asp226His) c.778G>C (p.Asp260His) c.685G>C (p.Asp229His) c.70G>C (p.Asp24His) c.583G>C (p.Asp195His) | gnomAD v4 |
1 | g.8326003G>T | CA338162775 | SLC45A1 | c.676G>T (p.Asp226Tyr) c.778G>T (p.Asp260Tyr) c.685G>T (p.Asp229Tyr) c.70G>T (p.Asp24Tyr) c.583G>T (p.Asp195Tyr) | gnomAD v4 |
1 | g.8326004A>C | CA338162777 | SLC45A1 | c.677A>C (p.Asp226Ala) c.779A>C (p.Asp260Ala) c.686A>C (p.Asp229Ala) c.71A>C (p.Asp24Ala) c.584A>C (p.Asp195Ala) | |
1 | g.8326004A>G | CA338162778 | SLC45A1 | c.677A>G (p.Asp226Gly) c.779A>G (p.Asp260Gly) c.686A>G (p.Asp229Gly) c.71A>G (p.Asp24Gly) c.584A>G (p.Asp195Gly) | |
1 | g.8326004A>T | CA338162779 | SLC45A1 | c.677A>T (p.Asp226Val) c.779A>T (p.Asp260Val) c.686A>T (p.Asp229Val) c.71A>T (p.Asp24Val) c.584A>T (p.Asp195Val) | gnomAD v4 |
1 | g.8326005C>A | CA338162780 | SLC45A1 | c.678C>A (p.Asp226Glu) c.780C>A (p.Asp260Glu) c.687C>A (p.Asp229Glu) c.72C>A (p.Asp24Glu) c.585C>A (p.Asp195Glu) | gnomAD v4 |
1 | g.8326005C= | CA1152270694 | SLC45A1 | c.678C= (p.Asp226=) c.780C= (p.Asp260=) c.687C= (p.Asp229=) c.72C= (p.Asp24=) c.585C= (p.Asp195=) | |
1 | g.8326005C>G | CA338162782 | SLC45A1 | c.678C>G (p.Asp226Glu) c.780C>G (p.Asp260Glu) c.687C>G (p.Asp229Glu) c.72C>G (p.Asp24Glu) c.585C>G (p.Asp195Glu) | |
1 | g.8326005C>T | CA570161 | SLC45A1 | c.678C>T (p.Asp226=) c.780C>T (p.Asp260=) c.687C>T (p.Asp229=) c.72C>T (p.Asp24=) c.585C>T (p.Asp195=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326006C>A | CA338162785 | SLC45A1 | c.679C>A (p.Gln227Lys) c.781C>A (p.Gln261Lys) c.688C>A (p.Gln230Lys) c.73C>A (p.Gln25Lys) c.586C>A (p.Gln196Lys) | |
1 | g.8326006C>G | CA338162786 | SLC45A1 | c.679C>G (p.Gln227Glu) c.781C>G (p.Gln261Glu) c.688C>G (p.Gln230Glu) c.73C>G (p.Gln25Glu) c.586C>G (p.Gln196Glu) | |
1 | g.8326006C>T | CA338162787 | SLC45A1 | c.679C>T (p.Gln227Ter) c.781C>T (p.Gln261Ter) c.688C>T (p.Gln230Ter) c.73C>T (p.Gln25Ter) c.586C>T (p.Gln196Ter) | |
1 | g.8326007A>C | CA338162790 | SLC45A1 | c.680A>C (p.Gln227Pro) c.782A>C (p.Gln261Pro) c.689A>C (p.Gln230Pro) c.74A>C (p.Gln25Pro) c.587A>C (p.Gln196Pro) | |
1 | g.8326007A>G | CA338162792 | SLC45A1 | c.680A>G (p.Gln227Arg) c.782A>G (p.Gln261Arg) c.689A>G (p.Gln230Arg) c.74A>G (p.Gln25Arg) c.587A>G (p.Gln196Arg) | gnomAD v4 |
1 | g.8326007A>T | CA338162793 | SLC45A1 | c.680A>T (p.Gln227Leu) c.782A>T (p.Gln261Leu) c.689A>T (p.Gln230Leu) c.74A>T (p.Gln25Leu) c.587A>T (p.Gln196Leu) | |
1 | g.8326007_8326010del | CA2643069222 | SLC45A1 | c.680_683del (p.Gln227ProfsTer4) c.782_785del (p.Gln261ProfsTer4) c.689_692del (p.Gln230ProfsTer4) c.74_77del (p.Gln25ProfsTer4) c.587_590del (p.Gln196ProfsTer4) | gnomAD v4 |
1 | g.8326008G>A | CA415835945 | SLC45A1 | c.681G>A (p.Gln227=) c.783G>A (p.Gln261=) c.690G>A (p.Gln230=) c.75G>A (p.Gln25=) c.588G>A (p.Gln196=) | gnomAD v4 |
1 | g.8326008G>C | CA338162795 | SLC45A1 | c.681G>C (p.Gln227His) c.783G>C (p.Gln261His) c.690G>C (p.Gln230His) c.75G>C (p.Gln25His) c.588G>C (p.Gln196His) | |
1 | g.8326008G>T | CA338162797 | SLC45A1 | c.681G>T (p.Gln227His) c.783G>T (p.Gln261His) c.690G>T (p.Gln230His) c.75G>T (p.Gln25His) c.588G>T (p.Gln196His) | gnomAD v4 |
1 | g.8326009G>A | CA338162799 | SLC45A1 | c.682G>A (p.Asp228Asn) c.784G>A (p.Asp262Asn) c.691G>A (p.Asp231Asn) c.76G>A (p.Asp26Asn) c.589G>A (p.Asp197Asn) | |
1 | g.8326009G>C | CA570162 | SLC45A1 | c.682G>C (p.Asp228His) c.784G>C (p.Asp262His) c.691G>C (p.Asp231His) c.76G>C (p.Asp26His) c.589G>C (p.Asp197His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326009G= | CA1152270697 | SLC45A1 | c.682G= (p.Asp228=) c.784G= (p.Asp262=) c.691G= (p.Asp231=) c.76G= (p.Asp26=) c.589G= (p.Asp197=) | |
1 | g.8326009G>T | CA338162802 | SLC45A1 | c.682G>T (p.Asp228Tyr) c.784G>T (p.Asp262Tyr) c.691G>T (p.Asp231Tyr) c.76G>T (p.Asp26Tyr) c.589G>T (p.Asp197Tyr) | gnomAD v4 |
1 | g.8326010A>C | CA338162803 | SLC45A1 | c.683A>C (p.Asp228Ala) c.785A>C (p.Asp262Ala) c.692A>C (p.Asp231Ala) c.77A>C (p.Asp26Ala) c.590A>C (p.Asp197Ala) | gnomAD v4 |
1 | g.8326010A>G | CA338162805 | SLC45A1 | c.683A>G (p.Asp228Gly) c.785A>G (p.Asp262Gly) c.692A>G (p.Asp231Gly) c.77A>G (p.Asp26Gly) c.590A>G (p.Asp197Gly) | |
1 | g.8326010A>T | CA338162807 | SLC45A1 | c.683A>T (p.Asp228Val) c.785A>T (p.Asp262Val) c.692A>T (p.Asp231Val) c.77A>T (p.Asp26Val) c.590A>T (p.Asp197Val) | |
1 | g.8326011C>A | CA338162808 | SLC45A1 | c.684C>A (p.Asp228Glu) c.786C>A (p.Asp262Glu) c.693C>A (p.Asp231Glu) c.78C>A (p.Asp26Glu) c.591C>A (p.Asp197Glu) | |
1 | g.8326011C= | CA1152270699 | SLC45A1 | c.684C= (p.Asp228=) c.786C= (p.Asp262=) c.693C= (p.Asp231=) c.78C= (p.Asp26=) c.591C= (p.Asp197=) | |
1 | g.8326011C>G | CA338162810 | SLC45A1 | c.684C>G (p.Asp228Glu) c.786C>G (p.Asp262Glu) c.693C>G (p.Asp231Glu) c.78C>G (p.Asp26Glu) c.591C>G (p.Asp197Glu) | |
1 | g.8326011C>T | CA415835946 | SLC45A1 | c.684C>T (p.Asp228=) c.786C>T (p.Asp262=) c.693C>T (p.Asp231=) c.78C>T (p.Asp26=) c.591C>T (p.Asp197=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8326012C>A | CA415835947 | SLC45A1 | c.685C>A (p.Arg229=) c.787C>A (p.Arg263=) c.694C>A (p.Arg232=) c.79C>A (p.Arg27=) c.592C>A (p.Arg198=) | |
1 | g.8326012C>G | CA338162812 | SLC45A1 | c.685C>G (p.Arg229Gly) c.787C>G (p.Arg263Gly) c.694C>G (p.Arg232Gly) c.79C>G (p.Arg27Gly) c.592C>G (p.Arg198Gly) | gnomAD v4 |
1 | g.8326012C>T | CA338162814 | SLC45A1 | c.685C>T (p.Arg229Ter) c.787C>T (p.Arg263Ter) c.694C>T (p.Arg232Ter) c.79C>T (p.Arg27Ter) c.592C>T (p.Arg198Ter) | gnomAD v4 |
1 | g.8326013G>A | CA570163 | SLC45A1 | c.686G>A (p.Arg229Gln) c.788G>A (p.Arg263Gln) c.695G>A (p.Arg232Gln) c.80G>A (p.Arg27Gln) c.593G>A (p.Arg198Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326013G>C | CA338162817 | SLC45A1 | c.686G>C (p.Arg229Pro) c.788G>C (p.Arg263Pro) c.695G>C (p.Arg232Pro) c.80G>C (p.Arg27Pro) c.593G>C (p.Arg198Pro) | |
1 | g.8326013G= | CA1144003116 | SLC45A1 | c.686G= (p.Arg229=) c.788G= (p.Arg263=) c.695G= (p.Arg232=) c.80G= (p.Arg27=) c.593G= (p.Arg198=) | |
1 | g.8326013G>T | CA338162818 | SLC45A1 | c.686G>T (p.Arg229Leu) c.788G>T (p.Arg263Leu) c.695G>T (p.Arg232Leu) c.80G>T (p.Arg27Leu) c.593G>T (p.Arg198Leu) | gnomAD v4 |
1 | g.8326014A= | CA1152270707 | SLC45A1 | c.687A= (p.Arg229=) c.789A= (p.Arg263=) c.696A= (p.Arg232=) c.81A= (p.Arg27=) c.594A= (p.Arg198=) | |
1 | g.8326014A>C | CA415835950 | SLC45A1 | c.687A>C (p.Arg229=) c.789A>C (p.Arg263=) c.696A>C (p.Arg232=) c.81A>C (p.Arg27=) c.594A>C (p.Arg198=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8326014A>G | CA415835949 | SLC45A1 | c.687A>G (p.Arg229=) c.789A>G (p.Arg263=) c.696A>G (p.Arg232=) c.81A>G (p.Arg27=) c.594A>G (p.Arg198=) | |
1 | g.8326014A>T | CA415835948 | SLC45A1 | c.687A>T (p.Arg229=) c.789A>T (p.Arg263=) c.696A>T (p.Arg232=) c.81A>T (p.Arg27=) c.594A>T (p.Arg198=) | |
1 | g.8326015G>A | CA338162823 | SLC45A1 | c.688G>A (p.Gly230Ser) c.790G>A (p.Gly264Ser) c.697G>A (p.Gly233Ser) c.82G>A (p.Gly28Ser) c.595G>A (p.Gly199Ser) | dbSNP gnomAD v4 |
1 | g.8326015G>C | CA338162822 | SLC45A1 | c.688G>C (p.Gly230Arg) c.790G>C (p.Gly264Arg) c.697G>C (p.Gly233Arg) c.82G>C (p.Gly28Arg) c.595G>C (p.Gly199Arg) | |
1 | g.8326015G= | CA1152270709 | SLC45A1 | c.688G= (p.Gly230=) c.790G= (p.Gly264=) c.697G= (p.Gly233=) c.82G= (p.Gly28=) c.595G= (p.Gly199=) | |
1 | g.8326015G>T | CA338162821 | SLC45A1 | c.688G>T (p.Gly230Cys) c.790G>T (p.Gly264Cys) c.697G>T (p.Gly233Cys) c.82G>T (p.Gly28Cys) c.595G>T (p.Gly199Cys) | gnomAD v4 |
1 | g.8326016G>A | CA338162825 | SLC45A1 | c.689G>A (p.Gly230Asp) c.791G>A (p.Gly264Asp) c.698G>A (p.Gly233Asp) c.83G>A (p.Gly28Asp) c.596G>A (p.Gly199Asp) | |
1 | g.8326016G>C | CA338162827 | SLC45A1 | c.689G>C (p.Gly230Ala) c.791G>C (p.Gly264Ala) c.698G>C (p.Gly233Ala) c.83G>C (p.Gly28Ala) c.596G>C (p.Gly199Ala) | |
1 | g.8326016G>T | CA338162829 | SLC45A1 | c.689G>T (p.Gly230Val) c.791G>T (p.Gly264Val) c.698G>T (p.Gly233Val) c.83G>T (p.Gly28Val) c.596G>T (p.Gly199Val) | gnomAD v4 |
1 | g.8326017C>A | CA415835951 | SLC45A1 | c.690C>A (p.Gly230=) c.792C>A (p.Gly264=) c.699C>A (p.Gly233=) c.84C>A (p.Gly28=) c.597C>A (p.Gly199=) | gnomAD v4 |
1 | g.8326017C>G | CA415835952 | SLC45A1 | c.690C>G (p.Gly230=) c.792C>G (p.Gly264=) c.699C>G (p.Gly233=) c.84C>G (p.Gly28=) c.597C>G (p.Gly199=) | |
1 | g.8326017C>T | CA415835953 | SLC45A1 | c.690C>T (p.Gly230=) c.792C>T (p.Gly264=) c.699C>T (p.Gly233=) c.84C>T (p.Gly28=) c.597C>T (p.Gly199=) | |
1 | g.8326018C>A | CA338162831 | SLC45A1 | c.691C>A (p.Leu231Met) c.793C>A (p.Leu265Met) c.700C>A (p.Leu234Met) c.85C>A (p.Leu29Met) c.598C>A (p.Leu200Met) | |
1 | g.8326018C>G | CA338162833 | SLC45A1 | c.691C>G (p.Leu231Val) c.793C>G (p.Leu265Val) c.700C>G (p.Leu234Val) c.85C>G (p.Leu29Val) c.598C>G (p.Leu200Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8326018C>T | CA415835955 | SLC45A1 | c.691C>T (p.Leu231=) c.793C>T (p.Leu265=) c.700C>T (p.Leu234=) c.85C>T (p.Leu29=) c.598C>T (p.Leu200=) | |
1 | g.8326019T>A | CA338162835 | SLC45A1 | c.692T>A (p.Leu231Gln) c.794T>A (p.Leu265Gln) c.701T>A (p.Leu234Gln) c.86T>A (p.Leu29Gln) c.599T>A (p.Leu200Gln) | |
1 | g.8326019T>C | CA338162836 | SLC45A1 | c.692T>C (p.Leu231Pro) c.794T>C (p.Leu265Pro) c.701T>C (p.Leu234Pro) c.86T>C (p.Leu29Pro) c.599T>C (p.Leu200Pro) | gnomAD v4 |
1 | g.8326019T>G | CA338162838 | SLC45A1 | c.692T>G (p.Leu231Arg) c.794T>G (p.Leu265Arg) c.701T>G (p.Leu234Arg) c.86T>G (p.Leu29Arg) c.599T>G (p.Leu200Arg) | |
1 | g.8326020G>A | CA415835956 | SLC45A1 | c.693G>A (p.Leu231=) c.795G>A (p.Leu265=) c.702G>A (p.Leu234=) c.87G>A (p.Leu29=) c.600G>A (p.Leu200=) | |
1 | g.8326020G>C | CA415835958 | SLC45A1 | c.693G>C (p.Leu231=) c.795G>C (p.Leu265=) c.702G>C (p.Leu234=) c.87G>C (p.Leu29=) c.600G>C (p.Leu200=) | |
1 | g.8326020G>T | CA415835959 | SLC45A1 | c.693G>T (p.Leu231=) c.795G>T (p.Leu265=) c.702G>T (p.Leu234=) c.87G>T (p.Leu29=) c.600G>T (p.Leu200=) | gnomAD v4 |
1 | g.8326020_8326021del | CA2574198914 | SLC45A1 | c.693_694del (p.Asn232HisfsTer23) c.795_796del (p.Asn266HisfsTer23) c.702_703del (p.Asn235HisfsTer23) c.87_88del (p.Asn30HisfsTer23) c.600_601del (p.Asn201HisfsTer23) | |
1 | g.8326021A>C | CA338162839 | SLC45A1 | c.694A>C (p.Asn232His) c.796A>C (p.Asn266His) c.703A>C (p.Asn235His) c.88A>C (p.Asn30His) c.601A>C (p.Asn201His) | |
1 | g.8326021A>G | CA338162840 | SLC45A1 | c.694A>G (p.Asn232Asp) c.796A>G (p.Asn266Asp) c.703A>G (p.Asn235Asp) c.88A>G (p.Asn30Asp) c.601A>G (p.Asn201Asp) | |
1 | g.8326021A>T | CA338162842 | SLC45A1 | c.694A>T (p.Asn232Tyr) c.796A>T (p.Asn266Tyr) c.703A>T (p.Asn235Tyr) c.88A>T (p.Asn30Tyr) c.601A>T (p.Asn201Tyr) | |
1 | g.8326022A>C | CA338162844 | SLC45A1 | c.695A>C (p.Asn232Thr) c.797A>C (p.Asn266Thr) c.704A>C (p.Asn235Thr) c.89A>C (p.Asn30Thr) c.602A>C (p.Asn201Thr) | |
1 | g.8326022A>G | CA338162845 | SLC45A1 | c.695A>G (p.Asn232Ser) c.797A>G (p.Asn266Ser) c.704A>G (p.Asn235Ser) c.89A>G (p.Asn30Ser) c.602A>G (p.Asn201Ser) | |
1 | g.8326022A>T | CA338162847 | SLC45A1 | c.695A>T (p.Asn232Ile) c.797A>T (p.Asn266Ile) c.704A>T (p.Asn235Ile) c.89A>T (p.Asn30Ile) c.602A>T (p.Asn201Ile) | |
1 | g.8326023C>A | CA338162850 | SLC45A1 | c.696C>A (p.Asn232Lys) c.798C>A (p.Asn266Lys) c.705C>A (p.Asn235Lys) c.90C>A (p.Asn30Lys) c.603C>A (p.Asn201Lys) | |
1 | g.8326023C= | CA1152270711 | SLC45A1 | c.696C= (p.Asn232=) c.798C= (p.Asn266=) c.705C= (p.Asn235=) c.90C= (p.Asn30=) c.603C= (p.Asn201=) | |
1 | g.8326023C>G | CA570164 | SLC45A1 | c.696C>G (p.Asn232Lys) c.798C>G (p.Asn266Lys) c.705C>G (p.Asn235Lys) c.90C>G (p.Asn30Lys) c.603C>G (p.Asn201Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326023C>T | CA415835960 | SLC45A1 | c.696C>T (p.Asn232=) c.798C>T (p.Asn266=) c.705C>T (p.Asn235=) c.90C>T (p.Asn30=) c.603C>T (p.Asn201=) | gnomAD v4 |
1 | g.8326024A>C | CA338162852 | SLC45A1 | c.697A>C (p.Ile233Leu) c.799A>C (p.Ile267Leu) c.706A>C (p.Ile236Leu) c.91A>C (p.Ile31Leu) c.604A>C (p.Ile202Leu) | |
1 | g.8326024A>G | CA338162854 | SLC45A1 | c.697A>G (p.Ile233Val) c.799A>G (p.Ile267Val) c.706A>G (p.Ile236Val) c.91A>G (p.Ile31Val) c.604A>G (p.Ile202Val) | gnomAD v4 |
1 | g.8326024A>T | CA338162855 | SLC45A1 | c.697A>T (p.Ile233Phe) c.799A>T (p.Ile267Phe) c.706A>T (p.Ile236Phe) c.91A>T (p.Ile31Phe) c.604A>T (p.Ile202Phe) | |
1 | g.8326025T>A | CA338162857 | SLC45A1 | c.698T>A (p.Ile233Asn) c.800T>A (p.Ile267Asn) c.707T>A (p.Ile236Asn) c.92T>A (p.Ile31Asn) c.605T>A (p.Ile202Asn) | |
1 | g.8326025T>C | CA338162859 | SLC45A1 | c.698T>C (p.Ile233Thr) c.800T>C (p.Ile267Thr) c.707T>C (p.Ile236Thr) c.92T>C (p.Ile31Thr) c.605T>C (p.Ile202Thr) | |
1 | g.8326025T>G | CA338162861 | SLC45A1 | c.698T>G (p.Ile233Ser) c.800T>G (p.Ile267Ser) c.707T>G (p.Ile236Ser) c.92T>G (p.Ile31Ser) c.605T>G (p.Ile202Ser) | |
1 | g.8326026C>A | CA415835961 | SLC45A1 | c.699C>A (p.Ile233=) c.801C>A (p.Ile267=) c.708C>A (p.Ile236=) c.93C>A (p.Ile31=) c.606C>A (p.Ile202=) | |
1 | g.8326026C>G | CA338162862 | SLC45A1 | c.699C>G (p.Ile233Met) c.801C>G (p.Ile267Met) c.708C>G (p.Ile236Met) c.93C>G (p.Ile31Met) c.606C>G (p.Ile202Met) | |
1 | g.8326026C>T | CA415835962 | SLC45A1 | c.699C>T (p.Ile233=) c.801C>T (p.Ile267=) c.708C>T (p.Ile236=) c.93C>T (p.Ile31=) c.606C>T (p.Ile202=) | |
1 | g.8326027C>A | CA338162864 | SLC45A1 | c.700C>A (p.His234Asn) c.802C>A (p.His268Asn) c.709C>A (p.His237Asn) c.94C>A (p.His32Asn) c.607C>A (p.His203Asn) | |
1 | g.8326027C>G | CA338162866 | SLC45A1 | c.700C>G (p.His234Asp) c.802C>G (p.His268Asp) c.709C>G (p.His237Asp) c.94C>G (p.His32Asp) c.607C>G (p.His203Asp) | |
1 | g.8326027C>T | CA338162868 | SLC45A1 | c.700C>T (p.His234Tyr) c.802C>T (p.His268Tyr) c.709C>T (p.His237Tyr) c.94C>T (p.His32Tyr) c.607C>T (p.His203Tyr) | |
1 | g.8326028A>C | CA338162870 | SLC45A1 | c.701A>C (p.His234Pro) c.803A>C (p.His268Pro) c.710A>C (p.His237Pro) c.95A>C (p.His32Pro) c.608A>C (p.His203Pro) | |
1 | g.8326028A>G | CA338162871 | SLC45A1 | c.701A>G (p.His234Arg) c.803A>G (p.His268Arg) c.710A>G (p.His237Arg) c.95A>G (p.His32Arg) c.608A>G (p.His203Arg) | |
1 | g.8326028A>T | CA338162873 | SLC45A1 | c.701A>T (p.His234Leu) c.803A>T (p.His268Leu) c.710A>T (p.His237Leu) c.95A>T (p.His32Leu) c.608A>T (p.His203Leu) | |
1 | g.8326029C>A | CA338162877 | SLC45A1 | c.702C>A (p.His234Gln) c.804C>A (p.His268Gln) c.711C>A (p.His237Gln) c.96C>A (p.His32Gln) c.609C>A (p.His203Gln) | gnomAD v4 |
1 | g.8326029C= | CA1143453460 | SLC45A1 | c.702C= (p.His234=) c.804C= (p.His268=) c.711C= (p.His237=) c.96C= (p.His32=) c.609C= (p.His203=) | |
1 | g.8326029C>G | CA338162875 | SLC45A1 | c.702C>G (p.His234Gln) c.804C>G (p.His268Gln) c.711C>G (p.His237Gln) c.96C>G (p.His32Gln) c.609C>G (p.His203Gln) | |
1 | g.8326029C>T | CA570165 | SLC45A1 | c.702C>T (p.His234=) c.804C>T (p.His268=) c.711C>T (p.His237=) c.96C>T (p.His32=) c.609C>T (p.His203=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326030G>A | CA570166 | SLC45A1 | c.703G>A (p.Ala235Thr) c.805G>A (p.Ala269Thr) c.712G>A (p.Ala238Thr) c.97G>A (p.Ala33Thr) c.610G>A (p.Ala204Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.8326030G>C | CA338162880 | SLC45A1 | c.703G>C (p.Ala235Pro) c.805G>C (p.Ala269Pro) c.712G>C (p.Ala238Pro) c.97G>C (p.Ala33Pro) c.610G>C (p.Ala204Pro) | |
1 | g.8326030G= | CA1148303616 | SLC45A1 | c.703G= (p.Ala235=) c.805G= (p.Ala269=) c.712G= (p.Ala238=) c.97G= (p.Ala33=) c.610G= (p.Ala204=) | |
1 | g.8326030G>T | CA338162882 | SLC45A1 | c.703G>T (p.Ala235Ser) c.805G>T (p.Ala269Ser) c.712G>T (p.Ala238Ser) c.97G>T (p.Ala33Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
1 | g.8326031C>A | CA338162884 | SLC45A1 | c.704C>A (p.Ala235Asp) c.806C>A (p.Ala269Asp) c.713C>A (p.Ala238Asp) c.98C>A (p.Ala33Asp) c.611C>A (p.Ala204Asp) | gnomAD v4 |
1 | g.8326031C>G | CA338162886 | SLC45A1 | c.704C>G (p.Ala235Gly) c.806C>G (p.Ala269Gly) c.713C>G (p.Ala238Gly) c.98C>G (p.Ala33Gly) c.611C>G (p.Ala204Gly) | |
1 | g.8326031C>T | CA338162887 | SLC45A1 | c.704C>T (p.Ala235Val) c.806C>T (p.Ala269Val) c.713C>T (p.Ala238Val) c.98C>T (p.Ala33Val) c.611C>T (p.Ala204Val) | |
1 | g.8326033del | CA2643069223 | SLC45A1 | c.706del (p.Leu236SerfsTer?) c.808del (p.Leu270SerfsTer?) c.715del (p.Leu239SerfsTer?) c.100del (p.Leu34SerfsTer?) c.613del (p.Leu205SerfsTer?) | gnomAD v4 |
1 | g.8326032C>A | CA415835963 | SLC45A1 | c.705C>A (p.Ala235=) c.807C>A (p.Ala269=) c.714C>A (p.Ala238=) c.99C>A (p.Ala33=) c.612C>A (p.Ala204=) | |
1 | g.8326032C>G | CA415835964 | SLC45A1 | c.705C>G (p.Ala235=) c.807C>G (p.Ala269=) c.714C>G (p.Ala238=) c.99C>G (p.Ala33=) c.612C>G (p.Ala204=) | |
1 | g.8326032C>T | CA415835965 | SLC45A1 | c.705C>T (p.Ala235=) c.807C>T (p.Ala269=) c.714C>T (p.Ala238=) c.99C>T (p.Ala33=) c.612C>T (p.Ala204=) | |
1 | g.8326033C>A | CA338162889 | SLC45A1 | c.706C>A (p.Leu236Ile) c.808C>A (p.Leu270Ile) c.715C>A (p.Leu239Ile) c.100C>A (p.Leu34Ile) c.613C>A (p.Leu205Ile) | |
1 | g.8326033C= | CA1152270718 | SLC45A1 | c.706C= (p.Leu236=) c.808C= (p.Leu270=) c.715C= (p.Leu239=) c.100C= (p.Leu34=) c.613C= (p.Leu205=) | |
1 | g.8326033C>G | CA338162891 | SLC45A1 | c.706C>G (p.Leu236Val) c.808C>G (p.Leu270Val) c.715C>G (p.Leu239Val) c.100C>G (p.Leu34Val) c.613C>G (p.Leu205Val) | |
1 | g.8326033C>T | CA570167 | SLC45A1 | c.706C>T (p.Leu236Phe) c.808C>T (p.Leu270Phe) c.715C>T (p.Leu239Phe) c.100C>T (p.Leu34Phe) c.613C>T (p.Leu205Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326034T>A | CA338162896 | SLC45A1 | c.707T>A (p.Leu236His) c.809T>A (p.Leu270His) c.716T>A (p.Leu239His) c.101T>A (p.Leu34His) c.614T>A (p.Leu205His) | |
1 | g.8326034T>C | CA338162898 | SLC45A1 | c.707T>C (p.Leu236Pro) c.809T>C (p.Leu270Pro) c.716T>C (p.Leu239Pro) c.101T>C (p.Leu34Pro) c.614T>C (p.Leu205Pro) | |
1 | g.8326034T>G | CA338162900 | SLC45A1 | c.707T>G (p.Leu236Arg) c.809T>G (p.Leu270Arg) c.716T>G (p.Leu239Arg) c.101T>G (p.Leu34Arg) c.614T>G (p.Leu205Arg) | |
1 | g.8326035C>A | CA415835967 | SLC45A1 | c.708C>A (p.Leu236=) c.810C>A (p.Leu270=) c.717C>A (p.Leu239=) c.102C>A (p.Leu34=) c.615C>A (p.Leu205=) | |
1 | g.8326035C= | CA1152270723 | SLC45A1 | c.708C= (p.Leu236=) c.810C= (p.Leu270=) c.717C= (p.Leu239=) c.102C= (p.Leu34=) c.615C= (p.Leu205=) | |
1 | g.8326035C>G | CA415835966 | SLC45A1 | c.708C>G (p.Leu236=) c.810C>G (p.Leu270=) c.717C>G (p.Leu239=) c.102C>G (p.Leu34=) c.615C>G (p.Leu205=) | |
1 | g.8326035C>T | CA570168 | SLC45A1 | c.708C>T (p.Leu236=) c.810C>T (p.Leu270=) c.717C>T (p.Leu239=) c.102C>T (p.Leu34=) c.615C>T (p.Leu205=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326036C>A | CA338162905 | SLC45A1 | c.709C>A (p.Leu237Met) c.811C>A (p.Leu271Met) c.718C>A (p.Leu240Met) c.103C>A (p.Leu35Met) c.616C>A (p.Leu206Met) | |
1 | g.8326036C= | CA1152270724 | SLC45A1 | c.709C= (p.Leu237=) c.811C= (p.Leu271=) c.718C= (p.Leu240=) c.103C= (p.Leu35=) c.616C= (p.Leu206=) | |
1 | g.8326036C>G | CA338162903 | SLC45A1 | c.709C>G (p.Leu237Val) c.811C>G (p.Leu271Val) c.718C>G (p.Leu240Val) c.103C>G (p.Leu35Val) c.616C>G (p.Leu206Val) | dbSNP |
1 | g.8326036C>T | CA415835968 | SLC45A1 | c.709C>T (p.Leu237=) c.811C>T (p.Leu271=) c.718C>T (p.Leu240=) c.103C>T (p.Leu35=) c.616C>T (p.Leu206=) | |
1 | g.8326037T>A | CA338162906 | SLC45A1 | c.710T>A (p.Leu237Gln) c.812T>A (p.Leu271Gln) c.719T>A (p.Leu240Gln) c.104T>A (p.Leu35Gln) c.617T>A (p.Leu206Gln) | |
1 | g.8326037T>C | CA338162907 | SLC45A1 | c.710T>C (p.Leu237Pro) c.812T>C (p.Leu271Pro) c.719T>C (p.Leu240Pro) c.104T>C (p.Leu35Pro) c.617T>C (p.Leu206Pro) | |
1 | g.8326037T>G | CA338162908 | SLC45A1 | c.710T>G (p.Leu237Arg) c.812T>G (p.Leu271Arg) c.719T>G (p.Leu240Arg) c.104T>G (p.Leu35Arg) c.617T>G (p.Leu206Arg) | |
1 | g.8326038G>A | CA415835969 | SLC45A1 | c.711G>A (p.Leu237=) c.813G>A (p.Leu271=) c.720G>A (p.Leu240=) c.105G>A (p.Leu35=) c.618G>A (p.Leu206=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8326038G>C | CA415835970 | SLC45A1 | c.711G>C (p.Leu237=) c.813G>C (p.Leu271=) c.720G>C (p.Leu240=) c.105G>C (p.Leu35=) c.618G>C (p.Leu206=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8326038G= | CA1152270725 | SLC45A1 | c.711G= (p.Leu237=) c.813G= (p.Leu271=) c.720G= (p.Leu240=) c.105G= (p.Leu35=) c.618G= (p.Leu206=) | |
1 | g.8326038G>T | CA415835971 | SLC45A1 | c.711G>T (p.Leu237=) c.813G>T (p.Leu271=) c.720G>T (p.Leu240=) c.105G>T (p.Leu35=) c.618G>T (p.Leu206=) | |
1 | g.8326039G>A | CA338162910 | SLC45A1 | c.712G>A (p.Ala238Thr) c.814G>A (p.Ala272Thr) c.721G>A (p.Ala241Thr) c.106G>A (p.Ala36Thr) c.619G>A (p.Ala207Thr) | gnomAD v4 |
1 | g.8326039G>C | CA338162912 | SLC45A1 | c.712G>C (p.Ala238Pro) c.814G>C (p.Ala272Pro) c.721G>C (p.Ala241Pro) c.106G>C (p.Ala36Pro) c.619G>C (p.Ala207Pro) | |
1 | g.8326039G>T | CA338162913 | SLC45A1 | c.712G>T (p.Ala238Ser) c.814G>T (p.Ala272Ser) c.721G>T (p.Ala241Ser) c.106G>T (p.Ala36Ser) c.619G>T (p.Ala207Ser) | gnomAD v4 |
1 | g.8326040C>A | CA338162915 | SLC45A1 | c.713C>A (p.Ala238Glu) c.815C>A (p.Ala272Glu) c.722C>A (p.Ala241Glu) c.107C>A (p.Ala36Glu) c.620C>A (p.Ala207Glu) | gnomAD v4 |
1 | g.8326040C>G | CA338162916 | SLC45A1 | c.713C>G (p.Ala238Gly) c.815C>G (p.Ala272Gly) c.722C>G (p.Ala241Gly) c.107C>G (p.Ala36Gly) c.620C>G (p.Ala207Gly) | |
1 | g.8326040C>T | CA338162919 | SLC45A1 | c.713C>T (p.Ala238Val) c.815C>T (p.Ala272Val) c.722C>T (p.Ala241Val) c.107C>T (p.Ala36Val) c.620C>T (p.Ala207Val) | gnomAD v4 |
1 | g.8326041A= | CA1152270728 | SLC45A1 | c.714A= (p.Ala238=) c.816A= (p.Ala272=) c.723A= (p.Ala241=) c.108A= (p.Ala36=) c.621A= (p.Ala207=) | |
1 | g.8326041A>C | CA415835972 | SLC45A1 | c.714A>C (p.Ala238=) c.816A>C (p.Ala272=) c.723A>C (p.Ala241=) c.108A>C (p.Ala36=) c.621A>C (p.Ala207=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8326041A>G | CA570169 | SLC45A1 | c.714A>G (p.Ala238=) c.816A>G (p.Ala272=) c.723A>G (p.Ala241=) c.108A>G (p.Ala36=) c.621A>G (p.Ala207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326041A>T | CA415835973 | SLC45A1 | c.714A>T (p.Ala238=) c.816A>T (p.Ala272=) c.723A>T (p.Ala241=) c.108A>T (p.Ala36=) c.621A>T (p.Ala207=) | |
1 | g.8326042G>A | CA338162922 | SLC45A1 | c.715G>A (p.Gly239Ser) c.817G>A (p.Gly273Ser) c.724G>A (p.Gly242Ser) c.109G>A (p.Gly37Ser) c.622G>A (p.Gly208Ser) | |
1 | g.8326042G>C | CA338162923 | SLC45A1 | c.715G>C (p.Gly239Arg) c.817G>C (p.Gly273Arg) c.724G>C (p.Gly242Arg) c.109G>C (p.Gly37Arg) c.622G>C (p.Gly208Arg) | |
1 | g.8326042G>T | CA338162926 | SLC45A1 | c.715G>T (p.Gly239Cys) c.817G>T (p.Gly273Cys) c.724G>T (p.Gly242Cys) c.109G>T (p.Gly37Cys) c.622G>T (p.Gly208Cys) | |
1 | g.8326043G>A | CA338162930 | SLC45A1 | c.715+1G>A (n.715+1G>A) c.817+1G>A (n.817+1G>A) c.724+1G>A (n.724+1G>A) c.109+1G>A (n.109+1G>A) c.622+1G>A (n.622+1G>A) | dbSNP |
1 | g.8326043G>C | CA338162933 | SLC45A1 | c.715+1G>C (n.715+1G>C) c.817+1G>C (n.817+1G>C) c.724+1G>C (n.724+1G>C) c.109+1G>C (n.109+1G>C) c.622+1G>C (n.622+1G>C) | |
1 | g.8326043G= | CA1152270732 | SLC45A1 | c.715+1G= (n.715+1G=) c.817+1G= (n.817+1G=) c.724+1G= (n.724+1G=) c.109+1G= (n.109+1G=) c.622+1G= (n.622+1G=) | |
1 | g.8326043G>T | CA338162932 | SLC45A1 | c.715+1G>T (n.715+1G>T) c.817+1G>T (n.817+1G>T) c.724+1G>T (n.724+1G>T) c.109+1G>T (n.109+1G>T) c.622+1G>T (n.622+1G>T) | gnomAD v4 |
1 | g.8326044T>A | CA338162935 | SLC45A1 | c.715+2T>A (n.715+2T>A) c.817+2T>A (n.817+2T>A) c.724+2T>A (n.724+2T>A) c.109+2T>A (n.109+2T>A) c.622+2T>A (n.622+2T>A) | |
1 | g.8326044T>C | CA338162939 | SLC45A1 | c.715+2T>C (n.715+2T>C) c.817+2T>C (n.817+2T>C) c.724+2T>C (n.724+2T>C) c.109+2T>C (n.109+2T>C) c.622+2T>C (n.622+2T>C) | gnomAD v4 |
1 | g.8326044T>G | CA338162937 | SLC45A1 | c.715+2T>G (n.715+2T>G) c.817+2T>G (n.817+2T>G) c.724+2T>G (n.724+2T>G) c.109+2T>G (n.109+2T>G) c.622+2T>G (n.622+2T>G) | dbSNP |
1 | g.8326044T= | CA1152270735 | SLC45A1 | c.715+2T= (n.715+2T=) c.817+2T= (n.817+2T=) c.724+2T= (n.724+2T=) c.109+2T= (n.109+2T=) c.622+2T= (n.622+2T=) | |
1 | g.8326045G>A | CA1152270738 | SLC45A1 | c.715+3G>A (n.715+3G>A) c.817+3G>A (n.817+3G>A) c.724+3G>A (n.724+3G>A) c.109+3G>A (n.109+3G>A) c.622+3G>A (n.622+3G>A) | dbSNP gnomAD v4 |
1 | g.8326045G= | CA1152270737 | SLC45A1 | c.715+3G= (n.715+3G=) c.817+3G= (n.817+3G=) c.724+3G= (n.724+3G=) c.109+3G= (n.109+3G=) c.622+3G= (n.622+3G=) | |
1 | g.8326046A>G | CA2643069224 | SLC45A1 | c.715+4A>G (n.715+4A>G) c.817+4A>G (n.817+4A>G) c.724+4A>G (n.724+4A>G) c.109+4A>G (n.109+4A>G) c.622+4A>G (n.622+4A>G) | gnomAD v4 |
1 | g.8326046A>T | CA2643069225 | SLC45A1 | c.715+4A>T (n.715+4A>T) c.817+4A>T (n.817+4A>T) c.724+4A>T (n.724+4A>T) c.109+4A>T (n.109+4A>T) c.622+4A>T (n.622+4A>T) | gnomAD v4 |
1 | g.8326051C>A | CA2643069226 | SLC45A1 | c.715+9C>A (n.715+9C>A) c.817+9C>A (n.817+9C>A) c.724+9C>A (n.724+9C>A) c.109+9C>A (n.109+9C>A) c.622+9C>A (n.622+9C>A) | gnomAD v4 |
1 | g.8326052C= | CA1152270740 | SLC45A1 | c.715+10C= (n.715+10C=) c.817+10C= (n.817+10C=) c.724+10C= (n.724+10C=) c.109+10C= (n.109+10C=) c.622+10C= (n.622+10C=) | |
1 | g.8326052C>T | CA570170 | SLC45A1 | c.715+10C>T (n.715+10C>T) c.817+10C>T (n.817+10C>T) c.724+10C>T (n.724+10C>T) c.109+10C>T (n.109+10C>T) c.622+10C>T (n.622+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326053G>A | CA570171 | SLC45A1 | c.715+11G>A (n.715+11G>A) c.817+11G>A (n.817+11G>A) c.724+11G>A (n.724+11G>A) c.109+11G>A (n.109+11G>A) c.622+11G>A (n.622+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326053G>C | CA2643069227 | SLC45A1 | c.715+11G>C (n.715+11G>C) c.817+11G>C (n.817+11G>C) c.724+11G>C (n.724+11G>C) c.109+11G>C (n.109+11G>C) c.622+11G>C (n.622+11G>C) | gnomAD v4 |
1 | g.8326053G= | CA1144105845 | SLC45A1 | c.715+11G= (n.715+11G=) c.817+11G= (n.817+11G=) c.724+11G= (n.724+11G=) c.109+11G= (n.109+11G=) c.622+11G= (n.622+11G=) | |
1 | g.8326053G>T | CA521020106 | SLC45A1 | c.715+11G>T (n.715+11G>T) c.817+11G>T (n.817+11G>T) c.724+11G>T (n.724+11G>T) c.109+11G>T (n.109+11G>T) c.622+11G>T (n.622+11G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.8326055A= | CA1152270746 | SLC45A1 | c.715+13A= (n.715+13A=) c.817+13A= (n.817+13A=) c.724+13A= (n.724+13A=) c.109+13A= (n.109+13A=) c.622+13A= (n.622+13A=) | |
1 | g.8326055A>C | CA521020108 | SLC45A1 | c.715+13A>C (n.715+13A>C) c.817+13A>C (n.817+13A>C) c.724+13A>C (n.724+13A>C) c.109+13A>C (n.109+13A>C) c.622+13A>C (n.622+13A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326055A>G | CA570172 | SLC45A1 | c.715+13A>G (n.715+13A>G) c.817+13A>G (n.817+13A>G) c.724+13A>G (n.724+13A>G) c.109+13A>G (n.109+13A>G) c.622+13A>G (n.622+13A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326056G>T | CA2643069228 | SLC45A1 | c.715+14G>T (n.715+14G>T) c.817+14G>T (n.817+14G>T) c.724+14G>T (n.724+14G>T) c.109+14G>T (n.109+14G>T) c.622+14G>T (n.622+14G>T) | gnomAD v4 |
1 | g.8326057C>A | CA2643069229 | SLC45A1 | c.715+15C>A (n.715+15C>A) c.817+15C>A (n.817+15C>A) c.724+15C>A (n.724+15C>A) c.109+15C>A (n.109+15C>A) c.622+15C>A (n.622+15C>A) | gnomAD v4 |
1 | g.8326057C= | CA1143734316 | SLC45A1 | c.715+15C= (n.715+15C=) c.817+15C= (n.817+15C=) c.724+15C= (n.724+15C=) c.109+15C= (n.109+15C=) c.622+15C= (n.622+15C=) | |
1 | g.8326057C>T | CA570173 | SLC45A1 | c.715+15C>T (n.715+15C>T) c.817+15C>T (n.817+15C>T) c.724+15C>T (n.724+15C>T) c.109+15C>T (n.109+15C>T) c.622+15C>T (n.622+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326059G>A | CA2643069230 | SLC45A1 | c.715+17G>A (n.715+17G>A) c.817+17G>A (n.817+17G>A) c.724+17G>A (n.724+17G>A) c.109+17G>A (n.109+17G>A) c.622+17G>A (n.622+17G>A) | gnomAD v4 |
1 | g.8326061del | CA2574198915 | SLC45A1 | c.715+19del (n.715+19del) c.817+19del (n.817+19del) c.724+19del (n.724+19del) c.109+19del (n.109+19del) c.622+19del (n.622+19del) | |
1 | g.8326060G>T | CA2840117603 | SLC45A1 | c.715+18G>T (n.715+18G>T) c.817+18G>T (n.817+18G>T) c.724+18G>T (n.724+18G>T) c.109+18G>T (n.109+18G>T) c.622+18G>T (n.622+18G>T) | |
1 | g.8326061G>A | CA2643069231 | SLC45A1 | c.715+19G>A (n.715+19G>A) c.817+19G>A (n.817+19G>A) c.724+19G>A (n.724+19G>A) c.109+19G>A (n.109+19G>A) c.622+19G>A (n.622+19G>A) | gnomAD v4 |
1 | g.8326061G>T | CA2840117604 | SLC45A1 | c.715+19G>T (n.715+19G>T) c.817+19G>T (n.817+19G>T) c.724+19G>T (n.724+19G>T) c.109+19G>T (n.109+19G>T) c.622+19G>T (n.622+19G>T) | |
1 | g.8326062C>A | CA2643069232 | SLC45A1 | c.715+20C>A (n.715+20C>A) c.817+20C>A (n.817+20C>A) c.724+20C>A (n.724+20C>A) c.109+20C>A (n.109+20C>A) c.622+20C>A (n.622+20C>A) | gnomAD v4 |
1 | g.8326062C= | CA1152270752 | SLC45A1 | c.715+20C= (n.715+20C=) c.817+20C= (n.817+20C=) c.724+20C= (n.724+20C=) c.109+20C= (n.109+20C=) c.622+20C= (n.622+20C=) | |
1 | g.8326062C>G | CA570174 | SLC45A1 | c.715+20C>G (n.715+20C>G) c.817+20C>G (n.817+20C>G) c.724+20C>G (n.724+20C>G) c.109+20C>G (n.109+20C>G) c.622+20C>G (n.622+20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.8326063C>A | CA2643069233 | SLC45A1 | c.715+21C>A (n.715+21C>A) c.817+21C>A (n.817+21C>A) c.724+21C>A (n.724+21C>A) c.109+21C>A (n.109+21C>A) c.622+21C>A (n.622+21C>A) | gnomAD v4 |
1 | g.8326063C= | CA1152270754 | SLC45A1 | c.715+21C= (n.715+21C=) c.817+21C= (n.817+21C=) c.724+21C= (n.724+21C=) c.109+21C= (n.109+21C=) c.622+21C= (n.622+21C=) | |
1 | g.8326063C>G | CA570175 | SLC45A1 | c.715+21C>G (n.715+21C>G) c.817+21C>G (n.817+21C>G) c.724+21C>G (n.724+21C>G) c.109+21C>G (n.109+21C>G) c.622+21C>G (n.622+21C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326063C>T | CA521020113 | SLC45A1 | c.715+21C>T (n.715+21C>T) c.817+21C>T (n.817+21C>T) c.724+21C>T (n.724+21C>T) c.109+21C>T (n.109+21C>T) c.622+21C>T (n.622+21C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326064G>A | CA570176 | SLC45A1 | c.715+22G>A (n.715+22G>A) c.817+22G>A (n.817+22G>A) c.724+22G>A (n.724+22G>A) c.109+22G>A (n.109+22G>A) c.622+22G>A (n.622+22G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.8326064G>C | CA2643069234 | SLC45A1 | c.715+22G>C (n.715+22G>C) c.817+22G>C (n.817+22G>C) c.724+22G>C (n.724+22G>C) c.109+22G>C (n.109+22G>C) c.622+22G>C (n.622+22G>C) | gnomAD v4 |
1 | g.8326064G= | CA1152270757 | SLC45A1 | c.715+22G= (n.715+22G=) c.817+22G= (n.817+22G=) c.724+22G= (n.724+22G=) c.109+22G= (n.109+22G=) c.622+22G= (n.622+22G=) | |
1 | g.8326065A= | CA1152270759 | SLC45A1 | c.715+23A= (n.715+23A=) c.817+23A= (n.817+23A=) c.724+23A= (n.724+23A=) c.109+23A= (n.109+23A=) c.622+23A= (n.622+23A=) | |
1 | g.8326065A>C | CA2574198916 | SLC45A1 | c.715+23A>C (n.715+23A>C) c.817+23A>C (n.817+23A>C) c.724+23A>C (n.724+23A>C) c.109+23A>C (n.109+23A>C) c.622+23A>C (n.622+23A>C) | |
1 | g.8326065A>G | CA1152270760 | SLC45A1 | c.715+23A>G (n.715+23A>G) c.817+23A>G (n.817+23A>G) c.724+23A>G (n.724+23A>G) c.109+23A>G (n.109+23A>G) c.622+23A>G (n.622+23A>G) | dbSNP |
1 | g.8326066A>G | CA2574198917 | SLC45A1 | c.715+24A>G (n.715+24A>G) c.817+24A>G (n.817+24A>G) c.724+24A>G (n.724+24A>G) c.109+24A>G (n.109+24A>G) c.622+24A>G (n.622+24A>G) | dbSNP |
1 | g.8326066A>T | CA2643069235 | SLC45A1 | c.715+24A>T (n.715+24A>T) c.817+24A>T (n.817+24A>T) c.724+24A>T (n.724+24A>T) c.109+24A>T (n.109+24A>T) c.622+24A>T (n.622+24A>T) | gnomAD v4 |
1 | g.8326067G>C | CA739487528 | SLC45A1 | c.715+25G>C (n.715+25G>C) c.817+25G>C (n.817+25G>C) c.724+25G>C (n.724+25G>C) c.109+25G>C (n.109+25G>C) c.622+25G>C (n.622+25G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.8326067G= | CA1152270761 | SLC45A1 | c.715+25G= (n.715+25G=) c.817+25G= (n.817+25G=) c.724+25G= (n.724+25G=) c.109+25G= (n.109+25G=) c.622+25G= (n.622+25G=) | |
1 | g.8326067G>T | CA2643069236 | SLC45A1 | c.715+25G>T (n.715+25G>T) c.817+25G>T (n.817+25G>T) c.724+25G>T (n.724+25G>T) c.109+25G>T (n.109+25G>T) c.622+25G>T (n.622+25G>T) | gnomAD v4 |
1 | g.8326068C>A | CA2643069237 | SLC45A1 | c.715+26C>A (n.715+26C>A) c.817+26C>A (n.817+26C>A) c.724+26C>A (n.724+26C>A) c.109+26C>A (n.109+26C>A) c.622+26C>A (n.622+26C>A) | gnomAD v4 |
1 | g.8326068C= | CA1152270763 | SLC45A1 | c.715+26C= (n.715+26C=) c.817+26C= (n.817+26C=) c.724+26C= (n.724+26C=) c.109+26C= (n.109+26C=) c.622+26C= (n.622+26C=) | |
1 | g.8326068C>G | CA2574198918 | SLC45A1 | c.715+26C>G (n.715+26C>G) c.817+26C>G (n.817+26C>G) c.724+26C>G (n.724+26C>G) c.109+26C>G (n.109+26C>G) c.622+26C>G (n.622+26C>G) | |
1 | g.8326068C>T | CA1152270765 | SLC45A1 | c.715+26C>T (n.715+26C>T) c.817+26C>T (n.817+26C>T) c.724+26C>T (n.724+26C>T) c.109+26C>T (n.109+26C>T) c.622+26C>T (n.622+26C>T) | dbSNP |