Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.31070188G>A | CA391537563 | TRPM1 | c.56C>T (p.Pro19Leu) c.173C>T (p.Pro58Leu) c.122C>T (p.Pro41Leu) | |
15 | g.31070188G>C | CA391537561 | TRPM1 | c.56C>G (p.Pro19Arg) c.173C>G (p.Pro58Arg) c.122C>G (p.Pro41Arg) | dbSNP |
15 | g.31070188G>T | CA391537558 | TRPM1 | c.56C>A (p.Pro19His) c.173C>A (p.Pro58His) c.122C>A (p.Pro41His) | COSMIC |
15 | g.31070193dup | CA2842650108 | TRPM1 | c.56dup (p.Leu20SerfsTer10) c.173dup (p.Leu59SerfsTer10) c.122dup (p.Leu42SerfsTer10) | |
15 | g.31070193del | CA645580065 | TRPM1 | c.56del (p.Pro19LeufsTer?) c.173del (p.Pro58LeufsTer?) c.122del (p.Pro41LeufsTer?) | gnomAD v4 COSMIC COSMIC |
15 | g.31070189G>A | CA267502136 | TRPM1 | c.55C>T (p.Pro19Ser) c.172C>T (p.Pro58Ser) c.121C>T (p.Pro41Ser) | dbSNP |
15 | g.31070189G>C | CA7453074 | TRPM1 | c.55C>G (p.Pro19Ala) c.172C>G (p.Pro58Ala) c.121C>G (p.Pro41Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070189G= | CA2167784186 | TRPM1 | c.55C= (p.Pro19=) c.172C= (p.Pro58=) c.121C= (p.Pro41=) | |
15 | g.31070189G>T | CA267502145 | TRPM1 | c.55C>A (p.Pro19Thr) c.172C>A (p.Pro58Thr) c.121C>A (p.Pro41Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070190G>A | CA489644951 | TRPM1 | c.54C>T (p.Pro18=) c.171C>T (p.Pro57=) c.120C>T (p.Pro40=) | gnomAD v4 |
15 | g.31070190G>C | CA489644952 | TRPM1 | c.54C>G (p.Pro18=) c.171C>G (p.Pro57=) c.120C>G (p.Pro40=) | gnomAD v4 |
15 | g.31070190G>T | CA489644950 | TRPM1 | c.54C>A (p.Pro18=) c.171C>A (p.Pro57=) c.120C>A (p.Pro40=) | |
15 | g.31070191G>A | CA391537577 | TRPM1 | c.53C>T (p.Pro18Leu) c.170C>T (p.Pro57Leu) c.119C>T (p.Pro40Leu) | |
15 | g.31070191G>C | CA391537580 | TRPM1 | c.53C>G (p.Pro18Arg) c.170C>G (p.Pro57Arg) c.119C>G (p.Pro40Arg) | gnomAD v4 |
15 | g.31070191G= | CA2167784187 | TRPM1 | c.53C= (p.Pro18=) c.170C= (p.Pro57=) c.119C= (p.Pro40=) | |
15 | g.31070191G>T | CA391537582 | TRPM1 | c.53C>A (p.Pro18His) c.170C>A (p.Pro57His) c.119C>A (p.Pro40His) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070192G>A | CA391537587 | TRPM1 | c.52C>T (p.Pro18Ser) c.169C>T (p.Pro57Ser) c.118C>T (p.Pro40Ser) | dbSNP gnomAD v4 |
15 | g.31070192G>C | CA391537589 | TRPM1 | c.52C>G (p.Pro18Ala) c.169C>G (p.Pro57Ala) c.118C>G (p.Pro40Ala) | |
15 | g.31070192G= | CA2167784188 | TRPM1 | c.52C= (p.Pro18=) c.169C= (p.Pro57=) c.118C= (p.Pro40=) | |
15 | g.31070192G>T | CA391537592 | TRPM1 | c.52C>A (p.Pro18Thr) c.169C>A (p.Pro57Thr) c.118C>A (p.Pro40Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070193G>A | CA7453075 | TRPM1 | c.51C>T (p.Ile17=) c.168C>T (p.Ile56=) c.117C>T (p.Ile39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070193G>C | CA391537596 | TRPM1 | c.51C>G (p.Ile17Met) c.168C>G (p.Ile56Met) c.117C>G (p.Ile39Met) | |
15 | g.31070193G= | CA2167784189 | TRPM1 | c.51C= (p.Ile17=) c.168C= (p.Ile56=) c.117C= (p.Ile39=) | |
15 | g.31070193G>T | CA489644953 | TRPM1 | c.51C>A (p.Ile17=) c.168C>A (p.Ile56=) c.117C>A (p.Ile39=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070194A>C | CA391537600 | TRPM1 | c.50T>G (p.Ile17Ser) c.167T>G (p.Ile56Ser) c.116T>G (p.Ile39Ser) | |
15 | g.31070194A>G | CA391537603 | TRPM1 | c.50T>C (p.Ile17Thr) c.167T>C (p.Ile56Thr) c.116T>C (p.Ile39Thr) | |
15 | g.31070194A>T | CA391537606 | TRPM1 | c.50T>A (p.Ile17Asn) c.167T>A (p.Ile56Asn) c.116T>A (p.Ile39Asn) | |
15 | g.31070194dup | CA2627517267 | TRPM1 | c.50dup (p.Leu20SerfsTer10) c.167dup (p.Leu59SerfsTer10) c.116dup (p.Leu42SerfsTer10) | gnomAD v4 |
15 | g.31070196_31070197del | CA2505780669 | TRPM1 | c.49_50del (p.Ile17ProfsTer12) c.166_167del (p.Ile56ProfsTer12) c.115_116del (p.Ile39ProfsTer12) | gnomAD v4 |
15 | g.31070195T>A | CA391537615 | TRPM1 | c.49A>T (p.Ile17Phe) c.166A>T (p.Ile56Phe) c.115A>T (p.Ile39Phe) | |
15 | g.31070195T>C | CA391537610 | TRPM1 | c.49A>G (p.Ile17Val) c.166A>G (p.Ile56Val) c.115A>G (p.Ile39Val) | dbSNP |
15 | g.31070195T>G | CA391537612 | TRPM1 | c.49A>C (p.Ile17Leu) c.166A>C (p.Ile56Leu) c.115A>C (p.Ile39Leu) | |
15 | g.31070195T= | CA2167784190 | TRPM1 | c.49A= (p.Ile17=) c.166A= (p.Ile56=) c.115A= (p.Ile39=) | |
15 | g.31070196A>C | CA391537618 | TRPM1 | c.48T>G (p.His16Gln) c.165T>G (p.His55Gln) c.114T>G (p.His38Gln) | |
15 | g.31070196A>G | CA489644954 | TRPM1 | c.48T>C (p.His16=) c.165T>C (p.His55=) c.114T>C (p.His38=) | |
15 | g.31070196A>T | CA391537621 | TRPM1 | c.48T>A (p.His16Gln) c.165T>A (p.His55Gln) c.114T>A (p.His38Gln) | |
15 | g.31070197T>A | CA391537626 | TRPM1 | c.47A>T (p.His16Leu) c.164A>T (p.His55Leu) c.113A>T (p.His38Leu) | |
15 | g.31070197T>C | CA391537627 | TRPM1 | c.47A>G (p.His16Arg) c.164A>G (p.His55Arg) c.113A>G (p.His38Arg) | dbSNP gnomAD v4 |
15 | g.31070197T>G | CA391537630 | TRPM1 | c.47A>C (p.His16Pro) c.164A>C (p.His55Pro) c.113A>C (p.His38Pro) | gnomAD v4 |
15 | g.31070197T= | CA2167784191 | TRPM1 | c.47A= (p.His16=) c.164A= (p.His55=) c.113A= (p.His38=) | |
15 | g.31070198G>A | CA391537634 | TRPM1 | c.46C>T (p.His16Tyr) c.163C>T (p.His55Tyr) c.112C>T (p.His38Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070198G>C | CA391537637 | TRPM1 | c.46C>G (p.His16Asp) c.163C>G (p.His55Asp) c.112C>G (p.His38Asp) | dbSNP |
15 | g.31070198G= | CA2167784192 | TRPM1 | c.46C= (p.His16=) c.163C= (p.His55=) c.112C= (p.His38=) | |
15 | g.31070198G>T | CA391537640 | TRPM1 | c.46C>A (p.His16Asn) c.163C>A (p.His55Asn) c.112C>A (p.His38Asn) | |
15 | g.31070199C>A | CA391537644 | TRPM1 | c.45G>T (p.Gln15His) c.162G>T (p.Gln54His) c.111G>T (p.Gln37His) | ClinVar dbSNP |
15 | g.31070199C= | CA2167784193 | TRPM1 | c.45G= (p.Gln15=) c.162G= (p.Gln54=) c.111G= (p.Gln37=) | |
15 | g.31070199C>G | CA391537647 | TRPM1 | c.45G>C (p.Gln15His) c.162G>C (p.Gln54His) c.111G>C (p.Gln37His) | |
15 | g.31070199C>T | CA489644955 | TRPM1 | c.45G>A (p.Gln15=) c.162G>A (p.Gln54=) c.111G>A (p.Gln37=) | |
15 | g.31070200T>A | CA391537650 | TRPM1 | c.44A>T (p.Gln15Leu) c.161A>T (p.Gln54Leu) c.110A>T (p.Gln37Leu) | |
15 | g.31070200T>C | CA391537653 | TRPM1 | c.44A>G (p.Gln15Arg) c.161A>G (p.Gln54Arg) c.110A>G (p.Gln37Arg) | |
15 | g.31070200T>G | CA391537657 | TRPM1 | c.44A>C (p.Gln15Pro) c.161A>C (p.Gln54Pro) c.110A>C (p.Gln37Pro) | |
15 | g.31070201G>A | CA7453076 | TRPM1 | c.43C>T (p.Gln15Ter) c.160C>T (p.Gln54Ter) c.109C>T (p.Gln37Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070201G>C | CA391537666 | TRPM1 | c.43C>G (p.Gln15Glu) c.160C>G (p.Gln54Glu) c.109C>G (p.Gln37Glu) | |
15 | g.31070201G= | CA2167784194 | TRPM1 | c.43C= (p.Gln15=) c.160C= (p.Gln54=) c.109C= (p.Gln37=) | |
15 | g.31070201G>T | CA391537662 | TRPM1 | c.43C>A (p.Gln15Lys) c.160C>A (p.Gln54Lys) c.109C>A (p.Gln37Lys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070202G>A | CA489644956 | TRPM1 | c.42C>T (p.Asn14=) c.159C>T (p.Asn53=) c.108C>T (p.Asn36=) | |
15 | g.31070202G>C | CA391537669 | TRPM1 | c.42C>G (p.Asn14Lys) c.159C>G (p.Asn53Lys) c.108C>G (p.Asn36Lys) | |
15 | g.31070202G= | CA2167784195 | TRPM1 | c.42C= (p.Asn14=) c.159C= (p.Asn53=) c.108C= (p.Asn36=) | |
15 | g.31070202G>T | CA10635766 | TRPM1 | c.42C>A (p.Asn14Lys) c.159C>A (p.Asn53Lys) c.108C>A (p.Asn36Lys) | ClinVar dbSNP |
15 | g.31070203T>A | CA391537676 | TRPM1 | c.41A>T (p.Asn14Ile) c.158A>T (p.Asn53Ile) c.107A>T (p.Asn36Ile) | |
15 | g.31070203T>C | CA391537678 | TRPM1 | c.41A>G (p.Asn14Ser) c.158A>G (p.Asn53Ser) c.107A>G (p.Asn36Ser) | |
15 | g.31070203T>G | CA391537682 | TRPM1 | c.41A>C (p.Asn14Thr) c.158A>C (p.Asn53Thr) c.107A>C (p.Asn36Thr) | |
15 | g.31070204T>A | CA391537686 | TRPM1 | c.40A>T (p.Asn14Tyr) c.157A>T (p.Asn53Tyr) c.106A>T (p.Asn36Tyr) | |
15 | g.31070204T>C | CA391537688 | TRPM1 | c.40A>G (p.Asn14Asp) c.157A>G (p.Asn53Asp) c.106A>G (p.Asn36Asp) | |
15 | g.31070204T>G | CA391537690 | TRPM1 | c.40A>C (p.Asn14His) c.157A>C (p.Asn53His) c.106A>C (p.Asn36His) | |
15 | g.31070205G>A | CA489644958 | TRPM1 | c.39C>T (p.Thr13=) c.156C>T (p.Thr52=) c.105C>T (p.Thr35=) | |
15 | g.31070205G>C | CA489644957 | TRPM1 | c.39C>G (p.Thr13=) c.156C>G (p.Thr52=) c.105C>G (p.Thr35=) | |
15 | g.31070205G= | CA2167784196 | TRPM1 | c.39C= (p.Thr13=) c.156C= (p.Thr52=) c.105C= (p.Thr35=) | |
15 | g.31070205G>T | CA489644959 | TRPM1 | c.39C>A (p.Thr13=) c.156C>A (p.Thr52=) c.105C>A (p.Thr35=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070206G>A | CA391537694 | TRPM1 | c.38C>T (p.Thr13Ile) c.155C>T (p.Thr52Ile) c.104C>T (p.Thr35Ile) | |
15 | g.31070206G>C | CA391537697 | TRPM1 | c.38C>G (p.Thr13Ser) c.155C>G (p.Thr52Ser) c.104C>G (p.Thr35Ser) | |
15 | g.31070206G>T | CA391537700 | TRPM1 | c.38C>A (p.Thr13Asn) c.155C>A (p.Thr52Asn) c.104C>A (p.Thr35Asn) | |
15 | g.31070206_31070207delinsGT | CA2167784197 | TRPM1 | c.37_38delinsAC (p.Thr13=) c.154_155delinsAC (p.Thr52=) c.103_104delinsAC (p.Thr35=) | |
15 | g.31070207del | CA617553147 | TRPM1 | c.37del (p.Thr13ProfsTer?) c.154del (p.Thr52ProfsTer?) c.103del (p.Thr35ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070207T>A | CA391537703 | TRPM1 | c.37A>T (p.Thr13Ser) c.154A>T (p.Thr52Ser) c.103A>T (p.Thr35Ser) | |
15 | g.31070207T>C | CA391537705 | TRPM1 | c.37A>G (p.Thr13Ala) c.154A>G (p.Thr52Ala) c.103A>G (p.Thr35Ala) | |
15 | g.31070207T>G | CA391537709 | TRPM1 | c.37A>C (p.Thr13Pro) c.154A>C (p.Thr52Pro) c.103A>C (p.Thr35Pro) | |
15 | g.31070208G>A | CA489644960 | TRPM1 | c.36C>T (p.Phe12=) c.153C>T (p.Phe51=) c.102C>T (p.Phe34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070208G>C | CA391537720 | TRPM1 | c.36C>G (p.Phe12Leu) c.153C>G (p.Phe51Leu) c.102C>G (p.Phe34Leu) | |
15 | g.31070208G= | CA2167784198 | TRPM1 | c.36C= (p.Phe12=) c.153C= (p.Phe51=) c.102C= (p.Phe34=) | |
15 | g.31070208G>T | CA391537713 | TRPM1 | c.36C>A (p.Phe12Leu) c.153C>A (p.Phe51Leu) c.102C>A (p.Phe34Leu) | dbSNP |
15 | g.31070209A>C | CA391537725 | TRPM1 | c.35T>G (p.Phe12Cys) c.152T>G (p.Phe51Cys) c.101T>G (p.Phe34Cys) | |
15 | g.31070209A>G | CA391537727 | TRPM1 | c.35T>C (p.Phe12Ser) c.152T>C (p.Phe51Ser) c.101T>C (p.Phe34Ser) | |
15 | g.31070209A>T | CA391537730 | TRPM1 | c.35T>A (p.Phe12Tyr) c.152T>A (p.Phe51Tyr) c.101T>A (p.Phe34Tyr) | |
15 | g.31070210A= | CA2167784199 | TRPM1 | c.34T= (p.Phe12=) c.151T= (p.Phe51=) c.100T= (p.Phe34=) | |
15 | g.31070210A>C | CA391537735 | TRPM1 | c.34T>G (p.Phe12Val) c.151T>G (p.Phe51Val) c.100T>G (p.Phe34Val) | |
15 | g.31070210A>G | CA391537738 | TRPM1 | c.34T>C (p.Phe12Leu) c.151T>C (p.Phe51Leu) c.100T>C (p.Phe34Leu) | gnomAD v4 |
15 | g.31070210A>T | CA391537740 | TRPM1 | c.34T>A (p.Phe12Ile) c.151T>A (p.Phe51Ile) c.100T>A (p.Phe34Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070210_31070214delinsACTGG | CA2167784200 | TRPM1 | c.30_34delinsCCAGT (p.Gly10=) c.147_151delinsCCAGT (p.Gly49=) c.96_100delinsCCAGT (p.Gly32=) | |
15 | g.31070211C>A | CA391537743 | TRPM1 | c.33G>T (p.Gln11His) c.150G>T (p.Gln50His) c.99G>T (p.Gln33His) | dbSNP |
15 | g.31070211C= | CA2167784201 | TRPM1 | c.33G= (p.Gln11=) c.150G= (p.Gln50=) c.99G= (p.Gln33=) | |
15 | g.31070211C>G | CA391537745 | TRPM1 | c.33G>C (p.Gln11His) c.150G>C (p.Gln50His) c.99G>C (p.Gln33His) | |
15 | g.31070211C>T | CA489644961 | TRPM1 | c.33G>A (p.Gln11=) c.150G>A (p.Gln50=) c.99G>A (p.Gln33=) | |
15 | g.31070212_31070215del | CA617553148 | TRPM1 | c.30_33del (p.Gln11SerfsTer?) c.147_150del (p.Gln50SerfsTer?) c.96_99del (p.Gln33SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070211_31070212insCAACCAGTAAGCCAGCGTTATTAGGGACAGAAATGCCCCATCTGA | CA7453077 | TRPM1 | c.32_33insTCAGATGGGGCATTTCTGTCCCTAATAACGCTGGCTTACTGGTTG (p.Gln11HisfsTer9) c.149_150insTCAGATGGGGCATTTCTGTCCCTAATAACGCTGGCTTACTGGTTG (p.Gln50HisfsTer9) c.98_99insTCAGATGGGGCATTTCTGTCCCTAATAACGCTGGCTTACTGGTTG (p.Gln33HisfsTer9) | dbSNP ExAC |
15 | g.31070212T>A | CA391537750 | TRPM1 | c.32A>T (p.Gln11Leu) c.149A>T (p.Gln50Leu) c.98A>T (p.Gln33Leu) | |
15 | g.31070212T>C | CA391537753 | TRPM1 | c.32A>G (p.Gln11Arg) c.149A>G (p.Gln50Arg) c.98A>G (p.Gln33Arg) | |
15 | g.31070212T>G | CA391537756 | TRPM1 | c.32A>C (p.Gln11Pro) c.149A>C (p.Gln50Pro) c.98A>C (p.Gln33Pro) | |
15 | g.31070212_31070344delinsCAAC | CA2580089226 | TRPM1 | c.18-118_32delinsGTTG c.135-118_149delinsGTTG c.84-118_98delinsGTTG | ClinVar |
15 | g.31070213G>A | CA118067 | TRPM1 | c.31C>T (p.Gln11Ter) c.148C>T (p.Gln50Ter) c.97C>T (p.Gln33Ter) | ClinVar dbSNP gnomAD v4 |
15 | g.31070213G>C | CA391537764 | TRPM1 | c.31C>G (p.Gln11Glu) c.148C>G (p.Gln50Glu) c.97C>G (p.Gln33Glu) | |
15 | g.31070213G= | CA2167784202 | TRPM1 | c.31C= (p.Gln11=) c.148C= (p.Gln50=) c.97C= (p.Gln33=) | |
15 | g.31070213G>T | CA391537759 | TRPM1 | c.31C>A (p.Gln11Lys) c.148C>A (p.Gln50Lys) c.97C>A (p.Gln33Lys) | |
15 | g.31070214G>A | CA489644963 | TRPM1 | c.30C>T (p.Gly10=) c.147C>T (p.Gly49=) c.96C>T (p.Gly32=) | |
15 | g.31070214G>C | CA489644964 | TRPM1 | c.30C>G (p.Gly10=) c.147C>G (p.Gly49=) c.96C>G (p.Gly32=) | |
15 | g.31070214G>T | CA489644962 | TRPM1 | c.30C>A (p.Gly10=) c.147C>A (p.Gly49=) c.96C>A (p.Gly32=) | ClinVar |
15 | g.31070215C>A | CA391537767 | TRPM1 | c.29G>T (p.Gly10Val) c.146G>T (p.Gly49Val) c.95G>T (p.Gly32Val) | |
15 | g.31070215C>G | CA391537771 | TRPM1 | c.29G>C (p.Gly10Ala) c.146G>C (p.Gly49Ala) c.95G>C (p.Gly32Ala) | |
15 | g.31070215C>T | CA391537773 | TRPM1 | c.29G>A (p.Gly10Asp) c.146G>A (p.Gly49Asp) c.95G>A (p.Gly32Asp) | |
15 | g.31070216C>A | CA391537778 | TRPM1 | c.28G>T (p.Gly10Cys) c.145G>T (p.Gly49Cys) c.94G>T (p.Gly32Cys) | |
15 | g.31070216C= | CA2167784203 | TRPM1 | c.28G= (p.Gly10=) c.145G= (p.Gly49=) c.94G= (p.Gly32=) | |
15 | g.31070216C>G | CA391537779 | TRPM1 | c.28G>C (p.Gly10Arg) c.145G>C (p.Gly49Arg) c.94G>C (p.Gly32Arg) | |
15 | g.31070216C>T | CA391537782 | TRPM1 | c.28G>A (p.Gly10Ser) c.145G>A (p.Gly49Ser) c.94G>A (p.Gly32Ser) | dbSNP |
15 | g.31070217A>C | CA391537788 | TRPM1 | c.27T>G (p.Cys9Trp) c.144T>G (p.Cys48Trp) c.93T>G (p.Cys31Trp) | |
15 | g.31070217A>G | CA489644617 | TRPM1 | c.27T>C (p.Cys9=) c.144T>C (p.Cys48=) c.93T>C (p.Cys31=) | |
15 | g.31070217A>T | CA391537786 | TRPM1 | c.27T>A (p.Cys9Ter) c.144T>A (p.Cys48Ter) c.93T>A (p.Cys31Ter) | |
15 | g.31070218C>A | CA391537793 | TRPM1 | c.26G>T (p.Cys9Phe) c.143G>T (p.Cys48Phe) c.92G>T (p.Cys31Phe) | |
15 | g.31070218C= | CA2167784204 | TRPM1 | c.26G= (p.Cys9=) c.143G= (p.Cys48=) c.92G= (p.Cys31=) | |
15 | g.31070218C>G | CA391537796 | TRPM1 | c.26G>C (p.Cys9Ser) c.143G>C (p.Cys48Ser) c.92G>C (p.Cys31Ser) | |
15 | g.31070218C>T | CA391537799 | TRPM1 | c.26G>A (p.Cys9Tyr) c.143G>A (p.Cys48Tyr) c.92G>A (p.Cys31Tyr) | dbSNP gnomAD v4 |
15 | g.31070219A>C | CA391537803 | TRPM1 | c.25T>G (p.Cys9Gly) c.142T>G (p.Cys48Gly) c.91T>G (p.Cys31Gly) | |
15 | g.31070219A>G | CA391537805 | TRPM1 | c.25T>C (p.Cys9Arg) c.142T>C (p.Cys48Arg) c.91T>C (p.Cys31Arg) | |
15 | g.31070219A>T | CA391537807 | TRPM1 | c.25T>A (p.Cys9Ser) c.142T>A (p.Cys48Ser) c.91T>A (p.Cys31Ser) | gnomAD v4 |
15 | g.31070220G>A | CA7453078 | TRPM1 | c.24C>T (p.Cys8=) c.141C>T (p.Cys47=) c.90C>T (p.Cys30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070220G>C | CA391537818 | TRPM1 | c.24C>G (p.Cys8Trp) c.141C>G (p.Cys47Trp) c.90C>G (p.Cys30Trp) | |
15 | g.31070220G= | CA2167784205 | TRPM1 | c.24C= (p.Cys8=) c.141C= (p.Cys47=) c.90C= (p.Cys30=) | |
15 | g.31070220G>T | CA391537815 | TRPM1 | c.24C>A (p.Cys8Ter) c.141C>A (p.Cys47Ter) c.90C>A (p.Cys30Ter) | |
15 | g.31070221C>A | CA391537822 | TRPM1 | c.23G>T (p.Cys8Phe) c.140G>T (p.Cys47Phe) c.89G>T (p.Cys30Phe) | COSMIC |
15 | g.31070221C>G | CA391537825 | TRPM1 | c.23G>C (p.Cys8Ser) c.140G>C (p.Cys47Ser) c.89G>C (p.Cys30Ser) | |
15 | g.31070221C>T | CA391537827 | TRPM1 | c.23G>A (p.Cys8Tyr) c.140G>A (p.Cys47Tyr) c.89G>A (p.Cys30Tyr) | |
15 | g.31070221dup | CA2167784206 | TRPM1 | c.23dup (p.Cys8TrpfsTer22) c.140dup (p.Cys47TrpfsTer22) c.89dup (p.Cys30TrpfsTer22) | dbSNP |
15 | g.31070222A= | CA2167784207 | TRPM1 | c.22T= (p.Cys8=) c.139T= (p.Cys47=) c.88T= (p.Cys30=) | |
15 | g.31070222A>C | CA391537833 | TRPM1 | c.22T>G (p.Cys8Gly) c.139T>G (p.Cys47Gly) c.88T>G (p.Cys30Gly) | |
15 | g.31070222A>G | CA7453079 | TRPM1 | c.22T>C (p.Cys8Arg) c.139T>C (p.Cys47Arg) c.88T>C (p.Cys30Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070222A>T | CA391537838 | TRPM1 | c.22T>A (p.Cys8Ser) c.139T>A (p.Cys47Ser) c.88T>A (p.Cys30Ser) | |
15 | g.31070223A= | CA2167784208 | TRPM1 | c.21T= (p.Cys7=) c.138T= (p.Cys46=) c.87T= (p.Cys29=) | |
15 | g.31070223A>C | CA391537843 | TRPM1 | c.21T>G (p.Cys7Trp) c.138T>G (p.Cys46Trp) c.87T>G (p.Cys29Trp) | |
15 | g.31070223A>G | CA489644625 | TRPM1 | c.21T>C (p.Cys7=) c.138T>C (p.Cys46=) c.87T>C (p.Cys29=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070223A>T | CA391537845 | TRPM1 | c.21T>A (p.Cys7Ter) c.138T>A (p.Cys46Ter) c.87T>A (p.Cys29Ter) | |
15 | g.31070224C>A | CA391537849 | TRPM1 | c.20G>T (p.Cys7Phe) c.137G>T (p.Cys46Phe) c.86G>T (p.Cys29Phe) | |
15 | g.31070224C>G | CA391537852 | TRPM1 | c.20G>C (p.Cys7Ser) c.137G>C (p.Cys46Ser) c.86G>C (p.Cys29Ser) | |
15 | g.31070224C>T | CA391537853 | TRPM1 | c.20G>A (p.Cys7Tyr) c.137G>A (p.Cys46Tyr) c.86G>A (p.Cys29Tyr) | gnomAD v4 |
15 | g.31070225A= | CA2167784209 | TRPM1 | c.19T= (p.Cys7=) c.136T= (p.Cys46=) c.85T= (p.Cys29=) | |
15 | g.31070225A>C | CA267502167 | TRPM1 | c.19T>G (p.Cys7Gly) c.136T>G (p.Cys46Gly) c.85T>G (p.Cys29Gly) | dbSNP |
15 | g.31070225A>G | CA391537860 | TRPM1 | c.19T>C (p.Cys7Arg) c.136T>C (p.Cys46Arg) c.85T>C (p.Cys29Arg) | |
15 | g.31070225A>T | CA391537858 | TRPM1 | c.19T>A (p.Cys7Ser) c.136T>A (p.Cys46Ser) c.85T>A (p.Cys29Ser) | |
15 | g.31070226C>A | CA391537863 | TRPM1 | c.18G>T (p.Arg6Ser) c.135G>T (p.Arg45Ser) c.84G>T (p.Arg28Ser) | |
15 | g.31070226C>G | CA391537866 | TRPM1 | c.18G>C (p.Arg6Ser) c.135G>C (p.Arg45Ser) c.84G>C (p.Arg28Ser) | |
15 | g.31070226C>T | CA489644631 | TRPM1 | c.18G>A (p.Arg6=) c.135G>A (p.Arg45=) c.84G>A (p.Arg28=) | |
15 | g.31070227C>A | CA391537869 | TRPM1 | c.18-1G>T (n.18-1G>T) c.135-1G>T (n.135-1G>T) c.84-1G>T (n.84-1G>T) | |
15 | g.31070227C>G | CA391537875 | TRPM1 | c.18-1G>C (n.18-1G>C) c.135-1G>C (n.135-1G>C) c.84-1G>C (n.84-1G>C) | |
15 | g.31070227C>T | CA391537871 | TRPM1 | c.18-1G>A (n.18-1G>A) c.135-1G>A (n.135-1G>A) c.84-1G>A (n.84-1G>A) | |
15 | g.31070228T>A | CA391537879 | TRPM1 | c.18-2A>T (n.18-2A>T) c.135-2A>T (n.135-2A>T) c.84-2A>T (n.84-2A>T) | |
15 | g.31070228T>C | CA391537883 | TRPM1 | c.18-2A>G (n.18-2A>G) c.135-2A>G (n.135-2A>G) c.84-2A>G (n.84-2A>G) | |
15 | g.31070228T>G | CA391537881 | TRPM1 | c.18-2A>C (n.18-2A>C) c.135-2A>C (n.135-2A>C) c.84-2A>C (n.84-2A>C) | gnomAD v4 |
15 | g.31070229G>A | CA711978858 | TRPM1 | c.18-3C>T (n.18-3C>T) c.135-3C>T (n.135-3C>T) c.84-3C>T (n.84-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070229G>C | CA7453080 | TRPM1 | c.18-3C>G (n.18-3C>G) c.135-3C>G (n.135-3C>G) c.84-3C>G (n.84-3C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070229G= | CA2167784210 | TRPM1 | c.18-3C= (n.18-3C=) c.135-3C= (n.135-3C=) c.84-3C= (n.84-3C=) | |
15 | g.31070230A= | CA2167784211 | TRPM1 | c.18-4T= (n.18-4T=) c.135-4T= (n.135-4T=) c.84-4T= (n.84-4T=) | |
15 | g.31070230A>C | CA968313794 | TRPM1 | c.18-4T>G (n.18-4T>G) c.135-4T>G (n.135-4T>G) c.84-4T>G (n.84-4T>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070231A>G | CA2575744335 | TRPM1 | c.18-5T>C (n.18-5T>C) c.135-5T>C (n.135-5T>C) c.84-5T>C (n.84-5T>C) | |
15 | g.31070233A>C | CA2842650109 | TRPM1 | c.18-7T>G (n.18-7T>G) c.135-7T>G (n.135-7T>G) c.84-7T>G (n.84-7T>G) | |
15 | g.31070234C= | CA2167784212 | TRPM1 | c.18-8G= (n.18-8G=) c.135-8G= (n.135-8G=) c.84-8G= (n.84-8G=) | |
15 | g.31070234C>G | CA2167784213 | TRPM1 | c.18-8G>C (n.18-8G>C) c.135-8G>C (n.135-8G>C) c.84-8G>C (n.84-8G>C) | dbSNP |
15 | g.31070234C>T | CA7453081 | TRPM1 | c.18-8G>A (n.18-8G>A) c.135-8G>A (n.135-8G>A) c.84-8G>A (n.84-8G>A) | dbSNP ExAC gnomAD v2 |
15 | g.31070235A= | CA2167784214 | TRPM1 | c.18-9T= (n.18-9T=) c.135-9T= (n.135-9T=) c.84-9T= (n.84-9T=) | |
15 | g.31070235A>G | CA2167784215 | TRPM1 | c.18-9T>C (n.18-9T>C) c.135-9T>C (n.135-9T>C) c.84-9T>C (n.84-9T>C) | dbSNP |
15 | g.31070238G>C | CA2627517268 | TRPM1 | c.18-12C>G (n.18-12C>G) c.135-12C>G (n.135-12C>G) c.84-12C>G (n.84-12C>G) | gnomAD v4 |
15 | g.31070239G>A | CA711978864 | TRPM1 | c.18-13C>T (n.18-13C>T) c.135-13C>T (n.135-13C>T) c.84-13C>T (n.84-13C>T) | dbSNP gnomAD v4 |
15 | g.31070239G= | CA2167784216 | TRPM1 | c.18-13C= (n.18-13C=) c.135-13C= (n.135-13C=) c.84-13C= (n.84-13C=) | |
15 | g.31070240C>A | CA7453082 | TRPM1 | c.18-14G>T (n.18-14G>T) c.135-14G>T (n.135-14G>T) c.84-14G>T (n.84-14G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070240C= | CA2167784217 | TRPM1 | c.18-14G= (n.18-14G=) c.135-14G= (n.135-14G=) c.84-14G= (n.84-14G=) | |
15 | g.31070241A= | CA2167784218 | TRPM1 | c.18-15T= (n.18-15T=) c.135-15T= (n.135-15T=) c.84-15T= (n.84-15T=) | |
15 | g.31070241_31070242insCCC | CA7453086 | TRPM1 | c.18-16_18-15insGGG (n.18-16_18-15insGGG) c.135-16_135-15insGGG (n.135-16_135-15insGGG) c.84-16_84-15insGGG (n.84-16_84-15insGGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGT | CA617553149 | TRPM1 | c.18-16_18-15insACGAACATGGG (n.18-16_18-15insACGAACATGGG) c.135-16_135-15insACGAACATGGG (n.135-16_135-15insACGAACATGGG) c.84-16_84-15insACGAACATGGG (n.84-16_84-15insACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAAT | CA2627517269 | TRPM1 | c.18-16_18-15insATTACGAACATGGG (n.18-16_18-15insATTACGAACATGGG) c.135-16_135-15insATTACGAACATGGG (n.135-16_135-15insATTACGAACATGGG) c.84-16_84-15insATTACGAACATGGG (n.84-16_84-15insATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAG | CA2627517271 | TRPM1 | c.18-16_18-15insCTATTACGAACATGGG (n.18-16_18-15insCTATTACGAACATGGG) c.135-16_135-15insCTATTACGAACATGGG (n.135-16_135-15insCTATTACGAACATGGG) c.84-16_84-15insCTATTACGAACATGGG (n.84-16_84-15insCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGAT | CA2627517270 | TRPM1 | c.18-16_18-15insATCTATTACGAACATGGG (n.18-16_18-15insATCTATTACGAACATGGG) c.135-16_135-15insATCTATTACGAACATGGG (n.135-16_135-15insATCTATTACGAACATGGG) c.84-16_84-15insATCTATTACGAACATGGG (n.84-16_84-15insATCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATAT | CA2741417398 | TRPM1 | c.18-16_18-15insATATCTATTACGAACATGGG (n.18-16_18-15insATATCTATTACGAACATGGG) c.135-16_135-15insATATCTATTACGAACATGGG (n.135-16_135-15insATATCTATTACGAACATGGG) c.84-16_84-15insATATCTATTACGAACATGGG (n.84-16_84-15insATATCTATTACGAACATGGG) | |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCT | CA2627517273 | TRPM1 | c.18-16_18-15insAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAGAACAATATCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTAT | CA2627517272 | TRPM1 | c.18-16_18-15insATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insATAGAACAATATCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTG | CA7453083 | TRPM1 | c.18-16_18-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGAT | CA7453084 | TRPM1 | c.18-16_18-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT | CA617553154 | TRPM1 | c.18-16_18-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | gnomAD v2 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGG | CA2580089227 | TRPM1 | c.18-16_18-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | ClinVar |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGT | CA7453088 | TRPM1 | c.18-16_18-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGT | CA7453085 | TRPM1 | c.18-16_18-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | ExAC gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGT | CA7453087 | TRPM1 | c.18-16_18-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTC | CA617553150 | TRPM1 | c.18-16_18-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATT | CA617553151 | TRPM1 | c.18-16_18-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATG | CA968313807 | TRPM1 | c.18-16_18-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGG | CA968313802 | TRPM1 | c.18-16_18-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGGAAATGTTCCCTTCTCTGCT | CA617553152 | TRPM1 | c.18-16_18-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGGAAATGTTCCCTTCTCTGCTATTTTCTTG | CA617553153 | TRPM1 | c.18-16_18-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 |
15 | g.31070242A= | CA2167784219 | TRPM1 | c.18-16T= (n.18-16T=) c.135-16T= (n.135-16T=) c.84-16T= (n.84-16T=) | |
15 | g.31070242A>C | CA2575744336 | TRPM1 | c.18-16T>G (n.18-16T>G) c.135-16T>G (n.135-16T>G) c.84-16T>G (n.84-16T>G) | |
15 | g.31070242A>G | CA2580089228 | TRPM1 | c.18-16T>C (n.18-16T>C) c.135-16T>C (n.135-16T>C) c.84-16T>C (n.84-16T>C) | ClinVar |
15 | g.31070242A>T | CA2573150618 | TRPM1 | c.18-16T>A (n.18-16T>A) c.135-16T>A (n.135-16T>A) c.84-16T>A (n.84-16T>A) | ClinVar dbSNP gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAAT | CA7453089 | TRPM1 | c.18-17_18-16insATTACGAACA (n.18-17_18-16insATTACGAACA) c.135-17_135-16insATTACGAACA (n.135-17_135-16insATTACGAACA) c.84-17_84-16insATTACGAACA (n.84-17_84-16insATTACGAACA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAATAGATATTGTTCTAT | CA617553155 | TRPM1 | c.18-17_18-16insATAGAACAATATCTATTACGAACA (n.18-17_18-16insATAGAACAATATCTATTACGAACA) c.135-17_135-16insATAGAACAATATCTATTACGAACA (n.135-17_135-16insATAGAACAATATCTATTACGAACA) c.84-17_84-16insATAGAACAATATCTATTACGAACA (n.84-17_84-16insATAGAACAATATCTATTACGAACA) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT | CA617553156 | TRPM1 | c.18-17_18-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.18-17_18-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.135-17_135-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.135-17_135-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.84-17_84-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.84-17_84-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) | gnomAD v2 gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGT | CA617553157 | TRPM1 | c.18-17_18-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.18-17_18-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.135-17_135-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.135-17_135-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.84-17_84-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.84-17_84-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070243A= | CA2167784220 | TRPM1 | c.18-17T= (n.18-17T=) c.135-17T= (n.135-17T=) c.84-17T= (n.84-17T=) | |
15 | g.31070243_31070244insTAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTG | CA617553160 | TRPM1 | c.18-18_18-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.18-18_18-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.135-18_135-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.135-18_135-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.84-18_84-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.84-18_84-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070243_31070244insTAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAAT | CA617553158 | TRPM1 | c.18-18_18-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.18-18_18-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.135-18_135-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.135-18_135-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.84-18_84-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.84-18_84-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070243_31070244insTAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGGAAAT | CA617553159 | TRPM1 | c.18-18_18-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.18-18_18-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.135-18_135-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.135-18_135-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.84-18_84-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.84-18_84-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070244del | CA2627517274 | TRPM1 | c.18-18del (n.18-18del) c.135-18del (n.135-18del) c.84-18del (n.84-18del) | gnomAD v4 |
15 | g.31070244G>A | CA711978941 | TRPM1 | c.18-18C>T (n.18-18C>T) c.135-18C>T (n.135-18C>T) c.84-18C>T (n.84-18C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070244G>C | CA2580089230 | TRPM1 | c.18-18C>G (n.18-18C>G) c.135-18C>G (n.135-18C>G) c.84-18C>G (n.84-18C>G) | ClinVar |
15 | g.31070244G= | CA2167784221 | TRPM1 | c.18-18C= (n.18-18C=) c.135-18C= (n.135-18C=) c.84-18C= (n.84-18C=) | |
15 | g.31070244_31070245insATATTGTT | CA7453090 | TRPM1 | c.18-19_18-18insAACAATAT (n.18-19_18-18insAACAATAT) c.135-19_135-18insAACAATAT (n.135-19_135-18insAACAATAT) c.84-19_84-18insAACAATAT (n.84-19_84-18insAACAATAT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070244_31070245insATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTAT | CA7453091 | TRPM1 | c.18-19_18-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.18-19_18-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.135-19_135-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.135-19_135-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.84-19_84-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.84-19_84-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070244_31070245insATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCT | CA617553161 | TRPM1 | c.18-19_18-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.18-19_18-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.135-19_135-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.135-19_135-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.84-19_84-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.84-19_84-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070245C>A | CA267502221 | TRPM1 | c.18-19G>T (n.18-19G>T) c.135-19G>T (n.135-19G>T) c.84-19G>T (n.84-19G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070245C= | CA2167784222 | TRPM1 | c.18-19G= (n.18-19G=) c.135-19G= (n.135-19G=) c.84-19G= (n.84-19G=) | |
15 | g.31070245C>T | CA2627517275 | TRPM1 | c.18-19G>A (n.18-19G>A) c.135-19G>A (n.135-19G>A) c.84-19G>A (n.84-19G>A) | gnomAD v4 |
15 | g.31070245_31070246insTAT | CA7453092 | TRPM1 | c.18-20_18-19insATA (n.18-20_18-19insATA) c.135-20_135-19insATA (n.135-20_135-19insATA) c.84-20_84-19insATA (n.84-20_84-19insATA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070245_31070246insCTCATTAAATG | CA617553162 | TRPM1 | c.18-20_18-19insCATTTAATGAG (n.18-20_18-19insCATTTAATGAG) c.135-20_135-19insCATTTAATGAG (n.135-20_135-19insCATTTAATGAG) c.84-20_84-19insCATTTAATGAG (n.84-20_84-19insCATTTAATGAG) | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070246A= | CA2167784223 | TRPM1 | c.18-20T= (n.18-20T=) c.135-20T= (n.135-20T=) c.84-20T= (n.84-20T=) | |
15 | g.31070246A>G | CA2573150619 | TRPM1 | c.18-20T>C (n.18-20T>C) c.135-20T>C (n.135-20T>C) c.84-20T>C (n.84-20T>C) | ClinVar dbSNP |
15 | g.31070246A>T | CA7453093 | TRPM1 | c.18-20T>A (n.18-20T>A) c.135-20T>A (n.135-20T>A) c.84-20T>A (n.84-20T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070246_31070247insTTAAATGAGTT | CA617553163 | TRPM1 | c.18-21_18-20insAACTCATTTAA (n.18-21_18-20insAACTCATTTAA) c.135-21_135-20insAACTCATTTAA (n.135-21_135-20insAACTCATTTAA) c.84-21_84-20insAACTCATTTAA (n.84-21_84-20insAACTCATTTAA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070247G>C | CA617553164 | TRPM1 | c.18-21C>G (n.18-21C>G) c.135-21C>G (n.135-21C>G) c.84-21C>G (n.84-21C>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070247G= | CA2167784224 | TRPM1 | c.18-21C= (n.18-21C=) c.135-21C= (n.135-21C=) c.84-21C= (n.84-21C=) | |
15 | g.31070247G>T | CA2627517277 | TRPM1 | c.18-21C>A (n.18-21C>A) c.135-21C>A (n.135-21C>A) c.84-21C>A (n.84-21C>A) | gnomAD v4 |
15 | g.31070249del | CA2627517276 | TRPM1 | c.18-21del (n.18-21del) c.135-21del (n.135-21del) c.84-21del (n.84-21del) | gnomAD v4 |
15 | g.31070247_31070248insATATT | CA2627517278 | TRPM1 | c.18-22_18-21insAATAT (n.18-22_18-21insAATAT) c.135-22_135-21insAATAT (n.135-22_135-21insAATAT) c.84-22_84-21insAATAT (n.84-22_84-21insAATAT) | gnomAD v4 |
15 | g.31070247_31070248insTTTTCTATCTT | CA7453094 | TRPM1 | c.18-22_18-21insAAGATAGAAAA (n.18-22_18-21insAAGATAGAAAA) c.135-22_135-21insAAGATAGAAAA (n.135-22_135-21insAAGATAGAAAA) c.84-22_84-21insAAGATAGAAAA (n.84-22_84-21insAAGATAGAAAA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070248G>C | CA617553165 | TRPM1 | c.18-22C>G (n.18-22C>G) c.135-22C>G (n.135-22C>G) c.84-22C>G (n.84-22C>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070248G= | CA2167784225 | TRPM1 | c.18-22C= (n.18-22C=) c.135-22C= (n.135-22C=) c.84-22C= (n.84-22C=) | |
15 | g.31070248G>T | CA2838386564 | TRPM1 | c.18-22C>A (n.18-22C>A) c.135-22C>A (n.135-22C>A) c.84-22C>A (n.84-22C>A) | |
15 | g.31070248_31070249insT | CA7453095 | TRPM1 | c.18-23_18-22insA (n.18-23_18-22insA) c.135-23_135-22insA (n.135-23_135-22insA) c.84-23_84-22insA (n.84-23_84-22insA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070249G>A | CA7453097 | TRPM1 | c.18-23C>T (n.18-23C>T) c.135-23C>T (n.135-23C>T) c.84-23C>T (n.84-23C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070249G= | CA2167784226 | TRPM1 | c.18-23C= (n.18-23C=) c.135-23C= (n.135-23C=) c.84-23C= (n.84-23C=) | |
15 | g.31070249G>T | CA7453098 | TRPM1 | c.18-23C>A (n.18-23C>A) c.135-23C>A (n.135-23C>A) c.84-23C>A (n.84-23C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070249_31070250insATA | CA7453096 | TRPM1 | c.18-24_18-23insTAT (n.18-24_18-23insTAT) c.135-24_135-23insTAT (n.135-24_135-23insTAT) c.84-24_84-23insTAT (n.84-24_84-23insTAT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070250T>C | CA617553166 | TRPM1 | c.18-24A>G (n.18-24A>G) c.135-24A>G (n.135-24A>G) c.84-24A>G (n.84-24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070250T= | CA2167784227 | TRPM1 | c.18-24A= (n.18-24A=) c.135-24A= (n.135-24A=) c.84-24A= (n.84-24A=) | |
15 | g.31070251C>G | CA2627517279 | TRPM1 | c.18-25G>C (n.18-25G>C) c.135-25G>C (n.135-25G>C) c.84-25G>C (n.84-25G>C) | gnomAD v4 |
15 | g.31070252T>G | CA2167784229 | TRPM1 | c.18-26A>C (n.18-26A>C) c.135-26A>C (n.135-26A>C) c.84-26A>C (n.84-26A>C) | dbSNP gnomAD v4 |
15 | g.31070252T= | CA2167784228 | TRPM1 | c.18-26A= (n.18-26A=) c.135-26A= (n.135-26A=) c.84-26A= (n.84-26A=) | |
15 | g.31070252_31070253insATAGTT | CA2627517280 | TRPM1 | c.18-26_18-25insACTATA (n.18-26_18-25insACTATA) c.135-26_135-25insACTATA (n.135-26_135-25insACTATA) c.84-26_84-25insACTATA (n.84-26_84-25insACTATA) | gnomAD v4 |
15 | g.31070254T>C | CA7453100 | TRPM1 | c.18-28A>G (n.18-28A>G) c.135-28A>G (n.135-28A>G) c.84-28A>G (n.84-28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070254T= | CA2167784230 | TRPM1 | c.18-28A= (n.18-28A=) c.135-28A= (n.135-28A=) c.84-28A= (n.84-28A=) | |
15 | g.31070254_31070255insGTCTAGTTTGGTATCTGGGTAGTA | CA7453099 | TRPM1 | c.18-29_18-28insTACTACCCAGATACCAAACTAGAC (n.18-29_18-28insTACTACCCAGATACCAAACTAGAC) c.135-29_135-28insTACTACCCAGATACCAAACTAGAC (n.135-29_135-28insTACTACCCAGATACCAAACTAGAC) c.84-29_84-28insTACTACCCAGATACCAAACTAGAC (n.84-29_84-28insTACTACCCAGATACCAAACTAGAC) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070258_31070263del | CA2627517281 | TRPM1 | c.18-36_18-31del (n.18-36_18-31del) c.135-36_135-31del (n.135-36_135-31del) c.84-36_84-31del (n.84-36_84-31del) | gnomAD v4 |
15 | g.31070258C= | CA2167784231 | TRPM1 | c.18-32G= (n.18-32G=) c.135-32G= (n.135-32G=) c.84-32G= (n.84-32G=) | |
15 | g.31070258C>T | CA7453101 | TRPM1 | c.18-32G>A (n.18-32G>A) c.135-32G>A (n.135-32G>A) c.84-32G>A (n.84-32G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070261C= | CA2167784232 | TRPM1 | c.18-35G= (n.18-35G=) c.135-35G= (n.135-35G=) c.84-35G= (n.84-35G=) | |
15 | g.31070261C>T | CA7453102 | TRPM1 | c.18-35G>A (n.18-35G>A) c.135-35G>A (n.135-35G>A) c.84-35G>A (n.84-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070263A= | CA2167784233 | TRPM1 | c.18-37T= (n.18-37T=) c.135-37T= (n.135-37T=) c.84-37T= (n.84-37T=) | |
15 | g.31070263A>C | CA2627517282 | TRPM1 | c.18-37T>G (n.18-37T>G) c.135-37T>G (n.135-37T>G) c.84-37T>G (n.84-37T>G) | gnomAD v4 |
15 | g.31070263A>G | CA7453103 | TRPM1 | c.18-37T>C (n.18-37T>C) c.135-37T>C (n.135-37T>C) c.84-37T>C (n.84-37T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070264T>A | CA2167784234 | TRPM1 | c.18-38A>T (n.18-38A>T) c.135-38A>T (n.135-38A>T) c.84-38A>T (n.84-38A>T) | dbSNP gnomAD v4 |
15 | g.31070264T= | CA2167784235 | TRPM1 | c.18-38A= (n.18-38A=) c.135-38A= (n.135-38A=) c.84-38A= (n.84-38A=) | |
15 | g.31070264_31070265insACA | CA2803611440 | TRPM1 | c.18-39_18-38insTGT (n.18-39_18-38insTGT) c.135-39_135-38insTGT (n.135-39_135-38insTGT) c.84-39_84-38insTGT (n.84-39_84-38insTGT) | |
15 | g.31070264_31070265insAGA | CA2803611441 | TRPM1 | c.18-39_18-38insTCT (n.18-39_18-38insTCT) c.135-39_135-38insTCT (n.135-39_135-38insTCT) c.84-39_84-38insTCT (n.84-39_84-38insTCT) | |
15 | g.31070265C= | CA2167784236 | TRPM1 | c.18-39G= (n.18-39G=) c.135-39G= (n.135-39G=) c.84-39G= (n.84-39G=) | |
15 | g.31070265C>T | CA7453104 | TRPM1 | c.18-39G>A (n.18-39G>A) c.135-39G>A (n.135-39G>A) c.84-39G>A (n.84-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070266T>C | CA2627517283 | TRPM1 | c.18-40A>G (n.18-40A>G) c.135-40A>G (n.135-40A>G) c.84-40A>G (n.84-40A>G) | gnomAD v4 |
15 | g.31070266T= | CA2167784237 | TRPM1 | c.18-40A= (n.18-40A=) c.135-40A= (n.135-40A=) c.84-40A= (n.84-40A=) | |
15 | g.31070267C= | CA2167784238 | TRPM1 | c.18-41G= (n.18-41G=) c.135-41G= (n.135-41G=) c.84-41G= (n.84-41G=) | |
15 | g.31070267C>T | CA2167784239 | TRPM1 | c.18-41G>A (n.18-41G>A) c.135-41G>A (n.135-41G>A) c.84-41G>A (n.84-41G>A) | dbSNP |
15 | g.31070271dup | CA711978977 | TRPM1 | c.18-41dup (n.18-41dup) c.135-41dup (n.135-41dup) c.84-41dup (n.84-41dup) | dbSNP |
15 | g.31070271del | CA2575744337 | TRPM1 | c.18-41del (n.18-41del) c.135-41del (n.135-41del) c.84-41del (n.84-41del) | |
15 | g.31070268_31070271del | CA2627517284 | TRPM1 | c.18-44_18-41del (n.18-44_18-41del) c.135-44_135-41del (n.135-44_135-41del) c.84-44_84-41del (n.84-44_84-41del) | gnomAD v4 |
15 | g.31070268C>T | CA655983541 | TRPM1 | c.18-42G>A (n.18-42G>A) c.135-42G>A (n.135-42G>A) c.84-42G>A (n.84-42G>A) | COSMIC |
15 | g.31070270C>A | CA2575744338 | TRPM1 | c.18-44G>T (n.18-44G>T) c.135-44G>T (n.135-44G>T) c.84-44G>T (n.84-44G>T) | |
15 | g.31070270C= | CA2167784240 | TRPM1 | c.18-44G= (n.18-44G=) c.135-44G= (n.135-44G=) c.84-44G= (n.84-44G=) | |
15 | g.31070270C>T | CA7453105 | TRPM1 | c.18-44G>A (n.18-44G>A) c.135-44G>A (n.135-44G>A) c.84-44G>A (n.84-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070270_31070271insACA | CA2803611442 | TRPM1 | c.18-45_18-44insTGT (n.18-45_18-44insTGT) c.135-45_135-44insTGT (n.135-45_135-44insTGT) c.84-45_84-44insTGT (n.84-45_84-44insTGT) | |
15 | g.31070271C= | CA2167784241 | TRPM1 | c.18-45G= (n.18-45G=) c.135-45G= (n.135-45G=) c.84-45G= (n.84-45G=) | |
15 | g.31070271C>G | CA617553167 | TRPM1 | c.18-45G>C (n.18-45G>C) c.135-45G>C (n.135-45G>C) c.84-45G>C (n.84-45G>C) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070272T>C | CA7453106 | TRPM1 | c.18-46A>G (n.18-46A>G) c.135-46A>G (n.135-46A>G) c.84-46A>G (n.84-46A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070272T= | CA2167784242 | TRPM1 | c.18-46A= (n.18-46A=) c.135-46A= (n.135-46A=) c.84-46A= (n.84-46A=) | |
15 | g.31070274T>A | CA2803611443 | TRPM1 | c.18-48A>T (n.18-48A>T) c.135-48A>T (n.135-48A>T) c.84-48A>T (n.84-48A>T) | |
15 | g.31070274T>C | CA617553168 | TRPM1 | c.18-48A>G (n.18-48A>G) c.135-48A>G (n.135-48A>G) c.84-48A>G (n.84-48A>G) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070274T= | CA2167784243 | TRPM1 | c.18-48A= (n.18-48A=) c.135-48A= (n.135-48A=) c.84-48A= (n.84-48A=) | |
15 | g.31070275C>T | CA2627517287 | TRPM1 | c.18-49G>A (n.18-49G>A) c.135-49G>A (n.135-49G>A) c.84-49G>A (n.84-49G>A) | gnomAD v4 |
15 | g.31070275_31070278del | CA2627517286 | TRPM1 | c.18-52_18-49del (n.18-52_18-49del) c.135-52_135-49del (n.135-52_135-49del) c.84-52_84-49del (n.84-52_84-49del) | gnomAD v4 |
15 | g.31070278del | CA2627517285 | TRPM1 | c.18-49del (n.18-49del) c.135-49del (n.135-49del) c.84-49del (n.84-49del) | gnomAD v4 |
15 | g.31070275_31070281del | CA2803611444 | TRPM1 | c.18-55_18-49del (n.18-55_18-49del) c.135-55_135-49del (n.135-55_135-49del) c.84-55_84-49del (n.84-55_84-49del) | |
15 | g.31070276C= | CA2167784244 | TRPM1 | c.18-50G= (n.18-50G=) c.135-50G= (n.135-50G=) c.84-50G= (n.84-50G=) | |
15 | g.31070276C>T | CA2167784245 | TRPM1 | c.18-50G>A (n.18-50G>A) c.135-50G>A (n.135-50G>A) c.84-50G>A (n.84-50G>A) | dbSNP |
15 | g.31070278C= | CA2167784246 | TRPM1 | c.18-52G= (n.18-52G=) c.135-52G= (n.135-52G=) c.84-52G= (n.84-52G=) | |
15 | g.31070278C>T | CA617553169 | TRPM1 | c.18-52G>A (n.18-52G>A) c.135-52G>A (n.135-52G>A) c.84-52G>A (n.84-52G>A) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070279T>G | CA2627517288 | TRPM1 | c.18-53A>C (n.18-53A>C) c.135-53A>C (n.135-53A>C) c.84-53A>C (n.84-53A>C) | gnomAD v4 |
15 | g.31070279_31070280insAG | CA2803611445 | TRPM1 | c.18-54_18-53insCT (n.18-54_18-53insCT) c.135-54_135-53insCT (n.135-54_135-53insCT) c.84-54_84-53insCT (n.84-54_84-53insCT) | |
15 | g.31070281C>A | CA2627517289 | TRPM1 | c.18-55G>T (n.18-55G>T) c.135-55G>T (n.135-55G>T) c.84-55G>T (n.84-55G>T) | gnomAD v4 |
15 | g.31070281C= | CA2167784247 | TRPM1 | c.18-55G= (n.18-55G=) c.135-55G= (n.135-55G=) c.84-55G= (n.84-55G=) | |
15 | g.31070281C>T | CA267502286 | TRPM1 | c.18-55G>A (n.18-55G>A) c.135-55G>A (n.135-55G>A) c.84-55G>A (n.84-55G>A) | dbSNP gnomAD v4 |
15 | g.31070282A>G | CA2842650110 | TRPM1 | c.18-56T>C (n.18-56T>C) c.135-56T>C (n.135-56T>C) c.84-56T>C (n.84-56T>C) | |
15 | g.31070282_31070283del | CA2627517290 | TRPM1 | c.18-57_18-56del (n.18-57_18-56del) c.135-57_135-56del (n.135-57_135-56del) c.84-57_84-56del (n.84-57_84-56del) | gnomAD v4 |
15 | g.31070283T>C | CA711978996 | TRPM1 | c.18-57A>G (n.18-57A>G) c.135-57A>G (n.135-57A>G) c.84-57A>G (n.84-57A>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070283T>G | CA2803611447 | TRPM1 | c.18-57A>C (n.18-57A>C) c.135-57A>C (n.135-57A>C) c.84-57A>C (n.84-57A>C) | |
15 | g.31070283T= | CA2167784248 | TRPM1 | c.18-57A= (n.18-57A=) c.135-57A= (n.135-57A=) c.84-57A= (n.84-57A=) | |
15 | g.31070283_31070284insACA | CA2803611448 | TRPM1 | c.18-58_18-57insTGT (n.18-58_18-57insTGT) c.135-58_135-57insTGT (n.135-58_135-57insTGT) c.84-58_84-57insTGT (n.84-58_84-57insTGT) | |
15 | g.31070284T>A | CA2627517291 | TRPM1 | c.18-58A>T (n.18-58A>T) c.135-58A>T (n.135-58A>T) c.84-58A>T (n.84-58A>T) | gnomAD v4 |
15 | g.31070284T>G | CA2627517292 | TRPM1 | c.18-58A>C (n.18-58A>C) c.135-58A>C (n.135-58A>C) c.84-58A>C (n.84-58A>C) | gnomAD v4 |
15 | g.31070285A>C | CA2803611449 | TRPM1 | c.18-59T>G (n.18-59T>G) c.135-59T>G (n.135-59T>G) c.84-59T>G (n.84-59T>G) | |
15 | g.31070286G>A | CA2803611451 | TRPM1 | c.18-60C>T (n.18-60C>T) c.135-60C>T (n.135-60C>T) c.84-60C>T (n.84-60C>T) | |
15 | g.31070286G>C | CA711978997 | TRPM1 | c.18-60C>G (n.18-60C>G) c.135-60C>G (n.135-60C>G) c.84-60C>G (n.84-60C>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070286G= | CA2167784249 | TRPM1 | c.18-60C= (n.18-60C=) c.135-60C= (n.135-60C=) c.84-60C= (n.84-60C=) | |
15 | g.31070286G>T | CA2627517293 | TRPM1 | c.18-60C>A (n.18-60C>A) c.135-60C>A (n.135-60C>A) c.84-60C>A (n.84-60C>A) | gnomAD v4 |
15 | g.31070287C>T | CA2627517295 | TRPM1 | c.18-61G>A (n.18-61G>A) c.135-61G>A (n.135-61G>A) c.84-61G>A (n.84-61G>A) | gnomAD v4 |
15 | g.31070287_31070292del | CA2627517294 | TRPM1 | c.18-66_18-61del (n.18-66_18-61del) c.135-66_135-61del (n.135-66_135-61del) c.84-66_84-61del (n.84-66_84-61del) | gnomAD v4 |
15 | g.31070288A>G | CA2627517296 | TRPM1 | c.18-62T>C (n.18-62T>C) c.135-62T>C (n.135-62T>C) c.84-62T>C (n.84-62T>C) | gnomAD v4 |