Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919505T>A | CA397460086 | MC1R | c.247T>A (p.Ser83Thr) | |
16 | g.89919505T>C | CA8255535 | MC1R | c.247T>C (p.Ser83Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919505T>G | CA397460088 | MC1R | c.247T>G (p.Ser83Ala) | |
16 | g.89919505T= | CA2242009413 | MC1R | c.247T= (p.Ser83=) | |
16 | g.89919506C>A | CA397460090 | MC1R | c.248C>A (p.Ser83Ter) | |
16 | g.89919506C= | CA2242009414 | MC1R | c.248C= (p.Ser83=) | |
16 | g.89919506C>G | CA397460092 | MC1R | c.248C>G (p.Ser83Trp) | dbSNP |
16 | g.89919506C>T | CA8255536 | MC1R | c.248C>T (p.Ser83Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919507G>A | CA8255537 | MC1R | c.249G>A (p.Ser83=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919507G>C | CA497380146 | MC1R | c.249G>C (p.Ser83=) | |
16 | g.89919507G= | CA2242009415 | MC1R | c.249G= (p.Ser83=) | |
16 | g.89919507G>T | CA497380147 | MC1R | c.249G>T (p.Ser83=) | |
16 | g.89919510_89919526del | CA2635065510 | MC1R | c.252_268del (p.Asp84GlufsTer?) | gnomAD v4 |
16 | g.89919508G>A | CA8255538 | MC1R | c.250G>A (p.Asp84Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919508G>C | CA397460096 | MC1R | c.250G>C (p.Asp84His) | |
16 | g.89919508G= | CA2242009416 | MC1R | c.250G= (p.Asp84=) | |
16 | g.89919508G>T | CA397460098 | MC1R | c.250G>T (p.Asp84Tyr) | |
16 | g.89919509A= | CA2242009417 | MC1R | c.251A= (p.Asp84=) | |
16 | g.89919509A>C | CA397460099 | MC1R | c.251A>C (p.Asp84Ala) | dbSNP |
16 | g.89919509A>G | CA397460103 | MC1R | c.251A>G (p.Asp84Gly) | |
16 | g.89919509A>T | CA397460101 | MC1R | c.251A>T (p.Asp84Val) | |
16 | g.89919510C>A | CA123865 | MC1R | c.252C>A (p.Asp84Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919510C= | CA2242009418 | MC1R | c.252C= (p.Asp84=) | |
16 | g.89919510C>G | CA8255539 | MC1R | c.252C>G (p.Asp84Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919510C>T | CA497380149 | MC1R | c.252C>T (p.Asp84=) | |
16 | g.89919511C>A | CA397460104 | MC1R | c.253C>A (p.Leu85Met) | |
16 | g.89919511C= | CA2242009419 | MC1R | c.253C= (p.Leu85=) | |
16 | g.89919511C>G | CA397460105 | MC1R | c.253C>G (p.Leu85Val) | dbSNP |
16 | g.89919511C>T | CA497380150 | MC1R | c.253C>T (p.Leu85=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919512T>A | CA397460108 | MC1R | c.254T>A (p.Leu85Gln) | |
16 | g.89919512T>C | CA397460109 | MC1R | c.254T>C (p.Leu85Pro) | gnomAD v4 |
16 | g.89919512T>G | CA397460111 | MC1R | c.254T>G (p.Leu85Arg) | |
16 | g.89919513G>A | CA497380151 | MC1R | c.255G>A (p.Leu85=) | |
16 | g.89919513G>C | CA497380152 | MC1R | c.255G>C (p.Leu85=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919513G= | CA2242009420 | MC1R | c.255G= (p.Leu85=) | |
16 | g.89919513G>T | CA497380153 | MC1R | c.255G>T (p.Leu85=) | |
16 | g.89919514C>A | CA397460112 | MC1R | c.256C>A (p.Leu86Met) | |
16 | g.89919514C>G | CA397460114 | MC1R | c.256C>G (p.Leu86Val) | |
16 | g.89919514C>T | CA497380154 | MC1R | c.256C>T (p.Leu86=) | |
16 | g.89919515T>A | CA397460116 | MC1R | c.257T>A (p.Leu86Gln) | |
16 | g.89919515T>C | CA397460118 | MC1R | c.257T>C (p.Leu86Pro) | |
16 | g.89919515T>G | CA397460119 | MC1R | c.257T>G (p.Leu86Arg) | |
16 | g.89919517_89919519dup | CA2635065542 | MC1R | c.259_261dup (p.Val87_Ser88insVal) | gnomAD v4 |
16 | g.89919516G>A | CA497380156 | MC1R | c.258G>A (p.Leu86=) | gnomAD v4 |
16 | g.89919516G>C | CA497380157 | MC1R | c.258G>C (p.Leu86=) | |
16 | g.89919516G>T | CA497380158 | MC1R | c.258G>T (p.Leu86=) | gnomAD v4 |
16 | g.89919517G>A | CA397460124 | MC1R | c.259G>A (p.Val87Met) | gnomAD v4 |
16 | g.89919517G>C | CA397460121 | MC1R | c.259G>C (p.Val87Leu) | gnomAD v4 |
16 | g.89919517G>T | CA397460123 | MC1R | c.259G>T (p.Val87Leu) | gnomAD v4 |
16 | g.89919518T>A | CA397460126 | MC1R | c.260T>A (p.Val87Glu) |