Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAA | CA2242009296 | MC1R | c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=) | |
16 | g.89919328_89919348del | CA624455298 | MC1R | c.70_90del (p.Leu24_Gln30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919336G>A | CA497380619 | MC1R | c.78G>A (p.Leu26=) | |
16 | g.89919336G>C | CA497380621 | MC1R | c.78G>C (p.Leu26=) | |
16 | g.89919336G>T | CA497380623 | MC1R | c.78G>T (p.Leu26=) | |
16 | g.89919337G>A | CA397459203 | MC1R | c.79G>A (p.Ala27Thr) | |
16 | g.89919337G>C | CA397459205 | MC1R | c.79G>C (p.Ala27Pro) | |
16 | g.89919337G>T | CA397459207 | MC1R | c.79G>T (p.Ala27Ser) | |
16 | g.89919338C>A | CA8255478 | MC1R | c.80C>A (p.Ala27Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919338C= | CA2242009305 | MC1R | c.80C= (p.Ala27=) | |
16 | g.89919338C>G | CA397459211 | MC1R | c.80C>G (p.Ala27Gly) | |
16 | g.89919338C>T | CA397459213 | MC1R | c.80C>T (p.Ala27Val) | gnomAD v4 |
16 | g.89919339T>A | CA497380638 | MC1R | c.81T>A (p.Ala27=) | |
16 | g.89919339T>C | CA497380639 | MC1R | c.81T>C (p.Ala27=) | |
16 | g.89919339T>G | CA497380640 | MC1R | c.81T>G (p.Ala27=) | |
16 | g.89919340G>A | CA8255479 | MC1R | c.82G>A (p.Ala28Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919340G>C | CA397459215 | MC1R | c.82G>C (p.Ala28Pro) | gnomAD v4 |
16 | g.89919340G= | CA2242009306 | MC1R | c.82G= (p.Ala28=) | |
16 | g.89919340G>T | CA397459217 | MC1R | c.82G>T (p.Ala28Ser) | |
16 | g.89919341C>A | CA397459221 | MC1R | c.83C>A (p.Ala28Asp) | |
16 | g.89919341C>G | CA397459224 | MC1R | c.83C>G (p.Ala28Gly) | |
16 | g.89919341C>T | CA397459223 | MC1R | c.83C>T (p.Ala28Val) | |
16 | g.89919341_89919342insA | CA286607354 | MC1R | c.83_84insA (p.Asn29GlnfsTer14) | |
16 | g.89919342C>A | CA497380645 | MC1R | c.84C>A (p.Ala28=) | |
16 | g.89919342C= | CA2242009307 | MC1R | c.84C= (p.Ala28=) | |
16 | g.89919342C>G | CA497380646 | MC1R | c.84C>G (p.Ala28=) | |
16 | g.89919342C>T | CA497380647 | MC1R | c.84C>T (p.Ala28=) | gnomAD v4 |
16 | g.89919343A= | CA2242009308 | MC1R | c.85A= (p.Asn29=) | |
16 | g.89919343A>C | CA397459228 | MC1R | c.85A>C (p.Asn29His) | |
16 | g.89919343A>G | CA286607357 | MC1R | c.85A>G (p.Asn29Asp) | dbSNP |
16 | g.89919343A>T | CA397459230 | MC1R | c.85A>T (p.Asn29Tyr) | |
16 | g.89919344dup | CA8255480 | MC1R | c.86dup (p.Asn29LysfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919344del | CA2732931170 | MC1R | c.86del (p.Asn29ThrfsTer23) | dbSNP |
16 | g.89919344A= | CA2242009309 | MC1R | c.86A= (p.Asn29=) | |
16 | g.89919344A>C | CA397459233 | MC1R | c.86A>C (p.Asn29Thr) | |
16 | g.89919344A>G | CA397459235 | MC1R | c.86A>G (p.Asn29Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.89919344A>T | CA397459238 | MC1R | c.86A>T (p.Asn29Ile) | |
16 | g.89919345C>A | CA397459241 | MC1R | c.87C>A (p.Asn29Lys) | gnomAD v4 |
16 | g.89919345C= | CA2242009310 | MC1R | c.87C= (p.Asn29=) | |
16 | g.89919345C>G | CA286607359 | MC1R | c.87C>G (p.Asn29Lys) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919345C>T | CA497380655 | MC1R | c.87C>T (p.Asn29=) | |
16 | g.89919346C>A | CA397459245 | MC1R | c.88C>A (p.Gln30Lys) | gnomAD v4 |
16 | g.89919346C= | CA2242009311 | MC1R | c.88C= (p.Gln30=) | |
16 | g.89919346C>G | CA397459247 | MC1R | c.88C>G (p.Gln30Glu) | |
16 | g.89919346C>T | CA8255481 | MC1R | c.88C>T (p.Gln30Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919347A>C | CA397459249 | MC1R | c.89A>C (p.Gln30Pro) | |
16 | g.89919347A>G | CA397459251 | MC1R | c.89A>G (p.Gln30Arg) | gnomAD v4 |
16 | g.89919347A>T | CA397459254 | MC1R | c.89A>T (p.Gln30Leu) | |
16 | g.89919348G>A | CA497380657 | MC1R | c.90G>A (p.Gln30=) | |
16 | g.89919348G>C | CA397459257 | MC1R | c.90G>C (p.Gln30His) | dbSNP gnomAD v3 gnomAD v4 |