Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919541_89919543del | CA2733059078 | MC1R | c.283_285del (p.Thr95del) | dbSNP |
16 | g.89919544_89919547del | CA2635065652 | MC1R | c.286_289del (p.Ala96SerfsTer26) | gnomAD v4 |
16 | g.89919543G>A | CA8255547 | MC1R | c.285G>A (p.Thr95=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919543G>C | CA497380184 | MC1R | c.285G>C (p.Thr95=) | gnomAD v4 |
16 | g.89919543G= | CA2242009435 | MC1R | c.285G= (p.Thr95=) | |
16 | g.89919543G>T | CA497380185 | MC1R | c.285G>T (p.Thr95=) | |
16 | g.89919544G>A | CA397460210 | MC1R | c.286G>A (p.Ala96Thr) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919544G>C | CA397460212 | MC1R | c.286G>C (p.Ala96Pro) | |
16 | g.89919544G= | CA2242009436 | MC1R | c.286G= (p.Ala96=) | |
16 | g.89919544G>T | CA397460213 | MC1R | c.286G>T (p.Ala96Ser) | gnomAD v4 |
16 | g.89919545C>A | CA397460215 | MC1R | c.287C>A (p.Ala96Asp) | gnomAD v4 COSMIC |
16 | g.89919545C>G | CA397460221 | MC1R | c.287C>G (p.Ala96Gly) | |
16 | g.89919545C>T | CA397460219 | MC1R | c.287C>T (p.Ala96Val) | gnomAD v4 |
16 | g.89919546C>A | CA497380188 | MC1R | c.288C>A (p.Ala96=) | |
16 | g.89919546C= | CA2242009437 | MC1R | c.288C= (p.Ala96=) | |
16 | g.89919546C>G | CA497380187 | MC1R | c.288C>G (p.Ala96=) | |
16 | g.89919546C>T | CA8255548 | MC1R | c.288C>T (p.Ala96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919547G>A | CA397460224 | MC1R | c.289G>A (p.Val97Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919547G>C | CA397460225 | MC1R | c.289G>C (p.Val97Leu) | |
16 | g.89919547G= | CA2242009438 | MC1R | c.289G= (p.Val97=) | |
16 | g.89919547G>T | CA397460227 | MC1R | c.289G>T (p.Val97Phe) | |
16 | g.89919548T>A | CA397460228 | MC1R | c.290T>A (p.Val97Asp) | |
16 | g.89919548T>C | CA397460230 | MC1R | c.290T>C (p.Val97Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919548T>G | CA397460232 | MC1R | c.290T>G (p.Val97Gly) | |
16 | g.89919548T= | CA2242009439 | MC1R | c.290T= (p.Val97=) | |
16 | g.89919549C>A | CA497380191 | MC1R | c.291C>A (p.Val97=) | |
16 | g.89919549C>G | CA497380192 | MC1R | c.291C>G (p.Val97=) | |
16 | g.89919549C>T | CA497380193 | MC1R | c.291C>T (p.Val97=) | gnomAD v4 |
16 | g.89919550A= | CA2242009440 | MC1R | c.292A= (p.Ile98=) | |
16 | g.89919550A>C | CA397460233 | MC1R | c.292A>C (p.Ile98Leu) | |
16 | g.89919550A>G | CA8255550 | MC1R | c.292A>G (p.Ile98Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919550A>T | CA397460235 | MC1R | c.292A>T (p.Ile98Phe) | |
16 | g.89919550_89919553delinsATCC | CA2242009441 | MC1R | c.292_295delinsATCC (p.Ile98=) | |
16 | g.89919551T>A | CA397460238 | MC1R | c.293T>A (p.Ile98Asn) | |
16 | g.89919551T>C | CA397460243 | MC1R | c.293T>C (p.Ile98Thr) | |
16 | g.89919551T>G | CA397460242 | MC1R | c.293T>G (p.Ile98Ser) | |
16 | g.89919555_89919557del | CA8255549 | MC1R | c.297_299del (p.Leu100del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919552C>A | CA497380198 | MC1R | c.294C>A (p.Ile98=) | gnomAD v4 |
16 | g.89919552C= | CA2242009442 | MC1R | c.294C= (p.Ile98=) | |
16 | g.89919552C>G | CA397460245 | MC1R | c.294C>G (p.Ile98Met) | |
16 | g.89919552C>T | CA286607451 | MC1R | c.294C>T (p.Ile98=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919553C>A | CA8255551 | MC1R | c.295C>A (p.Leu99Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919553C= | CA2242009443 | MC1R | c.295C= (p.Leu99=) | |
16 | g.89919553C>G | CA397460246 | MC1R | c.295C>G (p.Leu99Val) | gnomAD v4 |
16 | g.89919553C>T | CA397460248 | MC1R | c.295C>T (p.Leu99Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919554T>A | CA397460253 | MC1R | c.296T>A (p.Leu99His) | |
16 | g.89919554T>C | CA8255552 | MC1R | c.296T>C (p.Leu99Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919554T>G | CA397460256 | MC1R | c.296T>G (p.Leu99Arg) | |
16 | g.89919554T= | CA2242009444 | MC1R | c.296T= (p.Leu99=) | |
16 | g.89919555C>A | CA497380200 | MC1R | c.297C>A (p.Leu99=) |