Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.89919802_89920805del | CA916083514 | MC1R | c.544_*593del (n.[c.544_*593del;Tyr182LeufsTer?]) c.544_*17del c.544_1098+68del | ClinVar |
16 | g.89919802_89920802delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA | CA2242009630 | MC1R | c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA (n.[c.544_*590delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA;Tyr182=]) c.544_*14delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA c.544_1098+65delinsTACTACGACCACGTGGCCGTCCTGCTGTGCCTCGTGGTCTTCTTCCTGGCTATGCTGGTGCTCATGGCCGTGCTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCAGGGCATCGCCCGGCTCCACAAGAGGCAGCGCCCGGTCCACCAGGGCTTTGGCCTTAAAGGCGCTGTCACCCTCACCATCCTGCTGGGCATTTTCTTCCTCTGCTGGGGCCCCTTCTTCCTGCATCTCACACTCATCGTCCTCTGCCCCGAGCACCCCACGTGCGGCTGCATCTTCAAGAACTTCAACCTCTTTCTCGCCCTCATCATCTGCAATGCCATCATCGACCCCCTCATCTACGCCTTCCACAGCCAGGAGCTCCGCAGGACGCTCAAGGAGGTGCTGACATGCTCCTGGTGAGCGCGGTGCACGCGGCTTTAAGTGTGCTGGGCAGAGGGAGGTGGTGATATTGTGTGGTCTGGTTCCTGTGTGACCCTGGGCAGTTCCTTACCTCCCTGGTCCCCGTTTGTCAAAGAGGATGGACTAAATGATCTCTGAAAGTGTTGAAGCGCGGACCCTTCTGGGTCCAGGGAGGGGTCCCTGCAAAACTCCAGGCAGGACTTCTCACCAGCAGTCGTGGGGAACGGAGGAGGACATGGGGAGGTTGTGGGGCCTCAGGCTCCGGGCACCAGGGGCCAACCTCAGGCTCCTAAAGAGACATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGACTGAGCAGCATCCACCCCACCCCATCTTTGCTGCCAGCTCTCAGGACCGTGCCCTCGTCAGCTGGGATGTGAAGTCTCTGGGTGGAAGTGTGTGCCAAGAGCTACTCCCACAGCAGCCCCAGGAGAAGGGGCTTTGTGACCAGAAAGCTTCATCCACAGCCTTGCAGCGGCTCCTGCAAAAGGAGGTGAAATCCCTGCCTCAGGCCAAGGGACCAGGTTTGCAGGAGCCCCCCTAGTGGTATGGGGCTGA | |
16 | g.89919803_89920802del | CA658798660 | MC1R | c.545_*590del (n.[c.545_*590del;Tyr182CysfsTer8]) c.545_*14del c.545_1098+65del | ClinVar dbSNP |
16 | g.89920115_89920142del | CA624455327 | MC1R | c.857_884del (p.Leu286ProfsTer19) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920144del | CA2242009865 | MC1R | c.886del (p.Leu296SerfsTer18) | dbSNP |
16 | g.89920141C>A | CA397463694 | MC1R | c.883C>A (p.Pro295Thr) | |
16 | g.89920141C= | CA2242009867 | MC1R | c.883C= (p.Pro295=) | |
16 | g.89920141C>G | CA397463697 | MC1R | c.883C>G (p.Pro295Ala) | ClinVar dbSNP |
16 | g.89920141C>T | CA286607714 | MC1R | c.883C>T (p.Pro295Ser) | ClinVar dbSNP gnomAD v4 |
16 | g.89920142C>A | CA397463700 | MC1R | c.884C>A (p.Pro295His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920142C= | CA2242009868 | MC1R | c.884C= (p.Pro295=) | |
16 | g.89920142C>G | CA397463702 | MC1R | c.884C>G (p.Pro295Arg) | |
16 | g.89920142C>T | CA397463703 | MC1R | c.884C>T (p.Pro295Leu) | gnomAD v4 |
16 | g.89920143C>A | CA497380602 | MC1R | c.885C>A (p.Pro295=) | |
16 | g.89920143C= | CA2242009869 | MC1R | c.885C= (p.Pro295=) | |
16 | g.89920143C>G | CA8255794 | MC1R | c.885C>G (p.Pro295=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920143C>T | CA497380603 | MC1R | c.885C>T (p.Pro295=) | |
16 | g.89920143_89920145delinsCCT | CA2242009870 | MC1R | c.885_887delinsCCT (p.Pro295=) | |
16 | g.89920144C>A | CA397463705 | MC1R | c.886C>A (p.Leu296Ile) | gnomAD v4 |
16 | g.89920144C= | CA2242009871 | MC1R | c.886C= (p.Leu296=) | |
16 | g.89920144C>G | CA397463707 | MC1R | c.886C>G (p.Leu296Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920144C>T | CA397463710 | MC1R | c.886C>T (p.Leu296Phe) | |
16 | g.89920145_89920146del | CA624455424 | MC1R | c.887_888del (p.Leu296HisfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920144_89920145insCCCAACCAAACACACCCAACA | CA2808106409 | MC1R | c.886_887insCCCAACCAAACACACCCAACA (p.Leu296delinsProGlnProAsnThrProAsnIle) | |
16 | g.89920145T>A | CA397463712 | MC1R | c.887T>A (p.Leu296His) | |
16 | g.89920145T>C | CA397463716 | MC1R | c.887T>C (p.Leu296Pro) | |
16 | g.89920145T>G | CA397463721 | MC1R | c.887T>G (p.Leu296Arg) | |
16 | g.89920146C>A | CA497380609 | MC1R | c.888C>A (p.Leu296=) | |
16 | g.89920146C= | CA2242009872 | MC1R | c.888C= (p.Leu296=) | |
16 | g.89920146C>G | CA497380611 | MC1R | c.888C>G (p.Leu296=) | |
16 | g.89920146C>T | CA286607717 | MC1R | c.888C>T (p.Leu296=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920146_89920147insGAG | CA624455425 | MC1R | c.888_889insGAG (p.Leu296_Ile297insGlu) | gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920147A= | CA2242009873 | MC1R | c.889A= (p.Ile297=) | |
16 | g.89920147A>C | CA397463732 | MC1R | c.889A>C (p.Ile297Leu) | |
16 | g.89920147A>G | CA8255795 | MC1R | c.889A>G (p.Ile297Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920147A>T | CA397463731 | MC1R | c.889A>T (p.Ile297Phe) | |
16 | g.89920148T>A | CA397463737 | MC1R | c.890T>A (p.Ile297Asn) | |
16 | g.89920148T>C | CA397463740 | MC1R | c.890T>C (p.Ile297Thr) | |
16 | g.89920148T>G | CA397463742 | MC1R | c.890T>G (p.Ile297Ser) | |
16 | g.89920149C>A | CA497380616 | MC1R | c.891C>A (p.Ile297=) | |
16 | g.89920149C= | CA2242009874 | MC1R | c.891C= (p.Ile297=) | |
16 | g.89920149C>G | CA397463743 | MC1R | c.891C>G (p.Ile297Met) | gnomAD v4 |
16 | g.89920149C>T | CA497380617 | MC1R | c.891C>T (p.Ile297=) | dbSNP |
16 | g.89920150T>A | CA397463745 | MC1R | c.892T>A (p.Tyr298Asn) | |
16 | g.89920150T>C | CA8255796 | MC1R | c.892T>C (p.Tyr298His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920150T>G | CA8255797 | MC1R | c.892T>G (p.Tyr298Asp) | dbSNP ExAC gnomAD v2 |
16 | g.89920150T= | CA2242009875 | MC1R | c.892T= (p.Tyr298=) | |
16 | g.89920151A= | CA2242009876 | MC1R | c.893A= (p.Tyr298=) | |
16 | g.89920151A>C | CA397463751 | MC1R | c.893A>C (p.Tyr298Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920151A>G | CA397463752 | MC1R | c.893A>G (p.Tyr298Cys) | |
16 | g.89920151A>T | CA397463754 | MC1R | c.893A>T (p.Tyr298Phe) | dbSNP |
16 | g.89920152C>A | CA397463758 | MC1R | c.894C>A (p.Tyr298Ter) | gnomAD v4 |
16 | g.89920152C= | CA2242009877 | MC1R | c.894C= (p.Tyr298=) | |
16 | g.89920152C>G | CA8255800 | MC1R | c.894C>G (p.Tyr298Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920152C>T | CA8255799 | MC1R | c.894C>T (p.Tyr298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920152_89920153insATCGACCCCCTCATCCTG | CA8255798 | MC1R | c.894_895insATCGACCCCCTCATCCTG (p.Tyr298_Ala299insIleAspProLeuIleLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920153G>A | CA8255802 | MC1R | c.895G>A (p.Ala299Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920153G>C | CA397463761 | MC1R | c.895G>C (p.Ala299Pro) | |
16 | g.89920153G= | CA2242009878 | MC1R | c.895G= (p.Ala299=) | |
16 | g.89920153G>T | CA8255801 | MC1R | c.895G>T (p.Ala299Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920154C>A | CA397463765 | MC1R | c.896C>A (p.Ala299Asp) | |
16 | g.89920154C= | CA2242009879 | MC1R | c.896C= (p.Ala299=) | |
16 | g.89920154C>G | CA397463766 | MC1R | c.896C>G (p.Ala299Gly) | |
16 | g.89920154C>T | CA8255803 | MC1R | c.896C>T (p.Ala299Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920155C>A | CA497380631 | MC1R | c.897C>A (p.Ala299=) | |
16 | g.89920155C= | CA2242009880 | MC1R | c.897C= (p.Ala299=) | |
16 | g.89920155C>G | CA8255804 | MC1R | c.897C>G (p.Ala299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920155C>T | CA497380630 | MC1R | c.897C>T (p.Ala299=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920156T>A | CA397463773 | MC1R | c.898T>A (p.Phe300Ile) | |
16 | g.89920156T>C | CA397463776 | MC1R | c.898T>C (p.Phe300Leu) | |
16 | g.89920156T>G | CA397463779 | MC1R | c.898T>G (p.Phe300Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920156T= | CA2242009881 | MC1R | c.898T= (p.Phe300=) | |
16 | g.89920157T>A | CA397463781 | MC1R | c.899T>A (p.Phe300Tyr) | |
16 | g.89920157T>C | CA397463784 | MC1R | c.899T>C (p.Phe300Ser) | |
16 | g.89920157T>G | CA8255805 | MC1R | c.899T>G (p.Phe300Cys) | dbSNP ExAC gnomAD v2 |
16 | g.89920157T= | CA2242009882 | MC1R | c.899T= (p.Phe300=) | |
16 | g.89920158C>A | CA397463792 | MC1R | c.900C>A (p.Phe300Leu) | |
16 | g.89920158C= | CA2242009883 | MC1R | c.900C= (p.Phe300=) | |
16 | g.89920158C>G | CA397463794 | MC1R | c.900C>G (p.Phe300Leu) | gnomAD v4 |
16 | g.89920158C>T | CA8255806 | MC1R | c.900C>T (p.Phe300=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920158_89920159delinsTT | CA645578194 | MC1R | c.900_901delinsTT (p.His301Tyr) | COSMIC |
16 | g.89920159dup | CA624455426 | MC1R | c.901dup (p.His301ProfsTer?) | gnomAD v2 gnomAD v4 |
16 | g.89920159C>A | CA397463804 | MC1R | c.901C>A (p.His301Asn) | |
16 | g.89920159C>G | CA397463797 | MC1R | c.901C>G (p.His301Asp) | |
16 | g.89920159C>T | CA397463800 | MC1R | c.901C>T (p.His301Tyr) | |
16 | g.89920160A= | CA2242009884 | MC1R | c.902A= (p.His301=) | |
16 | g.89920160A>C | CA397463807 | MC1R | c.902A>C (p.His301Pro) | |
16 | g.89920160A>G | CA397463809 | MC1R | c.902A>G (p.His301Arg) | dbSNP gnomAD v4 |
16 | g.89920160A>T | CA397463812 | MC1R | c.902A>T (p.His301Leu) | |
16 | g.89920161C>A | CA397463815 | MC1R | c.903C>A (p.His301Gln) | |
16 | g.89920161C= | CA2242009885 | MC1R | c.903C= (p.His301=) | |
16 | g.89920161C>G | CA397463817 | MC1R | c.903C>G (p.His301Gln) | |
16 | g.89920161C>T | CA8255807 | MC1R | c.903C>T (p.His301=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920162A>C | CA397463819 | MC1R | c.904A>C (p.Ser302Arg) | |
16 | g.89920162A>G | CA397463821 | MC1R | c.904A>G (p.Ser302Gly) | |
16 | g.89920162A>T | CA397463824 | MC1R | c.904A>T (p.Ser302Cys) | |
16 | g.89920163G>A | CA397463826 | MC1R | c.905G>A (p.Ser302Asn) | gnomAD v4 |
16 | g.89920163G>C | CA397463829 | MC1R | c.905G>C (p.Ser302Thr) | |
16 | g.89920163G>T | CA397463837 | MC1R | c.905G>T (p.Ser302Ile) | |
16 | g.89920164C>A | CA397463841 | MC1R | c.906C>A (p.Ser302Arg) | gnomAD v4 COSMIC |
16 | g.89920164C= | CA2242009886 | MC1R | c.906C= (p.Ser302=) | |
16 | g.89920164C>G | CA397463838 | MC1R | c.906C>G (p.Ser302Arg) | |
16 | g.89920164C>T | CA497380641 | MC1R | c.906C>T (p.Ser302=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920165C>A | CA397463844 | MC1R | c.907C>A (p.Gln303Lys) | dbSNP |
16 | g.89920165C= | CA2242009887 | MC1R | c.907C= (p.Gln303=) | |
16 | g.89920165C>G | CA397463847 | MC1R | c.907C>G (p.Gln303Glu) | |
16 | g.89920165C>T | CA397463858 | MC1R | c.907C>T (p.Gln303Ter) | |
16 | g.89920166A= | CA2242009888 | MC1R | c.908A= (p.Gln303=) | |
16 | g.89920166A>C | CA397463862 | MC1R | c.908A>C (p.Gln303Pro) | |
16 | g.89920166A>G | CA8255808 | MC1R | c.908A>G (p.Gln303Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920166A>T | CA397463866 | MC1R | c.908A>T (p.Gln303Leu) | |
16 | g.89920167G>A | CA497380643 | MC1R | c.909G>A (p.Gln303=) | dbSNP |
16 | g.89920167G>C | CA397463868 | MC1R | c.909G>C (p.Gln303His) | |
16 | g.89920167G= | CA2242009889 | MC1R | c.909G= (p.Gln303=) | |
16 | g.89920167G>T | CA397463869 | MC1R | c.909G>T (p.Gln303His) | |
16 | g.89920168G>A | CA8255809 | MC1R | c.910G>A (p.Glu304Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920168G>C | CA397463870 | MC1R | c.910G>C (p.Glu304Gln) | |
16 | g.89920168G= | CA2242009890 | MC1R | c.910G= (p.Glu304=) | |
16 | g.89920168G>T | CA397463871 | MC1R | c.910G>T (p.Glu304Ter) | gnomAD v4 |
16 | g.89920169A= | CA2242009891 | MC1R | c.911A= (p.Glu304=) | |
16 | g.89920169A>C | CA397463872 | MC1R | c.911A>C (p.Glu304Ala) | |
16 | g.89920169A>G | CA397463874 | MC1R | c.911A>G (p.Glu304Gly) | |
16 | g.89920169A>T | CA8255810 | MC1R | c.911A>T (p.Glu304Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920170G>A | CA497380651 | MC1R | c.912G>A (p.Glu304=) | |
16 | g.89920170G>C | CA397463877 | MC1R | c.912G>C (p.Glu304Asp) | |
16 | g.89920170G= | CA2242009892 | MC1R | c.912G= (p.Glu304=) | |
16 | g.89920170G>T | CA397463879 | MC1R | c.912G>T (p.Glu304Asp) | dbSNP |
16 | g.89920171C>A | CA397463883 | MC1R | c.913C>A (p.Leu305Ile) | |
16 | g.89920171C= | CA2242009894 | MC1R | c.913C= (p.Leu305=) | |
16 | g.89920171C>G | CA397463889 | MC1R | c.913C>G (p.Leu305Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920171C>T | CA397463887 | MC1R | c.913C>T (p.Leu305Phe) | |
16 | g.89920171dup | CA2242009893 | MC1R | c.913dup (p.Leu305ProfsTer30) c.913dup (p.Leu305ProfsTer?) | dbSNP |
16 | g.89920172T>A | CA397463892 | MC1R | c.914T>A (p.Leu305His) | |
16 | g.89920172T>C | CA397463893 | MC1R | c.914T>C (p.Leu305Pro) | |
16 | g.89920172T>G | CA8255811 | MC1R | c.914T>G (p.Leu305Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920172T= | CA2242009895 | MC1R | c.914T= (p.Leu305=) | |
16 | g.89920173C>A | CA497380656 | MC1R | c.915C>A (p.Leu305=) | |
16 | g.89920173C>G | CA497380654 | MC1R | c.915C>G (p.Leu305=) | |
16 | g.89920173C>T | CA497380653 | MC1R | c.915C>T (p.Leu305=) | |
16 | g.89920174C>A | CA397463894 | MC1R | c.916C>A (p.Arg306Ser) | |
16 | g.89920174C= | CA2242009896 | MC1R | c.916C= (p.Arg306=) | |
16 | g.89920174C>G | CA397463895 | MC1R | c.916C>G (p.Arg306Gly) | gnomAD v4 |
16 | g.89920174C>T | CA8255812 | MC1R | c.916C>T (p.Arg306Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89920175G>A | CA8255813 | MC1R | c.917G>A (p.Arg306His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920175G>C | CA397463899 | MC1R | c.917G>C (p.Arg306Pro) | |
16 | g.89920175G= | CA2242009897 | MC1R | c.917G= (p.Arg306=) | |
16 | g.89920175G>T | CA397463901 | MC1R | c.917G>T (p.Arg306Leu) | |
16 | g.89920176_89920178del | CA2635067718 | MC1R | c.918_920del (p.Arg307del) | gnomAD v4 |
16 | g.89920176C>A | CA497380658 | MC1R | c.918C>A (p.Arg306=) | |
16 | g.89920176C>G | CA497380659 | MC1R | c.918C>G (p.Arg306=) | |
16 | g.89920176C>T | CA497380661 | MC1R | c.918C>T (p.Arg306=) | |
16 | g.89920176_89920179delinsCAGG | CA2242009898 | MC1R | c.918_921delinsCAGG (p.Arg306=) | |
16 | g.89920177A>C | CA497380662 | MC1R | c.919A>C (p.Arg307=) | |
16 | g.89920177A>G | CA397463903 | MC1R | c.919A>G (p.Arg307Gly) | gnomAD v4 |
16 | g.89920177A>T | CA397463906 | MC1R | c.919A>T (p.Arg307Trp) | |
16 | g.89920178_89920180del | CA919769666 | MC1R | c.920_922del (p.Arg307del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920177_89920181delinsAGGAC | CA2242009899 | MC1R | c.919_923delinsAGGAC (p.Arg307=) | |
16 | g.89920178G>A | CA397463918 | MC1R | c.920G>A (p.Arg307Lys) | |
16 | g.89920178G>C | CA397463911 | MC1R | c.920G>C (p.Arg307Thr) | |
16 | g.89920178G>T | CA397463909 | MC1R | c.920G>T (p.Arg307Met) | |
16 | g.89920178_89920181delinsCT | CA1139665005 | MC1R | c.920_923delinsCT (p.Arg307ThrfsTer27) c.920_923delinsCT (p.Arg307ThrfsTer?) | ClinVar dbSNP |
16 | g.89920179G>A | CA497380670 | MC1R | c.921G>A (p.Arg307=) | |
16 | g.89920179G>C | CA397463919 | MC1R | c.921G>C (p.Arg307Ser) | |
16 | g.89920179G= | CA2242009900 | MC1R | c.921G= (p.Arg307=) | |
16 | g.89920179G>T | CA397463922 | MC1R | c.921G>T (p.Arg307Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920180del | CA2733059858 | MC1R | c.922del (p.Thr308ArgfsTer6) | dbSNP |
16 | g.89920180A>C | CA397463924 | MC1R | c.922A>C (p.Thr308Pro) | |
16 | g.89920180A>G | CA397463925 | MC1R | c.922A>G (p.Thr308Ala) | |
16 | g.89920180A>T | CA397463929 | MC1R | c.922A>T (p.Thr308Ser) | |
16 | g.89920181C>A | CA397463935 | MC1R | c.923C>A (p.Thr308Lys) | |
16 | g.89920181C= | CA2242009901 | MC1R | c.923C= (p.Thr308=) | |
16 | g.89920181C>G | CA397463936 | MC1R | c.923C>G (p.Thr308Arg) | |
16 | g.89920181C>T | CA8255814 | MC1R | c.923C>T (p.Thr308Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920181_89920182insT | CA919769667 | MC1R | c.923_924insT (p.Leu309AlafsTer26) c.923_924insT (p.Leu309AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920182G>A | CA8255816 | MC1R | c.924G>A (p.Thr308=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920182G>C | CA497380677 | MC1R | c.924G>C (p.Thr308=) | |
16 | g.89920182G= | CA2242009902 | MC1R | c.924G= (p.Thr308=) | |
16 | g.89920182G>T | CA8255815 | MC1R | c.924G>T (p.Thr308=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920183C>A | CA397463948 | MC1R | c.925C>A (p.Leu309Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920183C= | CA2242009903 | MC1R | c.925C= (p.Leu309=) | |
16 | g.89920183C>G | CA397463951 | MC1R | c.925C>G (p.Leu309Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920183C>T | CA397463952 | MC1R | c.925C>T (p.Leu309Phe) | |
16 | g.89920184T>A | CA397463955 | MC1R | c.926T>A (p.Leu309His) | |
16 | g.89920184T>C | CA397463958 | MC1R | c.926T>C (p.Leu309Pro) | |
16 | g.89920184T>G | CA397463956 | MC1R | c.926T>G (p.Leu309Arg) | gnomAD v4 |
16 | g.89920185C>A | CA497380684 | MC1R | c.927C>A (p.Leu309=) | |
16 | g.89920185C= | CA2242009904 | MC1R | c.927C= (p.Leu309=) | |
16 | g.89920185C>G | CA497380686 | MC1R | c.927C>G (p.Leu309=) | ClinVar dbSNP gnomAD v4 |
16 | g.89920185C>T | CA497380687 | MC1R | c.927C>T (p.Leu309=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920186A= | CA2242009905 | MC1R | c.928A= (p.Lys310=) | |
16 | g.89920186A>C | CA286607737 | MC1R | c.928A>C (p.Lys310Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920186A>G | CA397463968 | MC1R | c.928A>G (p.Lys310Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920186A>T | CA397463966 | MC1R | c.928A>T (p.Lys310Ter) | |
16 | g.89920186_89920188del | CA2600730871 | MC1R | c.928_930del (p.Lys310del) | gnomAD v3 gnomAD v4 |
16 | g.89920187A= | CA2242009906 | MC1R | c.929A= (p.Lys310=) | |
16 | g.89920187A>C | CA397463976 | MC1R | c.929A>C (p.Lys310Thr) | |
16 | g.89920187A>G | CA8255817 | MC1R | c.929A>G (p.Lys310Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
16 | g.89920187A>T | CA397463978 | MC1R | c.929A>T (p.Lys310Met) | |
16 | g.89920190_89920192del | CA2635067767 | MC1R | c.932_934del (p.Glu311del) | gnomAD v4 |
16 | g.89920188G>A | CA497380690 | MC1R | c.930G>A (p.Lys310=) | |
16 | g.89920188G>C | CA397463980 | MC1R | c.930G>C (p.Lys310Asn) | |
16 | g.89920188G>T | CA397463981 | MC1R | c.930G>T (p.Lys310Asn) | |
16 | g.89920189G>A | CA397463983 | MC1R | c.931G>A (p.Glu311Lys) | |
16 | g.89920189G>C | CA397463986 | MC1R | c.931G>C (p.Glu311Gln) | |
16 | g.89920189G>T | CA397463990 | MC1R | c.931G>T (p.Glu311Ter) | gnomAD v4 |
16 | g.89920190A>C | CA397463991 | MC1R | c.932A>C (p.Glu311Ala) | |
16 | g.89920190A>G | CA397463993 | MC1R | c.932A>G (p.Glu311Gly) | |
16 | g.89920190A>T | CA397463997 | MC1R | c.932A>T (p.Glu311Val) | |
16 | g.89920191G>A | CA497380700 | MC1R | c.933G>A (p.Glu311=) | |
16 | g.89920191G>C | CA397463999 | MC1R | c.933G>C (p.Glu311Asp) | |
16 | g.89920191G>T | CA397464000 | MC1R | c.933G>T (p.Glu311Asp) | |
16 | g.89920192G>A | CA397464008 | MC1R | c.934G>A (p.Val312Met) | |
16 | g.89920192G>C | CA397464003 | MC1R | c.934G>C (p.Val312Leu) | |
16 | g.89920192G>T | CA397464005 | MC1R | c.934G>T (p.Val312Leu) | |
16 | g.89920193T>A | CA397464010 | MC1R | c.935T>A (p.Val312Glu) | gnomAD v4 |
16 | g.89920193T>C | CA8255818 | MC1R | c.935T>C (p.Val312Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920193T>G | CA397464012 | MC1R | c.935T>G (p.Val312Gly) | gnomAD v4 |
16 | g.89920193T= | CA2242009907 | MC1R | c.935T= (p.Val312=) | |
16 | g.89920194G>A | CA497380706 | MC1R | c.936G>A (p.Val312=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920194G>C | CA497380708 | MC1R | c.936G>C (p.Val312=) | |
16 | g.89920194G= | CA2242009908 | MC1R | c.936G= (p.Val312=) | |
16 | g.89920194G>T | CA497380707 | MC1R | c.936G>T (p.Val312=) | |
16 | g.89920195C>A | CA397464013 | MC1R | c.937C>A (p.Leu313Met) | |
16 | g.89920195C= | CA2242009909 | MC1R | c.937C= (p.Leu313=) | |
16 | g.89920195C>G | CA397464015 | MC1R | c.937C>G (p.Leu313Val) | |
16 | g.89920195C>T | CA497380709 | MC1R | c.937C>T (p.Leu313=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920196T>A | CA397464019 | MC1R | c.938T>A (p.Leu313Gln) | |
16 | g.89920196T>C | CA397464021 | MC1R | c.938T>C (p.Leu313Pro) | |
16 | g.89920196T>G | CA397464023 | MC1R | c.938T>G (p.Leu313Arg) | gnomAD v4 |
16 | g.89920197G>A | CA497380713 | MC1R | c.939G>A (p.Leu313=) | dbSNP |
16 | g.89920197G>C | CA497380715 | MC1R | c.939G>C (p.Leu313=) | ClinVar |
16 | g.89920197G= | CA2242009910 | MC1R | c.939G= (p.Leu313=) | |
16 | g.89920197G>T | CA497380716 | MC1R | c.939G>T (p.Leu313=) | |
16 | g.89920198A>C | CA397464026 | MC1R | c.940A>C (p.Thr314Pro) | |
16 | g.89920198A>G | CA397464028 | MC1R | c.940A>G (p.Thr314Ala) | |
16 | g.89920198A>T | CA397464031 | MC1R | c.940A>T (p.Thr314Ser) | |
16 | g.89920199C>A | CA286607742 | MC1R | c.941C>A (p.Thr314Lys) | dbSNP |
16 | g.89920199C= | CA2242009911 | MC1R | c.941C= (p.Thr314=) | |
16 | g.89920199C>G | CA397464038 | MC1R | c.941C>G (p.Thr314Arg) | |
16 | g.89920199C>T | CA8255819 | MC1R | c.941C>T (p.Thr314Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920200A= | CA2242009912 | MC1R | c.942A= (p.Thr314=) | |
16 | g.89920200A>C | CA497380724 | MC1R | c.942A>C (p.Thr314=) | |
16 | g.89920200A>G | CA8255820 | MC1R | c.942A>G (p.Thr314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920200A>T | CA497380726 | MC1R | c.942A>T (p.Thr314=) | |
16 | g.89920201T>A | CA397464044 | MC1R | c.943T>A (p.Cys315Ser) | |
16 | g.89920201T>C | CA8255821 | MC1R | c.943T>C (p.Cys315Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920201T>G | CA397464047 | MC1R | c.943T>G (p.Cys315Gly) | |
16 | g.89920201T= | CA2242009913 | MC1R | c.943T= (p.Cys315=) | |
16 | g.89920202G>A | CA397464050 | MC1R | c.944G>A (p.Cys315Tyr) | gnomAD v4 |
16 | g.89920202G>C | CA8255822 | MC1R | c.944G>C (p.Cys315Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920202G= | CA2242009914 | MC1R | c.944G= (p.Cys315=) | |
16 | g.89920202G>T | CA397464058 | MC1R | c.944G>T (p.Cys315Phe) | |
16 | g.89920203C>A | CA397464059 | MC1R | c.945C>A (p.Cys315Ter) | |
16 | g.89920203C= | CA2242009915 | MC1R | c.945C= (p.Cys315=) | |
16 | g.89920203C>G | CA397464061 | MC1R | c.945C>G (p.Cys315Trp) | |
16 | g.89920203C>T | CA497380735 | MC1R | c.945C>T (p.Cys315=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920204T>A | CA397464065 | MC1R | c.946T>A (p.Ser316Thr) | |
16 | g.89920204T>C | CA397464066 | MC1R | c.946T>C (p.Ser316Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.89920204T>G | CA397464067 | MC1R | c.946T>G (p.Ser316Ala) | |
16 | g.89920204T= | CA2242009916 | MC1R | c.946T= (p.Ser316=) | |
16 | g.89920205C>A | CA397464069 | MC1R | c.947C>A (p.Ser316Tyr) | |
16 | g.89920205C>G | CA397464072 | MC1R | c.947C>G (p.Ser316Cys) | |
16 | g.89920205C>T | CA397464068 | MC1R | c.947C>T (p.Ser316Phe) | gnomAD v4 |
16 | g.89920206C>A | CA497380739 | MC1R | c.948C>A (p.Ser316=) | |
16 | g.89920206C= | CA2242009917 | MC1R | c.948C= (p.Ser316=) | |
16 | g.89920206C>G | CA497380740 | MC1R | c.948C>G (p.Ser316=) | |
16 | g.89920206C>T | CA8255823 | MC1R | c.948C>T (p.Ser316=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920207T>A | CA397464075 | MC1R | c.949T>A (p.Trp317Arg) c.949T>A (p.Cys317Ser) | |
16 | g.89920207T>C | CA8255824 | MC1R | c.949T>C (p.Trp317Arg) c.949T>C (p.Cys317Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89920207T>G | CA397464079 | MC1R | c.949T>G (p.Trp317Gly) c.949T>G (p.Cys317Gly) | |
16 | g.89920207T= | CA2242009918 | MC1R | c.949T= (p.Trp317=) c.949T= (p.Cys317=) | |
16 | g.89920207_89920216delinsTGGTGAGCGC | CA2242009919 | MC1R | c.949_*4delinsTGGTGAGCGC (n.[c.949_*4delinsTGGTGAGCGC;Trp317=]) c.949_950+8delinsTGGTGAGCGC | |
16 | g.89920208G>A | CA397464097 | MC1R | c.950G>A (p.Trp317Ter) c.950G>A (p.Cys317Tyr) | |
16 | g.89920208G>C | CA397464094 | MC1R | c.950G>C (p.Trp317Ser) c.950G>C (p.Cys317Ser) | |
16 | g.89920208G= | CA2242009921 | MC1R | c.950G= (p.Trp317=) c.950G= (p.Cys317=) | |
16 | g.89920208G>T | CA397464088 | MC1R | c.950G>T (p.Trp317Leu) c.950G>T (p.Cys317Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920209dup | CA2580092419 | MC1R | c.951dup (p.Ter318ValextTer17) c.950+1dup | ClinVar |
16 | g.89920209del | CA2635067806 | MC1R | c.951del (p.Trp317CysfsTer26) c.950+1del | gnomAD v4 |
16 | g.89920212_89920220del | CA2242009920 | MC1R | c.954_*8del (n.[c.954_*8del;Ter318CysextTer5]) c.950+4_950+12del | ClinVar dbSNP |
16 | g.89920209G>A | CA397464100 | MC1R | c.951G>A (p.Trp317Ter) c.950+1G>A (n.950+1G>A) | ClinVar |
16 | g.89920209G>C | CA286607750 | MC1R | c.951G>C (p.Trp317Cys) c.950+1G>C (n.950+1G>C) | dbSNP |
16 | g.89920209G= | CA2242009922 | MC1R | c.951G= (p.Trp317=) c.950+1G= (n.950+1G=) | |
16 | g.89920209G>T | CA8255825 | MC1R | c.951G>T (p.Trp317Cys) c.950+1G>T (n.950+1G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89920210T>A | CA397464109 | MC1R | c.952T>A (p.Ter318Arg) c.950+2T>A (n.950+2T>A) | |
16 | g.89920210T>C | CA397464112 | MC1R | c.952T>C (p.Ter318Arg) c.950+2T>C (n.950+2T>C) | |
16 | g.89920210T>G | CA397464115 | MC1R | c.952T>G (p.Ter318Gly) c.950+2T>G (n.950+2T>G) | |
16 | g.89920211G>A | CA8255826 | MC1R | c.953G>A (p.Ter318=) c.950+3G>A (n.950+3G>A) | dbSNP ExAC gnomAD v2 |
16 | g.89920211G>C | CA397464124 | MC1R | c.953G>C (p.Ter318Ser) c.950+3G>C (n.950+3G>C) | |
16 | g.89920211G= | CA2242009923 | MC1R | c.953G= (p.Ter318=) c.950+3G= (n.950+3G=) | |
16 | g.89920211G>T | CA397464121 | MC1R | c.953G>T (p.Ter318Leu) c.950+3G>T (n.950+3G>T) | |
16 | g.89920212A>C | CA397464128 | MC1R | c.954A>C (p.Ter318Cys) c.950+4A>C (n.950+4A>C) | |
16 | g.89920212A>G | CA397464132 | MC1R | c.954A>G (p.Ter318Trp) c.950+4A>G (n.950+4A>G) | |
16 | g.89920212A>T | CA397464129 | MC1R | c.954A>T (p.Ter318Cys) c.950+4A>T (n.950+4A>T) | |
16 | g.89920213G>A | CA497380750 | MC1R | c.*1G>A (n.*1G>A) c.950+5G>A (n.950+5G>A) | |
16 | g.89920213G>C | CA497380751 | MC1R | c.*1G>C (n.*1G>C) c.950+5G>C (n.950+5G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920213G= | CA2242009924 | MC1R | c.*1G= (n.*1G=) c.950+5G= (n.950+5G=) | |
16 | g.89920213G>T | CA497380752 | MC1R | c.*1G>T (n.*1G>T) c.950+5G>T (n.950+5G>T) | |
16 | g.89920214C>A | CA497380753 | MC1R | c.*2C>A (n.*2C>A) c.950+6C>A (n.950+6C>A) | gnomAD v4 |
16 | g.89920214C= | CA2242009925 | MC1R | c.*2C= (n.*2C=) c.950+6C= (n.950+6C=) | |
16 | g.89920214C>G | CA497380754 | MC1R | c.*2C>G (n.*2C>G) c.950+6C>G (n.950+6C>G) | |
16 | g.89920214C>T | CA8255827 | MC1R | c.*2C>T (n.*2C>T) c.950+6C>T (n.950+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920215G>A | CA497380756 | MC1R | c.*3G>A (n.*3G>A) c.950+7G>A (n.950+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920215G>C | CA497380759 | MC1R | c.*3G>C (n.*3G>C) c.950+7G>C (n.950+7G>C) | |
16 | g.89920215G= | CA2242009926 | MC1R | c.*3G= (n.*3G=) c.950+7G= (n.950+7G=) | |
16 | g.89920215G>T | CA497380758 | MC1R | c.*3G>T (n.*3G>T) c.950+7G>T (n.950+7G>T) | |
16 | g.89920216C>A | CA497380760 | MC1R | c.*4C>A (n.*4C>A) c.950+8C>A (n.950+8C>A) | gnomAD v4 |
16 | g.89920216C= | CA2242009927 | MC1R | c.*4C= (n.*4C=) c.950+8C= (n.950+8C=) | |
16 | g.89920216C>G | CA497380761 | MC1R | c.*4C>G (n.*4C>G) c.950+8C>G (n.950+8C>G) | |
16 | g.89920216C>T | CA286607754 | MC1R | c.*4C>T (n.*4C>T) c.950+8C>T (n.950+8C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920217G>A | CA497380762 | MC1R | c.*5G>A (n.*5G>A) c.950+9G>A (n.950+9G>A) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89920217G>C | CA497380763 | MC1R | c.*5G>C (n.*5G>C) c.950+9G>C (n.950+9G>C) | |
16 | g.89920217G= | CA2242009928 | MC1R | c.*5G= (n.*5G=) c.950+9G= (n.950+9G=) | |
16 | g.89920217G>T | CA497380764 | MC1R | c.*5G>T (n.*5G>T) c.950+9G>T (n.950+9G>T) | |
16 | g.89920218G>A | CA497380765 | MC1R | c.*6G>A (n.*6G>A) c.950+10G>A (n.950+10G>A) | dbSNP |
16 | g.89920218G>C | CA497380766 | MC1R | c.*6G>C (n.*6G>C) c.950+10G>C (n.950+10G>C) | |
16 | g.89920218G>T | CA497380767 | MC1R | c.*6G>T (n.*6G>T) c.950+10G>T (n.950+10G>T) | gnomAD v4 |
16 | g.89920219T>A | CA497380771 | MC1R | c.*7T>A (n.*7T>A) c.950+11T>A (n.950+11T>A) | |
16 | g.89920219T>C | CA497380773 | MC1R | c.*7T>C (n.*7T>C) c.950+11T>C (n.950+11T>C) | gnomAD v4 |
16 | g.89920219T>G | CA497380774 | MC1R | c.*7T>G (n.*7T>G) c.950+11T>G (n.950+11T>G) | |
16 | g.89920220G>A | CA497380779 | MC1R | c.*8G>A (n.*8G>A) c.950+12G>A (n.950+12G>A) | |
16 | g.89920220G>C | CA497380777 | MC1R | c.*8G>C (n.*8G>C) c.950+12G>C (n.950+12G>C) | |
16 | g.89920220G>T | CA497380775 | MC1R | c.*8G>T (n.*8G>T) c.950+12G>T (n.950+12G>T) | |
16 | g.89920221C>A | CA497380780 | MC1R | c.*9C>A (n.*9C>A) c.950+13C>A (n.950+13C>A) | |
16 | g.89920221C>G | CA497380781 | MC1R | c.*9C>G (n.*9C>G) c.950+13C>G (n.950+13C>G) | |
16 | g.89920221C>T | CA497380782 | MC1R | c.*9C>T (n.*9C>T) c.950+13C>T (n.950+13C>T) | gnomAD v4 |
16 | g.89920222_89920223del | CA2576104040 | MC1R | c.*10_*11del (n.*10_*11del) c.950+14_950+15del (n.950+14_950+15del) | |
16 | g.89920222A>C | CA497380783 | MC1R | c.*10A>C (n.*10A>C) c.950+14A>C (n.950+14A>C) | |
16 | g.89920222A>G | CA497380784 | MC1R | c.*10A>G (n.*10A>G) c.950+14A>G (n.950+14A>G) | |
16 | g.89920222A>T | CA497380785 | MC1R | c.*10A>T (n.*10A>T) c.950+14A>T (n.950+14A>T) | |
16 | g.89920223C>A | CA497380786 | MC1R | c.*11C>A (n.*11C>A) c.950+15C>A (n.950+15C>A) | gnomAD v4 |
16 | g.89920223C= | CA2242009929 | MC1R | c.*11C= (n.*11C=) c.950+15C= (n.950+15C=) | |
16 | g.89920223C>G | CA497380787 | MC1R | c.*11C>G (n.*11C>G) c.950+15C>G (n.950+15C>G) | dbSNP gnomAD v4 |
16 | g.89920223C>T | CA8255828 | MC1R | c.*11C>T (n.*11C>T) c.950+15C>T (n.950+15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920224G>A | CA8255829 | MC1R | c.*12G>A (n.*12G>A) c.950+16G>A (n.950+16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920224G>C | CA497380788 | MC1R | c.*12G>C (n.*12G>C) c.950+16G>C (n.950+16G>C) | |
16 | g.89920224G= | CA2242009930 | MC1R | c.*12G= (n.*12G=) c.950+16G= (n.950+16G=) | |
16 | g.89920224G>T | CA497380789 | MC1R | c.*12G>T (n.*12G>T) c.950+16G>T (n.950+16G>T) | gnomAD v4 |
16 | g.89920225C>A | CA497380792 | MC1R | c.*13C>A (n.*13C>A) c.950+17C>A (n.950+17C>A) | |
16 | g.89920225C= | CA2242009931 | MC1R | c.*13C= (n.*13C=) c.950+17C= (n.950+17C=) | |
16 | g.89920225C>G | CA497380795 | MC1R | c.*13C>G (n.*13C>G) c.950+17C>G (n.950+17C>G) | gnomAD v4 |
16 | g.89920225C>T | CA8255830 | MC1R | c.*13C>T (n.*13C>T) c.950+17C>T (n.950+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920226G>A | CA8255831 | MC1R | c.*14G>A (n.*14G>A) c.950+18G>A (n.950+18G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920226G>C | CA497380800 | MC1R | c.*14G>C (n.*14G>C) c.950+18G>C (n.950+18G>C) | |
16 | g.89920226G= | CA2242009932 | MC1R | c.*14G= (n.*14G=) c.950+18G= (n.950+18G=) | |
16 | g.89920226G>T | CA497380802 | MC1R | c.*14G>T (n.*14G>T) c.950+18G>T (n.950+18G>T) | |
16 | g.89920226_89920245delinsGGCTTTAAGTGTGCTGGGCA | CA2242009933 | MC1R | c.*14_*33delinsGGCTTTAAGTGTGCTGGGCA (n.*14_*33delinsGGCTTTAAGTGTGCTGGGCA) c.950+18_950+37delinsGGCTTTAAGTGTGCTGGGCA (n.950+18_950+37delinsGGCTTTAAGTGTGCTGGGCA) | |
16 | g.89920227G>A | CA497380804 | MC1R | c.*15G>A (n.*15G>A) c.950+19G>A (n.950+19G>A) | gnomAD v4 |
16 | g.89920227G>C | CA497380807 | MC1R | c.*15G>C (n.*15G>C) c.950+19G>C (n.950+19G>C) | |
16 | g.89920227G>T | CA497380808 | MC1R | c.*15G>T (n.*15G>T) c.950+19G>T (n.950+19G>T) | |
16 | g.89920228_89920246del | CA8255832 | MC1R | c.*16_*34del (n.*16_*34del) c.950+20_950+38del (n.950+20_950+38del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920228C>A | CA497380811 | MC1R | c.*16C>A (n.*16C>A) c.950+20C>A (n.950+20C>A) | |
16 | g.89920228C= | CA2242009934 | MC1R | c.*16C= (n.*16C=) c.950+20C= (n.950+20C=) | |
16 | g.89920228C>G | CA497380813 | MC1R | c.*16C>G (n.*16C>G) c.950+20C>G (n.950+20C>G) | gnomAD v4 |
16 | g.89920228C>T | CA8255833 | MC1R | c.*16C>T (n.*16C>T) c.950+20C>T (n.950+20C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920228_89920229delinsCT | CA2242009935 | MC1R | c.*16_*17delinsCT (n.*16_*17delinsCT) c.950+20_950+21delinsCT (n.950+20_950+21delinsCT) | |
16 | g.89920229T>A | CA497380816 | MC1R | c.*17T>A (n.*17T>A) c.950+21T>A (n.950+21T>A) | |
16 | g.89920229T>C | CA497380817 | MC1R | c.*17T>C (n.*17T>C) c.950+21T>C (n.950+21T>C) | |
16 | g.89920229T>G | CA497380819 | MC1R | c.*17T>G (n.*17T>G) c.950+21T>G (n.950+21T>G) | |
16 | g.89920231dup | CA624455427 | MC1R | c.*19dup (n.*19dup) c.950+23dup (n.950+23dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920231del | CA624455428 | MC1R | c.*19del (n.*19del) c.950+23del (n.950+23del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920230T>A | CA497380825 | MC1R | c.*18T>A (n.*18T>A) c.950+22T>A (n.950+22T>A) | |
16 | g.89920230T>C | CA497380824 | MC1R | c.*18T>C (n.*18T>C) c.950+22T>C (n.950+22T>C) | |
16 | g.89920230T>G | CA8255834 | MC1R | c.*18T>G (n.*18T>G) c.950+22T>G (n.950+22T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920230T= | CA2242009937 | MC1R | c.*18T= (n.*18T=) c.950+22T= (n.950+22T=) | |
16 | g.89920230_89920234delinsTTAAG | CA2242009936 | MC1R | c.*18_*22delinsTTAAG (n.*18_*22delinsTTAAG) c.950+22_950+26delinsTTAAG (n.950+22_950+26delinsTTAAG) | |
16 | g.89920231T>A | CA497380826 | MC1R | c.*19T>A (n.*19T>A) c.950+23T>A (n.950+23T>A) | |
16 | g.89920231T>C | CA497380828 | MC1R | c.*19T>C (n.*19T>C) c.950+23T>C (n.950+23T>C) | |
16 | g.89920231T>G | CA497380829 | MC1R | c.*19T>G (n.*19T>G) c.950+23T>G (n.950+23T>G) | |
16 | g.89920232_89920235del | CA8255835 | MC1R | c.*20_*23del (n.*20_*23del) c.950+24_950+27del (n.950+24_950+27del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89920232A>C | CA497380830 | MC1R | c.*20A>C (n.*20A>C) c.950+24A>C (n.950+24A>C) | |
16 | g.89920232A>G | CA497380831 | MC1R | c.*20A>G (n.*20A>G) c.950+24A>G (n.950+24A>G) | gnomAD v4 |
16 | g.89920232A>T | CA497380832 | MC1R | c.*20A>T (n.*20A>T) c.950+24A>T (n.950+24A>T) | |
16 | g.89920233A= | CA2242009939 | MC1R | c.*21A= (n.*21A=) c.950+25A= (n.950+25A=) | |
16 | g.89920233A>C | CA8255836 | MC1R | c.*21A>C (n.*21A>C) c.950+25A>C (n.950+25A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920233A>G | CA497380834 | MC1R | c.*21A>G (n.*21A>G) c.950+25A>G (n.950+25A>G) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920233A>T | CA497380837 | MC1R | c.*21A>T (n.*21A>T) c.950+25A>T (n.950+25A>T) | |
16 | g.89920233_89920235delinsAGT | CA2242009938 | MC1R | c.*21_*23delinsAGT (n.*21_*23delinsAGT) c.950+25_950+27delinsAGT (n.950+25_950+27delinsAGT) | |
16 | g.89920234G>A | CA497380842 | MC1R | c.*22G>A (n.*22G>A) c.950+26G>A (n.950+26G>A) | gnomAD v4 |
16 | g.89920234G>C | CA497380841 | MC1R | c.*22G>C (n.*22G>C) c.950+26G>C (n.950+26G>C) | gnomAD v4 |
16 | g.89920234G>T | CA497380839 | MC1R | c.*22G>T (n.*22G>T) c.950+26G>T (n.950+26G>T) | |
16 | g.89920237_89920238del | CA624455429 | MC1R | c.*25_*26del (n.*25_*26del) c.950+29_950+30del (n.950+29_950+30del) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920235T>A | CA497380843 | MC1R | c.*23T>A (n.*23T>A) c.950+27T>A (n.950+27T>A) | gnomAD v4 |
16 | g.89920235T>C | CA286607763 | MC1R | c.*23T>C (n.*23T>C) c.950+27T>C (n.950+27T>C) | dbSNP |
16 | g.89920235T>G | CA497380844 | MC1R | c.*23T>G (n.*23T>G) c.950+27T>G (n.950+27T>G) | |
16 | g.89920235T= | CA2242009940 | MC1R | c.*23T= (n.*23T=) c.950+27T= (n.950+27T=) | |
16 | g.89920236G>A | CA497380845 | MC1R | c.*24G>A (n.*24G>A) c.950+28G>A (n.950+28G>A) | |
16 | g.89920236G>C | CA497380846 | MC1R | c.*24G>C (n.*24G>C) c.950+28G>C (n.950+28G>C) | |
16 | g.89920236G>T | CA497380847 | MC1R | c.*24G>T (n.*24G>T) c.950+28G>T (n.950+28G>T) | |
16 | g.89920237T>A | CA497380850 | MC1R | c.*25T>A (n.*25T>A) c.950+29T>A (n.950+29T>A) | |
16 | g.89920237T>C | CA497380851 | MC1R | c.*25T>C (n.*25T>C) c.950+29T>C (n.950+29T>C) | |
16 | g.89920237T>G | CA497380853 | MC1R | c.*25T>G (n.*25T>G) c.950+29T>G (n.950+29T>G) | gnomAD v4 |
16 | g.89920238G>A | CA497380854 | MC1R | c.*26G>A (n.*26G>A) c.950+30G>A (n.950+30G>A) | gnomAD v4 |
16 | g.89920238G>C | CA497380855 | MC1R | c.*26G>C (n.*26G>C) c.950+30G>C (n.950+30G>C) | |
16 | g.89920238G>T | CA497380856 | MC1R | c.*26G>T (n.*26G>T) c.950+30G>T (n.950+30G>T) | |
16 | g.89920239C>A | CA497380859 | MC1R | c.*27C>A (n.*27C>A) c.950+31C>A (n.950+31C>A) | |
16 | g.89920239C= | CA2242009941 | MC1R | c.*27C= (n.*27C=) c.950+31C= (n.950+31C=) | |
16 | g.89920239C>G | CA497380857 | MC1R | c.*27C>G (n.*27C>G) c.950+31C>G (n.950+31C>G) | |
16 | g.89920239C>T | CA497380858 | MC1R | c.*27C>T (n.*27C>T) c.950+31C>T (n.950+31C>T) | dbSNP gnomAD v4 |
16 | g.89920240T>A | CA497380860 | MC1R | c.*28T>A (n.*28T>A) c.950+32T>A (n.950+32T>A) | |
16 | g.89920240T>C | CA497380861 | MC1R | c.*28T>C (n.*28T>C) c.950+32T>C (n.950+32T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89920240T>G | CA497380862 | MC1R | c.*28T>G (n.*28T>G) c.950+32T>G (n.950+32T>G) | |
16 | g.89920240T= | CA2242009942 | MC1R | c.*28T= (n.*28T=) c.950+32T= (n.950+32T=) | |
16 | g.89920241G>A | CA497380863 | MC1R | c.*29G>A (n.*29G>A) c.950+33G>A (n.950+33G>A) | gnomAD v4 |
16 | g.89920241G>C | CA497380864 | MC1R | c.*29G>C (n.*29G>C) c.950+33G>C (n.950+33G>C) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89920241G= | CA2242009943 | MC1R | c.*29G= (n.*29G=) c.950+33G= (n.950+33G=) | |
16 | g.89920241G>T | CA497380865 | MC1R | c.*29G>T (n.*29G>T) c.950+33G>T (n.950+33G>T) |