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.89919863_89919923del | CA2635066772 | MC1R | c.605_665del (p.Leu202ProfsTer?) | gnomAD v4 |
16 | g.89919866_89919896delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG | CA2242009674 | MC1R | c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG (p.Met203=) | |
16 | g.89919871_89919900del | CA8255677 | MC1R | c.613_642del (p.Val205_Ala214del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919892_89919911delinsGCCCGGGCCTGCCAGCACGC | CA2242009694 | MC1R | c.634_653delinsGCCCGGGCCTGCCAGCACGC (p.Ala212=) | |
16 | g.89919895del | CA2808106258 | MC1R | c.637del (p.Arg213GlyfsTer?) | |
16 | g.89919895_89919913del | CA8255692 | MC1R | c.637_655del (p.Cys215SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919895C>A | CA497380996 | MC1R | c.637C>A (p.Arg213=) | |
16 | g.89919895C= | CA2242009696 | MC1R | c.637C= (p.Arg213=) | |
16 | g.89919895C>G | CA286607575 | MC1R | c.637C>G (p.Arg213Gly) | dbSNP gnomAD v4 |
16 | g.89919895C>T | CA8255693 | MC1R | c.637C>T (p.Arg213Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919896G>A | CA8255694 | MC1R | c.638G>A (p.Arg213Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919896G>C | CA397462492 | MC1R | c.638G>C (p.Arg213Pro) | |
16 | g.89919896G= | CA2242009697 | MC1R | c.638G= (p.Arg213=) | |
16 | g.89919896G>T | CA397462494 | MC1R | c.638G>T (p.Arg213Leu) | |
16 | g.89919897G>A | CA497380999 | MC1R | c.639G>A (p.Arg213=) | dbSNP |
16 | g.89919897G>C | CA497381001 | MC1R | c.639G>C (p.Arg213=) | |
16 | g.89919897G= | CA2242009698 | MC1R | c.639G= (p.Arg213=) | |
16 | g.89919897G>T | CA497381003 | MC1R | c.639G>T (p.Arg213=) | |
16 | g.89919898G>A | CA8255695 | MC1R | c.640G>A (p.Ala214Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919898G>C | CA397462498 | MC1R | c.640G>C (p.Ala214Pro) | gnomAD v4 |
16 | g.89919898G= | CA2242009699 | MC1R | c.640G= (p.Ala214=) | |
16 | g.89919898G>T | CA397462501 | MC1R | c.640G>T (p.Ala214Ser) | gnomAD v4 |
16 | g.89919899C>A | CA397462504 | MC1R | c.641C>A (p.Ala214Asp) | |
16 | g.89919899C= | CA2242009700 | MC1R | c.641C= (p.Ala214=) | |
16 | g.89919899C>G | CA397462515 | MC1R | c.641C>G (p.Ala214Gly) | |
16 | g.89919899C>T | CA397462518 | MC1R | c.641C>T (p.Ala214Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919900C>A | CA497381008 | MC1R | c.642C>A (p.Ala214=) | |
16 | g.89919900C= | CA2242009701 | MC1R | c.642C= (p.Ala214=) | |
16 | g.89919900C>G | CA497381009 | MC1R | c.642C>G (p.Ala214=) | dbSNP gnomAD v4 |
16 | g.89919900C>T | CA497381011 | MC1R | c.642C>T (p.Ala214=) | |
16 | g.89919901T>A | CA397462525 | MC1R | c.643T>A (p.Cys215Ser) | |
16 | g.89919901T>C | CA397462526 | MC1R | c.643T>C (p.Cys215Arg) | |
16 | g.89919901T>G | CA397462527 | MC1R | c.643T>G (p.Cys215Gly) | |
16 | g.89919902G>A | CA397462528 | MC1R | c.644G>A (p.Cys215Tyr) | |
16 | g.89919902G>C | CA397462530 | MC1R | c.644G>C (p.Cys215Ser) | |
16 | g.89919902G>T | CA397462531 | MC1R | c.644G>T (p.Cys215Phe) | dbSNP |
16 | g.89919903C>A | CA10583444 | MC1R | c.645C>A (p.Cys215Ter) | ClinVar dbSNP |
16 | g.89919903C= | CA2242009702 | MC1R | c.645C= (p.Cys215=) | |
16 | g.89919903C>G | CA397462534 | MC1R | c.645C>G (p.Cys215Trp) | |
16 | g.89919903C>T | CA497381021 | MC1R | c.645C>T (p.Cys215=) | dbSNP gnomAD v4 |
16 | g.89919904C>A | CA397462545 | MC1R | c.646C>A (p.Gln216Lys) | |
16 | g.89919904C= | CA2242009703 | MC1R | c.646C= (p.Gln216=) | |
16 | g.89919904C>G | CA397462546 | MC1R | c.646C>G (p.Gln216Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919904C>T | CA397462547 | MC1R | c.646C>T (p.Gln216Ter) | gnomAD v4 |
16 | g.89919905A>C | CA397462548 | MC1R | c.647A>C (p.Gln216Pro) | |
16 | g.89919905A>G | CA397462549 | MC1R | c.647A>G (p.Gln216Arg) | |
16 | g.89919905A>T | CA397462550 | MC1R | c.647A>T (p.Gln216Leu) | |
16 | g.89919905dup | CA2576104033 | MC1R | c.647dup (p.His217AlafsTer22) | |
16 | g.89919906G>A | CA497381034 | MC1R | c.648G>A (p.Gln216=) | gnomAD v4 |
16 | g.89919906G>C | CA397462551 | MC1R | c.648G>C (p.Gln216His) | |
16 | g.89919906G>T | CA397462552 | MC1R | c.648G>T (p.Gln216His) | |
16 | g.89919909_89919919del | CA2576104034 | MC1R | c.651_661del (p.Ala218ArgfsTer17) | |
16 | g.89919907C>A | CA397462553 | MC1R | c.649C>A (p.His217Asn) | gnomAD v4 |
16 | g.89919907C>G | CA397462555 | MC1R | c.649C>G (p.His217Asp) | |
16 | g.89919907C>T | CA397462558 | MC1R | c.649C>T (p.His217Tyr) | |
16 | g.89919908A>C | CA397462560 | MC1R | c.650A>C (p.His217Pro) | |
16 | g.89919908A>G | CA397462561 | MC1R | c.650A>G (p.His217Arg) | |
16 | g.89919908A>T | CA397462569 | MC1R | c.650A>T (p.His217Leu) | |
16 | g.89919909C>A | CA397462573 | MC1R | c.651C>A (p.His217Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919909C= | CA2242009704 | MC1R | c.651C= (p.His217=) | |
16 | g.89919909C>G | CA397462572 | MC1R | c.651C>G (p.His217Gln) | gnomAD v4 |
16 | g.89919909C>T | CA8255696 | MC1R | c.651C>T (p.His217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919910G>A | CA8255697 | MC1R | c.652G>A (p.Ala218Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919910G>C | CA397462576 | MC1R | c.652G>C (p.Ala218Pro) | |
16 | g.89919910G= | CA2242009705 | MC1R | c.652G= (p.Ala218=) | |
16 | g.89919910G>T | CA397462578 | MC1R | c.652G>T (p.Ala218Ser) | gnomAD v4 |
16 | g.89919911C>A | CA397462579 | MC1R | c.653C>A (p.Ala218Asp) | |
16 | g.89919911C= | CA2242009706 | MC1R | c.653C= (p.Ala218=) | |
16 | g.89919911C>G | CA8255698 | MC1R | c.653C>G (p.Ala218Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919911C>T | CA397462581 | MC1R | c.653C>T (p.Ala218Val) | |
16 | g.89919912C>A | CA497381050 | MC1R | c.654C>A (p.Ala218=) | |
16 | g.89919912C>G | CA497381051 | MC1R | c.654C>G (p.Ala218=) | |
16 | g.89919912C>T | CA497381053 | MC1R | c.654C>T (p.Ala218=) | ClinVar |
16 | g.89919913C>A | CA397462582 | MC1R | c.655C>A (p.Gln219Lys) | gnomAD v4 |
16 | g.89919913C>G | CA397462583 | MC1R | c.655C>G (p.Gln219Glu) | |
16 | g.89919913C>T | CA397462584 | MC1R | c.655C>T (p.Gln219Ter) | |
16 | g.89919914A= | CA2242009707 | MC1R | c.656A= (p.Gln219=) | |
16 | g.89919914A>C | CA286607583 | MC1R | c.656A>C (p.Gln219Pro) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919914A>G | CA397462586 | MC1R | c.656A>G (p.Gln219Arg) | |
16 | g.89919914A>T | CA397462587 | MC1R | c.656A>T (p.Gln219Leu) | |
16 | g.89919915G>A | CA497381058 | MC1R | c.657G>A (p.Gln219=) | |
16 | g.89919915G>C | CA397462589 | MC1R | c.657G>C (p.Gln219His) | gnomAD v4 |
16 | g.89919915G>T | CA397462590 | MC1R | c.657G>T (p.Gln219His) | |
16 | g.89919916G>A | CA397462602 | MC1R | c.658G>A (p.Gly220Ser) | |
16 | g.89919916G>C | CA397462605 | MC1R | c.658G>C (p.Gly220Arg) | |
16 | g.89919916G>T | CA397462594 | MC1R | c.658G>T (p.Gly220Cys) | gnomAD v4 |
16 | g.89919920_89919941del | CA2576104035 | MC1R | c.662_683del (p.Ile221SerfsTer?) | |
16 | g.89919917G>A | CA397462626 | MC1R | c.659G>A (p.Gly220Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.89919917G>C | CA397462628 | MC1R | c.659G>C (p.Gly220Ala) | |
16 | g.89919917G= | CA2242009708 | MC1R | c.659G= (p.Gly220=) | |
16 | g.89919917G>T | CA397462631 | MC1R | c.659G>T (p.Gly220Val) | gnomAD v4 |
16 | g.89919917_89919918dup | CA2635066957 | MC1R | c.659_660dup (p.Ile221AlafsTer?) | gnomAD v4 |
16 | g.89919918C>A | CA286607585 | MC1R | c.660C>A (p.Gly220=) | dbSNP |
16 | g.89919918C= | CA2242009709 | MC1R | c.660C= (p.Gly220=) | |
16 | g.89919918C>G | CA497381072 | MC1R | c.660C>G (p.Gly220=) | |
16 | g.89919918C>T | CA497381074 | MC1R | c.660C>T (p.Gly220=) | gnomAD v4 |
16 | g.89919919A= | CA2242009710 | MC1R | c.661A= (p.Ile221=) | |
16 | g.89919919A>C | CA397462635 | MC1R | c.661A>C (p.Ile221Leu) | |
16 | g.89919919A>G | CA397462638 | MC1R | c.661A>G (p.Ile221Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919919A>T | CA397462639 | MC1R | c.661A>T (p.Ile221Phe) | |
16 | g.89919920T>A | CA397462642 | MC1R | c.662T>A (p.Ile221Asn) | |
16 | g.89919920T>C | CA8255699 | MC1R | c.662T>C (p.Ile221Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919920T>G | CA397462644 | MC1R | c.662T>G (p.Ile221Ser) | |
16 | g.89919920T= | CA2242009712 | MC1R | c.662T= (p.Ile221=) | |
16 | g.89919920_89919942delinsTCGCCCGGCTCCACAAGAGGCAG | CA2242009711 | MC1R | c.662_684delinsTCGCCCGGCTCCACAAGAGGCAG (p.Ile221=) | |
16 | g.89919921C>A | CA497381084 | MC1R | c.663C>A (p.Ile221=) | gnomAD v4 |
16 | g.89919921C= | CA2242009713 | MC1R | c.663C= (p.Ile221=) | |
16 | g.89919921C>G | CA397462646 | MC1R | c.663C>G (p.Ile221Met) | |
16 | g.89919921C>T | CA8255701 | MC1R | c.663C>T (p.Ile221=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919928_89919949del | CA8255700 | MC1R | c.670_691del (p.Leu224SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919922del | CA2635066990 | MC1R | c.664del (p.Ala222ProfsTer?) | gnomAD v4 |
16 | g.89919922G>A | CA8255702 | MC1R | c.664G>A (p.Ala222Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919922G>C | CA397462649 | MC1R | c.664G>C (p.Ala222Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919922G= | CA2242009714 | MC1R | c.664G= (p.Ala222=) | |
16 | g.89919922G>T | CA8255703 | MC1R | c.664G>T (p.Ala222Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919922_89919923delinsTA | CA2573152826 | MC1R | c.664_665delinsTA (p.Ala222Tyr) | ClinVar dbSNP |
16 | g.89919923C>A | CA286607591 | MC1R | c.665C>A (p.Ala222Asp) | dbSNP |
16 | g.89919923C= | CA2242009715 | MC1R | c.665C= (p.Ala222=) | |
16 | g.89919923C>G | CA397462657 | MC1R | c.665C>G (p.Ala222Gly) | |
16 | g.89919923C>T | CA397462660 | MC1R | c.665C>T (p.Ala222Val) | gnomAD v4 |
16 | g.89919924C>A | CA497381091 | MC1R | c.666C>A (p.Ala222=) | |
16 | g.89919924C= | CA2242009716 | MC1R | c.666C= (p.Ala222=) | |
16 | g.89919924C>G | CA497381092 | MC1R | c.666C>G (p.Ala222=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919924C>T | CA497381094 | MC1R | c.666C>T (p.Ala222=) | |
16 | g.89919925C>A | CA8255705 | MC1R | c.667C>A (p.Arg223=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919925C= | CA2242009717 | MC1R | c.667C= (p.Arg223=) | |
16 | g.89919925C>G | CA8255706 | MC1R | c.667C>G (p.Arg223Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919925C>T | CA8255704 | MC1R | c.667C>T (p.Arg223Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919926G>A | CA8255707 | MC1R | c.668G>A (p.Arg223Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919926G>C | CA397462669 | MC1R | c.668G>C (p.Arg223Pro) | |
16 | g.89919926G= | CA2242009718 | MC1R | c.668G= (p.Arg223=) | |
16 | g.89919926G>T | CA397462671 | MC1R | c.668G>T (p.Arg223Leu) | gnomAD v4 |
16 | g.89919927G>A | CA497381101 | MC1R | c.669G>A (p.Arg223=) | dbSNP gnomAD v4 |
16 | g.89919927G>C | CA497381103 | MC1R | c.669G>C (p.Arg223=) | dbSNP |
16 | g.89919927G= | CA2242009719 | MC1R | c.669G= (p.Arg223=) | |
16 | g.89919927G>T | CA497381105 | MC1R | c.669G>T (p.Arg223=) | gnomAD v4 |
16 | g.89919928C>A | CA397462674 | MC1R | c.670C>A (p.Leu224Ile) | |
16 | g.89919928C= | CA2242009720 | MC1R | c.670C= (p.Leu224=) | |
16 | g.89919928C>G | CA397462677 | MC1R | c.670C>G (p.Leu224Val) | gnomAD v4 |
16 | g.89919928C>T | CA8255708 | MC1R | c.670C>T (p.Leu224Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919929T>A | CA397462679 | MC1R | c.671T>A (p.Leu224His) | |
16 | g.89919929T>C | CA397462685 | MC1R | c.671T>C (p.Leu224Pro) | |
16 | g.89919929T>G | CA397462681 | MC1R | c.671T>G (p.Leu224Arg) | |
16 | g.89919930C>A | CA497381108 | MC1R | c.672C>A (p.Leu224=) | |
16 | g.89919930C= | CA2242009721 | MC1R | c.672C= (p.Leu224=) | |
16 | g.89919930C>G | CA497381110 | MC1R | c.672C>G (p.Leu224=) | |
16 | g.89919930C>T | CA8255709 | MC1R | c.672C>T (p.Leu224=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919931_89919933del | CA2576104036 | MC1R | c.673_675del (p.His225del) | |
16 | g.89919931C>A | CA397462695 | MC1R | c.673C>A (p.His225Asn) | |
16 | g.89919931C>G | CA397462690 | MC1R | c.673C>G (p.His225Asp) | |
16 | g.89919931C>T | CA397462693 | MC1R | c.673C>T (p.His225Tyr) | |
16 | g.89919932A= | CA2242009722 | MC1R | c.674A= (p.His225=) | |
16 | g.89919932A>C | CA397462698 | MC1R | c.674A>C (p.His225Pro) | |
16 | g.89919932A>G | CA397462700 | MC1R | c.674A>G (p.His225Arg) | dbSNP gnomAD v4 |
16 | g.89919932A>T | CA397462703 | MC1R | c.674A>T (p.His225Leu) | |
16 | g.89919933C>A | CA397462710 | MC1R | c.675C>A (p.His225Gln) | |
16 | g.89919933C>G | CA397462712 | MC1R | c.675C>G (p.His225Gln) | |
16 | g.89919933C>T | CA497381119 | MC1R | c.675C>T (p.His225=) | |
16 | g.89919934A= | CA2242009723 | MC1R | c.676A= (p.Lys226=) | |
16 | g.89919934A>C | CA397462714 | MC1R | c.676A>C (p.Lys226Gln) | |
16 | g.89919934A>G | CA397462716 | MC1R | c.676A>G (p.Lys226Glu) | |
16 | g.89919934A>T | CA397462717 | MC1R | c.676A>T (p.Lys226Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919935dup | CA912996820 | MC1R | c.677dup (p.Arg227GlufsTer12) | |
16 | g.89919935A= | CA2242009724 | MC1R | c.677A= (p.Lys226=) | |
16 | g.89919935A>C | CA397462722 | MC1R | c.677A>C (p.Lys226Thr) | |
16 | g.89919935A>G | CA397462720 | MC1R | c.677A>G (p.Lys226Arg) | ClinVar dbSNP |
16 | g.89919935A>T | CA397462719 | MC1R | c.677A>T (p.Lys226Met) | |
16 | g.89919936G>A | CA497381122 | MC1R | c.678G>A (p.Lys226=) | COSMIC |
16 | g.89919936G>C | CA397462726 | MC1R | c.678G>C (p.Lys226Asn) | |
16 | g.89919936G>T | CA397462728 | MC1R | c.678G>T (p.Lys226Asn) | |
16 | g.89919937A>C | CA497381124 | MC1R | c.679A>C (p.Arg227=) | |
16 | g.89919937A>G | CA397462731 | MC1R | c.679A>G (p.Arg227Gly) | |
16 | g.89919937A>T | CA397462733 | MC1R | c.679A>T (p.Arg227Trp) | gnomAD v4 |
16 | g.89919938G>A | CA8255710 | MC1R | c.680G>A (p.Arg227Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919938G>C | CA397462737 | MC1R | c.680G>C (p.Arg227Thr) | |
16 | g.89919938G= | CA2242009725 | MC1R | c.680G= (p.Arg227=) | |
16 | g.89919938G>T | CA397462739 | MC1R | c.680G>T (p.Arg227Met) | |
16 | g.89919939G>A | CA497381127 | MC1R | c.681G>A (p.Arg227=) | |
16 | g.89919939G>C | CA397462744 | MC1R | c.681G>C (p.Arg227Ser) | |
16 | g.89919939G>T | CA397462745 | MC1R | c.681G>T (p.Arg227Ser) | gnomAD v4 |
16 | g.89919940C>A | CA397462747 | MC1R | c.682C>A (p.Gln228Lys) | |
16 | g.89919940C= | CA2242009726 | MC1R | c.682C= (p.Gln228=) | |
16 | g.89919940C>G | CA397462751 | MC1R | c.682C>G (p.Gln228Glu) | |
16 | g.89919940C>T | CA286607599 | MC1R | c.682C>T (p.Gln228Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919941A>C | CA397462755 | MC1R | c.683A>C (p.Gln228Pro) | |
16 | g.89919941A>G | CA397462757 | MC1R | c.683A>G (p.Gln228Arg) | |
16 | g.89919941A>T | CA397462754 | MC1R | c.683A>T (p.Gln228Leu) | |
16 | g.89919942G>A | CA497381147 | MC1R | c.684G>A (p.Gln228=) | gnomAD v4 |
16 | g.89919942G>C | CA397462758 | MC1R | c.684G>C (p.Gln228His) | |
16 | g.89919942G>T | CA397462760 | MC1R | c.684G>T (p.Gln228His) | gnomAD v4 |
16 | g.89919942_89919943delinsGC | CA2242009727 | MC1R | c.684_685delinsGC (p.Gln228=) | |
16 | g.89919943del | CA8255711 | MC1R | c.685del (p.Arg229AlafsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919943C>A | CA397462761 | MC1R | c.685C>A (p.Arg229Ser) | |
16 | g.89919943C= | CA2242009728 | MC1R | c.685C= (p.Arg229=) | |
16 | g.89919943C>G | CA397462762 | MC1R | c.685C>G (p.Arg229Gly) | |
16 | g.89919943C>T | CA397462763 | MC1R | c.685C>T (p.Arg229Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.89919943dup | CA2635067044 | MC1R | c.685dup (p.Arg229ProfsTer10) | gnomAD v4 |
16 | g.89919944_89919946dup | CA2740095170 | MC1R | c.686_688dup (p.Arg229_Pro230insArg) | ClinVar |
16 | g.89919945_89919948dup | CA2573152827 | MC1R | c.687_690dup (p.Val231ProfsTer9) | ClinVar dbSNP |
16 | g.89919944G>A | CA8255712 | MC1R | c.686G>A (p.Arg229His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919944G>C | CA397462764 | MC1R | c.686G>C (p.Arg229Pro) | |
16 | g.89919944G= | CA2242009729 | MC1R | c.686G= (p.Arg229=) | |
16 | g.89919944G>T | CA397462766 | MC1R | c.686G>T (p.Arg229Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919944_89919945delinsGC | CA2242009730 | MC1R | c.686_687delinsGC (p.Arg229=) | |
16 | g.89919945C>A | CA497381152 | MC1R | c.687C>A (p.Arg229=) | |
16 | g.89919945C= | CA2242009731 | MC1R | c.687C= (p.Arg229=) | |
16 | g.89919945C>G | CA497381154 | MC1R | c.687C>G (p.Arg229=) | |
16 | g.89919945C>T | CA8255713 | MC1R | c.687C>T (p.Arg229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919947del | CA624455319 | MC1R | c.689del (p.Pro230ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919946C>A | CA397462770 | MC1R | c.688C>A (p.Pro230Thr) | gnomAD v4 |
16 | g.89919946C>G | CA397462771 | MC1R | c.688C>G (p.Pro230Ala) | |
16 | g.89919946C>T | CA397462772 | MC1R | c.688C>T (p.Pro230Ser) | gnomAD v4 |
16 | g.89919947C>A | CA397462781 | MC1R | c.689C>A (p.Pro230Gln) | gnomAD v4 |
16 | g.89919947C= | CA2242009732 | MC1R | c.689C= (p.Pro230=) | |
16 | g.89919947C>G | CA397462776 | MC1R | c.689C>G (p.Pro230Arg) | |
16 | g.89919947C>T | CA8255714 | MC1R | c.689C>T (p.Pro230Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919948G>A | CA8255715 | MC1R | c.690G>A (p.Pro230=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919948G>C | CA497381160 | MC1R | c.690G>C (p.Pro230=) | gnomAD v4 |
16 | g.89919948G= | CA2242009733 | MC1R | c.690G= (p.Pro230=) | |
16 | g.89919948G>T | CA497381161 | MC1R | c.690G>T (p.Pro230=) | gnomAD v4 |
16 | g.89919949G>A | CA397462784 | MC1R | c.691G>A (p.Val231Ile) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919949G>C | CA397462787 | MC1R | c.691G>C (p.Val231Leu) | gnomAD v4 |
16 | g.89919949G= | CA2242009734 | MC1R | c.691G= (p.Val231=) | |
16 | g.89919949G>T | CA397462788 | MC1R | c.691G>T (p.Val231Phe) | gnomAD v4 |
16 | g.89919950T>A | CA397462789 | MC1R | c.692T>A (p.Val231Asp) | |
16 | g.89919950T>C | CA397462790 | MC1R | c.692T>C (p.Val231Ala) | |
16 | g.89919950T>G | CA397462791 | MC1R | c.692T>G (p.Val231Gly) | |
16 | g.89919951C>A | CA497381166 | MC1R | c.693C>A (p.Val231=) | gnomAD v4 |
16 | g.89919951C>G | CA497381167 | MC1R | c.693C>G (p.Val231=) | |
16 | g.89919951C>T | CA497381168 | MC1R | c.693C>T (p.Val231=) | |
16 | g.89919952C>A | CA397462792 | MC1R | c.694C>A (p.His232Asn) | |
16 | g.89919952C>G | CA397462794 | MC1R | c.694C>G (p.His232Asp) | |
16 | g.89919952C>T | CA397462796 | MC1R | c.694C>T (p.His232Tyr) | |
16 | g.89919953A>C | CA397462797 | MC1R | c.695A>C (p.His232Pro) | |
16 | g.89919953A>G | CA397462798 | MC1R | c.695A>G (p.His232Arg) | |
16 | g.89919953A>T | CA397462800 | MC1R | c.695A>T (p.His232Leu) | |
16 | g.89919954C>A | CA397462804 | MC1R | c.696C>A (p.His232Gln) | |
16 | g.89919954C>G | CA397462803 | MC1R | c.696C>G (p.His232Gln) | |
16 | g.89919954C>T | CA497381176 | MC1R | c.696C>T (p.His232=) | gnomAD v4 |
16 | g.89919955C>A | CA397462807 | MC1R | c.697C>A (p.Gln233Lys) | |
16 | g.89919955C= | CA2242009735 | MC1R | c.697C= (p.Gln233=) | |
16 | g.89919955C>G | CA397462808 | MC1R | c.697C>G (p.Gln233Glu) | |
16 | g.89919955C>T | CA397462810 | MC1R | c.697C>T (p.Gln233Ter) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919956A>C | CA397462813 | MC1R | c.698A>C (p.Gln233Pro) | ClinVar dbSNP |
16 | g.89919956A>G | CA397462814 | MC1R | c.698A>G (p.Gln233Arg) | |
16 | g.89919956A>T | CA397462817 | MC1R | c.698A>T (p.Gln233Leu) | |
16 | g.89919956dup | CA658658520 | MC1R | c.698dup (p.Phe235LeufsTer4) | ClinVar dbSNP gnomAD v4 |
16 | g.89919957G>A | CA8255716 | MC1R | c.699G>A (p.Gln233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919957G>C | CA397462821 | MC1R | c.699G>C (p.Gln233His) | dbSNP |
16 | g.89919957G= | CA2242009736 | MC1R | c.699G= (p.Gln233=) | |
16 | g.89919957G>T | CA397462819 | MC1R | c.699G>T (p.Gln233His) | |
16 | g.89919959del | CA2635067083 | MC1R | c.701del (p.Gly234AlafsTer?) | gnomAD v4 |
16 | g.89919958G>A | CA397462825 | MC1R | c.700G>A (p.Gly234Ser) | |
16 | g.89919958G>C | CA397462828 | MC1R | c.700G>C (p.Gly234Arg) | |
16 | g.89919958G>T | CA397462830 | MC1R | c.700G>T (p.Gly234Cys) | gnomAD v4 |
16 | g.89919959G>A | CA397462832 | MC1R | c.701G>A (p.Gly234Asp) | gnomAD v4 |
16 | g.89919959G>C | CA397462834 | MC1R | c.701G>C (p.Gly234Ala) | |
16 | g.89919959G>T | CA397462837 | MC1R | c.701G>T (p.Gly234Val) | gnomAD v4 |
16 | g.89919960C>A | CA497381184 | MC1R | c.702C>A (p.Gly234=) | |
16 | g.89919960C>G | CA497381185 | MC1R | c.702C>G (p.Gly234=) | gnomAD v4 |
16 | g.89919960C>T | CA497381187 | MC1R | c.702C>T (p.Gly234=) | gnomAD v4 |
16 | g.89919961T>A | CA397462838 | MC1R | c.703T>A (p.Phe235Ile) | |
16 | g.89919961T>C | CA397462841 | MC1R | c.703T>C (p.Phe235Leu) | |
16 | g.89919961T>G | CA397462840 | MC1R | c.703T>G (p.Phe235Val) | |
16 | g.89919962T>A | CA397462842 | MC1R | c.704T>A (p.Phe235Tyr) | |
16 | g.89919962T>C | CA397462845 | MC1R | c.704T>C (p.Phe235Ser) | |
16 | g.89919962T>G | CA397462847 | MC1R | c.704T>G (p.Phe235Cys) | gnomAD v4 |
16 | g.89919963T>A | CA397462849 | MC1R | c.705T>A (p.Phe235Leu) | |
16 | g.89919963T>C | CA497381192 | MC1R | c.705T>C (p.Phe235=) | |
16 | g.89919963T>G | CA397462852 | MC1R | c.705T>G (p.Phe235Leu) | |
16 | g.89919963T= | CA2242009737 | MC1R | c.705T= (p.Phe235=) | |
16 | g.89919964G>A | CA397462856 | MC1R | c.706G>A (p.Gly236Ser) | |
16 | g.89919964G>C | CA397462858 | MC1R | c.706G>C (p.Gly236Arg) | |
16 | g.89919964G= | CA2242009738 | MC1R | c.706G= (p.Gly236=) | |
16 | g.89919964G>T | CA397462860 | MC1R | c.706G>T (p.Gly236Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919965dup | CA725762224 | MC1R | c.707dup (p.Leu237ProfsTer2) | dbSNP gnomAD v4 |
16 | g.89919965G>A | CA397462863 | MC1R | c.707G>A (p.Gly236Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919965G>C | CA397462865 | MC1R | c.707G>C (p.Gly236Ala) | |
16 | g.89919965G= | CA2242009739 | MC1R | c.707G= (p.Gly236=) | |
16 | g.89919965G>T | CA397462868 | MC1R | c.707G>T (p.Gly236Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919966C>A | CA497381194 | MC1R | c.708C>A (p.Gly236=) | gnomAD v4 |
16 | g.89919966C= | CA2242009740 | MC1R | c.708C= (p.Gly236=) | |
16 | g.89919966C>G | CA497381196 | MC1R | c.708C>G (p.Gly236=) | |
16 | g.89919966C>T | CA8255717 | MC1R | c.708C>T (p.Gly236=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919967C>A | CA397462880 | MC1R | c.709C>A (p.Leu237Ile) | |
16 | g.89919967C= | CA2242009741 | MC1R | c.709C= (p.Leu237=) | |
16 | g.89919967C>G | CA397462876 | MC1R | c.709C>G (p.Leu237Val) | |
16 | g.89919967C>T | CA286607607 | MC1R | c.709C>T (p.Leu237Phe) | dbSNP gnomAD v4 |
16 | g.89919968T>A | CA397462884 | MC1R | c.710T>A (p.Leu237His) | |
16 | g.89919968T>C | CA397462886 | MC1R | c.710T>C (p.Leu237Pro) | |
16 | g.89919968T>G | CA397462889 | MC1R | c.710T>G (p.Leu237Arg) | |
16 | g.89919969T>A | CA497381204 | MC1R | c.711T>A (p.Leu237=) | |
16 | g.89919969T>C | CA497381206 | MC1R | c.711T>C (p.Leu237=) | |
16 | g.89919969T>G | CA497381207 | MC1R | c.711T>G (p.Leu237=) | |
16 | g.89919969T= | CA2242009742 | MC1R | c.711T= (p.Leu237=) | |
16 | g.89919970A>C | CA397462892 | MC1R | c.712A>C (p.Lys238Gln) | |
16 | g.89919970A>G | CA397462895 | MC1R | c.712A>G (p.Lys238Glu) | |
16 | g.89919970A>T | CA397462899 | MC1R | c.712A>T (p.Lys238Ter) | |
16 | g.89919972dup | CA8255718 | MC1R | c.714dup (p.Gly239ArgfsTer?) | dbSNP ExAC gnomAD v2 |
16 | g.89919971A>C | CA397462909 | MC1R | c.713A>C (p.Lys238Thr) | |
16 | g.89919971A>G | CA397462901 | MC1R | c.713A>G (p.Lys238Arg) | gnomAD v4 |
16 | g.89919971A>T | CA397462904 | MC1R | c.713A>T (p.Lys238Ile) | |
16 | g.89919972A>C | CA397462911 | MC1R | c.714A>C (p.Lys238Asn) | |
16 | g.89919972A>G | CA497381217 | MC1R | c.714A>G (p.Lys238=) | |
16 | g.89919972A>T | CA397462913 | MC1R | c.714A>T (p.Lys238Asn) | gnomAD v4 |
16 | g.89919973G>A | CA397462915 | MC1R | c.715G>A (p.Gly239Ser) | dbSNP |
16 | g.89919973G>C | CA397462917 | MC1R | c.715G>C (p.Gly239Arg) | |
16 | g.89919973G= | CA2242009743 | MC1R | c.715G= (p.Gly239=) | |
16 | g.89919973G>T | CA8255719 | MC1R | c.715G>T (p.Gly239Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919974G>A | CA286607611 | MC1R | c.716G>A (p.Gly239Asp) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919974G>C | CA397462928 | MC1R | c.716G>C (p.Gly239Ala) | |
16 | g.89919974G= | CA2242009744 | MC1R | c.716G= (p.Gly239=) | |
16 | g.89919974G>T | CA397462923 | MC1R | c.716G>T (p.Gly239Val) | |
16 | g.89919974_89919983del | CA2635067119 | MC1R | c.716_725del (p.Gly239AlafsTer?) | gnomAD v4 |
16 | g.89919975C>A | CA497381224 | MC1R | c.717C>A (p.Gly239=) | |
16 | g.89919975C= | CA2242009745 | MC1R | c.717C= (p.Gly239=) | |
16 | g.89919975C>G | CA497381226 | MC1R | c.717C>G (p.Gly239=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919975C>T | CA8255720 | MC1R | c.717C>T (p.Gly239=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919976_89919987del | CA2635067122 | MC1R | c.718_729del (p.Ala240_Leu243del) | gnomAD v4 |
16 | g.89919976G>A | CA8255721 | MC1R | c.718G>A (p.Ala240Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919976G>C | CA397462932 | MC1R | c.718G>C (p.Ala240Pro) | |
16 | g.89919976G= | CA2242009746 | MC1R | c.718G= (p.Ala240=) | |
16 | g.89919976G>T | CA397462935 | MC1R | c.718G>T (p.Ala240Ser) | dbSNP gnomAD v4 |
16 | g.89919977C>A | CA397462938 | MC1R | c.719C>A (p.Ala240Asp) | |
16 | g.89919977C= | CA2242009747 | MC1R | c.719C= (p.Ala240=) | |
16 | g.89919977C>G | CA397462940 | MC1R | c.719C>G (p.Ala240Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919977C>T | CA397462942 | MC1R | c.719C>T (p.Ala240Val) | ClinVar dbSNP gnomAD v4 |
16 | g.89919978T>A | CA497381233 | MC1R | c.720T>A (p.Ala240=) | |
16 | g.89919978T>C | CA8255722 | MC1R | c.720T>C (p.Ala240=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919978T>G | CA497381234 | MC1R | c.720T>G (p.Ala240=) | |
16 | g.89919978T= | CA2242009748 | MC1R | c.720T= (p.Ala240=) | |
16 | g.89919979G>A | CA397462946 | MC1R | c.721G>A (p.Val241Ile) | |
16 | g.89919979G>C | CA397462964 | MC1R | c.721G>C (p.Val241Leu) | |
16 | g.89919979G= | CA2242009749 | MC1R | c.721G= (p.Val241=) | |
16 | g.89919979G>T | CA397462965 | MC1R | c.721G>T (p.Val241Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919980T>A | CA397462970 | MC1R | c.722T>A (p.Val241Asp) | |
16 | g.89919980T>C | CA397462967 | MC1R | c.722T>C (p.Val241Ala) | |
16 | g.89919980T>G | CA397462968 | MC1R | c.722T>G (p.Val241Gly) | |
16 | g.89919981C>A | CA497381238 | MC1R | c.723C>A (p.Val241=) | gnomAD v4 |
16 | g.89919981C>G | CA497381239 | MC1R | c.723C>G (p.Val241=) | |
16 | g.89919981C>T | CA497381240 | MC1R | c.723C>T (p.Val241=) | ClinVar gnomAD v4 |
16 | g.89919982A= | CA2242009750 | MC1R | c.724A= (p.Thr242=) | |
16 | g.89919982A>C | CA397462976 | MC1R | c.724A>C (p.Thr242Pro) | gnomAD v4 |
16 | g.89919982A>G | CA397462979 | MC1R | c.724A>G (p.Thr242Ala) | ClinVar dbSNP |
16 | g.89919982A>T | CA397462980 | MC1R | c.724A>T (p.Thr242Ser) | |
16 | g.89919982dup | CA2695224049 | MC1R | c.724dup (p.Thr242AsnfsTer?) | |
16 | g.89919983C>A | CA397462982 | MC1R | c.725C>A (p.Thr242Asn) | |
16 | g.89919983C= | CA2242009751 | MC1R | c.725C= (p.Thr242=) | |
16 | g.89919983C>G | CA286607617 | MC1R | c.725C>G (p.Thr242Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919983C>T | CA8255723 | MC1R | c.725C>T (p.Thr242Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919984C>A | CA497381245 | MC1R | c.726C>A (p.Thr242=) | COSMIC |
16 | g.89919984C= | CA2242009753 | MC1R | c.726C= (p.Thr242=) | |
16 | g.89919984C>G | CA497381247 | MC1R | c.726C>G (p.Thr242=) | ClinVar gnomAD v2 |
16 | g.89919984C>T | CA8255725 | MC1R | c.726C>T (p.Thr242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919984_89919986delinsCCT | CA2242009752 | MC1R | c.726_728delinsCCT (p.Thr242=) | |
16 | g.89919985C>A | CA397463001 | MC1R | c.727C>A (p.Leu243Ile) | |
16 | g.89919985C= | CA2242009754 | MC1R | c.727C= (p.Leu243=) | |
16 | g.89919985C>G | CA397462995 | MC1R | c.727C>G (p.Leu243Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919985C>T | CA397462998 | MC1R | c.727C>T (p.Leu243Phe) | gnomAD v4 |
16 | g.89919986_89919987del | CA8255724 | MC1R | c.728_729del (p.Leu243HisfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919986T>A | CA397463004 | MC1R | c.728T>A (p.Leu243His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919986T>C | CA397463006 | MC1R | c.728T>C (p.Leu243Pro) | gnomAD v4 |
16 | g.89919986T>G | CA397463009 | MC1R | c.728T>G (p.Leu243Arg) | |
16 | g.89919986T= | CA2242009755 | MC1R | c.728T= (p.Leu243=) | |
16 | g.89919987C>A | CA497381260 | MC1R | c.729C>A (p.Leu243=) | |
16 | g.89919987C= | CA2242009756 | MC1R | c.729C= (p.Leu243=) | |
16 | g.89919987C>G | CA497381261 | MC1R | c.729C>G (p.Leu243=) | |
16 | g.89919987C>T | CA8255726 | MC1R | c.729C>T (p.Leu243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919988A= | CA2242009757 | MC1R | c.730A= (p.Thr244=) | |
16 | g.89919988A>C | CA8255728 | MC1R | c.730A>C (p.Thr244Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919988A>G | CA397463013 | MC1R | c.730A>G (p.Thr244Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919988A>T | CA397463015 | MC1R | c.730A>T (p.Thr244Ser) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919988_89919992delinsACCAT | CA2242009758 | MC1R | c.730_734delinsACCAT (p.Thr244=) | |
16 | g.89919988_89920000delinsACCATCCTGCTGG | CA2242009759 | MC1R | c.730_742delinsACCATCCTGCTGG (p.Thr244=) | |
16 | g.89919989C>A | CA8255729 | MC1R | c.731C>A (p.Thr244Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919989C= | CA2242009760 | MC1R | c.731C= (p.Thr244=) | |
16 | g.89919989C>G | CA397463021 | MC1R | c.731C>G (p.Thr244Ser) | |
16 | g.89919989C>T | CA397463024 | MC1R | c.731C>T (p.Thr244Ile) | dbSNP gnomAD v2 |
16 | g.89919991_89919994del | CA725762270 | MC1R | c.733_736del (p.Ile245CysfsTer?) | dbSNP |
16 | g.89919989_89920000del | CA8255727 | MC1R | c.731_742del (p.Thr244_Gly248delinsSer) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919990C>A | CA497381269 | MC1R | c.732C>A (p.Thr244=) | |
16 | g.89919990C>G | CA497381270 | MC1R | c.732C>G (p.Thr244=) | |
16 | g.89919990C>T | CA497381271 | MC1R | c.732C>T (p.Thr244=) | |
16 | g.89919991A>C | CA397463028 | MC1R | c.733A>C (p.Ile245Leu) | gnomAD v4 |
16 | g.89919991A>G | CA397463030 | MC1R | c.733A>G (p.Ile245Val) | gnomAD v4 |
16 | g.89919991A>T | CA397463033 | MC1R | c.733A>T (p.Ile245Phe) | |
16 | g.89919992T>A | CA397463036 | MC1R | c.734T>A (p.Ile245Asn) | |
16 | g.89919992T>C | CA397463038 | MC1R | c.734T>C (p.Ile245Thr) | |
16 | g.89919992T>G | CA397463040 | MC1R | c.734T>G (p.Ile245Ser) | gnomAD v4 |
16 | g.89919993C>A | CA497381277 | MC1R | c.735C>A (p.Ile245=) | |
16 | g.89919993C>G | CA397463044 | MC1R | c.735C>G (p.Ile245Met) | |
16 | g.89919993C>T | CA497381278 | MC1R | c.735C>T (p.Ile245=) | |
16 | g.89919994del | CA2576104037 | MC1R | c.736del (p.Leu246CysfsTer?) | |
16 | g.89919994C>A | CA397463046 | MC1R | c.736C>A (p.Leu246Met) | |
16 | g.89919994C= | CA2242009761 | MC1R | c.736C= (p.Leu246=) | |
16 | g.89919994C>G | CA397463049 | MC1R | c.736C>G (p.Leu246Val) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919994C>T | CA497381282 | MC1R | c.736C>T (p.Leu246=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919995T>A | CA397463055 | MC1R | c.737T>A (p.Leu246Gln) | |
16 | g.89919995T>C | CA397463058 | MC1R | c.737T>C (p.Leu246Pro) | |
16 | g.89919995T>G | CA397463057 | MC1R | c.737T>G (p.Leu246Arg) |