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.89919865A= | CA2242009673 | MC1R | c.607A= (p.Met203=) | |
16 | g.89919865A>C | CA397462283 | MC1R | c.607A>C (p.Met203Leu) | |
16 | g.89919865A>G | CA8255676 | MC1R | c.607A>G (p.Met203Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919865A>T | CA8255675 | MC1R | c.607A>T (p.Met203Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919866T>A | CA397462292 | MC1R | c.608T>A (p.Met203Lys) | |
16 | g.89919866T>C | CA8255678 | MC1R | c.608T>C (p.Met203Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919866T>G | CA397462300 | MC1R | c.608T>G (p.Met203Arg) | |
16 | g.89919866T= | CA2242009675 | MC1R | c.608T= (p.Met203=) | |
16 | g.89919871_89919894dup | CA2635066786 | MC1R | c.613_636dup (p.Ala212_Arg213insValLeuTyrValHisMetLeuAla) | gnomAD v4 |
16 | g.89919866_89919896delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG | CA2242009674 | MC1R | c.608_638delinsTGGCCGTGCTGTACGTCCACATGCTGGCCCG (p.Met203=) | |
16 | g.89919867G>A | CA397462308 | MC1R | c.609G>A (p.Met203Ile) | gnomAD v4 |
16 | g.89919867G>C | CA397462310 | MC1R | c.609G>C (p.Met203Ile) | |
16 | g.89919867G= | CA2242009676 | MC1R | c.609G= (p.Met203=) | |
16 | g.89919867G>T | CA397462313 | MC1R | c.609G>T (p.Met203Ile) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919871_89919900del | CA8255677 | MC1R | c.613_642del (p.Val205_Ala214del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919868G>A | CA397462319 | MC1R | c.610G>A (p.Ala204Thr) | gnomAD v4 |
16 | g.89919868G>C | CA397462321 | MC1R | c.610G>C (p.Ala204Pro) | |
16 | g.89919868G>T | CA397462325 | MC1R | c.610G>T (p.Ala204Ser) | |
16 | g.89919869C>A | CA397462344 | MC1R | c.611C>A (p.Ala204Asp) | |
16 | g.89919869C>G | CA397462333 | MC1R | c.611C>G (p.Ala204Gly) | COSMIC |
16 | g.89919869C>T | CA397462330 | MC1R | c.611C>T (p.Ala204Val) | gnomAD v4 COSMIC |
16 | g.89919870C>A | CA497380964 | MC1R | c.612C>A (p.Ala204=) | gnomAD v4 |
16 | g.89919870C= | CA2242009677 | MC1R | c.612C= (p.Ala204=) | |
16 | g.89919870C>G | CA497380965 | MC1R | c.612C>G (p.Ala204=) | dbSNP |
16 | g.89919870C>T | CA8255679 | MC1R | c.612C>T (p.Ala204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919871del | CA2576104032 | MC1R | c.613del (p.Val205CysfsTer?) | |
16 | g.89919871G>A | CA8255680 | MC1R | c.613G>A (p.Val205Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.89919871G>C | CA397462347 | MC1R | c.613G>C (p.Val205Leu) | dbSNP gnomAD v4 |
16 | g.89919871G= | CA2242009678 | MC1R | c.613G= (p.Val205=) | |
16 | g.89919871G>T | CA397462348 | MC1R | c.613G>T (p.Val205Leu) | dbSNP |
16 | g.89919872T>A | CA397462349 | MC1R | c.614T>A (p.Val205Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919872T>C | CA397462350 | MC1R | c.614T>C (p.Val205Ala) | |
16 | g.89919872T>G | CA397462352 | MC1R | c.614T>G (p.Val205Gly) | |
16 | g.89919872T= | CA2242009679 | MC1R | c.614T= (p.Val205=) | |
16 | g.89919873G>A | CA497380966 | MC1R | c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919873G>C | CA497380967 | MC1R | c.615G>C (p.Val205=) | |
16 | g.89919873G= | CA2242009680 | MC1R | c.615G= (p.Val205=) | |
16 | g.89919873G>T | CA497380968 | MC1R | c.615G>T (p.Val205=) | |
16 | g.89919874C>A | CA397462355 | MC1R | c.616C>A (p.Leu206Met) | |
16 | g.89919874C= | CA2242009681 | MC1R | c.616C= (p.Leu206=) | |
16 | g.89919874C>G | CA8255681 | MC1R | c.616C>G (p.Leu206Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919874C>T | CA497380969 | MC1R | c.616C>T (p.Leu206=) | dbSNP gnomAD v4 |
16 | g.89919875T>A | CA397462365 | MC1R | c.617T>A (p.Leu206Gln) | |
16 | g.89919875T>C | CA8255682 | MC1R | c.617T>C (p.Leu206Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919875T>G | CA397462367 | MC1R | c.617T>G (p.Leu206Arg) | |
16 | g.89919875T= | CA2242009682 | MC1R | c.617T= (p.Leu206=) | |
16 | g.89919876G>A | CA497380970 | MC1R | c.618G>A (p.Leu206=) | gnomAD v4 |
16 | g.89919876G>C | CA497380972 | MC1R | c.618G>C (p.Leu206=) | |
16 | g.89919876G>T | CA497380973 | MC1R | c.618G>T (p.Leu206=) | gnomAD v4 |
16 | g.89919877T>A | CA397462369 | MC1R | c.619T>A (p.Tyr207Asn) | |
16 | g.89919877T>C | CA397462370 | MC1R | c.619T>C (p.Tyr207His) | |
16 | g.89919877T>G | CA397462368 | MC1R | c.619T>G (p.Tyr207Asp) | |
16 | g.89919878A= | CA2242009683 | MC1R | c.620A= (p.Tyr207=) | |
16 | g.89919878A>C | CA397462376 | MC1R | c.620A>C (p.Tyr207Ser) | |
16 | g.89919878A>G | CA397462371 | MC1R | c.620A>G (p.Tyr207Cys) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919878A>T | CA397462374 | MC1R | c.620A>T (p.Tyr207Phe) | |
16 | g.89919879C>A | CA397462379 | MC1R | c.621C>A (p.Tyr207Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919879C= | CA2242009684 | MC1R | c.621C= (p.Tyr207=) | |
16 | g.89919879C>G | CA8255684 | MC1R | c.621C>G (p.Tyr207Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919879C>T | CA8255683 | MC1R | c.621C>T (p.Tyr207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919880G>A | CA8255685 | MC1R | c.622G>A (p.Val208Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919880G>C | CA397462401 | MC1R | c.622G>C (p.Val208Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919880G= | CA2242009685 | MC1R | c.622G= (p.Val208=) | |
16 | g.89919880G>T | CA397462388 | MC1R | c.622G>T (p.Val208Phe) | ClinVar dbSNP |
16 | g.89919881T>A | CA397462405 | MC1R | c.623T>A (p.Val208Asp) | |
16 | g.89919881T>C | CA286607568 | MC1R | c.623T>C (p.Val208Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919881T>G | CA397462409 | MC1R | c.623T>G (p.Val208Gly) | |
16 | g.89919881T= | CA2242009686 | MC1R | c.623T= (p.Val208=) | |
16 | g.89919882C>A | CA497380978 | MC1R | c.624C>A (p.Val208=) | |
16 | g.89919882C>G | CA497380979 | MC1R | c.624C>G (p.Val208=) | |
16 | g.89919882C>T | CA497380980 | MC1R | c.624C>T (p.Val208=) | gnomAD v4 |
16 | g.89919883C>A | CA397462413 | MC1R | c.625C>A (p.His209Asn) | |
16 | g.89919883C= | CA2242009687 | MC1R | c.625C= (p.His209=) | |
16 | g.89919883C>G | CA397462415 | MC1R | c.625C>G (p.His209Asp) | |
16 | g.89919883C>T | CA8255686 | MC1R | c.625C>T (p.His209Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919884A= | CA2242009688 | MC1R | c.626A= (p.His209=) | |
16 | g.89919884A>C | CA397462417 | MC1R | c.626A>C (p.His209Pro) | dbSNP |
16 | g.89919884A>G | CA8255687 | MC1R | c.626A>G (p.His209Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919884A>T | CA397462429 | MC1R | c.626A>T (p.His209Leu) | |
16 | g.89919885C>A | CA397462434 | MC1R | c.627C>A (p.His209Gln) | |
16 | g.89919885C= | CA2242009689 | MC1R | c.627C= (p.His209=) | |
16 | g.89919885C>G | CA397462449 | MC1R | c.627C>G (p.His209Gln) | |
16 | g.89919885C>T | CA497380983 | MC1R | c.627C>T (p.His209=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919886A= | CA2242009690 | MC1R | c.628A= (p.Met210=) | |
16 | g.89919886A>C | CA8255688 | MC1R | c.628A>C (p.Met210Leu) | ClinVar dbSNP ExAC gnomAD v2 |
16 | g.89919886A>G | CA397462451 | MC1R | c.628A>G (p.Met210Val) | ClinVar dbSNP gnomAD v4 |
16 | g.89919886A>T | CA397462454 | MC1R | c.628A>T (p.Met210Leu) | |
16 | g.89919887T>A | CA397462457 | MC1R | c.629T>A (p.Met210Lys) | |
16 | g.89919887T>C | CA8255689 | MC1R | c.629T>C (p.Met210Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919887T>G | CA397462461 | MC1R | c.629T>G (p.Met210Arg) | |
16 | g.89919887T= | CA2242009691 | MC1R | c.629T= (p.Met210=) | |
16 | g.89919887dup | CA2635066860 | MC1R | c.629dup (p.Met210IlefsTer29) | gnomAD v4 |
16 | g.89919888G>A | CA397462464 | MC1R | c.630G>A (p.Met210Ile) | |
16 | g.89919888G>C | CA397462465 | MC1R | c.630G>C (p.Met210Ile) | |
16 | g.89919888G>T | CA397462467 | MC1R | c.630G>T (p.Met210Ile) | gnomAD v4 |
16 | g.89919889C>A | CA397462471 | MC1R | c.631C>A (p.Leu211Met) | |
16 | g.89919889C= | CA2242009692 | MC1R | c.631C= (p.Leu211=) | |
16 | g.89919889C>G | CA8255690 | MC1R | c.631C>G (p.Leu211Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919889C>T | CA497380985 | MC1R | c.631C>T (p.Leu211=) | |
16 | g.89919890T>A | CA397462475 | MC1R | c.632T>A (p.Leu211Gln) | gnomAD v4 |
16 | g.89919890T>C | CA397462477 | MC1R | c.632T>C (p.Leu211Pro) | gnomAD v4 |
16 | g.89919890T>G | CA397462479 | MC1R | c.632T>G (p.Leu211Arg) | |
16 | g.89919891G>A | CA8255691 | MC1R | c.633G>A (p.Leu211=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919891G>C | CA497380988 | MC1R | c.633G>C (p.Leu211=) | gnomAD v4 |
16 | g.89919891G= | CA2242009693 | MC1R | c.633G= (p.Leu211=) | |
16 | g.89919891G>T | CA497380989 | MC1R | c.633G>T (p.Leu211=) | |
16 | g.89919892G>A | CA397462481 | MC1R | c.634G>A (p.Ala212Thr) | gnomAD v4 |
16 | g.89919892G>C | CA397462482 | MC1R | c.634G>C (p.Ala212Pro) | |
16 | g.89919892G= | CA2242009695 | MC1R | c.634G= (p.Ala212=) | |
16 | g.89919892G>T | CA397462483 | MC1R | c.634G>T (p.Ala212Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919892_89919911delinsGCCCGGGCCTGCCAGCACGC | CA2242009694 | MC1R | c.634_653delinsGCCCGGGCCTGCCAGCACGC (p.Ala212=) | |
16 | g.89919893C>A | CA397462484 | MC1R | c.635C>A (p.Ala212Asp) | |
16 | g.89919893C>G | CA397462485 | MC1R | c.635C>G (p.Ala212Gly) | |
16 | g.89919893C>T | CA397462486 | MC1R | c.635C>T (p.Ala212Val) | gnomAD v4 |
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.89919894C>A | CA497380995 | MC1R | c.636C>A (p.Ala212=) | |
16 | g.89919894C>G | CA497380992 | MC1R | c.636C>G (p.Ala212=) | |
16 | g.89919894C>T | CA497380993 | MC1R | c.636C>T (p.Ala212=) | |
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 |