16 | g.89919227dup | CA8255451 | MC1R | c.-32dup (n.-32dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919226_89919229delinsCCAA | CA2242006091 | MC1R | c.-33_-30delinsCCAA (n.-33_-30delinsCCAA)
| |
16 | g.89919227C>A | CA497190057 | MC1R | c.-32C>A (n.-32C>A)
| gnomAD v4 |
16 | g.89919227C>G | CA497190058 | MC1R | c.-32C>G (n.-32C>G)
| |
16 | g.89919227C>T | CA497190059 | MC1R | c.-32C>T (n.-32C>T)
| gnomAD v4 |
16 | g.89919228_89919230del | CA286607306 | MC1R | c.-31_-29del (n.-31_-29del)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919228A= | CA2242006092 | MC1R | c.-31A= (n.-31A=)
| |
16 | g.89919228A>C | CA497380344 | MC1R | c.-31A>C (n.-31A>C)
| |
16 | g.89919228A>G | CA497380346 | MC1R | c.-31A>G (n.-31A>G)
| dbSNP |
16 | g.89919228A>T | CA497380351 | MC1R | c.-31A>T (n.-31A>T)
| |
16 | g.89919229A= | CA2242006093 | MC1R | c.-30A= (n.-30A=)
| |
16 | g.89919229A>C | CA497380354 | MC1R | c.-30A>C (n.-30A>C)
| gnomAD v4 |
16 | g.89919229A>G | CA497380352 | MC1R | c.-30A>G (n.-30A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919229A>T | CA497380353 | MC1R | c.-30A>T (n.-30A>T)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919230C>A | CA497380356 | MC1R | c.-29C>A (n.-29C>A)
| gnomAD v4 |
16 | g.89919230C= | CA2242006096 | MC1R | c.-29C= (n.-29C=)
| |
16 | g.89919230C>G | CA497380358 | MC1R | c.-29C>G (n.-29C>G)
| gnomAD v4 |
16 | g.89919230C>T | CA8255452 | MC1R | c.-29C>T (n.-29C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919231G>A | CA8255453 | MC1R | c.-28G>A (n.-28G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919231G>C | CA497380360 | MC1R | c.-28G>C (n.-28G>C)
| |
16 | g.89919231G= | CA2242006097 | MC1R | c.-28G= (n.-28G=)
| |
16 | g.89919231G>T | CA497380363 | MC1R | c.-28G>T (n.-28G>T)
| gnomAD v4 |
16 | g.89919231_89919237dup | CA2635064335 | MC1R | c.-28_-22dup (n.-28_-22dup)
| gnomAD v4 |
16 | g.89919232A= | CA2242006099 | MC1R | c.-27A= (n.-27A=)
| |
16 | g.89919232A>C | CA497380365 | MC1R | c.-27A>C (n.-27A>C)
| |
16 | g.89919232A>G | CA497380366 | MC1R | c.-27A>G (n.-27A>G)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919232A>T | CA497380367 | MC1R | c.-27A>T (n.-27A>T)
| |
16 | g.89919233C>A | CA497380368 | MC1R | c.-26C>A (n.-26C>A)
| |
16 | g.89919233C= | CA2242006100 | MC1R | c.-26C= (n.-26C=)
| |
16 | g.89919233C>G | CA497380369 | MC1R | c.-26C>G (n.-26C>G)
| |
16 | g.89919233C>T | CA286607310 | MC1R | c.-26C>T (n.-26C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919234T>A | CA497380372 | MC1R | c.-25T>A (n.-25T>A)
| |
16 | g.89919234T>C | CA8255454 | MC1R | c.-25T>C (n.-25T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919234T>G | CA497380371 | MC1R | c.-25T>G (n.-25T>G)
| |
16 | g.89919234T= | CA2242006102 | MC1R | c.-25T= (n.-25T=)
| |
16 | g.89919235C>A | CA497380373 | MC1R | c.-24C>A (n.-24C>A)
| gnomAD v4 |
16 | g.89919235C= | CA2242006105 | MC1R | c.-24C= (n.-24C=)
| |
16 | g.89919235C>G | CA497380374 | MC1R | c.-24C>G (n.-24C>G)
| gnomAD v4 |
16 | g.89919235C>T | CA8255455 | MC1R | c.-24C>T (n.-24C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919236C>A | CA497380375 | MC1R | c.-23C>A (n.-23C>A)
| gnomAD v4 |
16 | g.89919236C= | CA2242006107 | MC1R | c.-23C= (n.-23C=)
| |
16 | g.89919236C>G | CA497380376 | MC1R | c.-23C>G (n.-23C>G)
| |
16 | g.89919236C>T | CA497380377 | MC1R | c.-23C>T (n.-23C>T)
| dbSNP gnomAD v4 |
16 | g.89919237T>A | CA497380380 | MC1R | c.-22T>A (n.-22T>A)
| |
16 | g.89919237T>C | CA497380381 | MC1R | c.-22T>C (n.-22T>C)
| |
16 | g.89919237T>G | CA497380383 | MC1R | c.-22T>G (n.-22T>G)
| |
16 | g.89919238T>A | CA497380384 | MC1R | c.-21T>A (n.-21T>A)
| |
16 | g.89919238T>C | CA497380386 | MC1R | c.-21T>C (n.-21T>C)
| |
16 | g.89919238T>G | CA497380387 | MC1R | c.-21T>G (n.-21T>G)
| |
16 | g.89919239C>A | CA497380388 | MC1R | c.-20C>A (n.-20C>A)
| |
16 | g.89919239C= | CA2242009245 | MC1R | c.-20C= (n.-20C=)
| |
16 | g.89919239C>G | CA497380389 | MC1R | c.-20C>G (n.-20C>G)
| gnomAD v4 |
16 | g.89919239C>T | CA497380390 | MC1R | c.-20C>T (n.-20C>T)
| dbSNP gnomAD v4 |
16 | g.89919240C>A | CA497380392 | MC1R | c.-19C>A (n.-19C>A)
| gnomAD v4 |
16 | g.89919240C= | CA2242009246 | MC1R | c.-19C= (n.-19C=)
| |
16 | g.89919240C>G | CA8255456 | MC1R | c.-19C>G (n.-19C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919240C>T | CA497380391 | MC1R | c.-19C>T (n.-19C>T)
| gnomAD v4 |
16 | g.89919241T>A | CA497380393 | MC1R | c.-18T>A (n.-18T>A)
| |
16 | g.89919241T>C | CA497380395 | MC1R | c.-18T>C (n.-18T>C)
| gnomAD v4 |
16 | g.89919241T>G | CA497380396 | MC1R | c.-18T>G (n.-18T>G)
| |
16 | g.89919242G>A | CA497380397 | MC1R | c.-17G>A (n.-17G>A)
| gnomAD v4 |
16 | g.89919242G>C | CA497380400 | MC1R | c.-17G>C (n.-17G>C)
| |
16 | g.89919242G>T | CA497380402 | MC1R | c.-17G>T (n.-17G>T)
| gnomAD v4 |
16 | g.89919243C>A | CA497380403 | MC1R | c.-16C>A (n.-16C>A)
| gnomAD v4 |
16 | g.89919243C>G | CA497380404 | MC1R | c.-16C>G (n.-16C>G)
| |
16 | g.89919243C>T | CA497380405 | MC1R | c.-16C>T (n.-16C>T)
| gnomAD v4 |
16 | g.89919244T>A | CA497380406 | MC1R | c.-15T>A (n.-15T>A)
| |
16 | g.89919244T>C | CA497380408 | MC1R | c.-15T>C (n.-15T>C)
| gnomAD v4 |
16 | g.89919244T>G | CA497380409 | MC1R | c.-15T>G (n.-15T>G)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919244T= | CA2242009247 | MC1R | c.-15T= (n.-15T=)
| |
16 | g.89919245T>A | CA497380414 | MC1R | c.-14T>A (n.-14T>A)
| |
16 | g.89919245T>C | CA497380413 | MC1R | c.-14T>C (n.-14T>C)
| gnomAD v4 |
16 | g.89919245T>G | CA497380411 | MC1R | c.-14T>G (n.-14T>G)
| |
16 | g.89919245_89919275delinsTCCTGGACAGGACTATGGCTGTGCAGGGATC | CA2242009248 | MC1R | c.-14_17delinsTCCTGGACAGGACTATGGCTGTGCAGGGATC
| |
16 | g.89919246C>A | CA497380417 | MC1R | c.-13C>A (n.-13C>A)
| |
16 | g.89919246C= | CA2242009249 | MC1R | c.-13C= (n.-13C=)
| |
16 | g.89919246C>G | CA497380416 | MC1R | c.-13C>G (n.-13C>G)
| |
16 | g.89919246C>T | CA8255457 | MC1R | c.-13C>T (n.-13C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919248_89919277del | CA624455296 | MC1R | c.-11_19del
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919247C>A | CA497380418 | MC1R | c.-12C>A (n.-12C>A)
| gnomAD v4 |
16 | g.89919247C= | CA2242009250 | MC1R | c.-12C= (n.-12C=)
| |
16 | g.89919247C>G | CA497380420 | MC1R | c.-12C>G (n.-12C>G)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919247C>T | CA497380421 | MC1R | c.-12C>T (n.-12C>T)
| |
16 | g.89919248T>A | CA497380424 | MC1R | c.-11T>A (n.-11T>A)
| |
16 | g.89919248T>C | CA497380423 | MC1R | c.-11T>C (n.-11T>C)
| gnomAD v4 |
16 | g.89919248T>G | CA497380422 | MC1R | c.-11T>G (n.-11T>G)
| |
16 | g.89919249G>A | CA497380426 | MC1R | c.-10G>A (n.-10G>A)
| gnomAD v4 |
16 | g.89919249G>C | CA497380427 | MC1R | c.-10G>C (n.-10G>C)
| |
16 | g.89919249G>T | CA497380428 | MC1R | c.-10G>T (n.-10G>T)
| gnomAD v4 |
16 | g.89919250del | CA2576103971 | MC1R | c.-9del (n.-9del)
| |
16 | g.89919250G>A | CA497380429 | MC1R | c.-9G>A (n.-9G>A)
| dbSNP gnomAD v4 |
16 | g.89919250G>C | CA497380430 | MC1R | c.-9G>C (n.-9G>C)
| |
16 | g.89919250G= | CA2242009251 | MC1R | c.-9G= (n.-9G=)
| |
16 | g.89919250G>T | CA497380431 | MC1R | c.-9G>T (n.-9G>T)
| gnomAD v4 |
16 | g.89919251A= | CA2242009252 | MC1R | c.-8A= (n.-8A=)
| |
16 | g.89919251A>C | CA497380432 | MC1R | c.-8A>C (n.-8A>C)
| |
16 | g.89919251A>G | CA497380435 | MC1R | c.-8A>G (n.-8A>G)
| dbSNP |
16 | g.89919251A>T | CA497380433 | MC1R | c.-8A>T (n.-8A>T)
| dbSNP COSMIC COSMIC COSMIC |
16 | g.89919252C>A | CA497380437 | MC1R | c.-7C>A (n.-7C>A)
| |
16 | g.89919252C= | CA2242009253 | MC1R | c.-7C= (n.-7C=)
| |
16 | g.89919252C>G | CA497380439 | MC1R | c.-7C>G (n.-7C>G)
| |
16 | g.89919252C>T | CA497380440 | MC1R | c.-7C>T (n.-7C>T)
| dbSNP |
16 | g.89919253A= | CA2242009254 | MC1R | c.-6A= (n.-6A=)
| |
16 | g.89919253A>C | CA497380441 | MC1R | c.-6A>C (n.-6A>C)
| gnomAD v4 |
16 | g.89919253A>G | CA497380442 | MC1R | c.-6A>G (n.-6A>G)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919253A>T | CA497380444 | MC1R | c.-6A>T (n.-6A>T)
| |
16 | g.89919254G>A | CA497380446 | MC1R | c.-5G>A (n.-5G>A)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919254G>C | CA497380447 | MC1R | c.-5G>C (n.-5G>C)
| |
16 | g.89919254G= | CA2242009255 | MC1R | c.-5G= (n.-5G=)
| |
16 | g.89919254G>T | CA497380448 | MC1R | c.-5G>T (n.-5G>T)
| gnomAD v4 |
16 | g.89919255G>A | CA497380449 | MC1R | c.-4G>A (n.-4G>A)
| |
16 | g.89919255G>C | CA497380451 | MC1R | c.-4G>C (n.-4G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919255G= | CA2242009256 | MC1R | c.-4G= (n.-4G=)
| |
16 | g.89919255G>T | CA497380453 | MC1R | c.-4G>T (n.-4G>T)
| gnomAD v4 |
16 | g.89919256_89919261del | CA2576103976 | MC1R | c.-3_3del
| gnomAD v4 |
16 | g.89919256A>C | CA497380455 | MC1R | c.-3A>C (n.-3A>C)
| gnomAD v4 |
16 | g.89919256A>G | CA497380456 | MC1R | c.-3A>G (n.-3A>G)
| gnomAD v4 |
16 | g.89919256A>T | CA497380454 | MC1R | c.-3A>T (n.-3A>T)
| |
16 | g.89919257C>A | CA497380457 | MC1R | c.-2C>A (n.-2C>A)
| |
16 | g.89919257C= | CA2242009257 | MC1R | c.-2C= (n.-2C=)
| |
16 | g.89919257C>G | CA497380458 | MC1R | c.-2C>G (n.-2C>G)
| gnomAD v4 |
16 | g.89919257C>T | CA8255458 | MC1R | c.-2C>T (n.-2C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919258T>A | CA497380459 | MC1R | c.-1T>A (n.-1T>A)
| |
16 | g.89919258T>C | CA497380460 | MC1R | c.-1T>C (n.-1T>C)
| |
16 | g.89919258T>G | CA497380461 | MC1R | c.-1T>G (n.-1T>G)
| |
16 | g.89919259A>C | CA397458847 | MC1R | c.1A>C (p.Met1Leu)
| |
16 | g.89919259A>G | CA397458848 | MC1R | c.1A>G (p.Met1Val)
| gnomAD v4 |
16 | g.89919259A>T | CA397458851 | MC1R | c.1A>T (p.Met1Leu)
| |
16 | g.89919260T>A | CA397458858 | MC1R | c.2T>A (p.Met1Lys)
| |
16 | g.89919260T>C | CA286607316 | MC1R | c.2T>C (p.Met1Thr)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919260T>G | CA397458852 | MC1R | c.2T>G (p.Met1Arg)
| |
16 | g.89919260T= | CA2242009258 | MC1R | c.2T= (p.Met1=)
| |
16 | g.89919261G>A | CA286607318 | MC1R | c.3G>A (p.Met1Ile)
| dbSNP |
16 | g.89919261G>C | CA397458872 | MC1R | c.3G>C (p.Met1Ile)
| |
16 | g.89919261G= | CA2242009259 | MC1R | c.3G= (p.Met1=)
| |
16 | g.89919261G>T | CA397458874 | MC1R | c.3G>T (p.Met1Ile)
| |
16 | g.89919262G>A | CA397458875 | MC1R | c.4G>A (p.Ala2Thr)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919262G>C | CA397458876 | MC1R | c.4G>C (p.Ala2Pro)
| |
16 | g.89919262G= | CA2242009260 | MC1R | c.4G= (p.Ala2=)
| |
16 | g.89919262G>T | CA397458877 | MC1R | c.4G>T (p.Ala2Ser)
| ClinVar dbSNP gnomAD v4 |
16 | g.89919263C>A | CA397458882 | MC1R | c.5C>A (p.Ala2Asp)
| gnomAD v4 |
16 | g.89919263C= | CA2242009261 | MC1R | c.5C= (p.Ala2=)
| |
16 | g.89919263C>G | CA397458881 | MC1R | c.5C>G (p.Ala2Gly)
| dbSNP gnomAD v4 |
16 | g.89919263C>T | CA397458879 | MC1R | c.5C>T (p.Ala2Val)
| dbSNP gnomAD v4 |
16 | g.89919264T>A | CA497380467 | MC1R | c.6T>A (p.Ala2=)
| |
16 | g.89919264T>C | CA286607324 | MC1R | c.6T>C (p.Ala2=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919264T>G | CA497380469 | MC1R | c.6T>G (p.Ala2=)
| |
16 | g.89919264T= | CA2242009262 | MC1R | c.6T= (p.Ala2=)
| |
16 | g.89919265del | CA2635064547 | MC1R | c.7del (p.Val3CysfsTer?)
| gnomAD v4 |
16 | g.89919265G>A | CA397458884 | MC1R | c.7G>A (p.Val3Met)
| ClinVar dbSNP gnomAD v4 |
16 | g.89919265G>C | CA397458885 | MC1R | c.7G>C (p.Val3Leu)
| |
16 | g.89919265G= | CA2242009263 | MC1R | c.7G= (p.Val3=)
| |
16 | g.89919265G>T | CA397458887 | MC1R | c.7G>T (p.Val3Leu)
| |
16 | g.89919266T>A | CA397458888 | MC1R | c.8T>A (p.Val3Glu)
| |
16 | g.89919266T>C | CA397458890 | MC1R | c.8T>C (p.Val3Ala)
| |
16 | g.89919266T>G | CA397458892 | MC1R | c.8T>G (p.Val3Gly)
| gnomAD v4 |
16 | g.89919267G>A | CA497380470 | MC1R | c.9G>A (p.Val3=)
| |
16 | g.89919267G>C | CA497380474 | MC1R | c.9G>C (p.Val3=)
| |
16 | g.89919267G>T | CA497380471 | MC1R | c.9G>T (p.Val3=)
| gnomAD v4 |
16 | g.89919268C>A | CA397458894 | MC1R | c.10C>A (p.Gln4Lys)
| gnomAD v4 |
16 | g.89919268C= | CA2242009264 | MC1R | c.10C= (p.Gln4=)
| |
16 | g.89919268C>G | CA397458898 | MC1R | c.10C>G (p.Gln4Glu)
| |
16 | g.89919268C>T | CA397458896 | MC1R | c.10C>T (p.Gln4Ter)
| ClinVar dbSNP gnomAD v4 |
16 | g.89919269A>C | CA397458900 | MC1R | c.11A>C (p.Gln4Pro)
| |
16 | g.89919269A>G | CA397458902 | MC1R | c.11A>G (p.Gln4Arg)
| gnomAD v3 gnomAD v4 |
16 | g.89919269A>T | CA397458904 | MC1R | c.11A>T (p.Gln4Leu)
| ClinVar |
16 | g.89919270G>A | CA497380475 | MC1R | c.12G>A (p.Gln4=)
| gnomAD v4 |
16 | g.89919270G>C | CA397458906 | MC1R | c.12G>C (p.Gln4His)
| |
16 | g.89919270G>T | CA397458908 | MC1R | c.12G>T (p.Gln4His)
| gnomAD v4 |
16 | g.89919271G>A | CA397458911 | MC1R | c.13G>A (p.Gly5Arg)
| gnomAD v4 |
16 | g.89919271G>C | CA397458913 | MC1R | c.13G>C (p.Gly5Arg)
| |
16 | g.89919271G>T | CA397458914 | MC1R | c.13G>T (p.Gly5Ter)
| |
16 | g.89919272G>A | CA397458916 | MC1R | c.14G>A (p.Gly5Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919272G>C | CA397458918 | MC1R | c.14G>C (p.Gly5Ala)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919272G= | CA2242009265 | MC1R | c.14G= (p.Gly5=)
| |
16 | g.89919272G>T | CA397458921 | MC1R | c.14G>T (p.Gly5Val)
| gnomAD v4 |
16 | g.89919273A>C | CA497380479 | MC1R | c.15A>C (p.Gly5=)
| |
16 | g.89919273A>G | CA497380480 | MC1R | c.15A>G (p.Gly5=)
| gnomAD v4 |
16 | g.89919273A>T | CA497380482 | MC1R | c.15A>T (p.Gly5=)
| |
16 | g.89919274T>A | CA397458922 | MC1R | c.16T>A (p.Ser6Thr)
| dbSNP gnomAD v4 |
16 | g.89919274T>C | CA397458927 | MC1R | c.16T>C (p.Ser6Pro)
| gnomAD v4 |
16 | g.89919274T>G | CA397458924 | MC1R | c.16T>G (p.Ser6Ala)
| |
16 | g.89919274T= | CA2242009266 | MC1R | c.16T= (p.Ser6=)
| |
16 | g.89919275C>A | CA397458929 | MC1R | c.17C>A (p.Ser6Tyr)
| |
16 | g.89919275C>G | CA397458934 | MC1R | c.17C>G (p.Ser6Cys)
| |
16 | g.89919275C>T | CA397458931 | MC1R | c.17C>T (p.Ser6Phe)
| |
16 | g.89919276C>A | CA497380483 | MC1R | c.18C>A (p.Ser6=)
| |
16 | g.89919276C= | CA2242009267 | MC1R | c.18C= (p.Ser6=)
| |
16 | g.89919276C>G | CA497380486 | MC1R | c.18C>G (p.Ser6=)
| gnomAD v4 |
16 | g.89919276C>T | CA286607326 | MC1R | c.18C>T (p.Ser6=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919277C>A | CA397458937 | MC1R | c.19C>A (p.Gln7Lys)
| gnomAD v4 |
16 | g.89919277C= | CA2242009268 | MC1R | c.19C= (p.Gln7=)
| |
16 | g.89919277C>G | CA397458938 | MC1R | c.19C>G (p.Gln7Glu)
| |
16 | g.89919277C>T | CA8255459 | MC1R | c.19C>T (p.Gln7Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919278A= | CA2242009269 | MC1R | c.20A= (p.Gln7=)
| |
16 | g.89919278A>C | CA397458942 | MC1R | c.20A>C (p.Gln7Pro)
| |
16 | g.89919278A>G | CA8255460 | MC1R | c.20A>G (p.Gln7Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919278A>T | CA397458946 | MC1R | c.20A>T (p.Gln7Leu)
| |
16 | g.89919279G>A | CA497380487 | MC1R | c.21G>A (p.Gln7=)
| |
16 | g.89919279G>C | CA397458947 | MC1R | c.21G>C (p.Gln7His)
| |
16 | g.89919279G= | CA2242009270 | MC1R | c.21G= (p.Gln7=)
| |
16 | g.89919279G>T | CA397458950 | MC1R | c.21G>T (p.Gln7His)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919280A>C | CA497380491 | MC1R | c.22A>C (p.Arg8=)
| |
16 | g.89919280A>G | CA397458952 | MC1R | c.22A>G (p.Arg8Gly)
| |
16 | g.89919280A>T | CA397458954 | MC1R | c.22A>T (p.Arg8Ter)
| |
16 | g.89919283_89919285del | CA2580613951 | MC1R | c.25_27del (p.Arg9del)
| ClinVar |
16 | g.89919281G>A | CA8255461 | MC1R | c.23G>A (p.Arg8Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919281G>C | CA397458958 | MC1R | c.23G>C (p.Arg8Thr)
| |
16 | g.89919281G= | CA2242009271 | MC1R | c.23G= (p.Arg8=)
| |
16 | g.89919281G>T | CA397458960 | MC1R | c.23G>T (p.Arg8Ile)
| |
16 | g.89919282A>C | CA397458962 | MC1R | c.24A>C (p.Arg8Ser)
| |
16 | g.89919282A>G | CA497380495 | MC1R | c.24A>G (p.Arg8=)
| gnomAD v4 |
16 | g.89919282A>T | CA397458965 | MC1R | c.24A>T (p.Arg8Ser)
| |
16 | g.89919283A>C | CA497380497 | MC1R | c.25A>C (p.Arg9=)
| |
16 | g.89919283A>G | CA397458967 | MC1R | c.25A>G (p.Arg9Gly)
| |
16 | g.89919283A>T | CA397458969 | MC1R | c.25A>T (p.Arg9Ter)
| |
16 | g.89919284G>A | CA397458972 | MC1R | c.26G>A (p.Arg9Lys)
| |
16 | g.89919284G>C | CA397458974 | MC1R | c.26G>C (p.Arg9Thr)
| dbSNP |
16 | g.89919284G= | CA2242009273 | MC1R | c.26G= (p.Arg9=)
| |
16 | g.89919284G>T | CA397458975 | MC1R | c.26G>T (p.Arg9Ile)
| gnomAD v4 |
16 | g.89919284_89919301delinsGACTTCTGGGCTCCCTCA | CA2242009272 | MC1R | c.26_43delinsGACTTCTGGGCTCCCTCA (p.Arg9=)
| |
16 | g.89919285A>C | CA397458978 | MC1R | c.27A>C (p.Arg9Ser)
| |
16 | g.89919285A>G | CA497380500 | MC1R | c.27A>G (p.Arg9=)
| |
16 | g.89919285A>T | CA397458980 | MC1R | c.27A>T (p.Arg9Ser)
| |
16 | g.89919288_89919304del | CA8255462 | MC1R | c.30_46del (p.Leu11HisfsTer26)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919286C>A | CA397458983 | MC1R | c.28C>A (p.Leu10Ile)
| |
16 | g.89919286C>G | CA397458986 | MC1R | c.28C>G (p.Leu10Val)
| |
16 | g.89919286C>T | CA397458987 | MC1R | c.28C>T (p.Leu10Phe)
| gnomAD v4 |
16 | g.89919287T>A | CA397458993 | MC1R | c.29T>A (p.Leu10His)
| |
16 | g.89919287T>C | CA397458990 | MC1R | c.29T>C (p.Leu10Pro)
| gnomAD v4 |
16 | g.89919287T>G | CA397458989 | MC1R | c.29T>G (p.Leu10Arg)
| |
16 | g.89919288T>A | CA497380505 | MC1R | c.30T>A (p.Leu10=)
| |
16 | g.89919288T>C | CA497380507 | MC1R | c.30T>C (p.Leu10=)
| dbSNP |
16 | g.89919288T>G | CA8255463 | MC1R | c.30T>G (p.Leu10=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919288T= | CA2242009274 | MC1R | c.30T= (p.Leu10=)
| |
16 | g.89919289C>A | CA397458995 | MC1R | c.31C>A (p.Leu11Met)
| |
16 | g.89919289C>G | CA397458997 | MC1R | c.31C>G (p.Leu11Val)
| |
16 | g.89919289C>T | CA497380509 | MC1R | c.31C>T (p.Leu11=)
| |
16 | g.89919290T>A | CA397459000 | MC1R | c.32T>A (p.Leu11Gln)
| |
16 | g.89919290T>C | CA397459003 | MC1R | c.32T>C (p.Leu11Pro)
| dbSNP gnomAD v4 |
16 | g.89919290T>G | CA397459004 | MC1R | c.32T>G (p.Leu11Arg)
| |
16 | g.89919290T= | CA2242009275 | MC1R | c.32T= (p.Leu11=)
| |
16 | g.89919291G>A | CA497380517 | MC1R | c.33G>A (p.Leu11=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919291G>C | CA497380518 | MC1R | c.33G>C (p.Leu11=)
| gnomAD v4 |
16 | g.89919291G= | CA2242009276 | MC1R | c.33G= (p.Leu11=)
| |
16 | g.89919291G>T | CA497380520 | MC1R | c.33G>T (p.Leu11=)
| |
16 | g.89919292G>A | CA397459007 | MC1R | c.34G>A (p.Gly12Ser)
| |
16 | g.89919292G>C | CA397459009 | MC1R | c.34G>C (p.Gly12Arg)
| |
16 | g.89919292G>T | CA397459011 | MC1R | c.34G>T (p.Gly12Cys)
| |
16 | g.89919293G>A | CA8255464 | MC1R | c.35G>A (p.Gly12Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919293G>C | CA286607333 | MC1R | c.35G>C (p.Gly12Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919293G= | CA2242009277 | MC1R | c.35G= (p.Gly12=)
| |
16 | g.89919293G>T | CA397459017 | MC1R | c.35G>T (p.Gly12Val)
| |
16 | g.89919294C>A | CA286607336 | MC1R | c.36C>A (p.Gly12=)
| dbSNP gnomAD v4 |
16 | g.89919294C= | CA2242009278 | MC1R | c.36C= (p.Gly12=)
| |
16 | g.89919294C>G | CA497380531 | MC1R | c.36C>G (p.Gly12=)
| |
16 | g.89919294C>T | CA497380532 | MC1R | c.36C>T (p.Gly12=)
| |
16 | g.89919295T>A | CA397459027 | MC1R | c.37T>A (p.Ser13Thr)
| |
16 | g.89919295T>C | CA397459025 | MC1R | c.37T>C (p.Ser13Pro)
| |
16 | g.89919295T>G | CA397459020 | MC1R | c.37T>G (p.Ser13Ala)
| |
16 | g.89919296C>A | CA397459030 | MC1R | c.38C>A (p.Ser13Tyr)
| |
16 | g.89919296C>G | CA397459035 | MC1R | c.38C>G (p.Ser13Cys)
| |
16 | g.89919296C>T | CA397459037 | MC1R | c.38C>T (p.Ser13Phe)
| gnomAD v4 |
16 | g.89919297C>A | CA497380538 | MC1R | c.39C>A (p.Ser13=)
| gnomAD v4 |
16 | g.89919297C= | CA2242009279 | MC1R | c.39C= (p.Ser13=)
| |
16 | g.89919297C>G | CA497380539 | MC1R | c.39C>G (p.Ser13=)
| |
16 | g.89919297C>T | CA497380540 | MC1R | c.39C>T (p.Ser13=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919298C>A | CA397459039 | MC1R | c.40C>A (p.Leu14Ile)
| gnomAD v4 |
16 | g.89919298C= | CA2242009280 | MC1R | c.40C= (p.Leu14=)
| |
16 | g.89919298C>G | CA397459042 | MC1R | c.40C>G (p.Leu14Val)
| |
16 | g.89919298C>T | CA8255465 | MC1R | c.40C>T (p.Leu14Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919299T>A | CA397459045 | MC1R | c.41T>A (p.Leu14His)
| |
16 | g.89919299T>C | CA397459046 | MC1R | c.41T>C (p.Leu14Pro)
| |
16 | g.89919299T>G | CA397459048 | MC1R | c.41T>G (p.Leu14Arg)
| |
16 | g.89919300C>A | CA497380542 | MC1R | c.42C>A (p.Leu14=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919300C= | CA2242009281 | MC1R | c.42C= (p.Leu14=)
| |
16 | g.89919300C>G | CA497380543 | MC1R | c.42C>G (p.Leu14=)
| gnomAD v4 |
16 | g.89919300C>T | CA497380544 | MC1R | c.42C>T (p.Leu14=)
| |
16 | g.89919301A>C | CA397459051 | MC1R | c.43A>C (p.Asn15His)
| |
16 | g.89919301A>G | CA397459053 | MC1R | c.43A>G (p.Asn15Asp)
| |
16 | g.89919301A>T | CA397459056 | MC1R | c.43A>T (p.Asn15Tyr)
| |
16 | g.89919302A= | CA2242009282 | MC1R | c.44A= (p.Asn15=)
| |
16 | g.89919302A>C | CA8255467 | MC1R | c.44A>C (p.Asn15Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919302A>G | CA8255466 | MC1R | c.44A>G (p.Asn15Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919302A>T | CA397459059 | MC1R | c.44A>T (p.Asn15Ile)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919303C>A | CA397459064 | MC1R | c.45C>A (p.Asn15Lys)
| |
16 | g.89919303C= | CA2242009283 | MC1R | c.45C= (p.Asn15=)
| |
16 | g.89919303C>G | CA397459065 | MC1R | c.45C>G (p.Asn15Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919303C>T | CA497380547 | MC1R | c.45C>T (p.Asn15=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919304T>A | CA397459068 | MC1R | c.46T>A (p.Ser16Thr)
| |
16 | g.89919304T>C | CA397459072 | MC1R | c.46T>C (p.Ser16Pro)
| |
16 | g.89919304T>G | CA397459074 | MC1R | c.46T>G (p.Ser16Ala)
| |
16 | g.89919305C>A | CA397459075 | MC1R | c.47C>A (p.Ser16Tyr)
| |
16 | g.89919305C= | CA2242009284 | MC1R | c.47C= (p.Ser16=)
| |
16 | g.89919305C>G | CA397459078 | MC1R | c.47C>G (p.Ser16Cys)
| gnomAD v4 |
16 | g.89919305C>T | CA397459081 | MC1R | c.47C>T (p.Ser16Phe)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919306C>A | CA497380550 | MC1R | c.48C>A (p.Ser16=)
| |
16 | g.89919306C= | CA2242009285 | MC1R | c.48C= (p.Ser16=)
| |
16 | g.89919306C>G | CA497380552 | MC1R | c.48C>G (p.Ser16=)
| |
16 | g.89919306C>T | CA497380554 | MC1R | c.48C>T (p.Ser16=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919307A= | CA2242009286 | MC1R | c.49A= (p.Thr17=)
| |
16 | g.89919307A>C | CA397459083 | MC1R | c.49A>C (p.Thr17Pro)
| dbSNP |
16 | g.89919307A>G | CA397459085 | MC1R | c.49A>G (p.Thr17Ala)
| |
16 | g.89919307A>T | CA397459087 | MC1R | c.49A>T (p.Thr17Ser)
| |
16 | g.89919307_89919308delinsAC | CA2242009287 | MC1R | c.49_50delinsAC (p.Thr17=)
| |
16 | g.89919308C>A | CA8255468 | MC1R | c.50C>A (p.Thr17Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919308C= | CA2242009288 | MC1R | c.50C= (p.Thr17=)
| |
16 | g.89919308C>G | CA397459091 | MC1R | c.50C>G (p.Thr17Ser)
| |
16 | g.89919308C>T | CA397459094 | MC1R | c.50C>T (p.Thr17Ile)
| dbSNP gnomAD v2 |
16 | g.89919312del | CA1139665004 | MC1R | c.54del (p.Thr19GlnfsTer?)
| ClinVar dbSNP |
16 | g.89919309C>A | CA497380560 | MC1R | c.51C>A (p.Thr17=)
| |
16 | g.89919309C= | CA2242009289 | MC1R | c.51C= (p.Thr17=)
| |
16 | g.89919309C>G | CA8255469 | MC1R | c.51C>G (p.Thr17=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919309C>T | CA497380561 | MC1R | c.51C>T (p.Thr17=)
| |
16 | g.89919310C>A | CA397459103 | MC1R | c.52C>A (p.Pro18Thr)
| |
16 | g.89919310C= | CA2242009290 | MC1R | c.52C= (p.Pro18=)
| |
16 | g.89919310C>G | CA8255470 | MC1R | c.52C>G (p.Pro18Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919310C>T | CA397459098 | MC1R | c.52C>T (p.Pro18Ser)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919311C>A | CA397459105 | MC1R | c.53C>A (p.Pro18His)
| gnomAD v4 |
16 | g.89919311C>G | CA397459107 | MC1R | c.53C>G (p.Pro18Arg)
| gnomAD v4 |
16 | g.89919311C>T | CA397459110 | MC1R | c.53C>T (p.Pro18Leu)
| gnomAD v4 |
16 | g.89919312C>A | CA497380568 | MC1R | c.54C>A (p.Pro18=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919312C= | CA2242009291 | MC1R | c.54C= (p.Pro18=)
| |
16 | g.89919312C>G | CA497380569 | MC1R | c.54C>G (p.Pro18=)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919312C>T | CA497380570 | MC1R | c.54C>T (p.Pro18=)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919313A= | CA2242009292 | MC1R | c.55A= (p.Thr19=)
| |
16 | g.89919313A>C | CA397459112 | MC1R | c.55A>C (p.Thr19Pro)
| |
16 | g.89919313A>G | CA397459114 | MC1R | c.55A>G (p.Thr19Ala)
| dbSNP gnomAD v3 gnomAD v4 |
16 | g.89919313A>T | CA397459115 | MC1R | c.55A>T (p.Thr19Ser)
| |
16 | g.89919314C>A | CA397459116 | MC1R | c.56C>A (p.Thr19Lys)
| |
16 | g.89919314C= | CA2242009293 | MC1R | c.56C= (p.Thr19=)
| |
16 | g.89919314C>G | CA397459117 | MC1R | c.56C>G (p.Thr19Arg)
| |
16 | g.89919314C>T | CA8255471 | MC1R | c.56C>T (p.Thr19Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919315A>C | CA497380572 | MC1R | c.57A>C (p.Thr19=)
| |
16 | g.89919315A>G | CA497380573 | MC1R | c.57A>G (p.Thr19=)
| |
16 | g.89919315A>T | CA497380574 | MC1R | c.57A>T (p.Thr19=)
| |
16 | g.89919316G>A | CA397459118 | MC1R | c.58G>A (p.Ala20Thr)
| |
16 | g.89919316G>C | CA397459119 | MC1R | c.58G>C (p.Ala20Pro)
| |
16 | g.89919316G>T | CA397459120 | MC1R | c.58G>T (p.Ala20Ser)
| |
16 | g.89919317C>A | CA397459124 | MC1R | c.59C>A (p.Ala20Asp)
| |
16 | g.89919317C= | CA2242009294 | MC1R | c.59C= (p.Ala20=)
| |
16 | g.89919317C>G | CA8255472 | MC1R | c.59C>G (p.Ala20Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.89919317C>T | CA397459122 | MC1R | c.59C>T (p.Ala20Val)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919318C>A | CA497380580 | MC1R | c.60C>A (p.Ala20=)
| |
16 | g.89919318C>G | CA497380581 | MC1R | c.60C>G (p.Ala20=)
| |
16 | g.89919318C>T | CA497380582 | MC1R | c.60C>T (p.Ala20=)
| |
16 | g.89919319A>C | CA397459135 | MC1R | c.61A>C (p.Ile21Leu)
| |
16 | g.89919319A>G | CA397459128 | MC1R | c.61A>G (p.Ile21Val)
| dbSNP gnomAD v4 |
16 | g.89919319A>T | CA397459133 | MC1R | c.61A>T (p.Ile21Phe)
| |
16 | g.89919320del | CA2576103978 | MC1R | c.62del (p.Ile21ThrfsTer?)
| |
16 | g.89919320T>A | CA397459137 | MC1R | c.62T>A (p.Ile21Asn)
| |
16 | g.89919320T>C | CA397459139 | MC1R | c.62T>C (p.Ile21Thr)
| |
16 | g.89919320T>G | CA397459140 | MC1R | c.62T>G (p.Ile21Ser)
| |
16 | g.89919321C>A | CA497380584 | MC1R | c.63C>A (p.Ile21=)
| |
16 | g.89919321C>G | CA397459142 | MC1R | c.63C>G (p.Ile21Met)
| |
16 | g.89919321C>T | CA497380586 | MC1R | c.63C>T (p.Ile21=)
| ClinVar dbSNP |
16 | g.89919322C>A | CA397459145 | MC1R | c.64C>A (p.Pro22Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919322C= | CA2242009295 | MC1R | c.64C= (p.Pro22=)
| |
16 | g.89919322C>G | CA397459148 | MC1R | c.64C>G (p.Pro22Ala)
| |
16 | g.89919322C>T | CA397459149 | MC1R | c.64C>T (p.Pro22Ser)
| |
16 | g.89919323C>A | CA397459151 | MC1R | c.65C>A (p.Pro22His)
| |
16 | g.89919323C= | CA2242009297 | MC1R | c.65C= (p.Pro22=)
| |
16 | g.89919323C>G | CA397459153 | MC1R | c.65C>G (p.Pro22Arg)
| |
16 | g.89919323C>T | CA397459155 | MC1R | c.65C>T (p.Pro22Leu)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919323_89919344delinsCCCAGCTGGGGCTGGCTGCCAA | CA2242009296 | MC1R | c.65_86delinsCCCAGCTGGGGCTGGCTGCCAA (p.Pro22=)
| |
16 | g.89919324C>A | CA497380595 | MC1R | c.66C>A (p.Pro22=)
| |
16 | g.89919324C= | CA2242009298 | MC1R | c.66C= (p.Pro22=)
| |
16 | g.89919324C>G | CA497380599 | MC1R | c.66C>G (p.Pro22=)
| |
16 | g.89919324C>T | CA8255473 | MC1R | c.66C>T (p.Pro22=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919328_89919348del | CA624455298 | MC1R | c.70_90del (p.Leu24_Gln30del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919325C>A | CA397459160 | MC1R | c.67C>A (p.Gln23Lys)
| |
16 | g.89919325C= | CA2242009299 | MC1R | c.67C= (p.Gln23=)
| |
16 | g.89919325C>G | CA397459159 | MC1R | c.67C>G (p.Gln23Glu)
| |
16 | g.89919325C>T | CA8255474 | MC1R | c.67C>T (p.Gln23Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.89919326_89919328del | CA2635064789 | MC1R | c.68_70del (p.Gln23del)
| gnomAD v4 |
16 | g.89919326A= | CA2242009300 | MC1R | c.68A= (p.Gln23=)
| |
16 | g.89919326A>C | CA397459163 | MC1R | c.68A>C (p.Gln23Pro)
| dbSNP gnomAD v2 gnomAD v4 |
16 | g.89919326A>G | CA397459165 | MC1R | c.68A>G (p.Gln23Arg)
| |
16 | g.89919326A>T | CA397459169 | MC1R | c.68A>T (p.Gln23Leu)
| |
16 | g.89919327G>A | CA497380604 | MC1R | c.69G>A (p.Gln23=)
| gnomAD v3 gnomAD v4 |
16 | g.89919327G>C | CA397459170 | MC1R | c.69G>C (p.Gln23His)
| gnomAD v4 |
16 | g.89919327G>T | CA397459173 | MC1R | c.69G>T (p.Gln23His)
| gnomAD v4 |