21 | g.45984443G>A | CA513169172 | COL6A1 | c.402G>A (p.Lys134=)
| |
21 | g.45984443G>C | CA410516347 | COL6A1 | c.402G>C (p.Lys134Asn)
| ClinVar |
21 | g.45984443G>T | CA410516348 | COL6A1 | c.402G>T (p.Lys134Asn)
| |
21 | g.45984444A= | CA2392430095 | COL6A1 | c.403A= (p.Lys135=)
| |
21 | g.45984444A>C | CA10069554 | COL6A1 | c.403A>C (p.Lys135Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984444A>G | CA410516351 | COL6A1 | c.403A>G (p.Lys135Glu)
| |
21 | g.45984444A>T | CA410516350 | COL6A1 | c.403A>T (p.Lys135Ter)
| |
21 | g.45984445A>C | CA410516352 | COL6A1 | c.404A>C (p.Lys135Thr)
| |
21 | g.45984445A>G | CA410516354 | COL6A1 | c.404A>G (p.Lys135Arg)
| |
21 | g.45984445A>T | CA410516355 | COL6A1 | c.404A>T (p.Lys135Met)
| |
21 | g.45984446G>A | CA10069555 | COL6A1 | c.405G>A (p.Lys135=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984446G>C | CA410516358 | COL6A1 | c.405G>C (p.Lys135Asn)
| |
21 | g.45984446G= | CA2392430096 | COL6A1 | c.405G= (p.Lys135=)
| |
21 | g.45984446G>T | CA410516363 | COL6A1 | c.405G>T (p.Lys135Asn)
| COSMIC |
21 | g.45984447G>A | CA410516366 | COL6A1 | c.406G>A (p.Gly136Arg)
| |
21 | g.45984447G>C | CA410516368 | COL6A1 | c.406G>C (p.Gly136Arg)
| |
21 | g.45984447G>T | CA410516371 | COL6A1 | c.406G>T (p.Gly136Trp)
| gnomAD v4 |
21 | g.45984448G>A | CA410516372 | COL6A1 | c.407G>A (p.Gly136Glu)
| |
21 | g.45984448G>C | CA410516374 | COL6A1 | c.407G>C (p.Gly136Ala)
| |
21 | g.45984448G>T | CA410516375 | COL6A1 | c.407G>T (p.Gly136Val)
| gnomAD v4 |
21 | g.45984449G>A | CA513169177 | COL6A1 | c.408G>A (p.Gly136=)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984449G>C | CA513169179 | COL6A1 | c.408G>C (p.Gly136=)
| gnomAD v4 |
21 | g.45984449G= | CA2392430097 | COL6A1 | c.408G= (p.Gly136=)
| |
21 | g.45984449G>T | CA513169181 | COL6A1 | c.408G>T (p.Gly136=)
| gnomAD v4 |
21 | g.45984450C>A | CA410516377 | COL6A1 | c.409C>A (p.Leu137Met)
| |
21 | g.45984450C= | CA2392430098 | COL6A1 | c.409C= (p.Leu137=)
| |
21 | g.45984450C>G | CA10069556 | COL6A1 | c.409C>G (p.Leu137Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984450C>T | CA513169183 | COL6A1 | c.409C>T (p.Leu137=)
| |
21 | g.45984451T>A | CA410516382 | COL6A1 | c.410T>A (p.Leu137Gln)
| |
21 | g.45984451T>C | CA410516381 | COL6A1 | c.410T>C (p.Leu137Pro)
| |
21 | g.45984451T>G | CA410516380 | COL6A1 | c.410T>G (p.Leu137Arg)
| |
21 | g.45984452G>A | CA10069557 | COL6A1 | c.411G>A (p.Leu137=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984452G>C | CA513169187 | COL6A1 | c.411G>C (p.Leu137=)
| |
21 | g.45984452G= | CA2392430099 | COL6A1 | c.411G= (p.Leu137=)
| |
21 | g.45984452G>T | CA513169189 | COL6A1 | c.411G>T (p.Leu137=)
| |
21 | g.45984453del | CA2842784433 | COL6A1 | c.412del (p.Glu138SerfsTer10)
| |
21 | g.45984453G>A | CA410516386 | COL6A1 | c.412G>A (p.Glu138Lys)
| |
21 | g.45984453G>C | CA410516387 | COL6A1 | c.412G>C (p.Glu138Gln)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984453G= | CA2392430101 | COL6A1 | c.412G= (p.Glu138=)
| |
21 | g.45984453G>T | CA410516389 | COL6A1 | c.412G>T (p.Glu138Ter)
| gnomAD v4 |
21 | g.45984453_45984456delinsGAGC | CA2392430100 | COL6A1 | c.412_415delinsGAGC (p.Glu138=)
| |
21 | g.45984454A>C | CA410516391 | COL6A1 | c.413A>C (p.Glu138Ala)
| |
21 | g.45984454A>G | CA410516393 | COL6A1 | c.413A>G (p.Glu138Gly)
| |
21 | g.45984454A>T | CA410516395 | COL6A1 | c.413A>T (p.Glu138Val)
| |
21 | g.45984457_45984459del | CA2392430102 | COL6A1 | c.416_418del (p.Gln139del)
| dbSNP |
21 | g.45984455G>A | CA513169197 | COL6A1 | c.414G>A (p.Glu138=)
| ClinVar dbSNP |
21 | g.45984455G>C | CA410516397 | COL6A1 | c.414G>C (p.Glu138Asp)
| |
21 | g.45984455G= | CA2392430103 | COL6A1 | c.414G= (p.Glu138=)
| |
21 | g.45984455G>T | CA410516398 | COL6A1 | c.414G>T (p.Glu138Asp)
| |
21 | g.45984456C>A | CA410516401 | COL6A1 | c.415C>A (p.Gln139Lys)
| |
21 | g.45984456C>G | CA410516403 | COL6A1 | c.415C>G (p.Gln139Glu)
| |
21 | g.45984456C>T | CA410516404 | COL6A1 | c.415C>T (p.Gln139Ter)
| gnomAD v4 |
21 | g.45984457A>C | CA410516410 | COL6A1 | c.416A>C (p.Gln139Pro)
| |
21 | g.45984457A>G | CA410516408 | COL6A1 | c.416A>G (p.Gln139Arg)
| |
21 | g.45984457A>T | CA410516406 | COL6A1 | c.416A>T (p.Gln139Leu)
| |
21 | g.45984458G>A | CA10069558 | COL6A1 | c.417G>A (p.Gln139=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984458G>C | CA410516414 | COL6A1 | c.417G>C (p.Gln139His)
| |
21 | g.45984458G= | CA2392430104 | COL6A1 | c.417G= (p.Gln139=)
| |
21 | g.45984458G>T | CA410516415 | COL6A1 | c.417G>T (p.Gln139His)
| gnomAD v4 |
21 | g.45984459C>A | CA410516418 | COL6A1 | c.418C>A (p.Leu140Ile)
| |
21 | g.45984459C= | CA2392430105 | COL6A1 | c.418C= (p.Leu140=)
| |
21 | g.45984459C>G | CA410516420 | COL6A1 | c.418C>G (p.Leu140Val)
| |
21 | g.45984459C>T | CA10069559 | COL6A1 | c.418C>T (p.Leu140Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984460T>A | CA410516423 | COL6A1 | c.419T>A (p.Leu140His)
| |
21 | g.45984460T>C | CA410516424 | COL6A1 | c.419T>C (p.Leu140Pro)
| |
21 | g.45984460T>G | CA410516426 | COL6A1 | c.419T>G (p.Leu140Arg)
| |
21 | g.45984461C>A | CA513169204 | COL6A1 | c.420C>A (p.Leu140=)
| gnomAD v4 |
21 | g.45984461C= | CA2392430106 | COL6A1 | c.420C= (p.Leu140=)
| |
21 | g.45984461C>G | CA513169205 | COL6A1 | c.420C>G (p.Leu140=)
| |
21 | g.45984461C>T | CA10069560 | COL6A1 | c.420C>T (p.Leu140=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
21 | g.45984462C>A | CA410516430 | COL6A1 | c.421C>A (p.Leu141Ile)
| gnomAD v4 |
21 | g.45984462C>G | CA410516432 | COL6A1 | c.421C>G (p.Leu141Val)
| |
21 | g.45984462C>T | CA410516433 | COL6A1 | c.421C>T (p.Leu141Phe)
| gnomAD v4 |
21 | g.45984463T>A | CA410516438 | COL6A1 | c.422T>A (p.Leu141His)
| |
21 | g.45984463T>C | CA410516439 | COL6A1 | c.422T>C (p.Leu141Pro)
| |
21 | g.45984463T>G | CA410516436 | COL6A1 | c.422T>G (p.Leu141Arg)
| |
21 | g.45984463dup | CA2838803656 | COL6A1 | c.422dup (p.Val142ArgfsTer10)
| |
21 | g.45984464C>A | CA513169215 | COL6A1 | c.423C>A (p.Leu141=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984464C= | CA2392430107 | COL6A1 | c.423C= (p.Leu141=)
| |
21 | g.45984464C>G | CA513169216 | COL6A1 | c.423C>G (p.Leu141=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984464C>T | CA10069561 | COL6A1 | c.423C>T (p.Leu141=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984465G>A | CA321954926 | COL6A1 | c.424G>A (p.Val142Met)
| ClinVar dbSNP gnomAD v4 |
21 | g.45984465G>C | CA10069562 | COL6A1 | c.424G>C (p.Val142Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984465G= | CA2392430108 | COL6A1 | c.424G= (p.Val142=)
| |
21 | g.45984465G>T | CA410516444 | COL6A1 | c.424G>T (p.Val142Leu)
| gnomAD v4 |
21 | g.45984466T>A | CA410516447 | COL6A1 | c.425T>A (p.Val142Glu)
| |
21 | g.45984466T>C | CA410516449 | COL6A1 | c.425T>C (p.Val142Ala)
| |
21 | g.45984466T>G | CA410516451 | COL6A1 | c.425T>G (p.Val142Gly)
| |
21 | g.45984466_45984467delinsTG | CA2392430109 | COL6A1 | c.425_426delinsTG (p.Val142=)
| |
21 | g.45984467G>A | CA513169221 | COL6A1 | c.426G>A (p.Val142=)
| gnomAD v4 |
21 | g.45984467G>C | CA513169222 | COL6A1 | c.426G>C (p.Val142=)
| gnomAD v4 |
21 | g.45984467G= | CA2392430110 | COL6A1 | c.426G= (p.Val142=)
| |
21 | g.45984467G>T | CA513169225 | COL6A1 | c.426G>T (p.Val142=)
| dbSNP gnomAD v4 |
21 | g.45984470del | CA10069563 | COL6A1 | c.428+1del
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984468G>A | CA10069564 | COL6A1 | c.427G>A (p.Gly143Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984468G>C | CA410516455 | COL6A1 | c.427G>C (p.Gly143Arg)
| gnomAD v4 |
21 | g.45984468G= | CA2392430111 | COL6A1 | c.427G= (p.Gly143=)
| |
21 | g.45984468G>T | CA410516457 | COL6A1 | c.427G>T (p.Gly143Trp)
| gnomAD v4 |
21 | g.45984469G>A | CA410516458 | COL6A1 | c.428G>A (p.Gly143Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984469G>C | CA410516465 | COL6A1 | c.428G>C (p.Gly143Ala)
| |
21 | g.45984469G= | CA2392430112 | COL6A1 | c.428G= (p.Gly143=)
| |
21 | g.45984469G>T | CA410516467 | COL6A1 | c.428G>T (p.Gly143Val)
| gnomAD v4 |
21 | g.45984470G>A | CA410516473 | COL6A1 | c.428+1G>A (n.428+1G>A)
| ClinVar dbSNP |
21 | g.45984470G>C | CA410516469 | COL6A1 | c.428+1G>C (n.428+1G>C)
| |
21 | g.45984470G= | CA2392430113 | COL6A1 | c.428+1G= (n.428+1G=)
| |
21 | g.45984470G>T | CA410516471 | COL6A1 | c.428+1G>T (n.428+1G>T)
| |
21 | g.45984470_45984471insGGCTCCCACC | CA513169237 | COL6A1 | c.428+1_428+2insGGCTCCCACC (n.428+1_428+2insGGCTCCCACC)
| |
21 | g.45984471T>A | CA410516476 | COL6A1 | c.428+2T>A (n.428+2T>A)
| |
21 | g.45984471T>C | CA410516477 | COL6A1 | c.428+2T>C (n.428+2T>C)
| |
21 | g.45984471T>G | CA410516479 | COL6A1 | c.428+2T>G (n.428+2T>G)
| dbSNP |
21 | g.45984471T= | CA2392430114 | COL6A1 | c.428+2T= (n.428+2T=)
| |
21 | g.45984472G>T | CA2654956334 | COL6A1 | c.428+3G>T (n.428+3G>T)
| gnomAD v4 |
21 | g.45984473A= | CA2392430115 | COL6A1 | c.428+4A= (n.428+4A=)
| |
21 | g.45984473A>G | CA10069565 | COL6A1 | c.428+4A>G (n.428+4A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984474G>A | CA915952719 | COL6A1 | c.428+5G>A (n.428+5G>A)
| ClinVar dbSNP |
21 | g.45984474G= | CA2392430116 | COL6A1 | c.428+5G= (n.428+5G=)
| |
21 | g.45984474G>T | CA2654956337 | COL6A1 | c.428+5G>T (n.428+5G>T)
| gnomAD v4 |
21 | g.45984475_45984491delinsTGGCCCCCAGCCTCCTG | CA2392430117 | COL6A1 | c.428+6_428+22delinsTGGCCCCCAGCCTCCTG (n.428+6_428+22delinsTGGCCCCCAGCCTCCTG)
| |
21 | g.45984476G>A | CA2818096525 | COL6A1 | c.428+7G>A (n.428+7G>A)
| |
21 | g.45984476G>T | CA2654956338 | COL6A1 | c.428+7G>T (n.428+7G>T)
| gnomAD v4 |
21 | g.45984476_45984491del | CA2392430118 | COL6A1 | c.428+7_428+22del (n.428+7_428+22del)
| dbSNP |
21 | g.45984477G>A | CA2654956339 | COL6A1 | c.428+8G>A (n.428+8G>A)
| gnomAD v4 |
21 | g.45984477G>T | CA2654956340 | COL6A1 | c.428+8G>T (n.428+8G>T)
| gnomAD v4 |
21 | g.45984478C>A | CA10069566 | COL6A1 | c.428+9C>A (n.428+9C>A)
| dbSNP ExAC gnomAD v2 |
21 | g.45984478C= | CA2392430119 | COL6A1 | c.428+9C= (n.428+9C=)
| |
21 | g.45984478C>T | CA2392430120 | COL6A1 | c.428+9C>T (n.428+9C>T)
| dbSNP gnomAD v4 |
21 | g.45984482del | CA2577628305 | COL6A1 | c.428+13del (n.428+13del)
| gnomAD v4 |
21 | g.45984479C>A | CA2654956342 | COL6A1 | c.428+10C>A (n.428+10C>A)
| gnomAD v4 |
21 | g.45984479C= | CA2392430121 | COL6A1 | c.428+10C= (n.428+10C=)
| |
21 | g.45984479C>T | CA638497666 | COL6A1 | c.428+10C>T (n.428+10C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984480C= | CA2392430122 | COL6A1 | c.428+11C= (n.428+11C=)
| |
21 | g.45984480C>T | CA638497667 | COL6A1 | c.428+11C>T (n.428+11C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984482C>A | CA2577628306 | COL6A1 | c.428+13C>A (n.428+13C>A)
| |
21 | g.45984482C= | CA2392430123 | COL6A1 | c.428+13C= (n.428+13C=)
| |
21 | g.45984482C>G | CA2654956345 | COL6A1 | c.428+13C>G (n.428+13C>G)
| gnomAD v4 |
21 | g.45984482C>T | CA10069567 | COL6A1 | c.428+13C>T (n.428+13C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
21 | g.45984483A= | CA2392430124 | COL6A1 | c.428+14A= (n.428+14A=)
| |
21 | g.45984483A>C | CA2392430125 | COL6A1 | c.428+14A>C (n.428+14A>C)
| dbSNP |
21 | g.45984483A>G | CA147406 | COL6A1 | c.428+14A>G (n.428+14A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984483A>T | CA2392430126 | COL6A1 | c.428+14A>T (n.428+14A>T)
| dbSNP gnomAD v4 |
21 | g.45984483_45984484delinsGA | CA2580098905 | COL6A1 | c.428+14_428+15delinsGA (n.428+14_428+15delinsGA)
| ClinVar |
21 | g.45984484del | CA2654956351 | COL6A1 | c.428+15del (n.428+15del)
| gnomAD v4 |
21 | g.45984484G>A | CA321954936 | COL6A1 | c.428+15G>A (n.428+15G>A)
| dbSNP gnomAD v4 |
21 | g.45984484G= | CA2392430127 | COL6A1 | c.428+15G= (n.428+15G=)
| |
21 | g.45984484_45984486del | CA2654956352 | COL6A1 | c.428+15_428+17del (n.428+15_428+17del)
| gnomAD v4 |
21 | g.45984485C>A | CA2654956353 | COL6A1 | c.428+16C>A (n.428+16C>A)
| gnomAD v4 |
21 | g.45984486C>G | CA2842784434 | COL6A1 | c.428+17C>G (n.428+17C>G)
| |
21 | g.45984486C>T | CA2654956354 | COL6A1 | c.428+17C>T (n.428+17C>T)
| gnomAD v4 |
21 | g.45984488C>A | CA2654956355 | COL6A1 | c.428+19C>A (n.428+19C>A)
| gnomAD v4 |
21 | g.45984488C= | CA2392430128 | COL6A1 | c.428+19C= (n.428+19C=)
| |
21 | g.45984488C>G | CA638497668 | COL6A1 | c.428+19C>G (n.428+19C>G)
| dbSNP gnomAD v2 |
21 | g.45984489C>A | CA2654956356 | COL6A1 | c.428+20C>A (n.428+20C>A)
| gnomAD v4 |
21 | g.45984489C= | CA2392430129 | COL6A1 | c.428+20C= (n.428+20C=)
| |
21 | g.45984489C>T | CA638497669 | COL6A1 | c.428+20C>T (n.428+20C>T)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984491G>A | CA638497670 | COL6A1 | c.428+22G>A (n.428+22G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984491G= | CA2392430130 | COL6A1 | c.428+22G= (n.428+22G=)
| |
21 | g.45984492C>A | CA2392430132 | COL6A1 | c.428+23C>A (n.428+23C>A)
| dbSNP gnomAD v4 |
21 | g.45984492C= | CA2392430131 | COL6A1 | c.428+23C= (n.428+23C=)
| |
21 | g.45984492C>T | CA10069568 | COL6A1 | c.428+23C>T (n.428+23C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984494del | CA2654956357 | COL6A1 | c.428+25del (n.428+25del)
| gnomAD v4 |
21 | g.45984493C>A | CA2654956358 | COL6A1 | c.428+24C>A (n.428+24C>A)
| gnomAD v4 |
21 | g.45984494C>A | CA2654956359 | COL6A1 | c.428+25C>A (n.428+25C>A)
| gnomAD v4 |
21 | g.45984494C= | CA2392430133 | COL6A1 | c.428+25C= (n.428+25C=)
| |
21 | g.45984494C>T | CA321954940 | COL6A1 | c.428+25C>T (n.428+25C>T)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984499_45984510del | CA2654956360 | COL6A1 | c.428+30_428+41del (n.428+30_428+41del)
| gnomAD v4 |
21 | g.45984495_45984497delinsACG | CA2392430134 | COL6A1 | c.428+26_428+28delinsACG (n.428+26_428+28delinsACG)
| |
21 | g.45984496C>A | CA638497671 | COL6A1 | c.428+27C>A (n.428+27C>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984496C= | CA2392430136 | COL6A1 | c.428+27C= (n.428+27C=)
| |
21 | g.45984496C>T | CA321954941 | COL6A1 | c.428+27C>T (n.428+27C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984497_45984498del | CA2392430135 | COL6A1 | c.428+28_428+29del (n.428+28_428+29del)
| dbSNP |
21 | g.45984497G>A | CA10069569 | COL6A1 | c.428+28G>A (n.428+28G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984497G= | CA2392430137 | COL6A1 | c.428+28G= (n.428+28G=)
| |
21 | g.45984497G>T | CA749824609 | COL6A1 | c.428+28G>T (n.428+28G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984498C>A | CA2654956361 | COL6A1 | c.428+29C>A (n.428+29C>A)
| gnomAD v4 |
21 | g.45984498C= | CA2392430138 | COL6A1 | c.428+29C= (n.428+29C=)
| |
21 | g.45984498C>G | CA638497672 | COL6A1 | c.428+29C>G (n.428+29C>G)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984498_45984499insGTGAGAACTGGCGTGGG | CA2654956362 | COL6A1 | c.428+29_428+30insGTGAGAACTGGCGTGGG (n.428+29_428+30insGTGAGAACTGGCGTGGG)
| gnomAD v4 |
21 | g.45984499C>A | CA2654956363 | COL6A1 | c.428+30C>A (n.428+30C>A)
| gnomAD v4 |
21 | g.45984500A>T | CA2654956364 | COL6A1 | c.428+31A>T (n.428+31A>T)
| gnomAD v4 |
21 | g.45984501G>A | CA10069570 | COL6A1 | c.428+32G>A (n.428+32G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984501G>C | CA10069571 | COL6A1 | c.428+32G>C (n.428+32G>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984501G= | CA2392430139 | COL6A1 | c.428+32G= (n.428+32G=)
| |
21 | g.45984502T>A | CA2818096530 | COL6A1 | c.428+33T>A (n.428+33T>A)
| |
21 | g.45984502T>C | CA10069572 | COL6A1 | c.428+33T>C (n.428+33T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45984502T>G | CA2818096531 | COL6A1 | c.428+33T>G (n.428+33T>G)
| |
21 | g.45984502T= | CA2392430140 | COL6A1 | c.428+33T= (n.428+33T=)
| |
21 | g.45984503T>G | CA638497673 | COL6A1 | c.428+34T>G (n.428+34T>G)
| dbSNP gnomAD v2 |
21 | g.45984503T= | CA2392430141 | COL6A1 | c.428+34T= (n.428+34T=)
| |
21 | g.45984504C>A | CA2392430143 | COL6A1 | c.428+35C>A (n.428+35C>A)
| dbSNP gnomAD v4 |
21 | g.45984504C= | CA2392430142 | COL6A1 | c.428+35C= (n.428+35C=)
| |
21 | g.45984504C>T | CA2654956366 | COL6A1 | c.428+35C>T (n.428+35C>T)
| gnomAD v4 |
21 | g.45984506C>A | CA2654956367 | COL6A1 | c.428+37C>A (n.428+37C>A)
| gnomAD v4 |
21 | g.45984506C= | CA2392430144 | COL6A1 | c.428+37C= (n.428+37C=)
| |
21 | g.45984506C>G | CA2654956368 | COL6A1 | c.428+37C>G (n.428+37C>G)
| gnomAD v4 |
21 | g.45984506C>T | CA2392430145 | COL6A1 | c.428+37C>T (n.428+37C>T)
| dbSNP gnomAD v4 |
21 | g.45984507A= | CA2392430146 | COL6A1 | c.428+38A= (n.428+38A=)
| |
21 | g.45984507A>C | CA2654956370 | COL6A1 | c.428+38A>C (n.428+38A>C)
| gnomAD v4 |
21 | g.45984507A>G | CA10069573 | COL6A1 | c.428+38A>G (n.428+38A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984508C>A | CA2654956372 | COL6A1 | c.428+39C>A (n.428+39C>A)
| gnomAD v4 |
21 | g.45984508C= | CA2392430147 | COL6A1 | c.428+39C= (n.428+39C=)
| |
21 | g.45984508C>G | CA147407 | COL6A1 | c.428+39C>G (n.428+39C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984508C>T | CA10069574 | COL6A1 | c.428+39C>T (n.428+39C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984509G>A | CA147408 | COL6A1 | c.428+40G>A (n.428+40G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984509G>C | CA2580653068 | COL6A1 | c.428+40G>C (n.428+40G>C)
| |
21 | g.45984509G= | CA2392430148 | COL6A1 | c.428+40G= (n.428+40G=)
| |
21 | g.45984509G>T | CA2580653067 | COL6A1 | c.428+40G>T (n.428+40G>T)
| |
21 | g.45984510C>A | CA2510703239 | COL6A1 | c.428+41C>A (n.428+41C>A)
| gnomAD v4 |
21 | g.45984510C= | CA2392430149 | COL6A1 | c.428+41C= (n.428+41C=)
| |
21 | g.45984510C>T | CA10069575 | COL6A1 | c.428+41C>T (n.428+41C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.45984511G>A | CA10069576 | COL6A1 | c.428+42G>A (n.428+42G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984511G= | CA2392430150 | COL6A1 | c.428+42G= (n.428+42G=)
| |
21 | g.45984511G>T | CA2654956377 | COL6A1 | c.428+42G>T (n.428+42G>T)
| gnomAD v4 |
21 | g.45984512T>C | CA1022876480 | COL6A1 | c.428+43T>C (n.428+43T>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984512T= | CA2392430151 | COL6A1 | c.428+43T= (n.428+43T=)
| |
21 | g.45984513G>A | CA321954952 | COL6A1 | c.428+44G>A (n.428+44G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984513G= | CA2392430152 | COL6A1 | c.428+44G= (n.428+44G=)
| |
21 | g.45984513G>T | CA2654956378 | COL6A1 | c.428+44G>T (n.428+44G>T)
| gnomAD v4 |
21 | g.45984514G>A | CA10069577 | COL6A1 | c.428+45G>A (n.428+45G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45984514G= | CA2392430153 | COL6A1 | c.428+45G= (n.428+45G=)
| |
21 | g.45984514G>T | CA2654956379 | COL6A1 | c.428+45G>T (n.428+45G>T)
| gnomAD v4 |
21 | g.45984515T>A | CA2654956380 | COL6A1 | c.428+46T>A (n.428+46T>A)
| gnomAD v4 |
21 | g.45984515T>G | CA2654956381 | COL6A1 | c.428+46T>G (n.428+46T>G)
| gnomAD v4 |
21 | g.45984517C>A | CA638497674 | COL6A1 | c.428+48C>A (n.428+48C>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984517C= | CA2392430154 | COL6A1 | c.428+48C= (n.428+48C=)
| |
21 | g.45984518C>A | CA2577628307 | COL6A1 | c.428+49C>A (n.428+49C>A)
| gnomAD v4 |
21 | g.45984518C>G | CA2577628308 | COL6A1 | c.428+49C>G (n.428+49C>G)
| gnomAD v4 |
21 | g.45984519C>A | CA2654956383 | COL6A1 | c.428+50C>A (n.428+50C>A)
| gnomAD v4 |
21 | g.45984519C>T | CA2654956384 | COL6A1 | c.428+50C>T (n.428+50C>T)
| gnomAD v4 |
21 | g.45984519_45984521delinsCAG | CA2392430155 | COL6A1 | c.428+50_428+52delinsCAG (n.428+50_428+52delinsCAG)
| |
21 | g.45984520A>G | CA2577628309 | COL6A1 | c.428+51A>G (n.428+51A>G)
| gnomAD v4 |
21 | g.45984520_45984521del | CA638497675 | COL6A1 | c.428+51_428+52del (n.428+51_428+52del)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984520_45984536delinsAGCCTGGGCTGGGGTTG | CA2392430156 | COL6A1 | c.428+51_428+67delinsAGCCTGGGCTGGGGTTG (n.428+51_428+67delinsAGCCTGGGCTGGGGTTG)
| |
21 | g.45984521G>A | CA2392430158 | COL6A1 | c.428+52G>A (n.428+52G>A)
| dbSNP gnomAD v4 |
21 | g.45984521G= | CA2392430157 | COL6A1 | c.428+52G= (n.428+52G=)
| |
21 | g.45984528_45984543del | CA638497676 | COL6A1 | c.428+59_428+74del (n.428+59_428+74del)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45984522C>A | CA2654956386 | COL6A1 | c.428+53C>A (n.428+53C>A)
| gnomAD v4 |
21 | g.45984522C>T | CA2654956387 | COL6A1 | c.428+53C>T (n.428+53C>T)
| gnomAD v4 |
21 | g.45984523C>G | CA2654956388 | COL6A1 | c.428+54C>G (n.428+54C>G)
| gnomAD v4 |
21 | g.45984524T>C | CA2577628310 | COL6A1 | c.428+55T>C (n.428+55T>C)
| gnomAD v4 |
21 | g.45984525G>A | CA2577628311 | COL6A1 | c.428+56G>A (n.428+56G>A)
| gnomAD v4 |
21 | g.45984525G>C | CA2654956391 | COL6A1 | c.428+56G>C (n.428+56G>C)
| gnomAD v4 |
21 | g.45984525G>T | CA2654956389 | COL6A1 | c.428+56G>T (n.428+56G>T)
| gnomAD v4 |
21 | g.45984526G>A | CA2654956392 | COL6A1 | c.428+57G>A (n.428+57G>A)
| gnomAD v4 |
21 | g.45984526G>T | CA2838221165 | COL6A1 | c.428+57G>T (n.428+57G>T)
| |
21 | g.45984527G>T | CA2654956394 | COL6A1 | c.428+58G>T (n.428+58G>T)
| gnomAD v4 |
21 | g.45984528C>A | CA2654956396 | COL6A1 | c.428+59C>A (n.428+59C>A)
| gnomAD v4 |
21 | g.45984535_45984545dup | CA2654956395 | COL6A1 | c.428+66_428+76dup (n.428+66_428+76dup)
| gnomAD v4 |
21 | g.45984529T>A | CA638497677 | COL6A1 | c.428+60T>A (n.428+60T>A)
| dbSNP gnomAD v2 |
21 | g.45984529T= | CA2392430159 | COL6A1 | c.428+60T= (n.428+60T=)
| |
21 | g.45984530G= | CA2392430160 | COL6A1 | c.428+61G= (n.428+61G=)
| |
21 | g.45984530G>T | CA749824656 | COL6A1 | c.428+61G>T (n.428+61G>T)
| dbSNP |
21 | g.45984533del | CA2654956399 | COL6A1 | c.428+64del (n.428+64del)
| gnomAD v4 |
21 | g.45984533_45984544del | CA2842784435 | COL6A1 | c.428+64_428+75del (n.428+64_428+75del)
| |
21 | g.45984531G>A | CA321954955 | COL6A1 | c.428+62G>A (n.428+62G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984531G>C | CA321954957 | COL6A1 | c.428+62G>C (n.428+62G>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984531G= | CA2392430161 | COL6A1 | c.428+62G= (n.428+62G=)
| |
21 | g.45984531G>T | CA2839331093 | COL6A1 | c.428+62G>T (n.428+62G>T)
| |
21 | g.45984532G>A | CA321954959 | COL6A1 | c.428+63G>A (n.428+63G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984532G>C | CA2392430162 | COL6A1 | c.428+63G>C (n.428+63G>C)
| dbSNP |
21 | g.45984532G= | CA2392430163 | COL6A1 | c.428+63G= (n.428+63G=)
| |
21 | g.45984533G= | CA2392430164 | COL6A1 | c.428+64G= (n.428+64G=)
| |
21 | g.45984533G>T | CA2392430165 | COL6A1 | c.428+64G>T (n.428+64G>T)
| dbSNP gnomAD v4 |
21 | g.45984537G>A | CA2654956404 | COL6A1 | c.428+68G>A (n.428+68G>A)
| gnomAD v4 |
21 | g.45984537G>T | CA2654956405 | COL6A1 | c.428+68G>T (n.428+68G>T)
| gnomAD v4 |
21 | g.45984538C>A | CA2654956409 | COL6A1 | c.428+69C>A (n.428+69C>A)
| gnomAD v4 |
21 | g.45984538C>T | CA2577628312 | COL6A1 | c.428+69C>T (n.428+69C>T)
| |
21 | g.45984539del | CA2654956408 | COL6A1 | c.428+70del (n.428+70del)
| gnomAD v4 |
21 | g.45984539C>T | CA2818096543 | COL6A1 | c.428+70C>T (n.428+70C>T)
| |
21 | g.45984540T>C | CA2577628313 | COL6A1 | c.428+71T>C (n.428+71T>C)
| |
21 | g.45984542G>A | CA749824669 | COL6A1 | c.428+73G>A (n.428+73G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984542G= | CA2392430166 | COL6A1 | c.428+73G= (n.428+73G=)
| |
21 | g.45984543G>A | CA2392430168 | COL6A1 | c.428+74G>A (n.428+74G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45984543G= | CA2392430167 | COL6A1 | c.428+74G= (n.428+74G=)
| |
21 | g.45984543G>T | CA2654956441 | COL6A1 | c.428+74G>T (n.428+74G>T)
| dbSNP gnomAD v4 |