21 | g.45987902_45990422del | CA2573320392 | COL6A1 | c.804+248_1002del
| |
21 | g.45988512_45989657delinsTCCCTCCCCATTTCC | CA127114 | COL6A1 | c.805-572_903+5delinsTCCCTCCCCATTTCC
| ClinVar |
21 | g.45989085_45989653del | CA916084262 | COL6A1 | c.806_903+1del
| |
21 | g.45989103_45989117del | CA2695230385 | COL6A1 | c.824_838del (p.Gly275_Lys280delinsGlu)
| |
21 | g.45989104G>A | CA512712313 | COL6A1 | c.825G>A (p.Gly275=)
| |
21 | g.45989104G>C | CA512712311 | COL6A1 | c.825G>C (p.Gly275=)
| |
21 | g.45989104G>T | CA512712310 | COL6A1 | c.825G>T (p.Gly275=)
| |
21 | g.45989105C>A | CA410521492 | COL6A1 | c.826C>A (p.Leu276Ile)
| |
21 | g.45989105C= | CA2392433331 | COL6A1 | c.826C= (p.Leu276=)
| |
21 | g.45989105C>G | CA410521489 | COL6A1 | c.826C>G (p.Leu276Val)
| |
21 | g.45989105C>T | CA410521486 | COL6A1 | c.826C>T (p.Leu276Phe)
| ClinVar dbSNP gnomAD v4 |
21 | g.45989106T>A | CA410521493 | COL6A1 | c.827T>A (p.Leu276His)
| |
21 | g.45989106T>C | CA410521494 | COL6A1 | c.827T>C (p.Leu276Pro)
| |
21 | g.45989106T>G | CA410521498 | COL6A1 | c.827T>G (p.Leu276Arg)
| |
21 | g.45989107C>A | CA512712324 | COL6A1 | c.828C>A (p.Leu276=)
| |
21 | g.45989107C= | CA2392433332 | COL6A1 | c.828C= (p.Leu276=)
| |
21 | g.45989107C>G | CA512712326 | COL6A1 | c.828C>G (p.Leu276=)
| |
21 | g.45989107C>T | CA512712328 | COL6A1 | c.828C>T (p.Leu276=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989108C>A | CA410521500 | COL6A1 | c.829C>A (p.Pro277Thr)
| |
21 | g.45989108C= | CA2392433333 | COL6A1 | c.829C= (p.Pro277=)
| |
21 | g.45989108C>G | CA10069783 | COL6A1 | c.829C>G (p.Pro277Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989108C>T | CA410521505 | COL6A1 | c.829C>T (p.Pro277Ser)
| ClinVar dbSNP |
21 | g.45989109C>A | CA410521507 | COL6A1 | c.830C>A (p.Pro277Gln)
| |
21 | g.45989109C>G | CA410521510 | COL6A1 | c.830C>G (p.Pro277Arg)
| |
21 | g.45989109C>T | CA410521513 | COL6A1 | c.830C>T (p.Pro277Leu)
| gnomAD v4 |
21 | g.45989110A>C | CA512712342 | COL6A1 | c.831A>C (p.Pro277=)
| |
21 | g.45989110A>G | CA512712345 | COL6A1 | c.831A>G (p.Pro277=)
| gnomAD v4 |
21 | g.45989110A>T | CA512712347 | COL6A1 | c.831A>T (p.Pro277=)
| |
21 | g.45989111G>A | CA410521515 | COL6A1 | c.832G>A (p.Gly278Arg)
| COSMIC |
21 | g.45989111G>C | CA410521517 | COL6A1 | c.832G>C (p.Gly278Arg)
| |
21 | g.45989111G>T | CA410521519 | COL6A1 | c.832G>T (p.Gly278Ter)
| |
21 | g.45989112G>A | CA10605117 | COL6A1 | c.833G>A (p.Gly278Glu)
| ClinVar dbSNP |
21 | g.45989112G>C | CA410521523 | COL6A1 | c.833G>C (p.Gly278Ala)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45989112G= | CA2392433334 | COL6A1 | c.833G= (p.Gly278=)
| |
21 | g.45989112G>T | CA410521526 | COL6A1 | c.833G>T (p.Gly278Val)
| ClinVar |
21 | g.45989113A>C | CA512712362 | COL6A1 | c.834A>C (p.Gly278=)
| |
21 | g.45989113A>G | CA512712361 | COL6A1 | c.834A>G (p.Gly278=)
| |
21 | g.45989113A>T | CA512712358 | COL6A1 | c.834A>T (p.Gly278=)
| |
21 | g.45989114G>A | CA10069784 | COL6A1 | c.835G>A (p.Glu279Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989114G>C | CA410521533 | COL6A1 | c.835G>C (p.Glu279Gln)
| |
21 | g.45989114G= | CA2392433335 | COL6A1 | c.835G= (p.Glu279=)
| |
21 | g.45989114G>T | CA410521535 | COL6A1 | c.835G>T (p.Glu279Ter)
| |
21 | g.45989115A= | CA2392433336 | COL6A1 | c.836A= (p.Glu279=)
| |
21 | g.45989115A>C | CA410521537 | COL6A1 | c.836A>C (p.Glu279Ala)
| |
21 | g.45989115A>G | CA410521538 | COL6A1 | c.836A>G (p.Glu279Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989115A>T | CA410521539 | COL6A1 | c.836A>T (p.Glu279Val)
| |
21 | g.45989116G>A | CA10069785 | COL6A1 | c.837G>A (p.Glu279=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989116G>C | CA410521541 | COL6A1 | c.837G>C (p.Glu279Asp)
| |
21 | g.45989116G= | CA2392433337 | COL6A1 | c.837G= (p.Glu279=)
| |
21 | g.45989116G>T | CA410521544 | COL6A1 | c.837G>T (p.Glu279Asp)
| dbSNP |
21 | g.45989117A>C | CA410521546 | COL6A1 | c.838A>C (p.Lys280Gln)
| |
21 | g.45989117A>G | CA410521548 | COL6A1 | c.838A>G (p.Lys280Glu)
| |
21 | g.45989117A>T | CA410521551 | COL6A1 | c.838A>T (p.Lys280Ter)
| |
21 | g.45989118A>C | CA410521556 | COL6A1 | c.839A>C (p.Lys280Thr)
| |
21 | g.45989118A>G | CA410521557 | COL6A1 | c.839A>G (p.Lys280Arg)
| |
21 | g.45989118A>T | CA410521554 | COL6A1 | c.839A>T (p.Lys280Met)
| |
21 | g.45989119G>A | CA512712380 | COL6A1 | c.840G>A (p.Lys280=)
| dbSNP |
21 | g.45989119G>C | CA410521561 | COL6A1 | c.840G>C (p.Lys280Asn)
| |
21 | g.45989119G= | CA2392433338 | COL6A1 | c.840G= (p.Lys280=)
| |
21 | g.45989119G>T | CA410521560 | COL6A1 | c.840G>T (p.Lys280Asn)
| gnomAD v4 |
21 | g.45989119_45989128delinsGGGAGAAGCC | CA2392433339 | COL6A1 | c.840_849delinsGGGAGAAGCC (p.Lys280=)
| |
21 | g.45989119_45989143delinsGGGAGAAGCCGGAGATCCTGTGAGT | CA2392433340 | COL6A1 | c.840_858+6delinsGGGAGAAGCCGGAGATCCTGTGAGT
| |
21 | g.45989120G>A | CA257743 | COL6A1 | c.841G>A (p.Gly281Arg)
| ClinVar dbSNP |
21 | g.45989120G>C | CA410521566 | COL6A1 | c.841G>C (p.Gly281Arg)
| |
21 | g.45989120G= | CA2392433341 | COL6A1 | c.841G= (p.Gly281=)
| |
21 | g.45989120G>T | CA410521568 | COL6A1 | c.841G>T (p.Gly281Ter)
| |
21 | g.45989125_45989133del | CA658658901 | COL6A1 | c.846_854del (p.Glu282_Gly284del)
| ClinVar dbSNP |
21 | g.45989121_45989144del | CA1139666908 | COL6A1 | c.842_858+7del
| ClinVar dbSNP |
21 | g.45989121G>A | CA10603503 | COL6A1 | c.842G>A (p.Gly281Glu)
| ClinVar dbSNP |
21 | g.45989121G>C | CA410521572 | COL6A1 | c.842G>C (p.Gly281Ala)
| |
21 | g.45989121G= | CA2392433342 | COL6A1 | c.842G= (p.Gly281=)
| |
21 | g.45989121G>T | CA410521573 | COL6A1 | c.842G>T (p.Gly281Val)
| |
21 | g.45989122A= | CA2392433343 | COL6A1 | c.843A= (p.Gly281=)
| |
21 | g.45989122A>C | CA512712386 | COL6A1 | c.843A>C (p.Gly281=)
| |
21 | g.45989122A>G | CA512712385 | COL6A1 | c.843A>G (p.Gly281=)
| dbSNP |
21 | g.45989122A>T | CA512712384 | COL6A1 | c.843A>T (p.Gly281=)
| |
21 | g.45989124_45989126del | CA2695230387 | COL6A1 | c.845_847del (p.Glu282del)
| |
21 | g.45989123G>A | CA410521574 | COL6A1 | c.844G>A (p.Glu282Lys)
| COSMIC |
21 | g.45989123G>C | CA410521577 | COL6A1 | c.844G>C (p.Glu282Gln)
| |
21 | g.45989123G>T | CA410521580 | COL6A1 | c.844G>T (p.Glu282Ter)
| |
21 | g.45989124A>C | CA410521583 | COL6A1 | c.845A>C (p.Glu282Ala)
| |
21 | g.45989124A>G | CA410521585 | COL6A1 | c.845A>G (p.Glu282Gly)
| |
21 | g.45989124A>T | CA410521588 | COL6A1 | c.845A>T (p.Glu282Val)
| |
21 | g.45989125A>C | CA410521592 | COL6A1 | c.846A>C (p.Glu282Asp)
| |
21 | g.45989125A>G | CA512712390 | COL6A1 | c.846A>G (p.Glu282=)
| |
21 | g.45989125A>T | CA410521590 | COL6A1 | c.846A>T (p.Glu282Asp)
| |
21 | g.45989126G>A | CA410521595 | COL6A1 | c.847G>A (p.Ala283Thr)
| gnomAD v4 |
21 | g.45989126G>C | CA410521597 | COL6A1 | c.847G>C (p.Ala283Pro)
| |
21 | g.45989126G>T | CA410521599 | COL6A1 | c.847G>T (p.Ala283Ser)
| |
21 | g.45989127C>A | CA410521603 | COL6A1 | c.848C>A (p.Ala283Asp)
| gnomAD v4 |
21 | g.45989127C>G | CA410521605 | COL6A1 | c.848C>G (p.Ala283Gly)
| |
21 | g.45989127C>T | CA410521607 | COL6A1 | c.848C>T (p.Ala283Val)
| COSMIC |
21 | g.45989128C>A | CA512712394 | COL6A1 | c.849C>A (p.Ala283=)
| |
21 | g.45989128C= | CA2392433344 | COL6A1 | c.849C= (p.Ala283=)
| |
21 | g.45989128C>G | CA512712395 | COL6A1 | c.849C>G (p.Ala283=)
| |
21 | g.45989128C>T | CA512712396 | COL6A1 | c.849C>T (p.Ala283=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
21 | g.45989129G>A | CA127115 | COL6A1 | c.850G>A (p.Gly284Arg)
| ClinVar dbSNP gnomAD v2 COSMIC |
21 | g.45989129G>C | CA410521612 | COL6A1 | c.850G>C (p.Gly284Arg)
| |
21 | g.45989129G= | CA2392433345 | COL6A1 | c.850G= (p.Gly284=)
| |
21 | g.45989129G>T | CA410521615 | COL6A1 | c.850G>T (p.Gly284Ter)
| |
21 | g.45989130G>A | CA410521619 | COL6A1 | c.851G>A (p.Gly284Glu)
| |
21 | g.45989130G>C | CA410521621 | COL6A1 | c.851G>C (p.Gly284Ala)
| |
21 | g.45989130G>T | CA410521623 | COL6A1 | c.851G>T (p.Gly284Val)
| |
21 | g.45989131A>C | CA512712399 | COL6A1 | c.852A>C (p.Gly284=)
| |
21 | g.45989131A>G | CA512712400 | COL6A1 | c.852A>G (p.Gly284=)
| gnomAD v4 |
21 | g.45989131A>T | CA512712401 | COL6A1 | c.852A>T (p.Gly284=)
| |
21 | g.45989132G>A | CA10069786 | COL6A1 | c.853G>A (p.Asp285Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989132G>C | CA410521630 | COL6A1 | c.853G>C (p.Asp285His)
| |
21 | g.45989132G= | CA2392433346 | COL6A1 | c.853G= (p.Asp285=)
| |
21 | g.45989132G>T | CA410521627 | COL6A1 | c.853G>T (p.Asp285Tyr)
| |
21 | g.45989133A= | CA2392433347 | COL6A1 | c.854A= (p.Asp285=)
| |
21 | g.45989133A>C | CA410521635 | COL6A1 | c.854A>C (p.Asp285Ala)
| |
21 | g.45989133A>G | CA410521638 | COL6A1 | c.854A>G (p.Asp285Gly)
| dbSNP gnomAD v4 |
21 | g.45989133A>T | CA410521640 | COL6A1 | c.854A>T (p.Asp285Val)
| |
21 | g.45989134T>A | CA410521643 | COL6A1 | c.855T>A (p.Asp285Glu)
| |
21 | g.45989134T>C | CA512712402 | COL6A1 | c.855T>C (p.Asp285=)
| |
21 | g.45989134T>G | CA321961218 | COL6A1 | c.855T>G (p.Asp285Glu)
| dbSNP |
21 | g.45989134T= | CA2392433349 | COL6A1 | c.855T= (p.Asp285=)
| |
21 | g.45989134_45989135delinsTC | CA2392433348 | COL6A1 | c.855_856delinsTC (p.Asp285=)
| |
21 | g.45989135C>A | CA410521646 | COL6A1 | c.856C>A (p.Pro286Thr)
| |
21 | g.45989135C= | CA2392433350 | COL6A1 | c.856C= (p.Pro286=)
| |
21 | g.45989135C>G | CA410521647 | COL6A1 | c.856C>G (p.Pro286Ala)
| |
21 | g.45989135C>T | CA10069787 | COL6A1 | c.856C>T (p.Pro286Ser)
| dbSNP ExAC gnomAD v4 |
21 | g.45989136del | CA257738 | COL6A1 | c.857del (p.Pro286LeufsTer15)
| ClinVar dbSNP |
21 | g.45989136C>A | CA410521649 | COL6A1 | c.857C>A (p.Pro286His)
| gnomAD v4 |
21 | g.45989136C>G | CA410521651 | COL6A1 | c.857C>G (p.Pro286Arg)
| |
21 | g.45989136C>T | CA410521652 | COL6A1 | c.857C>T (p.Pro286Leu)
| |
21 | g.45989137T>A | CA512712406 | COL6A1 | c.858T>A (p.Pro286=)
| |
21 | g.45989137T>C | CA512712407 | COL6A1 | c.858T>C (p.Pro286=)
| gnomAD v4 |
21 | g.45989137T>G | CA512712408 | COL6A1 | c.858T>G (p.Pro286=)
| |
21 | g.45989138G>A | CA410521656 | COL6A1 | c.858+1G>A (n.858+1G>A)
| dbSNP gnomAD v4 |
21 | g.45989138G>C | CA410521658 | COL6A1 | c.858+1G>C (n.858+1G>C)
| |
21 | g.45989138G= | CA2392433351 | COL6A1 | c.858+1G= (n.858+1G=)
| |
21 | g.45989138G>T | CA410521655 | COL6A1 | c.858+1G>T (n.858+1G>T)
| |
21 | g.45989139T>A | CA410521660 | COL6A1 | c.858+2T>A (n.858+2T>A)
| |
21 | g.45989139T>C | CA410521661 | COL6A1 | c.858+2T>C (n.858+2T>C)
| |
21 | g.45989139T>G | CA410521663 | COL6A1 | c.858+2T>G (n.858+2T>G)
| |
21 | g.45989140G>A | CA2392433353 | COL6A1 | c.858+3G>A (n.858+3G>A)
| dbSNP gnomAD v4 |
21 | g.45989140G>C | CA321961229 | COL6A1 | c.858+3G>C (n.858+3G>C)
| dbSNP |
21 | g.45989140G= | CA2392433352 | COL6A1 | c.858+3G= (n.858+3G=)
| |
21 | g.45989142G>A | CA2573157615 | COL6A1 | c.858+5G>A (n.858+5G>A)
| ClinVar dbSNP gnomAD v4 |
21 | g.45989142G>T | CA2580098913 | COL6A1 | c.858+5G>T (n.858+5G>T)
| ClinVar |
21 | g.45989144G>C | CA2499225989 | COL6A1 | c.858+7G>C (n.858+7G>C)
| ClinVar dbSNP |
21 | g.45989145C>A | CA2654957328 | COL6A1 | c.858+8C>A (n.858+8C>A)
| gnomAD v4 |
21 | g.45989145C>T | CA2580098914 | COL6A1 | c.858+8C>T (n.858+8C>T)
| ClinVar |
21 | g.45989145_45989149delinsCCTGA | CA2392433354 | COL6A1 | c.858+8_858+12delinsCCTGA (n.858+8_858+12delinsCCTGA)
| |
21 | g.45989146C>A | CA2654957329 | COL6A1 | c.858+9C>A (n.858+9C>A)
| gnomAD v4 |
21 | g.45989146C>G | CA2654957330 | COL6A1 | c.858+9C>G (n.858+9C>G)
| gnomAD v4 |
21 | g.45989149_45989152del | CA2392433355 | COL6A1 | c.858+12_858+15del (n.858+12_858+15del)
| dbSNP |
21 | g.45989147T>C | CA2499225990 | COL6A1 | c.858+10T>C (n.858+10T>C)
| ClinVar dbSNP gnomAD v4 |
21 | g.45989148G>C | CA2654957331 | COL6A1 | c.858+11G>C (n.858+11G>C)
| gnomAD v4 |
21 | g.45989148G>T | CA2654957332 | COL6A1 | c.858+11G>T (n.858+11G>T)
| gnomAD v4 |
21 | g.45989149A>C | CA2654957333 | COL6A1 | c.858+12A>C (n.858+12A>C)
| gnomAD v4 |
21 | g.45989150del | CA2654957334 | COL6A1 | c.858+13del (n.858+13del)
| gnomAD v4 |
21 | g.45989150C>A | CA10069788 | COL6A1 | c.858+13C>A (n.858+13C>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989150C= | CA2392433356 | COL6A1 | c.858+13C= (n.858+13C=)
| |
21 | g.45989150C>G | CA638178547 | COL6A1 | c.858+13C>G (n.858+13C>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989150C>T | CA2580098915 | COL6A1 | c.858+13C>T (n.858+13C>T)
| ClinVar |
21 | g.45989151T>C | CA2654957335 | COL6A1 | c.858+14T>C (n.858+14T>C)
| gnomAD v4 |
21 | g.45989151dup | CA2392433357 | COL6A1 | c.858+14dup (n.858+14dup)
| dbSNP gnomAD v4 |
21 | g.45989153_45989154del | CA2577628437 | COL6A1 | c.858+16_858+17del (n.858+16_858+17del)
| gnomAD v4 |
21 | g.45989152G>A | CA10069789 | COL6A1 | c.858+15G>A (n.858+15G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989152G>C | CA2654957336 | COL6A1 | c.858+15G>C (n.858+15G>C)
| gnomAD v4 |
21 | g.45989152G= | CA2392433358 | COL6A1 | c.858+15G= (n.858+15G=)
| |
21 | g.45989154G>A | CA2392433360 | COL6A1 | c.858+17G>A (n.858+17G>A)
| dbSNP gnomAD v4 |
21 | g.45989154G>C | CA2654957337 | COL6A1 | c.858+17G>C (n.858+17G>C)
| gnomAD v4 |
21 | g.45989154G= | CA2392433359 | COL6A1 | c.858+17G= (n.858+17G=)
| |
21 | g.45989155G>A | CA2654957338 | COL6A1 | c.858+18G>A (n.858+18G>A)
| gnomAD v4 |
21 | g.45989155G>T | CA2654957339 | COL6A1 | c.858+18G>T (n.858+18G>T)
| gnomAD v4 |
21 | g.45989156G>A | CA2654957340 | COL6A1 | c.858+19G>A (n.858+19G>A)
| gnomAD v4 |
21 | g.45989156G= | CA2392433361 | COL6A1 | c.858+19G= (n.858+19G=)
| |
21 | g.45989156G>T | CA749829767 | COL6A1 | c.858+19G>T (n.858+19G>T)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45989157G>A | CA638178552 | COL6A1 | c.858+20G>A (n.858+20G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989157G= | CA2392433362 | COL6A1 | c.858+20G= (n.858+20G=)
| |
21 | g.45989158T>C | CA749829772 | COL6A1 | c.858+21T>C (n.858+21T>C)
| dbSNP gnomAD v4 |
21 | g.45989158T>G | CA321961248 | COL6A1 | c.858+21T>G (n.858+21T>G)
| dbSNP gnomAD v4 |
21 | g.45989158T= | CA2392433363 | COL6A1 | c.858+21T= (n.858+21T=)
| |
21 | g.45989159G>A | CA10069791 | COL6A1 | c.858+22G>A (n.858+22G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989159G= | CA2392433364 | COL6A1 | c.858+22G= (n.858+22G=)
| |
21 | g.45989159G>T | CA10069790 | COL6A1 | c.858+22G>T (n.858+22G>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989163G>A | CA2654957341 | COL6A1 | c.858+26G>A (n.858+26G>A)
| gnomAD v4 |
21 | g.45989163G>T | CA2818097302 | COL6A1 | c.858+26G>T (n.858+26G>T)
| |
21 | g.45989164C>A | CA749829779 | COL6A1 | c.858+27C>A (n.858+27C>A)
| dbSNP gnomAD v4 |
21 | g.45989164C= | CA2392433365 | COL6A1 | c.858+27C= (n.858+27C=)
| |
21 | g.45989164C>T | CA10069792 | COL6A1 | c.858+27C>T (n.858+27C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989165C>A | CA2654957342 | COL6A1 | c.858+28C>A (n.858+28C>A)
| gnomAD v4 |
21 | g.45989166C>A | CA2654957343 | COL6A1 | c.858+29C>A (n.858+29C>A)
| gnomAD v4 |
21 | g.45989166C= | CA2392433366 | COL6A1 | c.858+29C= (n.858+29C=)
| |
21 | g.45989167T>C | CA2654957344 | COL6A1 | c.858+30T>C (n.858+30T>C)
| gnomAD v4 |
21 | g.45989167dup | CA638178565 | COL6A1 | c.858+30dup (n.858+30dup)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45989169A>G | CA2577628438 | COL6A1 | c.858+32A>G (n.858+32A>G)
| gnomAD v4 |
21 | g.45989174C>A | CA2654957345 | COL6A1 | c.858+37C>A (n.858+37C>A)
| gnomAD v4 |
21 | g.45989174C= | CA2392433367 | COL6A1 | c.858+37C= (n.858+37C=)
| |
21 | g.45989174C>T | CA638178566 | COL6A1 | c.858+37C>T (n.858+37C>T)
| dbSNP gnomAD v2 |
21 | g.45989175T>C | CA2654957346 | COL6A1 | c.858+38T>C (n.858+38T>C)
| gnomAD v4 |
21 | g.45989176G>A | CA2392433369 | COL6A1 | c.858+39G>A (n.858+39G>A)
| dbSNP gnomAD v4 |
21 | g.45989176G= | CA2392433368 | COL6A1 | c.858+39G= (n.858+39G=)
| |
21 | g.45989177del | CA2654957347 | COL6A1 | c.858+40del (n.858+40del)
| gnomAD v4 |
21 | g.45989177G>A | CA2654957348 | COL6A1 | c.858+40G>A (n.858+40G>A)
| gnomAD v4 |
21 | g.45989178A= | CA2392433370 | COL6A1 | c.858+41A= (n.858+41A=)
| |
21 | g.45989178A>C | CA749829785 | COL6A1 | c.858+41A>C (n.858+41A>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45989178A>G | CA2654957349 | COL6A1 | c.858+41A>G (n.858+41A>G)
| gnomAD v4 |
21 | g.45989180G>A | CA2654957350 | COL6A1 | c.858+43G>A (n.858+43G>A)
| gnomAD v4 |
21 | g.45989180G>T | CA2654957351 | COL6A1 | c.858+43G>T (n.858+43G>T)
| gnomAD v4 |
21 | g.45989181C>A | CA2392433373 | COL6A1 | c.858+44C>A (n.858+44C>A)
| dbSNP gnomAD v4 |
21 | g.45989181C= | CA2392433372 | COL6A1 | c.858+44C= (n.858+44C=)
| |
21 | g.45989181C>T | CA10069794 | COL6A1 | c.858+44C>T (n.858+44C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989181_45989182delinsCG | CA2392433371 | COL6A1 | c.858+44_858+45delinsCG (n.858+44_858+45delinsCG)
| |
21 | g.45989182G>A | CA10069795 | COL6A1 | c.858+45G>A (n.858+45G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989182G= | CA2392433374 | COL6A1 | c.858+45G= (n.858+45G=)
| |
21 | g.45989182G>T | CA2654957352 | COL6A1 | c.858+45G>T (n.858+45G>T)
| gnomAD v4 |
21 | g.45989185del | CA10069793 | COL6A1 | c.858+48del (n.858+48del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989184G>A | CA2577628439 | COL6A1 | c.858+47G>A (n.858+47G>A)
| gnomAD v4 |
21 | g.45989185G>A | CA638178572 | COL6A1 | c.858+48G>A (n.858+48G>A)
| dbSNP gnomAD v2 gnomAD v4 |
21 | g.45989185G= | CA2392433375 | COL6A1 | c.858+48G= (n.858+48G=)
| |
21 | g.45989185G>T | CA2577628440 | COL6A1 | c.858+48G>T (n.858+48G>T)
| gnomAD v4 |
21 | g.45989187A= | CA2392433376 | COL6A1 | c.858+50A= (n.858+50A=)
| |
21 | g.45989187A>C | CA2818097304 | COL6A1 | c.858+50A>C (n.858+50A>C)
| |
21 | g.45989187A>G | CA10069796 | COL6A1 | c.858+50A>G (n.858+50A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.45989188C>A | CA2654957353 | COL6A1 | c.858+51C>A (n.858+51C>A)
| gnomAD v4 |
21 | g.45989188C= | CA2392433377 | COL6A1 | c.858+51C= (n.858+51C=)
| |
21 | g.45989188C>G | CA10069798 | COL6A1 | c.858+51C>G (n.858+51C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989188C>T | CA10069797 | COL6A1 | c.858+51C>T (n.858+51C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989189G>A | CA10069799 | COL6A1 | c.858+52G>A (n.858+52G>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989189G>C | CA749829794 | COL6A1 | c.858+52G>C (n.858+52G>C)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45989189G= | CA2392433378 | COL6A1 | c.858+52G= (n.858+52G=)
| |
21 | g.45989189G>T | CA2654957354 | COL6A1 | c.858+52G>T (n.858+52G>T)
| gnomAD v4 |
21 | g.45989190A= | CA2392433379 | COL6A1 | c.858+53A= (n.858+53A=)
| |
21 | g.45989190A>G | CA321961270 | COL6A1 | c.858+53A>G (n.858+53A>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45989191C>A | CA2654957355 | COL6A1 | c.858+54C>A (n.858+54C>A)
| gnomAD v4 |
21 | g.45989191C= | CA2392433380 | COL6A1 | c.858+54C= (n.858+54C=)
| |
21 | g.45989191C>G | CA1022878858 | COL6A1 | c.858+54C>G (n.858+54C>G)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45989191C>T | CA2577628441 | COL6A1 | c.858+54C>T (n.858+54C>T)
| gnomAD v4 |
21 | g.45989192T>A | CA2654957357 | COL6A1 | c.858+55T>A (n.858+55T>A)
| gnomAD v4 |
21 | g.45989192_45989193del | CA2654957356 | COL6A1 | c.858+55_858+56del (n.858+55_858+56del)
| gnomAD v4 |
21 | g.45989193A>G | CA2818097305 | COL6A1 | c.858+56A>G (n.858+56A>G)
| |
21 | g.45989194G>A | CA2577628442 | COL6A1 | c.858+57G>A (n.858+57G>A)
| |
21 | g.45989195G>T | CA2654957358 | COL6A1 | c.858+58G>T (n.858+58G>T)
| gnomAD v4 |
21 | g.45989196C>A | CA2654957360 | COL6A1 | c.858+59C>A (n.858+59C>A)
| gnomAD v4 |
21 | g.45989196C>T | CA2654957359 | COL6A1 | c.858+59C>T (n.858+59C>T)
| gnomAD v4 |
21 | g.45989197C>A | CA2654957361 | COL6A1 | c.858+60C>A (n.858+60C>A)
| gnomAD v4 |
21 | g.45989198T>C | CA2577628443 | COL6A1 | c.858+61T>C (n.858+61T>C)
| gnomAD v4 |
21 | g.45989198T>G | CA2654957362 | COL6A1 | c.858+61T>G (n.858+61T>G)
| gnomAD v4 |
21 | g.45989199C>A | CA2580670426 | COL6A1 | c.858+62C>A (n.858+62C>A)
| gnomAD v4 |
21 | g.45989199C= | CA2392433381 | COL6A1 | c.858+62C= (n.858+62C=)
| |
21 | g.45989199C>G | CA321961272 | COL6A1 | c.858+62C>G (n.858+62C>G)
| dbSNP gnomAD v4 |
21 | g.45989199C>T | CA14894524 | COL6A1 | c.858+62C>T (n.858+62C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989200G>A | CA321961276 | COL6A1 | c.858+63G>A (n.858+63G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.45989200G>C | CA2654957363 | COL6A1 | c.858+63G>C (n.858+63G>C)
| gnomAD v4 |
21 | g.45989200G= | CA2392433382 | COL6A1 | c.858+63G= (n.858+63G=)
| |
21 | g.45989201G>A | CA1022878868 | COL6A1 | c.858+64G>A (n.858+64G>A)
| dbSNP gnomAD v3 gnomAD v4 |
21 | g.45989201G>C | CA2654957364 | COL6A1 | c.858+64G>C (n.858+64G>C)
| gnomAD v4 |
21 | g.45989201G= | CA2392433383 | COL6A1 | c.858+64G= (n.858+64G=)
| |
21 | g.45989201G>T | CA2654957365 | COL6A1 | c.858+64G>T (n.858+64G>T)
| gnomAD v4 |
21 | g.45989202A>G | CA2654957366 | COL6A1 | c.858+65A>G (n.858+65A>G)
| gnomAD v4 |
21 | g.45989203A>G | CA2654957367 | COL6A1 | c.858+66A>G (n.858+66A>G)
| gnomAD v4 |
21 | g.45989204A>G | CA2654957368 | COL6A1 | c.858+67A>G (n.858+67A>G)
| gnomAD v4 |