| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.48582554_48582641delinsAGGGGAGGGACACACAAAAGTCCCACTCCTGGTCCCACCACAGTCACAGACTCACTTCAGGACCCTTGGCTCCAGGACGTCCAGCAAC | CA1363079419 | COL7A1 | c.4531_4564-41delinsGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAAGTGAGTCTGTGACTGTGGTGGGACCAGGAGTGGGACTTTTGTGTGTCCCTCCCCT n.448_481-41delinsGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAAGTGAGTCTGTGACTGTGGTGGGACCAGGAGTGGGACTTTTGTGTGTCCCTCCCCT c.4558_4591-41delinsGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAAGTGAGTCTGTGACTGTGGTGGGACCAGGAGTGGGACTTTTGTGTGTCCCTCCCCT n.4594_4627-41delinsGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAAGTGAGTCTGTGACTGTGGTGGGACCAGGAGTGGGACTTTTGTGTGTCCCTCCCCT n.4567_4600-41delinsGTTGCTGGACGTCCTGGAGCCAAGGGTCCTGAAGTGAGTCTGTGACTGTGGTGGGACCAGGAGTGGGACTTTTGTGTGTCCCTCCCCT | |
| 3 | g.48582555_48582641del | CA2379954 | COL7A1 | c.4531_4564-42del n.448_481-42del c.4558_4591-42del n.4594_4627-42del n.4567_4600-42del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48582618_48582619insCACTCACTTCAGGACCC | CA2665623623 | COL7A1 | c.4563+6_4563+7insGGGGTCCTGAAGTGAGT n.480+6_480+7insGGGGTCCTGAAGTGAGT c.4590+6_4590+7insGGGGTCCTGAAGTGAGT n.4626+6_4626+7insGGGGTCCTGAAGTGAGT n.4599+6_4599+7insGGGGTCCTGAAGTGAGT | gnomAD v4 |
| 3 | g.48582616C>A | CA352688484 | COL7A1 | c.4556G>T (p.Gly1519Val) n.473G>T c.4583G>T (p.Gly1528Val) n.4619G>T n.4592G>T | |
| 3 | g.48582616C= | CA1363079540 | COL7A1 | c.4556G= (p.Gly1519=) n.473G= c.4583G= (p.Gly1528=) n.4619G= n.4592G= | |
| 3 | g.48582616C>G | CA352688486 | COL7A1 | c.4556G>C (p.Gly1519Ala) n.473G>C c.4583G>C (p.Gly1528Ala) n.4619G>C n.4592G>C | |
| 3 | g.48582616C>T | CA257942 | COL7A1 | c.4556G>A (p.Gly1519Asp) n.473G>A c.4583G>A (p.Gly1528Asp) n.4619G>A n.4592G>A | ClinVar dbSNP |
| 3 | g.48582618del | CA2586972301 | COL7A1 | c.4556del (p.Gly1519ValfsTer?) n.473del c.4583del (p.Gly1528ValfsTer?) n.4619del n.4592del | |
| 3 | g.48582617C>A | CA352688493 | COL7A1 | c.4555G>T (p.Gly1519Cys) n.472G>T c.4582G>T (p.Gly1528Cys) n.4618G>T n.4591G>T | gnomAD v4 |
| 3 | g.48582617C= | CA1363079549 | COL7A1 | c.4555G= (p.Gly1519=) n.472G= c.4582G= (p.Gly1528=) n.4618G= n.4591G= | |
| 3 | g.48582617C>G | CA352688511 | COL7A1 | c.4555G>C (p.Gly1519Arg) n.472G>C c.4582G>C (p.Gly1528Arg) n.4618G>C n.4591G>C | |
| 3 | g.48582617C>T | CA352688516 | COL7A1 | c.4555G>A (p.Gly1519Ser) n.472G>A c.4582G>A (p.Gly1528Ser) n.4618G>A n.4591G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.48582617_48582622delinsCCTTGG | CA1363079547 | COL7A1 | c.4550_4555delinsCCAAGG (p.Ala1517=) n.467_472delinsCCAAGG c.4577_4582delinsCCAAGG (p.Ala1526=) n.4613_4618delinsCCAAGG n.4586_4591delinsCCAAGG | |
| 3 | g.48582618C>A | CA352688526 | COL7A1 | c.4554G>T (p.Lys1518Asn) n.471G>T c.4581G>T (p.Lys1527Asn) n.4617G>T n.4590G>T | |
| 3 | g.48582618C>G | CA352688521 | COL7A1 | c.4554G>C (p.Lys1518Asn) n.471G>C c.4581G>C (p.Lys1527Asn) n.4617G>C n.4590G>C | |
| 3 | g.48582618C>T | CA433542198 | COL7A1 | c.4554G>A (p.Lys1518=) n.471G>A c.4581G>A (p.Lys1527=) n.4617G>A n.4590G>A | |
| 3 | g.48582620_48582624del | CA2379963 | COL7A1 | c.4550_4554del (p.Ala1517GlyfsTer3) n.467_471del c.4577_4581del (p.Ala1526GlyfsTer3) n.4613_4617del n.4586_4590del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.48582619T>A | CA352688540 | COL7A1 | c.4553A>T (p.Lys1518Met) n.470A>T c.4580A>T (p.Lys1527Met) n.4616A>T n.4589A>T | |
| 3 | g.48582619T>C | CA352688567 | COL7A1 | c.4553A>G (p.Lys1518Arg) n.470A>G c.4580A>G (p.Lys1527Arg) n.4616A>G n.4589A>G | |
| 3 | g.48582619T>G | CA352688577 | COL7A1 | c.4553A>C (p.Lys1518Thr) n.470A>C c.4580A>C (p.Lys1527Thr) n.4616A>C n.4589A>C | |
| 3 | g.48582620T>A | CA352688578 | COL7A1 | c.4552A>T (p.Lys1518Ter) n.469A>T c.4579A>T (p.Lys1527Ter) n.4615A>T n.4588A>T | |
| 3 | g.48582620T>C | CA352688579 | COL7A1 | c.4552A>G (p.Lys1518Glu) n.469A>G c.4579A>G (p.Lys1527Glu) n.4615A>G n.4588A>G | ClinVar dbSNP |
| 3 | g.48582620T>G | CA352688580 | COL7A1 | c.4552A>C (p.Lys1518Gln) n.469A>C c.4579A>C (p.Lys1527Gln) n.4615A>C n.4588A>C | |
| 3 | g.48582621G>A | CA433542200 | COL7A1 | c.4551C>T (p.Ala1517=) n.468C>T c.4578C>T (p.Ala1526=) n.4614C>T n.4587C>T | |
| 3 | g.48582621G>C | CA433542201 | COL7A1 | c.4551C>G (p.Ala1517=) n.468C>G c.4578C>G (p.Ala1526=) n.4614C>G n.4587C>G | |
| 3 | g.48582621G>T | CA433542202 | COL7A1 | c.4551C>A (p.Ala1517=) n.468C>A c.4578C>A (p.Ala1526=) n.4614C>A n.4587C>A | |
| 3 | g.48582622G>A | CA352688581 | COL7A1 | c.4550C>T (p.Ala1517Val) n.467C>T c.4577C>T (p.Ala1526Val) n.4613C>T n.4586C>T | gnomAD v4 |
| 3 | g.48582622G>C | CA352688583 | COL7A1 | c.4550C>G (p.Ala1517Gly) n.467C>G c.4577C>G (p.Ala1526Gly) n.4613C>G n.4586C>G | |
| 3 | g.48582622G>T | CA352688594 | COL7A1 | c.4550C>A (p.Ala1517Asp) n.467C>A c.4577C>A (p.Ala1526Asp) n.4613C>A n.4586C>A | |
| 3 | g.48582623C>A | CA352688599 | COL7A1 | c.4549G>T (p.Ala1517Ser) n.466G>T c.4576G>T (p.Ala1526Ser) n.4612G>T n.4585G>T | |
| 3 | g.48582623C>G | CA352688602 | COL7A1 | c.4549G>C (p.Ala1517Pro) n.466G>C c.4576G>C (p.Ala1526Pro) n.4612G>C n.4585G>C | |
| 3 | g.48582623C>T | CA352688605 | COL7A1 | c.4549G>A (p.Ala1517Thr) n.466G>A c.4576G>A (p.Ala1526Thr) n.4612G>A n.4585G>A | gnomAD v4 |
| 3 | g.48582624T>A | CA433542206 | COL7A1 | c.4548A>T (p.Gly1516=) n.465A>T c.4575A>T (p.Gly1525=) n.4611A>T n.4584A>T | |
| 3 | g.48582624T>C | CA433542207 | COL7A1 | c.4548A>G (p.Gly1516=) n.465A>G c.4575A>G (p.Gly1525=) n.4611A>G n.4584A>G | |
| 3 | g.48582624T>G | CA433542208 | COL7A1 | c.4548A>C (p.Gly1516=) n.465A>C c.4575A>C (p.Gly1525=) n.4611A>C n.4584A>C | |
| 3 | g.48582625C>A | CA352688614 | COL7A1 | c.4547G>T (p.Gly1516Val) n.464G>T c.4574G>T (p.Gly1525Val) n.4610G>T n.4583G>T | |
| 3 | g.48582625C>G | CA352688612 | COL7A1 | c.4547G>C (p.Gly1516Ala) n.464G>C c.4574G>C (p.Gly1525Ala) n.4610G>C n.4583G>C | |
| 3 | g.48582625C>T | CA352688613 | COL7A1 | c.4547G>A (p.Gly1516Glu) n.464G>A c.4574G>A (p.Gly1525Glu) n.4610G>A n.4583G>A | |
| 3 | g.48582626C>A | CA352688618 | COL7A1 | c.4546G>T (p.Gly1516Ter) n.463G>T c.4573G>T (p.Gly1525Ter) n.4609G>T n.4582G>T | |
| 3 | g.48582626C= | CA1363079560 | COL7A1 | c.4546G= (p.Gly1516=) n.463G= c.4573G= (p.Gly1525=) n.4609G= n.4582G= | |
| 3 | g.48582626C>G | CA352688623 | COL7A1 | c.4546G>C (p.Gly1516Arg) n.463G>C c.4573G>C (p.Gly1525Arg) n.4609G>C n.4582G>C | |
| 3 | g.48582626C>T | CA2379964 | COL7A1 | c.4546G>A (p.Gly1516Arg) n.463G>A c.4573G>A (p.Gly1525Arg) n.4609G>A n.4582G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.48582627A= | CA1363079565 | COL7A1 | c.4545T= (p.Pro1515=) n.462T= c.4572T= (p.Pro1524=) n.4608T= n.4581T= | |
| 3 | g.48582627A>C | CA433542209 | COL7A1 | c.4545T>G (p.Pro1515=) n.462T>G c.4572T>G (p.Pro1524=) n.4608T>G n.4581T>G | dbSNP |
| 3 | g.48582627A>G | CA433542211 | COL7A1 | c.4545T>C (p.Pro1515=) n.462T>C c.4572T>C (p.Pro1524=) n.4608T>C n.4581T>C | |
| 3 | g.48582627A>T | CA433542210 | COL7A1 | c.4545T>A (p.Pro1515=) n.462T>A c.4572T>A (p.Pro1524=) n.4608T>A n.4581T>A | |
| 3 | g.48582628G>A | CA352688637 | COL7A1 | c.4544C>T (p.Pro1515Leu) n.461C>T c.4571C>T (p.Pro1524Leu) n.4607C>T n.4580C>T | |
| 3 | g.48582628G>C | CA352688638 | COL7A1 | c.4544C>G (p.Pro1515Arg) n.461C>G c.4571C>G (p.Pro1524Arg) n.4607C>G n.4580C>G | |
| 3 | g.48582628G>T | CA352688639 | COL7A1 | c.4544C>A (p.Pro1515His) n.461C>A c.4571C>A (p.Pro1524His) n.4607C>A n.4580C>A | |
| 3 | g.48582629G>A | CA352688644 | COL7A1 | c.4543C>T (p.Pro1515Ser) n.460C>T c.4570C>T (p.Pro1524Ser) n.4606C>T n.4579C>T |