| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.7015672T>C | CA2282694571 | LAMA1 | c.3126+50A>G (n.3126+50A>G) n.4141+50A>G c.1554+50A>G (n.1554+50A>G) | dbSNP gnomAD v4 |
| 18 | g.7015672T= | CA2282694570 | LAMA1 | c.3126+50A= (n.3126+50A=) n.4141+50A= c.1554+50A= (n.1554+50A=) | |
| 18 | g.7015674C>T | CA2640920157 | LAMA1 | c.3126+48G>A (n.3126+48G>A) n.4141+48G>A c.1554+48G>A (n.1554+48G>A) | gnomAD v4 |
| 18 | g.7015677C= | CA2282694572 | LAMA1 | c.3126+45G= (n.3126+45G=) n.4141+45G= c.1554+45G= (n.1554+45G=) | |
| 18 | g.7015677C>T | CA8882390 | LAMA1 | c.3126+45G>A (n.3126+45G>A) n.4141+45G>A c.1554+45G>A (n.1554+45G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015678A>G | CA2640920160 | LAMA1 | c.3126+44T>C (n.3126+44T>C) n.4141+44T>C c.1554+44T>C (n.1554+44T>C) | gnomAD v4 |
| 18 | g.7015680A>T | CA2640920161 | LAMA1 | c.3126+42T>A (n.3126+42T>A) n.4141+42T>A c.1554+42T>A (n.1554+42T>A) | gnomAD v4 |
| 18 | g.7015683A>C | CA2517357415 | LAMA1 | c.3126+39T>G (n.3126+39T>G) n.4141+39T>G c.1554+39T>G (n.1554+39T>G) | |
| 18 | g.7015684A= | CA2282694573 | LAMA1 | c.3126+38T= (n.3126+38T=) n.4141+38T= c.1554+38T= (n.1554+38T=) | |
| 18 | g.7015684A>G | CA781976476 | LAMA1 | c.3126+38T>C (n.3126+38T>C) n.4141+38T>C c.1554+38T>C (n.1554+38T>C) | dbSNP gnomAD v4 |
| 18 | g.7015685C>A | CA628132822 | LAMA1 | c.3126+37G>T (n.3126+37G>T) n.4141+37G>T c.1554+37G>T (n.1554+37G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015685C= | CA2282694574 | LAMA1 | c.3126+37G= (n.3126+37G=) n.4141+37G= c.1554+37G= (n.1554+37G=) | |
| 18 | g.7015685C>G | CA2576450397 | LAMA1 | c.3126+37G>C (n.3126+37G>C) n.4141+37G>C c.1554+37G>C (n.1554+37G>C) | gnomAD v4 |
| 18 | g.7015685C>T | CA2576450396 | LAMA1 | c.3126+37G>A (n.3126+37G>A) n.4141+37G>A c.1554+37G>A (n.1554+37G>A) | |
| 18 | g.7015687C>A | CA295779478 | LAMA1 | c.3126+35G>T (n.3126+35G>T) n.4141+35G>T c.1554+35G>T (n.1554+35G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015687C= | CA2282694575 | LAMA1 | c.3126+35G= (n.3126+35G=) n.4141+35G= c.1554+35G= (n.1554+35G=) | |
| 18 | g.7015687C>T | CA628132823 | LAMA1 | c.3126+35G>A (n.3126+35G>A) n.4141+35G>A c.1554+35G>A (n.1554+35G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015688T>C | CA628132824 | LAMA1 | c.3126+34A>G (n.3126+34A>G) n.4141+34A>G c.1554+34A>G (n.1554+34A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015688T= | CA2282694576 | LAMA1 | c.3126+34A= (n.3126+34A=) n.4141+34A= c.1554+34A= (n.1554+34A=) | |
| 18 | g.7015690A= | CA2282694577 | LAMA1 | c.3126+32T= (n.3126+32T=) n.4141+32T= c.1554+32T= (n.1554+32T=) | |
| 18 | g.7015690A>G | CA8882391 | LAMA1 | c.3126+32T>C (n.3126+32T>C) n.4141+32T>C c.1554+32T>C (n.1554+32T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015691G>A | CA781976499 | LAMA1 | c.3126+31C>T (n.3126+31C>T) n.4141+31C>T c.1554+31C>T (n.1554+31C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015691G>C | CA8882392 | LAMA1 | c.3126+31C>G (n.3126+31C>G) n.4141+31C>G c.1554+31C>G (n.1554+31C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015691G= | CA2282694578 | LAMA1 | c.3126+31C= (n.3126+31C=) n.4141+31C= c.1554+31C= (n.1554+31C=) | |
| 18 | g.7015696_7015697del | CA2640920163 | LAMA1 | c.3126+25_3126+26del (n.3126+25_3126+26del) n.4141+25_4141+26del c.1554+25_1554+26del (n.1554+25_1554+26del) | gnomAD v4 |
| 18 | g.7015697C>A | CA2640920165 | LAMA1 | c.3126+25G>T (n.3126+25G>T) n.4141+25G>T c.1554+25G>T (n.1554+25G>T) | gnomAD v4 |
| 18 | g.7015698A= | CA2282694579 | LAMA1 | c.3126+24T= (n.3126+24T=) n.4141+24T= c.1554+24T= (n.1554+24T=) | |
| 18 | g.7015698A>C | CA2282694580 | LAMA1 | c.3126+24T>G (n.3126+24T>G) n.4141+24T>G c.1554+24T>G (n.1554+24T>G) | dbSNP gnomAD v4 |
| 18 | g.7015701A= | CA2282694581 | LAMA1 | c.3126+21T= (n.3126+21T=) n.4141+21T= c.1554+21T= (n.1554+21T=) | |
| 18 | g.7015701A>G | CA987524504 | LAMA1 | c.3126+21T>C (n.3126+21T>C) n.4141+21T>C c.1554+21T>C (n.1554+21T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015702G>A | CA628132825 | LAMA1 | c.3126+20C>T (n.3126+20C>T) n.4141+20C>T c.1554+20C>T (n.1554+20C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015702G>C | CA295779501 | LAMA1 | c.3126+20C>G (n.3126+20C>G) n.4141+20C>G c.1554+20C>G (n.1554+20C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015702G= | CA2282694582 | LAMA1 | c.3126+20C= (n.3126+20C=) n.4141+20C= c.1554+20C= (n.1554+20C=) | |
| 18 | g.7015703C>A | CA8882393 | LAMA1 | c.3126+19G>T (n.3126+19G>T) n.4141+19G>T c.1554+19G>T (n.1554+19G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015703C= | CA2282694583 | LAMA1 | c.3126+19G= (n.3126+19G=) n.4141+19G= c.1554+19G= (n.1554+19G=) | |
| 18 | g.7015703C>G | CA295779526 | LAMA1 | c.3126+19G>C (n.3126+19G>C) n.4141+19G>C c.1554+19G>C (n.1554+19G>C) | dbSNP gnomAD v4 |
| 18 | g.7015703C>T | CA628132826 | LAMA1 | c.3126+19G>A (n.3126+19G>A) n.4141+19G>A c.1554+19G>A (n.1554+19G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.7015704G>A | CA8882394 | LAMA1 | c.3126+18C>T (n.3126+18C>T) n.4141+18C>T c.1554+18C>T (n.1554+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015704G>C | CA2532393467 | LAMA1 | c.3126+18C>G (n.3126+18C>G) n.4141+18C>G c.1554+18C>G (n.1554+18C>G) | |
| 18 | g.7015704G= | CA2282694584 | LAMA1 | c.3126+18C= (n.3126+18C=) n.4141+18C= c.1554+18C= (n.1554+18C=) | |
| 18 | g.7015706G>T | CA2640920171 | LAMA1 | c.3126+16C>A (n.3126+16C>A) n.4141+16C>A c.1554+16C>A (n.1554+16C>A) | gnomAD v4 |
| 18 | g.7015709T>C | CA2282694585 | LAMA1 | c.3126+13A>G (n.3126+13A>G) n.4141+13A>G c.1554+13A>G (n.1554+13A>G) | dbSNP gnomAD v4 |
| 18 | g.7015709T= | CA2282694586 | LAMA1 | c.3126+13A= (n.3126+13A=) n.4141+13A= c.1554+13A= (n.1554+13A=) | |
| 18 | g.7015710G>A | CA2640920172 | LAMA1 | c.3126+12C>T (n.3126+12C>T) n.4141+12C>T c.1554+12C>T (n.1554+12C>T) | gnomAD v4 |
| 18 | g.7015710G>T | CA2640920173 | LAMA1 | c.3126+12C>A (n.3126+12C>A) n.4141+12C>A c.1554+12C>A (n.1554+12C>A) | gnomAD v4 |
| 18 | g.7015711A= | CA2282694587 | LAMA1 | c.3126+11T= (n.3126+11T=) n.4141+11T= c.1554+11T= (n.1554+11T=) | |
| 18 | g.7015711A>T | CA2282694588 | LAMA1 | c.3126+11T>A (n.3126+11T>A) n.4141+11T>A c.1554+11T>A (n.1554+11T>A) | dbSNP gnomAD v4 |
| 18 | g.7015712C>T | CA2640920176 | LAMA1 | c.3126+10G>A (n.3126+10G>A) n.4141+10G>A c.1554+10G>A (n.1554+10G>A) | gnomAD v4 |
| 18 | g.7015714G>A | CA628132827 | LAMA1 | c.3126+8C>T (n.3126+8C>T) n.4141+8C>T c.1554+8C>T (n.1554+8C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015714G= | CA2282694589 | LAMA1 | c.3126+8C= (n.3126+8C=) n.4141+8C= c.1554+8C= (n.1554+8C=) | |
| 18 | g.7015715T>A | CA2581333927 | LAMA1 | c.3126+7A>T (n.3126+7A>T) n.4141+7A>T c.1554+7A>T (n.1554+7A>T) | |
| 18 | g.7015715T>C | CA8882395 | LAMA1 | c.3126+7A>G (n.3126+7A>G) n.4141+7A>G c.1554+7A>G (n.1554+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015715T>G | CA8882396 | LAMA1 | c.3126+7A>C (n.3126+7A>C) n.4141+7A>C c.1554+7A>C (n.1554+7A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015715T= | CA2282694590 | LAMA1 | c.3126+7A= (n.3126+7A=) n.4141+7A= c.1554+7A= (n.1554+7A=) | |
| 18 | g.7015716G>A | CA8882397 | LAMA1 | c.3126+6C>T (n.3126+6C>T) n.4141+6C>T c.1554+6C>T (n.1554+6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015716G>C | CA2640920185 | LAMA1 | c.3126+6C>G (n.3126+6C>G) n.4141+6C>G c.1554+6C>G (n.1554+6C>G) | gnomAD v4 |
| 18 | g.7015716G= | CA2282694591 | LAMA1 | c.3126+6C= (n.3126+6C=) n.4141+6C= c.1554+6C= (n.1554+6C=) | |
| 18 | g.7015717C>A | CA2810869200 | LAMA1 | c.3126+5G>T (n.3126+5G>T) n.4141+5G>T c.1554+5G>T (n.1554+5G>T) | |
| 18 | g.7015719C>T | CA2640920187 | LAMA1 | c.3126+3G>A (n.3126+3G>A) n.4141+3G>A c.1554+3G>A (n.1554+3G>A) | gnomAD v4 |
| 18 | g.7015720A>C | CA401850387 | LAMA1 | c.3126+2T>G (n.3126+2T>G) n.4141+2T>G c.1554+2T>G (n.1554+2T>G) | |
| 18 | g.7015720A>G | CA401850388 | LAMA1 | c.3126+2T>C (n.3126+2T>C) n.4141+2T>C c.1554+2T>C (n.1554+2T>C) | |
| 18 | g.7015720A>T | CA401850389 | LAMA1 | c.3126+2T>A (n.3126+2T>A) n.4141+2T>A c.1554+2T>A (n.1554+2T>A) | |
| 18 | g.7015721C>A | CA401850390 | LAMA1 | c.3126+1G>T (n.3126+1G>T) n.4141+1G>T c.1554+1G>T (n.1554+1G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015721C= | CA2282694592 | LAMA1 | c.3126+1G= (n.3126+1G=) n.4141+1G= c.1554+1G= (n.1554+1G=) | |
| 18 | g.7015721C>G | CA401850391 | LAMA1 | c.3126+1G>C (n.3126+1G>C) n.4141+1G>C c.1554+1G>C (n.1554+1G>C) | |
| 18 | g.7015721C>T | CA401850392 | LAMA1 | c.3126+1G>A (n.3126+1G>A) n.4141+1G>A c.1554+1G>A (n.1554+1G>A) | |
| 18 | g.7015722C>A | CA401850394 | LAMA1 | c.3126G>T (p.Gln1042His) n.4141G>T c.1554G>T (p.Gln518His) | |
| 18 | g.7015722C= | CA2282694593 | LAMA1 | c.3126G= (p.Gln1042=) n.4141G= c.1554G= (p.Gln518=) | |
| 18 | g.7015722C>G | CA401850393 | LAMA1 | c.3126G>C (p.Gln1042His) n.4141G>C c.1554G>C (p.Gln518His) | |
| 18 | g.7015722C>T | CA502489953 | LAMA1 | c.3126G>A (p.Gln1042=) n.4141G>A c.1554G>A (p.Gln518=) | dbSNP gnomAD v4 COSMIC |
| 18 | g.7015723T>A | CA401850395 | LAMA1 | c.3125A>T (p.Gln1042Leu) n.4140A>T c.1553A>T (p.Gln518Leu) | |
| 18 | g.7015723T>C | CA401850396 | LAMA1 | c.3125A>G (p.Gln1042Arg) n.4140A>G c.1553A>G (p.Gln518Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015723T>G | CA401850397 | LAMA1 | c.3125A>C (p.Gln1042Pro) n.4140A>C c.1553A>C (p.Gln518Pro) | |
| 18 | g.7015723T= | CA2282694594 | LAMA1 | c.3125A= (p.Gln1042=) n.4140A= c.1553A= (p.Gln518=) | |
| 18 | g.7015724G>A | CA16620719 | LAMA1 | c.3124C>T (p.Gln1042Ter) n.4139C>T c.1552C>T (p.Gln518Ter) | ClinVar dbSNP |
| 18 | g.7015724G>C | CA401850398 | LAMA1 | c.3124C>G (p.Gln1042Glu) n.4139C>G c.1552C>G (p.Gln518Glu) | |
| 18 | g.7015724G= | CA2282694595 | LAMA1 | c.3124C= (p.Gln1042=) n.4139C= c.1552C= (p.Gln518=) | |
| 18 | g.7015724G>T | CA401850399 | LAMA1 | c.3124C>A (p.Gln1042Lys) n.4139C>A c.1552C>A (p.Gln518Lys) | |
| 18 | g.7015725G>A | CA502489962 | LAMA1 | c.3123C>T (p.Cys1041=) n.4138C>T c.1551C>T (p.Cys517=) | gnomAD v4 COSMIC |
| 18 | g.7015725G>C | CA401850400 | LAMA1 | c.3123C>G (p.Cys1041Trp) n.4138C>G c.1551C>G (p.Cys517Trp) | |
| 18 | g.7015725G>T | CA401850401 | LAMA1 | c.3123C>A (p.Cys1041Ter) n.4138C>A c.1551C>A (p.Cys517Ter) | |
| 18 | g.7015726C>A | CA401850402 | LAMA1 | c.3122G>T (p.Cys1041Phe) n.4137G>T c.1550G>T (p.Cys517Phe) | |
| 18 | g.7015726C>G | CA401850403 | LAMA1 | c.3122G>C (p.Cys1041Ser) n.4137G>C c.1550G>C (p.Cys517Ser) | |
| 18 | g.7015726C>T | CA401850404 | LAMA1 | c.3122G>A (p.Cys1041Tyr) n.4137G>A c.1550G>A (p.Cys517Tyr) | |
| 18 | g.7015727A>C | CA401850405 | LAMA1 | c.3121T>G (p.Cys1041Gly) n.4136T>G c.1549T>G (p.Cys517Gly) | |
| 18 | g.7015727A>G | CA401850406 | LAMA1 | c.3121T>C (p.Cys1041Arg) n.4136T>C c.1549T>C (p.Cys517Arg) | gnomAD v4 |
| 18 | g.7015727A>T | CA401850407 | LAMA1 | c.3121T>A (p.Cys1041Ser) n.4136T>A c.1549T>A (p.Cys517Ser) | COSMIC |
| 18 | g.7015728C>A | CA502489973 | LAMA1 | c.3120G>T (p.Gly1040=) n.4135G>T c.1548G>T (p.Gly516=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015728C= | CA2282694596 | LAMA1 | c.3120G= (p.Gly1040=) n.4135G= c.1548G= (p.Gly516=) | |
| 18 | g.7015728C>G | CA502489975 | LAMA1 | c.3120G>C (p.Gly1040=) n.4135G>C c.1548G>C (p.Gly516=) | |
| 18 | g.7015728C>T | CA502489977 | LAMA1 | c.3120G>A (p.Gly1040=) n.4135G>A c.1548G>A (p.Gly516=) | gnomAD v4 |
| 18 | g.7015729C>A | CA401850409 | LAMA1 | c.3119G>T (p.Gly1040Val) n.4134G>T c.1547G>T (p.Gly516Val) | |
| 18 | g.7015729C= | CA2282694597 | LAMA1 | c.3119G= (p.Gly1040=) n.4134G= c.1547G= (p.Gly516=) | |
| 18 | g.7015729C>G | CA401850408 | LAMA1 | c.3119G>C (p.Gly1040Ala) n.4134G>C c.1547G>C (p.Gly516Ala) | |
| 18 | g.7015729C>T | CA8882398 | LAMA1 | c.3119G>A (p.Gly1040Glu) n.4134G>A c.1547G>A (p.Gly516Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015730C>A | CA401850410 | LAMA1 | c.3118G>T (p.Gly1040Trp) n.4133G>T c.1546G>T (p.Gly516Trp) | |
| 18 | g.7015730C>G | CA401850411 | LAMA1 | c.3118G>C (p.Gly1040Arg) n.4133G>C c.1546G>C (p.Gly516Arg) | |
| 18 | g.7015730C>T | CA401850412 | LAMA1 | c.3118G>A (p.Gly1040Arg) n.4133G>A c.1546G>A (p.Gly516Arg) | |
| 18 | g.7015731C>A | CA502489981 | LAMA1 | c.3117G>T (p.Val1039=) n.4132G>T c.1545G>T (p.Val515=) | |
| 18 | g.7015731C>G | CA502489982 | LAMA1 | c.3117G>C (p.Val1039=) n.4132G>C c.1545G>C (p.Val515=) | |
| 18 | g.7015731C>T | CA502489984 | LAMA1 | c.3117G>A (p.Val1039=) n.4132G>A c.1545G>A (p.Val515=) | gnomAD v4 |
| 18 | g.7015732A= | CA2282694598 | LAMA1 | c.3116T= (p.Val1039=) n.4131T= c.1544T= (p.Val515=) | |
| 18 | g.7015732A>C | CA401850413 | LAMA1 | c.3116T>G (p.Val1039Gly) n.4131T>G c.1544T>G (p.Val515Gly) | gnomAD v4 |
| 18 | g.7015732A>G | CA401850414 | LAMA1 | c.3116T>C (p.Val1039Ala) n.4131T>C c.1544T>C (p.Val515Ala) | dbSNP |
| 18 | g.7015732A>T | CA401850415 | LAMA1 | c.3116T>A (p.Val1039Glu) n.4131T>A c.1544T>A (p.Val515Glu) | |
| 18 | g.7015733C>A | CA401850416 | LAMA1 | c.3115G>T (p.Val1039Leu) n.4130G>T c.1543G>T (p.Val515Leu) | |
| 18 | g.7015733C>G | CA401850417 | LAMA1 | c.3115G>C (p.Val1039Leu) n.4130G>C c.1543G>C (p.Val515Leu) | |
| 18 | g.7015733C>T | CA401850418 | LAMA1 | c.3115G>A (p.Val1039Met) n.4130G>A c.1543G>A (p.Val515Met) | |
| 18 | g.7015734C>A | CA401850419 | LAMA1 | c.3114G>T (p.Glu1038Asp) n.4129G>T c.1542G>T (p.Glu514Asp) | |
| 18 | g.7015734C= | CA2282694599 | LAMA1 | c.3114G= (p.Glu1038=) n.4129G= c.1542G= (p.Glu514=) | |
| 18 | g.7015734C>G | CA401850420 | LAMA1 | c.3114G>C (p.Glu1038Asp) n.4129G>C c.1542G>C (p.Glu514Asp) | |
| 18 | g.7015734C>T | CA502489995 | LAMA1 | c.3114G>A (p.Glu1038=) n.4129G>A c.1542G>A (p.Glu514=) | dbSNP |
| 18 | g.7015735T>A | CA401850421 | LAMA1 | c.3113A>T (p.Glu1038Val) n.4128A>T c.1541A>T (p.Glu514Val) | |
| 18 | g.7015735T>C | CA401850422 | LAMA1 | c.3113A>G (p.Glu1038Gly) n.4128A>G c.1541A>G (p.Glu514Gly) | dbSNP |
| 18 | g.7015735T>G | CA401850423 | LAMA1 | c.3113A>C (p.Glu1038Ala) n.4128A>C c.1541A>C (p.Glu514Ala) | |
| 18 | g.7015735T= | CA2282694600 | LAMA1 | c.3113A= (p.Glu1038=) n.4128A= c.1541A= (p.Glu514=) | |
| 18 | g.7015736C>A | CA401850424 | LAMA1 | c.3112G>T (p.Glu1038Ter) n.4127G>T c.1540G>T (p.Glu514Ter) | |
| 18 | g.7015736C= | CA2282694601 | LAMA1 | c.3112G= (p.Glu1038=) n.4127G= c.1540G= (p.Glu514=) | |
| 18 | g.7015736C>G | CA401850425 | LAMA1 | c.3112G>C (p.Glu1038Gln) n.4127G>C c.1540G>C (p.Glu514Gln) | |
| 18 | g.7015736C>T | CA8882399 | LAMA1 | c.3112G>A (p.Glu1038Lys) n.4127G>A c.1540G>A (p.Glu514Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.7015737C>A | CA502490001 | LAMA1 | c.3111G>T (p.Ala1037=) n.4126G>T c.1539G>T (p.Ala513=) | |
| 18 | g.7015737C= | CA2282694602 | LAMA1 | c.3111G= (p.Ala1037=) n.4126G= c.1539G= (p.Ala513=) | |
| 18 | g.7015737C>G | CA502490006 | LAMA1 | c.3111G>C (p.Ala1037=) n.4126G>C c.1539G>C (p.Ala513=) | |
| 18 | g.7015737C>T | CA8882400 | LAMA1 | c.3111G>A (p.Ala1037=) n.4126G>A c.1539G>A (p.Ala513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015738G>A | CA8882401 | LAMA1 | c.3110C>T (p.Ala1037Val) n.4125C>T c.1538C>T (p.Ala513Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015738G>C | CA401850426 | LAMA1 | c.3110C>G (p.Ala1037Gly) n.4125C>G c.1538C>G (p.Ala513Gly) | |
| 18 | g.7015738G= | CA2282694603 | LAMA1 | c.3110C= (p.Ala1037=) n.4125C= c.1538C= (p.Ala513=) | |
| 18 | g.7015738G>T | CA401850427 | LAMA1 | c.3110C>A (p.Ala1037Glu) n.4125C>A c.1538C>A (p.Ala513Glu) | |
| 18 | g.7015739C>A | CA401850428 | LAMA1 | c.3109G>T (p.Ala1037Ser) n.4124G>T c.1537G>T (p.Ala513Ser) | |
| 18 | g.7015739C= | CA2282694604 | LAMA1 | c.3109G= (p.Ala1037=) n.4124G= c.1537G= (p.Ala513=) | |
| 18 | g.7015739C>G | CA401850429 | LAMA1 | c.3109G>C (p.Ala1037Pro) n.4124G>C c.1537G>C (p.Ala513Pro) | |
| 18 | g.7015739C>T | CA401850430 | LAMA1 | c.3109G>A (p.Ala1037Thr) n.4124G>A c.1537G>A (p.Ala513Thr) | dbSNP |
| 18 | g.7015740A= | CA2282694605 | LAMA1 | c.3108T= (p.Asp1036=) n.4123T= c.1536T= (p.Asp512=) | |
| 18 | g.7015740A>C | CA401850431 | LAMA1 | c.3108T>G (p.Asp1036Glu) n.4123T>G c.1536T>G (p.Asp512Glu) | |
| 18 | g.7015740A>G | CA502490020 | LAMA1 | c.3108T>C (p.Asp1036=) n.4123T>C c.1536T>C (p.Asp512=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015740A>T | CA401850432 | LAMA1 | c.3108T>A (p.Asp1036Glu) n.4123T>A c.1536T>A (p.Asp512Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015741T>A | CA8882402 | LAMA1 | c.3107A>T (p.Asp1036Val) n.4122A>T c.1535A>T (p.Asp512Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015741T>C | CA401850433 | LAMA1 | c.3107A>G (p.Asp1036Gly) n.4122A>G c.1535A>G (p.Asp512Gly) | dbSNP |
| 18 | g.7015741T>G | CA401850434 | LAMA1 | c.3107A>C (p.Asp1036Ala) n.4122A>C c.1535A>C (p.Asp512Ala) | |
| 18 | g.7015741T= | CA2282694606 | LAMA1 | c.3107A= (p.Asp1036=) n.4122A= c.1535A= (p.Asp512=) | |
| 18 | g.7015742C>A | CA401850436 | LAMA1 | c.3106G>T (p.Asp1036Tyr) n.4121G>T c.1534G>T (p.Asp512Tyr) | |
| 18 | g.7015742C= | CA2282694607 | LAMA1 | c.3106G= (p.Asp1036=) n.4121G= c.1534G= (p.Asp512=) | |
| 18 | g.7015742C>G | CA401850435 | LAMA1 | c.3106G>C (p.Asp1036His) n.4121G>C c.1534G>C (p.Asp512His) | |
| 18 | g.7015742C>T | CA8882403 | LAMA1 | c.3106G>A (p.Asp1036Asn) n.4121G>A c.1534G>A (p.Asp512Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015743G>A | CA8882404 | LAMA1 | c.3105C>T (p.Tyr1035=) n.4120C>T c.1533C>T (p.Tyr511=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015743G>C | CA401850437 | LAMA1 | c.3105C>G (p.Tyr1035Ter) n.4120C>G c.1533C>G (p.Tyr511Ter) | |
| 18 | g.7015743G= | CA2282694608 | LAMA1 | c.3105C= (p.Tyr1035=) n.4120C= c.1533C= (p.Tyr511=) | |
| 18 | g.7015743G>T | CA401850438 | LAMA1 | c.3105C>A (p.Tyr1035Ter) n.4120C>A c.1533C>A (p.Tyr511Ter) | |
| 18 | g.7015744T>A | CA401850439 | LAMA1 | c.3104A>T (p.Tyr1035Phe) n.4119A>T c.1532A>T (p.Tyr511Phe) | |
| 18 | g.7015744T>C | CA401850440 | LAMA1 | c.3104A>G (p.Tyr1035Cys) n.4119A>G c.1532A>G (p.Tyr511Cys) | gnomAD v4 |
| 18 | g.7015744T>G | CA401850441 | LAMA1 | c.3104A>C (p.Tyr1035Ser) n.4119A>C c.1532A>C (p.Tyr511Ser) | |
| 18 | g.7015745A= | CA2282694609 | LAMA1 | c.3103T= (p.Tyr1035=) n.4118T= c.1531T= (p.Tyr511=) | |
| 18 | g.7015745A>C | CA401850442 | LAMA1 | c.3103T>G (p.Tyr1035Asp) n.4118T>G c.1531T>G (p.Tyr511Asp) | |
| 18 | g.7015745A>G | CA401850443 | LAMA1 | c.3103T>C (p.Tyr1035His) n.4118T>C c.1531T>C (p.Tyr511His) | |
| 18 | g.7015745A>T | CA401850444 | LAMA1 | c.3103T>A (p.Tyr1035Asn) n.4118T>A c.1531T>A (p.Tyr511Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015746G>A | CA502490038 | LAMA1 | c.3102C>T (p.Gly1034=) n.4117C>T c.1530C>T (p.Gly510=) | |
| 18 | g.7015746G>C | CA502490039 | LAMA1 | c.3102C>G (p.Gly1034=) n.4117C>G c.1530C>G (p.Gly510=) | |
| 18 | g.7015746G>T | CA502490040 | LAMA1 | c.3102C>A (p.Gly1034=) n.4117C>A c.1530C>A (p.Gly510=) | |
| 18 | g.7015747C>A | CA8882405 | LAMA1 | c.3101G>T (p.Gly1034Val) n.4116G>T c.1529G>T (p.Gly510Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015747C= | CA2282694610 | LAMA1 | c.3101G= (p.Gly1034=) n.4116G= c.1529G= (p.Gly510=) | |
| 18 | g.7015747C>G | CA401850445 | LAMA1 | c.3101G>C (p.Gly1034Ala) n.4116G>C c.1529G>C (p.Gly510Ala) | |
| 18 | g.7015747C>T | CA8882406 | LAMA1 | c.3101G>A (p.Gly1034Asp) n.4116G>A c.1529G>A (p.Gly510Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015748C>A | CA401850446 | LAMA1 | c.3100G>T (p.Gly1034Cys) n.4115G>T c.1528G>T (p.Gly510Cys) | |
| 18 | g.7015748C>G | CA401850448 | LAMA1 | c.3100G>C (p.Gly1034Arg) n.4115G>C c.1528G>C (p.Gly510Arg) | |
| 18 | g.7015748C>T | CA401850447 | LAMA1 | c.3100G>A (p.Gly1034Ser) n.4115G>A c.1528G>A (p.Gly510Ser) | gnomAD v4 |
| 18 | g.7015749C>A | CA401850449 | LAMA1 | c.3099G>T (p.Trp1033Cys) n.4114G>T c.1527G>T (p.Trp509Cys) | |
| 18 | g.7015749C= | CA2282694611 | LAMA1 | c.3099G= (p.Trp1033=) n.4114G= c.1527G= (p.Trp509=) | |
| 18 | g.7015749C>G | CA401850450 | LAMA1 | c.3099G>C (p.Trp1033Cys) n.4114G>C c.1527G>C (p.Trp509Cys) | |
| 18 | g.7015749C>T | CA8882407 | LAMA1 | c.3099G>A (p.Trp1033Ter) n.4114G>A c.1527G>A (p.Trp509Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015750C>A | CA401850451 | LAMA1 | c.3098G>T (p.Trp1033Leu) n.4113G>T c.1526G>T (p.Trp509Leu) | |
| 18 | g.7015750C= | CA2282694612 | LAMA1 | c.3098G= (p.Trp1033=) n.4113G= c.1526G= (p.Trp509=) | |
| 18 | g.7015750C>G | CA401850453 | LAMA1 | c.3098G>C (p.Trp1033Ser) n.4113G>C c.1526G>C (p.Trp509Ser) | dbSNP gnomAD v2 |
| 18 | g.7015750C>T | CA401850452 | LAMA1 | c.3098G>A (p.Trp1033Ter) n.4113G>A c.1526G>A (p.Trp509Ter) | |
| 18 | g.7015751A>C | CA401850454 | LAMA1 | c.3097T>G (p.Trp1033Gly) n.4112T>G c.1525T>G (p.Trp509Gly) | |
| 18 | g.7015751A>G | CA401850455 | LAMA1 | c.3097T>C (p.Trp1033Arg) n.4112T>C c.1525T>C (p.Trp509Arg) | |
| 18 | g.7015751A>T | CA401850456 | LAMA1 | c.3097T>A (p.Trp1033Arg) n.4112T>A c.1525T>A (p.Trp509Arg) | |
| 18 | g.7015752G>A | CA502490066 | LAMA1 | c.3096C>T (p.His1032=) n.4111C>T c.1524C>T (p.His508=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.7015752G>C | CA401850457 | LAMA1 | c.3096C>G (p.His1032Gln) n.4111C>G c.1524C>G (p.His508Gln) | |
| 18 | g.7015752G= | CA2282694613 | LAMA1 | c.3096C= (p.His1032=) n.4111C= c.1524C= (p.His508=) | |
| 18 | g.7015752G>T | CA8882408 | LAMA1 | c.3096C>A (p.His1032Gln) n.4111C>A c.1524C>A (p.His508Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015753T>A | CA401850460 | LAMA1 | c.3095A>T (p.His1032Leu) n.4110A>T c.1523A>T (p.His508Leu) | |
| 18 | g.7015753T>C | CA401850459 | LAMA1 | c.3095A>G (p.His1032Arg) n.4110A>G c.1523A>G (p.His508Arg) | |
| 18 | g.7015753T>G | CA401850458 | LAMA1 | c.3095A>C (p.His1032Pro) n.4110A>C c.1523A>C (p.His508Pro) | |
| 18 | g.7015754G>A | CA8882409 | LAMA1 | c.3094C>T (p.His1032Tyr) n.4109C>T c.1522C>T (p.His508Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015754G>C | CA401850461 | LAMA1 | c.3094C>G (p.His1032Asp) n.4109C>G c.1522C>G (p.His508Asp) | |
| 18 | g.7015754G= | CA2282694614 | LAMA1 | c.3094C= (p.His1032=) n.4109C= c.1522C= (p.His508=) | |
| 18 | g.7015754G>T | CA401850462 | LAMA1 | c.3094C>A (p.His1032Asn) n.4109C>A c.1522C>A (p.His508Asn) | |
| 18 | g.7015755C>A | CA502490079 | LAMA1 | c.3093G>T (p.Gly1031=) n.4108G>T c.1521G>T (p.Gly507=) | |
| 18 | g.7015755C>G | CA502490080 | LAMA1 | c.3093G>C (p.Gly1031=) n.4108G>C c.1521G>C (p.Gly507=) | |
| 18 | g.7015755C>T | CA502490084 | LAMA1 | c.3093G>A (p.Gly1031=) n.4108G>A c.1521G>A (p.Gly507=) | |
| 18 | g.7015756C>A | CA401850463 | LAMA1 | c.3092G>T (p.Gly1031Val) n.4107G>T c.1520G>T (p.Gly507Val) | |
| 18 | g.7015756C>G | CA401850464 | LAMA1 | c.3092G>C (p.Gly1031Ala) n.4107G>C c.1520G>C (p.Gly507Ala) | |
| 18 | g.7015756C>T | CA401850465 | LAMA1 | c.3092G>A (p.Gly1031Glu) n.4107G>A c.1520G>A (p.Gly507Glu) | |
| 18 | g.7015757C>A | CA401850466 | LAMA1 | c.3091G>T (p.Gly1031Trp) n.4106G>T c.1519G>T (p.Gly507Trp) | |
| 18 | g.7015757C>G | CA401850468 | LAMA1 | c.3091G>C (p.Gly1031Arg) n.4106G>C c.1519G>C (p.Gly507Arg) | |
| 18 | g.7015757C>T | CA401850467 | LAMA1 | c.3091G>A (p.Gly1031Arg) n.4106G>A c.1519G>A (p.Gly507Arg) | COSMIC |
| 18 | g.7015758A>C | CA401850469 | LAMA1 | c.3090T>G (p.Asp1030Glu) n.4105T>G c.1518T>G (p.Asp506Glu) | |
| 18 | g.7015758A>G | CA502490093 | LAMA1 | c.3090T>C (p.Asp1030=) n.4105T>C c.1518T>C (p.Asp506=) | |
| 18 | g.7015758A>T | CA401850470 | LAMA1 | c.3090T>A (p.Asp1030Glu) n.4105T>A c.1518T>A (p.Asp506Glu) | |
| 18 | g.7015759T>A | CA401850471 | LAMA1 | c.3089A>T (p.Asp1030Val) n.4104A>T c.1517A>T (p.Asp506Val) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.7015759T>C | CA401850472 | LAMA1 | c.3089A>G (p.Asp1030Gly) n.4104A>G c.1517A>G (p.Asp506Gly) | |
| 18 | g.7015759T>G | CA401850473 | LAMA1 | c.3089A>C (p.Asp1030Ala) n.4104A>C c.1517A>C (p.Asp506Ala) | |
| 18 | g.7015759T= | CA2282694615 | LAMA1 | c.3089A= (p.Asp1030=) n.4104A= c.1517A= (p.Asp506=) | |
| 18 | g.7015760C>A | CA401850474 | LAMA1 | c.3088G>T (p.Asp1030Tyr) n.4103G>T c.1516G>T (p.Asp506Tyr) | COSMIC |
| 18 | g.7015760C= | CA2282694616 | LAMA1 | c.3088G= (p.Asp1030=) n.4103G= c.1516G= (p.Asp506=) | |
| 18 | g.7015760C>G | CA401850475 | LAMA1 | c.3088G>C (p.Asp1030His) n.4103G>C c.1516G>C (p.Asp506His) | |
| 18 | g.7015760C>T | CA401850476 | LAMA1 | c.3088G>A (p.Asp1030Asn) n.4103G>A c.1516G>A (p.Asp506Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.7015761C>A | CA401850477 | LAMA1 | c.3087G>T (p.Glu1029Asp) n.4102G>T c.1515G>T (p.Glu505Asp) | COSMIC |
| 18 | g.7015761C= | CA2282694617 | LAMA1 | c.3087G= (p.Glu1029=) n.4102G= c.1515G= (p.Glu505=) | |
| 18 | g.7015761C>G | CA401850478 | LAMA1 | c.3087G>C (p.Glu1029Asp) n.4102G>C c.1515G>C (p.Glu505Asp) | dbSNP gnomAD v2 |
| 18 | g.7015761C>T | CA502490105 | LAMA1 | c.3087G>A (p.Glu1029=) n.4102G>A c.1515G>A (p.Glu505=) | |
| 18 | g.7015762T>A | CA8882410 | LAMA1 | c.3086A>T (p.Glu1029Val) n.4101A>T c.1514A>T (p.Glu505Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015762T>C | CA401850480 | LAMA1 | c.3086A>G (p.Glu1029Gly) n.4101A>G c.1514A>G (p.Glu505Gly) | |
| 18 | g.7015762T>G | CA401850479 | LAMA1 | c.3086A>C (p.Glu1029Ala) n.4101A>C c.1514A>C (p.Glu505Ala) | gnomAD v4 |
| 18 | g.7015762T= | CA2282694618 | LAMA1 | c.3086A= (p.Glu1029=) n.4101A= c.1514A= (p.Glu505=) | |
| 18 | g.7015763C>A | CA401850481 | LAMA1 | c.3085G>T (p.Glu1029Ter) n.4100G>T c.1513G>T (p.Glu505Ter) | |
| 18 | g.7015763C>G | CA401850482 | LAMA1 | c.3085G>C (p.Glu1029Gln) n.4100G>C c.1513G>C (p.Glu505Gln) | |
| 18 | g.7015763C>T | CA401850483 | LAMA1 | c.3085G>A (p.Glu1029Lys) n.4100G>A c.1513G>A (p.Glu505Lys) | |
| 18 | g.7015764A>C | CA401850484 | LAMA1 | c.3084T>G (p.Cys1028Trp) n.4099T>G c.1512T>G (p.Cys504Trp) | |
| 18 | g.7015764A>G | CA502490113 | LAMA1 | c.3084T>C (p.Cys1028=) n.4099T>C c.1512T>C (p.Cys504=) | |
| 18 | g.7015764A>T | CA401850485 | LAMA1 | c.3084T>A (p.Cys1028Ter) n.4099T>A c.1512T>A (p.Cys504Ter) | |
| 18 | g.7015765C>A | CA401850486 | LAMA1 | c.3083G>T (p.Cys1028Phe) n.4098G>T c.1511G>T (p.Cys504Phe) | |
| 18 | g.7015765C>G | CA401850487 | LAMA1 | c.3083G>C (p.Cys1028Ser) n.4098G>C c.1511G>C (p.Cys504Ser) | |
| 18 | g.7015765C>T | CA401850488 | LAMA1 | c.3083G>A (p.Cys1028Tyr) n.4098G>A c.1511G>A (p.Cys504Tyr) | |
| 18 | g.7015766A= | CA2282694619 | LAMA1 | c.3082T= (p.Cys1028=) n.4097T= c.1510T= (p.Cys504=) | |
| 18 | g.7015766A>C | CA401850489 | LAMA1 | c.3082T>G (p.Cys1028Gly) n.4097T>G c.1510T>G (p.Cys504Gly) | |
| 18 | g.7015766A>G | CA401850490 | LAMA1 | c.3082T>C (p.Cys1028Arg) n.4097T>C c.1510T>C (p.Cys504Arg) | |
| 18 | g.7015766A>T | CA8882411 | LAMA1 | c.3082T>A (p.Cys1028Ser) n.4097T>A c.1510T>A (p.Cys504Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.7015767T>A | CA401850492 | LAMA1 | c.3081A>T (p.Glu1027Asp) n.4096A>T c.1509A>T (p.Glu503Asp) | |
| 18 | g.7015767T>C | CA502490122 | LAMA1 | c.3081A>G (p.Glu1027=) n.4096A>G c.1509A>G (p.Glu503=) | dbSNP |
| 18 | g.7015767T>G | CA401850491 | LAMA1 | c.3081A>C (p.Glu1027Asp) n.4096A>C c.1509A>C (p.Glu503Asp) | |
| 18 | g.7015767T= | CA2282694620 | LAMA1 | c.3081A= (p.Glu1027=) n.4096A= c.1509A= (p.Glu503=) | |
| 18 | g.7015768T>A | CA401850493 | LAMA1 | c.3080A>T (p.Glu1027Val) n.4095A>T c.1508A>T (p.Glu503Val) | |
| 18 | g.7015768T>C | CA401850494 | LAMA1 | c.3080A>G (p.Glu1027Gly) n.4095A>G c.1508A>G (p.Glu503Gly) | |
| 18 | g.7015768T>G | CA401850495 | LAMA1 | c.3080A>C (p.Glu1027Ala) n.4095A>C c.1508A>C (p.Glu503Ala) | |
| 18 | g.7015769C>A | CA401850496 | LAMA1 | c.3079G>T (p.Glu1027Ter) n.4094G>T c.1507G>T (p.Glu503Ter) | |
| 18 | g.7015769C>G | CA401850497 | LAMA1 | c.3079G>C (p.Glu1027Gln) n.4094G>C c.1507G>C (p.Glu503Gln) | |
| 18 | g.7015769C>T | CA401850498 | LAMA1 | c.3079G>A (p.Glu1027Lys) n.4094G>A c.1507G>A (p.Glu503Lys) | |
| 18 | g.7015770T>A | CA401850499 | LAMA1 | c.3078A>T (p.Glu1026Asp) n.4093A>T c.1506A>T (p.Glu502Asp) | |
| 18 | g.7015770T>C | CA502490134 | LAMA1 | c.3078A>G (p.Glu1026=) n.4093A>G c.1506A>G (p.Glu502=) | |
| 18 | g.7015770T>G | CA401850500 | LAMA1 | c.3078A>C (p.Glu1026Asp) n.4093A>C c.1506A>C (p.Glu502Asp) | |
| 18 | g.7015771T>A | CA401850501 | LAMA1 | c.3077A>T (p.Glu1026Val) n.4092A>T c.1505A>T (p.Glu502Val) | |
| 18 | g.7015771T>C | CA401850502 | LAMA1 | c.3077A>G (p.Glu1026Gly) n.4092A>G c.1505A>G (p.Glu502Gly) | gnomAD v4 |
| 18 | g.7015771T>G | CA401850503 | LAMA1 | c.3077A>C (p.Glu1026Ala) n.4092A>C c.1505A>C (p.Glu502Ala) | |
| 18 | g.7015772C>A | CA401850505 | LAMA1 | c.3076G>T (p.Glu1026Ter) n.4091G>T c.1504G>T (p.Glu502Ter) | |
| 18 | g.7015772C>G | CA401850506 | LAMA1 | c.3076G>C (p.Glu1026Gln) n.4091G>C c.1504G>C (p.Glu502Gln) | |
| 18 | g.7015772C>T | CA401850504 | LAMA1 | c.3076G>A (p.Glu1026Lys) n.4091G>A c.1504G>A (p.Glu502Lys) |