| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.129342387T>A | CA451925510 | LAMA2 | c.4356T>A (p.Ala1452=) c.4620T>A (p.Ala1540=) n.5T>A c.4626T>A (p.Ala1542=) c.2751T>A (p.Ala917=) | |
| 6 | g.129342387T>C | CA451925513 | LAMA2 | c.4356T>C (p.Ala1452=) c.4620T>C (p.Ala1540=) n.5T>C c.4626T>C (p.Ala1542=) c.2751T>C (p.Ala917=) | |
| 6 | g.129342387T>G | CA451925519 | LAMA2 | c.4356T>G (p.Ala1452=) c.4620T>G (p.Ala1540=) n.5T>G c.4626T>G (p.Ala1542=) c.2751T>G (p.Ala917=) | |
| 6 | g.129342388C>A | CA365615259 | LAMA2 | c.4357C>A (p.Leu1453Ile) c.4621C>A (p.Leu1541Ile) n.6C>A c.4627C>A (p.Leu1543Ile) c.2752C>A (p.Leu918Ile) | |
| 6 | g.129342388C= | CA1663123292 | LAMA2 | c.4357C= (p.Leu1453=) c.4621C= (p.Leu1541=) n.6C= c.4627C= (p.Leu1543=) c.2752C= (p.Leu918=) | |
| 6 | g.129342388C>G | CA365615260 | LAMA2 | c.4357C>G (p.Leu1453Val) c.4621C>G (p.Leu1541Val) n.6C>G c.4627C>G (p.Leu1543Val) c.2752C>G (p.Leu918Val) | |
| 6 | g.129342388C>T | CA365615262 | LAMA2 | c.4357C>T (p.Leu1453Phe) c.4621C>T (p.Leu1541Phe) n.6C>T c.4627C>T (p.Leu1543Phe) c.2752C>T (p.Leu918Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342389T>A | CA365615265 | LAMA2 | c.4358T>A (p.Leu1453His) c.4622T>A (p.Leu1541His) n.7T>A c.4628T>A (p.Leu1543His) c.2753T>A (p.Leu918His) | |
| 6 | g.129342389T>C | CA365615266 | LAMA2 | c.4358T>C (p.Leu1453Pro) c.4622T>C (p.Leu1541Pro) n.7T>C c.4628T>C (p.Leu1543Pro) c.2753T>C (p.Leu918Pro) | |
| 6 | g.129342389T>G | CA365615268 | LAMA2 | c.4358T>G (p.Leu1453Arg) c.4622T>G (p.Leu1541Arg) n.7T>G c.4628T>G (p.Leu1543Arg) c.2753T>G (p.Leu918Arg) | |
| 6 | g.129342390T>A | CA451925525 | LAMA2 | c.4359T>A (p.Leu1453=) c.4623T>A (p.Leu1541=) n.8T>A c.4629T>A (p.Leu1543=) c.2754T>A (p.Leu918=) | |
| 6 | g.129342390T>C | CA451925527 | LAMA2 | c.4359T>C (p.Leu1453=) c.4623T>C (p.Leu1541=) n.8T>C c.4629T>C (p.Leu1543=) c.2754T>C (p.Leu918=) | |
| 6 | g.129342390T>G | CA451925526 | LAMA2 | c.4359T>G (p.Leu1453=) c.4623T>G (p.Leu1541=) n.8T>G c.4629T>G (p.Leu1543=) c.2754T>G (p.Leu918=) | |
| 6 | g.129342391G>A | CA365615274 | LAMA2 | c.4360G>A (p.Gly1454Arg) c.4624G>A (p.Gly1542Arg) n.9G>A c.4630G>A (p.Gly1544Arg) c.2755G>A (p.Gly919Arg) | |
| 6 | g.129342391G>C | CA365615270 | LAMA2 | c.4360G>C (p.Gly1454Arg) c.4624G>C (p.Gly1542Arg) n.9G>C c.4630G>C (p.Gly1544Arg) c.2755G>C (p.Gly919Arg) | |
| 6 | g.129342391G>T | CA365615272 | LAMA2 | c.4360G>T (p.Gly1454Ter) c.4624G>T (p.Gly1542Ter) n.9G>T c.4630G>T (p.Gly1544Ter) c.2755G>T (p.Gly919Ter) | |
| 6 | g.129342392G>A | CA365615276 | LAMA2 | c.4361G>A (p.Gly1454Glu) c.4625G>A (p.Gly1542Glu) n.10G>A c.4631G>A (p.Gly1544Glu) c.2756G>A (p.Gly919Glu) | |
| 6 | g.129342392G>C | CA365615278 | LAMA2 | c.4361G>C (p.Gly1454Ala) c.4625G>C (p.Gly1542Ala) n.10G>C c.4631G>C (p.Gly1544Ala) c.2756G>C (p.Gly919Ala) | |
| 6 | g.129342392G>T | CA365615280 | LAMA2 | c.4361G>T (p.Gly1454Val) c.4625G>T (p.Gly1542Val) n.10G>T c.4631G>T (p.Gly1544Val) c.2756G>T (p.Gly919Val) | |
| 6 | g.129342393A= | CA1663123298 | LAMA2 | c.4362A= (p.Gly1454=) c.4626A= (p.Gly1542=) n.11A= c.4632A= (p.Gly1544=) c.2757A= (p.Gly919=) | |
| 6 | g.129342393A>C | CA451925536 | LAMA2 | c.4362A>C (p.Gly1454=) c.4626A>C (p.Gly1542=) n.11A>C c.4632A>C (p.Gly1544=) c.2757A>C (p.Gly919=) | |
| 6 | g.129342393A>G | CA451925537 | LAMA2 | c.4362A>G (p.Gly1454=) c.4626A>G (p.Gly1542=) n.11A>G c.4632A>G (p.Gly1544=) c.2757A>G (p.Gly919=) | dbSNP gnomAD v2 |
| 6 | g.129342393A>T | CA451925538 | LAMA2 | c.4362A>T (p.Gly1454=) c.4626A>T (p.Gly1542=) n.11A>T c.4632A>T (p.Gly1544=) c.2757A>T (p.Gly919=) | |
| 6 | g.129342394T>A | CA365615281 | LAMA2 | c.4363T>A (p.Tyr1455Asn) c.4627T>A (p.Tyr1543Asn) n.12T>A c.4633T>A (p.Tyr1545Asn) c.2758T>A (p.Tyr920Asn) | |
| 6 | g.129342394T>C | CA365615282 | LAMA2 | c.4363T>C (p.Tyr1455His) c.4627T>C (p.Tyr1543His) n.12T>C c.4633T>C (p.Tyr1545His) c.2758T>C (p.Tyr920His) | |
| 6 | g.129342394T>G | CA365615283 | LAMA2 | c.4363T>G (p.Tyr1455Asp) c.4627T>G (p.Tyr1543Asp) n.12T>G c.4633T>G (p.Tyr1545Asp) c.2758T>G (p.Tyr920Asp) | |
| 6 | g.129342395A>C | CA365615288 | LAMA2 | c.4364A>C (p.Tyr1455Ser) c.4628A>C (p.Tyr1543Ser) n.13A>C c.4634A>C (p.Tyr1545Ser) c.2759A>C (p.Tyr920Ser) | |
| 6 | g.129342395A>G | CA365615286 | LAMA2 | c.4364A>G (p.Tyr1455Cys) c.4628A>G (p.Tyr1543Cys) n.13A>G c.4634A>G (p.Tyr1545Cys) c.2759A>G (p.Tyr920Cys) | |
| 6 | g.129342395A>T | CA365615287 | LAMA2 | c.4364A>T (p.Tyr1455Phe) c.4628A>T (p.Tyr1543Phe) n.13A>T c.4634A>T (p.Tyr1545Phe) c.2759A>T (p.Tyr920Phe) | |
| 6 | g.129342396C>A | CA365615291 | LAMA2 | c.4365C>A (p.Tyr1455Ter) c.4629C>A (p.Tyr1543Ter) n.14C>A c.4635C>A (p.Tyr1545Ter) c.2760C>A (p.Tyr920Ter) | |
| 6 | g.129342396C= | CA1663123304 | LAMA2 | c.4365C= (p.Tyr1455=) c.4629C= (p.Tyr1543=) n.14C= c.4635C= (p.Tyr1545=) c.2760C= (p.Tyr920=) | |
| 6 | g.129342396C>G | CA365615292 | LAMA2 | c.4365C>G (p.Tyr1455Ter) c.4629C>G (p.Tyr1543Ter) n.14C>G c.4635C>G (p.Tyr1545Ter) c.2760C>G (p.Tyr920Ter) | ClinVar gnomAD v4 |
| 6 | g.129342396C>T | CA451925556 | LAMA2 | c.4365C>T (p.Tyr1455=) c.4629C>T (p.Tyr1543=) n.14C>T c.4635C>T (p.Tyr1545=) c.2760C>T (p.Tyr920=) | ClinVar dbSNP |
| 6 | g.129342397T>A | CA365615294 | LAMA2 | c.4366T>A (p.Tyr1456Asn) c.4630T>A (p.Tyr1544Asn) n.15T>A c.4636T>A (p.Tyr1546Asn) c.2761T>A (p.Tyr921Asn) | |
| 6 | g.129342397T>C | CA3993527 | LAMA2 | c.4366T>C (p.Tyr1456His) c.4630T>C (p.Tyr1544His) n.15T>C c.4636T>C (p.Tyr1546His) c.2761T>C (p.Tyr921His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342397T>G | CA365615296 | LAMA2 | c.4366T>G (p.Tyr1456Asp) c.4630T>G (p.Tyr1544Asp) n.15T>G c.4636T>G (p.Tyr1546Asp) c.2761T>G (p.Tyr921Asp) | |
| 6 | g.129342397T= | CA1663123312 | LAMA2 | c.4366T= (p.Tyr1456=) c.4630T= (p.Tyr1544=) n.15T= c.4636T= (p.Tyr1546=) c.2761T= (p.Tyr921=) | |
| 6 | g.129342397_129342401del | CA2573140605 | LAMA2 | c.4366_4370del (p.Tyr1456AsnfsTer8) c.4630_4634del (p.Tyr1544AsnfsTer8) n.15_19del c.4636_4640del (p.Tyr1546AsnfsTer8) c.2761_2765del (p.Tyr921AsnfsTer8) | ClinVar dbSNP |
| 6 | g.129342398A= | CA1663123317 | LAMA2 | c.4367A= (p.Tyr1456=) c.4631A= (p.Tyr1544=) n.16A= c.4637A= (p.Tyr1546=) c.2762A= (p.Tyr921=) | |
| 6 | g.129342398A>C | CA365615298 | LAMA2 | c.4367A>C (p.Tyr1456Ser) c.4631A>C (p.Tyr1544Ser) n.16A>C c.4637A>C (p.Tyr1546Ser) c.2762A>C (p.Tyr921Ser) | |
| 6 | g.129342398A>G | CA365615302 | LAMA2 | c.4367A>G (p.Tyr1456Cys) c.4631A>G (p.Tyr1544Cys) n.16A>G c.4637A>G (p.Tyr1546Cys) c.2762A>G (p.Tyr921Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129342398A>T | CA365615300 | LAMA2 | c.4367A>T (p.Tyr1456Phe) c.4631A>T (p.Tyr1544Phe) n.16A>T c.4637A>T (p.Tyr1546Phe) c.2762A>T (p.Tyr921Phe) | |
| 6 | g.129342399T>A | CA365615304 | LAMA2 | c.4368T>A (p.Tyr1456Ter) c.4632T>A (p.Tyr1544Ter) n.17T>A c.4638T>A (p.Tyr1546Ter) c.2763T>A (p.Tyr921Ter) | ClinVar dbSNP |
| 6 | g.129342399T>C | CA3993528 | LAMA2 | c.4368T>C (p.Tyr1456=) c.4632T>C (p.Tyr1544=) n.17T>C c.4638T>C (p.Tyr1546=) c.2763T>C (p.Tyr921=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342399T>G | CA365615307 | LAMA2 | c.4368T>G (p.Tyr1456Ter) c.4632T>G (p.Tyr1544Ter) n.17T>G c.4638T>G (p.Tyr1546Ter) c.2763T>G (p.Tyr921Ter) | |
| 6 | g.129342399T= | CA1663123323 | LAMA2 | c.4368T= (p.Tyr1456=) c.4632T= (p.Tyr1544=) n.17T= c.4638T= (p.Tyr1546=) c.2763T= (p.Tyr921=) | |
| 6 | g.129342400G>A | CA365615308 | LAMA2 | c.4369G>A (p.Gly1457Arg) c.4633G>A (p.Gly1545Arg) n.18G>A c.4639G>A (p.Gly1547Arg) c.2764G>A (p.Gly922Arg) | gnomAD v4 COSMIC |
| 6 | g.129342400G>C | CA365615311 | LAMA2 | c.4369G>C (p.Gly1457Arg) c.4633G>C (p.Gly1545Arg) n.18G>C c.4639G>C (p.Gly1547Arg) c.2764G>C (p.Gly922Arg) | |
| 6 | g.129342400G>T | CA365615312 | LAMA2 | c.4369G>T (p.Gly1457Ter) c.4633G>T (p.Gly1545Ter) n.18G>T c.4639G>T (p.Gly1547Ter) c.2764G>T (p.Gly922Ter) | |
| 6 | g.129342401G>A | CA365615314 | LAMA2 | c.4370G>A (p.Gly1457Glu) c.4634G>A (p.Gly1545Glu) n.19G>A c.4640G>A (p.Gly1547Glu) c.2765G>A (p.Gly922Glu) | gnomAD v4 COSMIC |
| 6 | g.129342401G>C | CA365615316 | LAMA2 | c.4370G>C (p.Gly1457Ala) c.4634G>C (p.Gly1545Ala) n.19G>C c.4640G>C (p.Gly1547Ala) c.2765G>C (p.Gly922Ala) | |
| 6 | g.129342401G>T | CA365615317 | LAMA2 | c.4370G>T (p.Gly1457Val) c.4634G>T (p.Gly1545Val) n.19G>T c.4640G>T (p.Gly1547Val) c.2765G>T (p.Gly922Val) | |
| 6 | g.129342402A>C | CA451925577 | LAMA2 | c.4371A>C (p.Gly1457=) c.4635A>C (p.Gly1545=) n.20A>C c.4641A>C (p.Gly1547=) c.2766A>C (p.Gly922=) | |
| 6 | g.129342402A>G | CA451925591 | LAMA2 | c.4371A>G (p.Gly1457=) c.4635A>G (p.Gly1545=) n.20A>G c.4641A>G (p.Gly1547=) c.2766A>G (p.Gly922=) | ClinVar |
| 6 | g.129342402A>T | CA451925582 | LAMA2 | c.4371A>T (p.Gly1457=) c.4635A>T (p.Gly1545=) n.20A>T c.4641A>T (p.Gly1547=) c.2766A>T (p.Gly922=) | |
| 6 | g.129342403A= | CA1663123328 | LAMA2 | c.4372A= (p.Ile1458=) c.4636A= (p.Ile1546=) n.21A= c.4642A= (p.Ile1548=) c.2767A= (p.Ile923=) | |
| 6 | g.129342403A>C | CA365615319 | LAMA2 | c.4372A>C (p.Ile1458Leu) c.4636A>C (p.Ile1546Leu) n.21A>C c.4642A>C (p.Ile1548Leu) c.2767A>C (p.Ile923Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342403A>G | CA365615321 | LAMA2 | c.4372A>G (p.Ile1458Val) c.4636A>G (p.Ile1546Val) n.21A>G c.4642A>G (p.Ile1548Val) c.2767A>G (p.Ile923Val) | |
| 6 | g.129342403A>T | CA365615323 | LAMA2 | c.4372A>T (p.Ile1458Phe) c.4636A>T (p.Ile1546Phe) n.21A>T c.4642A>T (p.Ile1548Phe) c.2767A>T (p.Ile923Phe) | |
| 6 | g.129342404T>A | CA365615327 | LAMA2 | c.4373T>A (p.Ile1458Asn) c.4637T>A (p.Ile1546Asn) n.22T>A c.4643T>A (p.Ile1548Asn) c.2768T>A (p.Ile923Asn) | |
| 6 | g.129342404T>C | CA365615329 | LAMA2 | c.4373T>C (p.Ile1458Thr) c.4637T>C (p.Ile1546Thr) n.22T>C c.4643T>C (p.Ile1548Thr) c.2768T>C (p.Ile923Thr) | gnomAD v4 |
| 6 | g.129342404T>G | CA365615325 | LAMA2 | c.4373T>G (p.Ile1458Ser) c.4637T>G (p.Ile1546Ser) n.22T>G c.4643T>G (p.Ile1548Ser) c.2768T>G (p.Ile923Ser) | |
| 6 | g.129342405T>A | CA451925602 | LAMA2 | c.4374T>A (p.Ile1458=) c.4638T>A (p.Ile1546=) n.23T>A c.4644T>A (p.Ile1548=) c.2769T>A (p.Ile923=) | ClinVar |
| 6 | g.129342405T>C | CA451925607 | LAMA2 | c.4374T>C (p.Ile1458=) c.4638T>C (p.Ile1546=) n.23T>C c.4644T>C (p.Ile1548=) c.2769T>C (p.Ile923=) | |
| 6 | g.129342405T>G | CA365615330 | LAMA2 | c.4374T>G (p.Ile1458Met) c.4638T>G (p.Ile1546Met) n.23T>G c.4644T>G (p.Ile1548Met) c.2769T>G (p.Ile923Met) | dbSNP gnomAD v2 |
| 6 | g.129342405T= | CA1663123335 | LAMA2 | c.4374T= (p.Ile1458=) c.4638T= (p.Ile1546=) n.23T= c.4644T= (p.Ile1548=) c.2769T= (p.Ile923=) | |
| 6 | g.129342406del | CA2695206991 | LAMA2 | c.4375del (p.Val1459SerfsTer15) c.4639del (p.Val1547SerfsTer15) n.24del c.4645del (p.Val1549SerfsTer15) c.2770del (p.Val924SerfsTer15) | |
| 6 | g.129342406G>A | CA365615332 | LAMA2 | c.4375G>A (p.Val1459Ile) c.4639G>A (p.Val1547Ile) n.24G>A c.4645G>A (p.Val1549Ile) c.2770G>A (p.Val924Ile) | dbSNP gnomAD v4 |
| 6 | g.129342406G>C | CA365615334 | LAMA2 | c.4375G>C (p.Val1459Leu) c.4639G>C (p.Val1547Leu) n.24G>C c.4645G>C (p.Val1549Leu) c.2770G>C (p.Val924Leu) | |
| 6 | g.129342406G= | CA1663123344 | LAMA2 | c.4375G= (p.Val1459=) c.4639G= (p.Val1547=) n.24G= c.4645G= (p.Val1549=) c.2770G= (p.Val924=) | |
| 6 | g.129342406G>T | CA365615336 | LAMA2 | c.4375G>T (p.Val1459Phe) c.4639G>T (p.Val1547Phe) n.24G>T c.4645G>T (p.Val1549Phe) c.2770G>T (p.Val924Phe) | |
| 6 | g.129342407T>A | CA365615341 | LAMA2 | c.4376T>A (p.Val1459Asp) c.4640T>A (p.Val1547Asp) n.25T>A c.4646T>A (p.Val1549Asp) c.2771T>A (p.Val924Asp) | |
| 6 | g.129342407T>C | CA365615340 | LAMA2 | c.4376T>C (p.Val1459Ala) c.4640T>C (p.Val1547Ala) n.25T>C c.4646T>C (p.Val1549Ala) c.2771T>C (p.Val924Ala) | |
| 6 | g.129342407T>G | CA365615339 | LAMA2 | c.4376T>G (p.Val1459Gly) c.4640T>G (p.Val1547Gly) n.25T>G c.4646T>G (p.Val1549Gly) c.2771T>G (p.Val924Gly) | |
| 6 | g.129342408C>A | CA451925619 | LAMA2 | c.4377C>A (p.Val1459=) c.4641C>A (p.Val1547=) n.26C>A c.4647C>A (p.Val1549=) c.2772C>A (p.Val924=) | |
| 6 | g.129342408C>G | CA451925621 | LAMA2 | c.4377C>G (p.Val1459=) c.4641C>G (p.Val1547=) n.26C>G c.4647C>G (p.Val1549=) c.2772C>G (p.Val924=) | |
| 6 | g.129342408C>T | CA451925622 | LAMA2 | c.4377C>T (p.Val1459=) c.4641C>T (p.Val1547=) n.26C>T c.4647C>T (p.Val1549=) c.2772C>T (p.Val924=) | gnomAD v4 |
| 6 | g.129342409A= | CA1663123349 | LAMA2 | c.4378A= (p.Lys1460=) c.4642A= (p.Lys1548=) n.27A= c.4648A= (p.Lys1550=) c.2773A= (p.Lys925=) | |
| 6 | g.129342409A>C | CA365615344 | LAMA2 | c.4378A>C (p.Lys1460Gln) c.4642A>C (p.Lys1548Gln) n.27A>C c.4648A>C (p.Lys1550Gln) c.2773A>C (p.Lys925Gln) | |
| 6 | g.129342409A>G | CA365615346 | LAMA2 | c.4378A>G (p.Lys1460Glu) c.4642A>G (p.Lys1548Glu) n.27A>G c.4648A>G (p.Lys1550Glu) c.2773A>G (p.Lys925Glu) | |
| 6 | g.129342409A>T | CA365615347 | LAMA2 | c.4378A>T (p.Lys1460Ter) c.4642A>T (p.Lys1548Ter) n.27A>T c.4648A>T (p.Lys1550Ter) c.2773A>T (p.Lys925Ter) | ClinVar dbSNP |
| 6 | g.129342410del | CA2580615766 | LAMA2 | c.4379del (p.Lys1460ArgfsTer14) c.4643del (p.Lys1548ArgfsTer14) n.28del c.4649del (p.Lys1550ArgfsTer14) c.2774del (p.Lys925ArgfsTer14) | ClinVar |
| 6 | g.129342410A= | CA1663123357 | LAMA2 | c.4379A= (p.Lys1460=) c.4643A= (p.Lys1548=) n.28A= c.4649A= (p.Lys1550=) c.2774A= (p.Lys925=) | |
| 6 | g.129342410A>C | CA365615350 | LAMA2 | c.4379A>C (p.Lys1460Thr) c.4643A>C (p.Lys1548Thr) n.28A>C c.4649A>C (p.Lys1550Thr) c.2774A>C (p.Lys925Thr) | dbSNP |
| 6 | g.129342410A>G | CA365615352 | LAMA2 | c.4379A>G (p.Lys1460Arg) c.4643A>G (p.Lys1548Arg) n.28A>G c.4649A>G (p.Lys1550Arg) c.2774A>G (p.Lys925Arg) | |
| 6 | g.129342410A>T | CA365615353 | LAMA2 | c.4379A>T (p.Lys1460Met) c.4643A>T (p.Lys1548Met) n.28A>T c.4649A>T (p.Lys1550Met) c.2774A>T (p.Lys925Met) | |
| 6 | g.129342411G>A | CA3993529 | LAMA2 | c.4380G>A (p.Lys1460=) c.4644G>A (p.Lys1548=) n.29G>A c.4650G>A (p.Lys1550=) c.2775G>A (p.Lys925=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.129342411G>C | CA365615356 | LAMA2 | c.4380G>C (p.Lys1460Asn) c.4644G>C (p.Lys1548Asn) n.29G>C c.4650G>C (p.Lys1550Asn) c.2775G>C (p.Lys925Asn) | |
| 6 | g.129342411G= | CA1663123360 | LAMA2 | c.4380G= (p.Lys1460=) c.4644G= (p.Lys1548=) n.29G= c.4650G= (p.Lys1550=) c.2775G= (p.Lys925=) | |
| 6 | g.129342411G>T | CA365615354 | LAMA2 | c.4380G>T (p.Lys1460Asn) c.4644G>T (p.Lys1548Asn) n.29G>T c.4650G>T (p.Lys1550Asn) c.2775G>T (p.Lys925Asn) | COSMIC |
| 6 | g.129342412G>A | CA365615358 | LAMA2 | c.4381G>A (p.Gly1461Arg) c.4645G>A (p.Gly1549Arg) n.30G>A c.4651G>A (p.Gly1551Arg) c.2776G>A (p.Gly926Arg) | dbSNP |
| 6 | g.129342412G>C | CA365615362 | LAMA2 | c.4381G>C (p.Gly1461Arg) c.4645G>C (p.Gly1549Arg) n.30G>C c.4651G>C (p.Gly1551Arg) c.2776G>C (p.Gly926Arg) | |
| 6 | g.129342412G= | CA1663123368 | LAMA2 | c.4381G= (p.Gly1461=) c.4645G= (p.Gly1549=) n.30G= c.4651G= (p.Gly1551=) c.2776G= (p.Gly926=) | |
| 6 | g.129342412G>T | CA365615360 | LAMA2 | c.4381G>T (p.Gly1461Ter) c.4645G>T (p.Gly1549Ter) n.30G>T c.4651G>T (p.Gly1551Ter) c.2776G>T (p.Gly926Ter) | COSMIC |
| 6 | g.129342413G>A | CA365615364 | LAMA2 | c.4382G>A (p.Gly1461Glu) c.4646G>A (p.Gly1549Glu) n.31G>A c.4652G>A (p.Gly1551Glu) c.2777G>A (p.Gly926Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342413G>C | CA365615365 | LAMA2 | c.4382G>C (p.Gly1461Ala) c.4646G>C (p.Gly1549Ala) n.31G>C c.4652G>C (p.Gly1551Ala) c.2777G>C (p.Gly926Ala) | |
| 6 | g.129342413G= | CA1663123372 | LAMA2 | c.4382G= (p.Gly1461=) c.4646G= (p.Gly1549=) n.31G= c.4652G= (p.Gly1551=) c.2777G= (p.Gly926=) | |
| 6 | g.129342413G>T | CA365615367 | LAMA2 | c.4382G>T (p.Gly1461Val) c.4646G>T (p.Gly1549Val) n.31G>T c.4652G>T (p.Gly1551Val) c.2777G>T (p.Gly926Val) | gnomAD v4 |
| 6 | g.129342414A= | CA1663123378 | LAMA2 | c.4383A= (p.Gly1461=) c.4647A= (p.Gly1549=) n.32A= c.4653A= (p.Gly1551=) c.2778A= (p.Gly926=) | |
| 6 | g.129342414A>C | CA451925655 | LAMA2 | c.4383A>C (p.Gly1461=) c.4647A>C (p.Gly1549=) n.32A>C c.4653A>C (p.Gly1551=) c.2778A>C (p.Gly926=) | |
| 6 | g.129342414A>G | CA3993530 | LAMA2 | c.4383A>G (p.Gly1461=) c.4647A>G (p.Gly1549=) n.32A>G c.4653A>G (p.Gly1551=) c.2778A>G (p.Gly926=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342414A>T | CA451925663 | LAMA2 | c.4383A>T (p.Gly1461=) c.4647A>T (p.Gly1549=) n.32A>T c.4653A>T (p.Gly1551=) c.2778A>T (p.Gly926=) | |
| 6 | g.129342415T>A | CA365615370 | LAMA2 | c.4384T>A (p.Leu1462Met) c.4648T>A (p.Leu1550Met) n.33T>A c.4654T>A (p.Leu1552Met) c.2779T>A (p.Leu927Met) | |
| 6 | g.129342415T>C | CA451925668 | LAMA2 | c.4384T>C (p.Leu1462=) c.4648T>C (p.Leu1550=) n.33T>C c.4654T>C (p.Leu1552=) c.2779T>C (p.Leu927=) | |
| 6 | g.129342415T>G | CA365615372 | LAMA2 | c.4384T>G (p.Leu1462Val) c.4648T>G (p.Leu1550Val) n.33T>G c.4654T>G (p.Leu1552Val) c.2779T>G (p.Leu927Val) | |
| 6 | g.129342416T>A | CA365615374 | LAMA2 | c.4385T>A (p.Leu1462Ter) c.4649T>A (p.Leu1550Ter) n.34T>A c.4655T>A (p.Leu1552Ter) c.2780T>A (p.Leu927Ter) | |
| 6 | g.129342416T>C | CA365615376 | LAMA2 | c.4385T>C (p.Leu1462Ser) c.4649T>C (p.Leu1550Ser) n.34T>C c.4655T>C (p.Leu1552Ser) c.2780T>C (p.Leu927Ser) | |
| 6 | g.129342416T>G | CA365615377 | LAMA2 | c.4385T>G (p.Leu1462Trp) c.4649T>G (p.Leu1550Trp) n.34T>G c.4655T>G (p.Leu1552Trp) c.2780T>G (p.Leu927Trp) | |
| 6 | g.129342417G>A | CA451925675 | LAMA2 | c.4386G>A (p.Leu1462=) c.4650G>A (p.Leu1550=) n.35G>A c.4656G>A (p.Leu1552=) c.2781G>A (p.Leu927=) | |
| 6 | g.129342417G>C | CA365615379 | LAMA2 | c.4386G>C (p.Leu1462Phe) c.4650G>C (p.Leu1550Phe) n.35G>C c.4656G>C (p.Leu1552Phe) c.2781G>C (p.Leu927Phe) | |
| 6 | g.129342417G>T | CA365615381 | LAMA2 | c.4386G>T (p.Leu1462Phe) c.4650G>T (p.Leu1550Phe) n.35G>T c.4656G>T (p.Leu1552Phe) c.2781G>T (p.Leu927Phe) | |
| 6 | g.129342418C>A | CA3993531 | LAMA2 | c.4387C>A (p.Pro1463Thr) c.4651C>A (p.Pro1551Thr) n.36C>A c.4657C>A (p.Pro1553Thr) c.2782C>A (p.Pro928Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342418C= | CA1663123382 | LAMA2 | c.4387C= (p.Pro1463=) c.4651C= (p.Pro1551=) n.36C= c.4657C= (p.Pro1553=) c.2782C= (p.Pro928=) | |
| 6 | g.129342418C>G | CA365615383 | LAMA2 | c.4387C>G (p.Pro1463Ala) c.4651C>G (p.Pro1551Ala) n.36C>G c.4657C>G (p.Pro1553Ala) c.2782C>G (p.Pro928Ala) | |
| 6 | g.129342418C>T | CA365615385 | LAMA2 | c.4387C>T (p.Pro1463Ser) c.4651C>T (p.Pro1551Ser) n.36C>T c.4657C>T (p.Pro1553Ser) c.2782C>T (p.Pro928Ser) | |
| 6 | g.129342419C>A | CA365615388 | LAMA2 | c.4388C>A (p.Pro1463Gln) c.4652C>A (p.Pro1551Gln) n.37C>A c.4658C>A (p.Pro1553Gln) c.2783C>A (p.Pro928Gln) | gnomAD v4 |
| 6 | g.129342419C>G | CA365615390 | LAMA2 | c.4388C>G (p.Pro1463Arg) c.4652C>G (p.Pro1551Arg) n.37C>G c.4658C>G (p.Pro1553Arg) c.2783C>G (p.Pro928Arg) | |
| 6 | g.129342419C>T | CA365615392 | LAMA2 | c.4388C>T (p.Pro1463Leu) c.4652C>T (p.Pro1551Leu) n.37C>T c.4658C>T (p.Pro1553Leu) c.2783C>T (p.Pro928Leu) | |
| 6 | g.129342420A>C | CA451925689 | LAMA2 | c.4389A>C (p.Pro1463=) c.4653A>C (p.Pro1551=) n.38A>C c.4659A>C (p.Pro1553=) c.2784A>C (p.Pro928=) | |
| 6 | g.129342420A>G | CA451925694 | LAMA2 | c.4389A>G (p.Pro1463=) c.4653A>G (p.Pro1551=) n.38A>G c.4659A>G (p.Pro1553=) c.2784A>G (p.Pro928=) | |
| 6 | g.129342420A>T | CA451925698 | LAMA2 | c.4389A>T (p.Pro1463=) c.4653A>T (p.Pro1551=) n.38A>T c.4659A>T (p.Pro1553=) c.2784A>T (p.Pro928=) | |
| 6 | g.129342421A>C | CA365615394 | LAMA2 | c.4390A>C (p.Asn1464His) c.4654A>C (p.Asn1552His) n.39A>C c.4660A>C (p.Asn1554His) c.2785A>C (p.Asn929His) | gnomAD v4 |
| 6 | g.129342421A>G | CA365615396 | LAMA2 | c.4390A>G (p.Asn1464Asp) c.4654A>G (p.Asn1552Asp) n.39A>G c.4660A>G (p.Asn1554Asp) c.2785A>G (p.Asn929Asp) | |
| 6 | g.129342421A>T | CA365615398 | LAMA2 | c.4390A>T (p.Asn1464Tyr) c.4654A>T (p.Asn1552Tyr) n.39A>T c.4660A>T (p.Asn1554Tyr) c.2785A>T (p.Asn929Tyr) | |
| 6 | g.129342422A= | CA1663123389 | LAMA2 | c.4391A= (p.Asn1464=) c.4655A= (p.Asn1552=) n.40A= c.4661A= (p.Asn1554=) c.2786A= (p.Asn929=) | |
| 6 | g.129342422A>C | CA365615400 | LAMA2 | c.4391A>C (p.Asn1464Thr) c.4655A>C (p.Asn1552Thr) n.40A>C c.4661A>C (p.Asn1554Thr) c.2786A>C (p.Asn929Thr) | |
| 6 | g.129342422A>G | CA3993532 | LAMA2 | c.4391A>G (p.Asn1464Ser) c.4655A>G (p.Asn1552Ser) n.40A>G c.4661A>G (p.Asn1554Ser) c.2786A>G (p.Asn929Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342422A>T | CA365615403 | LAMA2 | c.4391A>T (p.Asn1464Ile) c.4655A>T (p.Asn1552Ile) n.40A>T c.4661A>T (p.Asn1554Ile) c.2786A>T (p.Asn929Ile) | |
| 6 | g.129342423T>A | CA365615405 | LAMA2 | c.4392T>A (p.Asn1464Lys) c.4656T>A (p.Asn1552Lys) n.41T>A c.4662T>A (p.Asn1554Lys) c.2787T>A (p.Asn929Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342423T>C | CA451925707 | LAMA2 | c.4392T>C (p.Asn1464=) c.4656T>C (p.Asn1552=) n.41T>C c.4662T>C (p.Asn1554=) c.2787T>C (p.Asn929=) | gnomAD v4 |
| 6 | g.129342423T>G | CA365615407 | LAMA2 | c.4392T>G (p.Asn1464Lys) c.4656T>G (p.Asn1552Lys) n.41T>G c.4662T>G (p.Asn1554Lys) c.2787T>G (p.Asn929Lys) | |
| 6 | g.129342423T= | CA1663123393 | LAMA2 | c.4392T= (p.Asn1464=) c.4656T= (p.Asn1552=) n.41T= c.4662T= (p.Asn1554=) c.2787T= (p.Asn929=) | |
| 6 | g.129342424G>A | CA365615410 | LAMA2 | c.4393G>A (p.Asp1465Asn) c.4657G>A (p.Asp1553Asn) n.42G>A c.4663G>A (p.Asp1555Asn) c.2788G>A (p.Asp930Asn) | |
| 6 | g.129342424G>C | CA365615411 | LAMA2 | c.4393G>C (p.Asp1465His) c.4657G>C (p.Asp1553His) n.42G>C c.4663G>C (p.Asp1555His) c.2788G>C (p.Asp930His) | |
| 6 | g.129342424G>T | CA365615409 | LAMA2 | c.4393G>T (p.Asp1465Tyr) c.4657G>T (p.Asp1553Tyr) n.42G>T c.4663G>T (p.Asp1555Tyr) c.2788G>T (p.Asp930Tyr) | gnomAD v4 |
| 6 | g.129342425A>C | CA365615413 | LAMA2 | c.4394A>C (p.Asp1465Ala) c.4658A>C (p.Asp1553Ala) n.43A>C c.4664A>C (p.Asp1555Ala) c.2789A>C (p.Asp930Ala) | |
| 6 | g.129342425A>G | CA365615414 | LAMA2 | c.4394A>G (p.Asp1465Gly) c.4658A>G (p.Asp1553Gly) n.43A>G c.4664A>G (p.Asp1555Gly) c.2789A>G (p.Asp930Gly) | |
| 6 | g.129342425A>T | CA365615415 | LAMA2 | c.4394A>T (p.Asp1465Val) c.4658A>T (p.Asp1553Val) n.43A>T c.4664A>T (p.Asp1555Val) c.2789A>T (p.Asp930Val) | |
| 6 | g.129342426C>A | CA365615416 | LAMA2 | c.4395C>A (p.Asp1465Glu) c.4659C>A (p.Asp1553Glu) n.44C>A c.4665C>A (p.Asp1555Glu) c.2790C>A (p.Asp930Glu) | |
| 6 | g.129342426C= | CA1663123396 | LAMA2 | c.4395C= (p.Asp1465=) c.4659C= (p.Asp1553=) n.44C= c.4665C= (p.Asp1555=) c.2790C= (p.Asp930=) | |
| 6 | g.129342426C>G | CA365615418 | LAMA2 | c.4395C>G (p.Asp1465Glu) c.4659C>G (p.Asp1553Glu) n.44C>G c.4665C>G (p.Asp1555Glu) c.2790C>G (p.Asp930Glu) | |
| 6 | g.129342426C>T | CA3993533 | LAMA2 | c.4395C>T (p.Asp1465=) c.4659C>T (p.Asp1553=) n.44C>T c.4665C>T (p.Asp1555=) c.2790C>T (p.Asp930=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342427T>A | CA365615422 | LAMA2 | c.4396T>A (p.Cys1466Ser) c.4660T>A (p.Cys1554Ser) n.45T>A c.4666T>A (p.Cys1556Ser) c.2791T>A (p.Cys931Ser) | |
| 6 | g.129342427T>C | CA365615419 | LAMA2 | c.4396T>C (p.Cys1466Arg) c.4660T>C (p.Cys1554Arg) n.45T>C c.4666T>C (p.Cys1556Arg) c.2791T>C (p.Cys931Arg) | |
| 6 | g.129342427T>G | CA365615421 | LAMA2 | c.4396T>G (p.Cys1466Gly) c.4660T>G (p.Cys1554Gly) n.45T>G c.4666T>G (p.Cys1556Gly) c.2791T>G (p.Cys931Gly) | |
| 6 | g.129342428_129342429del | CA2580074942 | LAMA2 | c.4397_4398del (p.Cys1466SerfsTer12) c.4661_4662del (p.Cys1554SerfsTer12) n.46_47del c.4667_4668del (p.Cys1556SerfsTer12) c.2792_2793del (p.Cys931SerfsTer12) | ClinVar |
| 6 | g.129342428G>A | CA365615425 | LAMA2 | c.4397G>A (p.Cys1466Tyr) c.4661G>A (p.Cys1554Tyr) n.46G>A c.4667G>A (p.Cys1556Tyr) c.2792G>A (p.Cys931Tyr) | ClinVar dbSNP |
| 6 | g.129342428G>C | CA365615426 | LAMA2 | c.4397G>C (p.Cys1466Ser) c.4661G>C (p.Cys1554Ser) n.46G>C c.4667G>C (p.Cys1556Ser) c.2792G>C (p.Cys931Ser) | |
| 6 | g.129342428G= | CA1663123400 | LAMA2 | c.4397G= (p.Cys1466=) c.4661G= (p.Cys1554=) n.46G= c.4667G= (p.Cys1556=) c.2792G= (p.Cys931=) | |
| 6 | g.129342428G>T | CA365615428 | LAMA2 | c.4397G>T (p.Cys1466Phe) c.4661G>T (p.Cys1554Phe) n.46G>T c.4667G>T (p.Cys1556Phe) c.2792G>T (p.Cys931Phe) | |
| 6 | g.129342429T>A | CA365615431 | LAMA2 | c.4398T>A (p.Cys1466Ter) c.4662T>A (p.Cys1554Ter) n.47T>A c.4668T>A (p.Cys1556Ter) c.2793T>A (p.Cys931Ter) | |
| 6 | g.129342429T>C | CA451925719 | LAMA2 | c.4398T>C (p.Cys1466=) c.4662T>C (p.Cys1554=) n.47T>C c.4668T>C (p.Cys1556=) c.2793T>C (p.Cys931=) | |
| 6 | g.129342429T>G | CA365615432 | LAMA2 | c.4398T>G (p.Cys1466Trp) c.4662T>G (p.Cys1554Trp) n.47T>G c.4668T>G (p.Cys1556Trp) c.2793T>G (p.Cys931Trp) | |
| 6 | g.129342430C>A | CA365615433 | LAMA2 | c.4399C>A (p.Gln1467Lys) c.4663C>A (p.Gln1555Lys) n.48C>A c.4669C>A (p.Gln1557Lys) c.2794C>A (p.Gln932Lys) | gnomAD v4 |
| 6 | g.129342430C>G | CA365615437 | LAMA2 | c.4399C>G (p.Gln1467Glu) c.4663C>G (p.Gln1555Glu) n.48C>G c.4669C>G (p.Gln1557Glu) c.2794C>G (p.Gln932Glu) | |
| 6 | g.129342430C>T | CA365615435 | LAMA2 | c.4399C>T (p.Gln1467Ter) c.4663C>T (p.Gln1555Ter) n.48C>T c.4669C>T (p.Gln1557Ter) c.2794C>T (p.Gln932Ter) | |
| 6 | g.129342431A>C | CA365615439 | LAMA2 | c.4400A>C (p.Gln1467Pro) c.4664A>C (p.Gln1555Pro) n.49A>C c.4670A>C (p.Gln1557Pro) c.2795A>C (p.Gln932Pro) | |
| 6 | g.129342431A>G | CA365615441 | LAMA2 | c.4400A>G (p.Gln1467Arg) c.4664A>G (p.Gln1555Arg) n.49A>G c.4670A>G (p.Gln1557Arg) c.2795A>G (p.Gln932Arg) | |
| 6 | g.129342431A>T | CA365615443 | LAMA2 | c.4400A>T (p.Gln1467Leu) c.4664A>T (p.Gln1555Leu) n.49A>T c.4670A>T (p.Gln1557Leu) c.2795A>T (p.Gln932Leu) | |
| 6 | g.129342432G>A | CA3993534 | LAMA2 | c.4401G>A (p.Gln1467=) c.4665G>A (p.Gln1555=) n.50G>A c.4671G>A (p.Gln1557=) c.2796G>A (p.Gln932=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342432G>C | CA365615446 | LAMA2 | c.4401G>C (p.Gln1467His) c.4665G>C (p.Gln1555His) n.50G>C c.4671G>C (p.Gln1557His) c.2796G>C (p.Gln932His) | |
| 6 | g.129342432G= | CA1663123403 | LAMA2 | c.4401G= (p.Gln1467=) c.4665G= (p.Gln1555=) n.50G= c.4671G= (p.Gln1557=) c.2796G= (p.Gln932=) | |
| 6 | g.129342432G>T | CA365615448 | LAMA2 | c.4401G>T (p.Gln1467His) c.4665G>T (p.Gln1555His) n.50G>T c.4671G>T (p.Gln1557His) c.2796G>T (p.Gln932His) | |
| 6 | g.129342433C>A | CA146901693 | LAMA2 | c.4402C>A (p.Gln1468Lys) c.4666C>A (p.Gln1556Lys) n.51C>A c.4672C>A (p.Gln1558Lys) c.2797C>A (p.Gln933Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342433C= | CA1663123408 | LAMA2 | c.4402C= (p.Gln1468=) c.4666C= (p.Gln1556=) n.51C= c.4672C= (p.Gln1558=) c.2797C= (p.Gln933=) | |
| 6 | g.129342433C>G | CA365615451 | LAMA2 | c.4402C>G (p.Gln1468Glu) c.4666C>G (p.Gln1556Glu) n.51C>G c.4672C>G (p.Gln1558Glu) c.2797C>G (p.Gln933Glu) | |
| 6 | g.129342433C>T | CA365615453 | LAMA2 | c.4402C>T (p.Gln1468Ter) c.4666C>T (p.Gln1556Ter) n.51C>T c.4672C>T (p.Gln1558Ter) c.2797C>T (p.Gln933Ter) | |
| 6 | g.129342434A>C | CA365615455 | LAMA2 | c.4403A>C (p.Gln1468Pro) c.4667A>C (p.Gln1556Pro) n.52A>C c.4673A>C (p.Gln1558Pro) c.2798A>C (p.Gln933Pro) | |
| 6 | g.129342434A>G | CA365615457 | LAMA2 | c.4403A>G (p.Gln1468Arg) c.4667A>G (p.Gln1556Arg) n.52A>G c.4673A>G (p.Gln1558Arg) c.2798A>G (p.Gln933Arg) | |
| 6 | g.129342434A>T | CA365615458 | LAMA2 | c.4403A>T (p.Gln1468Leu) c.4667A>T (p.Gln1556Leu) n.52A>T c.4673A>T (p.Gln1558Leu) c.2798A>T (p.Gln933Leu) | |
| 6 | g.129342435A>C | CA365615460 | LAMA2 | c.4404A>C (p.Gln1468His) c.4668A>C (p.Gln1556His) n.53A>C c.4674A>C (p.Gln1558His) c.2799A>C (p.Gln933His) | |
| 6 | g.129342435A>G | CA451925746 | LAMA2 | c.4404A>G (p.Gln1468=) c.4668A>G (p.Gln1556=) n.53A>G c.4674A>G (p.Gln1558=) c.2799A>G (p.Gln933=) | |
| 6 | g.129342435A>T | CA365615462 | LAMA2 | c.4404A>T (p.Gln1468His) c.4668A>T (p.Gln1556His) n.53A>T c.4674A>T (p.Gln1558His) c.2799A>T (p.Gln933His) | |
| 6 | g.129342436T>A | CA365615464 | LAMA2 | c.4405T>A (p.Cys1469Ser) c.4669T>A (p.Cys1557Ser) n.54T>A c.4675T>A (p.Cys1559Ser) c.2800T>A (p.Cys934Ser) | |
| 6 | g.129342436T>C | CA365615468 | LAMA2 | c.4405T>C (p.Cys1469Arg) c.4669T>C (p.Cys1557Arg) n.54T>C c.4675T>C (p.Cys1559Arg) c.2800T>C (p.Cys934Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129342436T>G | CA365615466 | LAMA2 | c.4405T>G (p.Cys1469Gly) c.4669T>G (p.Cys1557Gly) n.54T>G c.4675T>G (p.Cys1559Gly) c.2800T>G (p.Cys934Gly) | |
| 6 | g.129342436T= | CA1663123414 | LAMA2 | c.4405T= (p.Cys1469=) c.4669T= (p.Cys1557=) n.54T= c.4675T= (p.Cys1559=) c.2800T= (p.Cys934=) | |
| 6 | g.129342437G>A | CA365615470 | LAMA2 | c.4406G>A (p.Cys1469Tyr) c.4670G>A (p.Cys1557Tyr) n.55G>A c.4676G>A (p.Cys1559Tyr) c.2801G>A (p.Cys934Tyr) | COSMIC |
| 6 | g.129342437G>C | CA365615473 | LAMA2 | c.4406G>C (p.Cys1469Ser) c.4670G>C (p.Cys1557Ser) n.55G>C c.4676G>C (p.Cys1559Ser) c.2801G>C (p.Cys934Ser) | |
| 6 | g.129342437G>T | CA365615472 | LAMA2 | c.4406G>T (p.Cys1469Phe) c.4670G>T (p.Cys1557Phe) n.55G>T c.4676G>T (p.Cys1559Phe) c.2801G>T (p.Cys934Phe) | |
| 6 | g.129342438T>A | CA365615475 | LAMA2 | c.4407T>A (p.Cys1469Ter) c.4671T>A (p.Cys1557Ter) n.56T>A c.4677T>A (p.Cys1559Ter) c.2802T>A (p.Cys934Ter) | |
| 6 | g.129342438T>C | CA451925775 | LAMA2 | c.4407T>C (p.Cys1469=) c.4671T>C (p.Cys1557=) n.56T>C c.4677T>C (p.Cys1559=) c.2802T>C (p.Cys934=) | |
| 6 | g.129342438T>G | CA365615477 | LAMA2 | c.4407T>G (p.Cys1469Trp) c.4671T>G (p.Cys1557Trp) n.56T>G c.4677T>G (p.Cys1559Trp) c.2802T>G (p.Cys934Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.129342438T= | CA1663123416 | LAMA2 | c.4407T= (p.Cys1469=) c.4671T= (p.Cys1557=) n.56T= c.4677T= (p.Cys1559=) c.2802T= (p.Cys934=) | |
| 6 | g.129342439G>A | CA365615479 | LAMA2 | c.4408G>A (p.Ala1470Thr) c.4672G>A (p.Ala1558Thr) n.57G>A c.4678G>A (p.Ala1560Thr) c.2803G>A (p.Ala935Thr) | |
| 6 | g.129342439G>C | CA365615483 | LAMA2 | c.4408G>C (p.Ala1470Pro) c.4672G>C (p.Ala1558Pro) n.57G>C c.4678G>C (p.Ala1560Pro) c.2803G>C (p.Ala935Pro) | |
| 6 | g.129342439G>T | CA365615481 | LAMA2 | c.4408G>T (p.Ala1470Ser) c.4672G>T (p.Ala1558Ser) n.57G>T c.4678G>T (p.Ala1560Ser) c.2803G>T (p.Ala935Ser) | |
| 6 | g.129342440C>A | CA365615485 | LAMA2 | c.4409C>A (p.Ala1470Asp) c.4673C>A (p.Ala1558Asp) n.58C>A c.4679C>A (p.Ala1560Asp) c.2804C>A (p.Ala935Asp) | |
| 6 | g.129342440C= | CA1663123417 | LAMA2 | c.4409C= (p.Ala1470=) c.4673C= (p.Ala1558=) n.58C= c.4679C= (p.Ala1560=) c.2804C= (p.Ala935=) | |
| 6 | g.129342440C>G | CA365615487 | LAMA2 | c.4409C>G (p.Ala1470Gly) c.4673C>G (p.Ala1558Gly) n.58C>G c.4679C>G (p.Ala1560Gly) c.2804C>G (p.Ala935Gly) | |
| 6 | g.129342440C>T | CA365615489 | LAMA2 | c.4409C>T (p.Ala1470Val) c.4673C>T (p.Ala1558Val) n.58C>T c.4679C>T (p.Ala1560Val) c.2804C>T (p.Ala935Val) | dbSNP gnomAD v4 |
| 6 | g.129342441C>A | CA451925797 | LAMA2 | c.4410C>A (p.Ala1470=) c.4674C>A (p.Ala1558=) n.59C>A c.4680C>A (p.Ala1560=) c.2805C>A (p.Ala935=) | COSMIC |
| 6 | g.129342441C>G | CA451925799 | LAMA2 | c.4410C>G (p.Ala1470=) c.4674C>G (p.Ala1558=) n.59C>G c.4680C>G (p.Ala1560=) c.2805C>G (p.Ala935=) | |
| 6 | g.129342441C>T | CA451925805 | LAMA2 | c.4410C>T (p.Ala1470=) c.4674C>T (p.Ala1558=) n.59C>T c.4680C>T (p.Ala1560=) c.2805C>T (p.Ala935=) | gnomAD v4 |
| 6 | g.129342442T>A | CA365615491 | LAMA2 | c.4411T>A (p.Cys1471Ser) c.4675T>A (p.Cys1559Ser) n.60T>A c.4681T>A (p.Cys1561Ser) c.2806T>A (p.Cys936Ser) | |
| 6 | g.129342442T>C | CA365615493 | LAMA2 | c.4411T>C (p.Cys1471Arg) c.4675T>C (p.Cys1559Arg) n.60T>C c.4681T>C (p.Cys1561Arg) c.2806T>C (p.Cys936Arg) | |
| 6 | g.129342442T>G | CA365615494 | LAMA2 | c.4411T>G (p.Cys1471Gly) c.4675T>G (p.Cys1559Gly) n.60T>G c.4681T>G (p.Cys1561Gly) c.2806T>G (p.Cys936Gly) | |
| 6 | g.129342443G>A | CA365615496 | LAMA2 | c.4412G>A (p.Cys1471Tyr) c.4676G>A (p.Cys1559Tyr) n.61G>A c.4682G>A (p.Cys1561Tyr) c.2807G>A (p.Cys936Tyr) | |
| 6 | g.129342443G>C | CA365615497 | LAMA2 | c.4412G>C (p.Cys1471Ser) c.4676G>C (p.Cys1559Ser) n.61G>C c.4682G>C (p.Cys1561Ser) c.2807G>C (p.Cys936Ser) | |
| 6 | g.129342443G>T | CA365615499 | LAMA2 | c.4412G>T (p.Cys1471Phe) c.4676G>T (p.Cys1559Phe) n.61G>T c.4682G>T (p.Cys1561Phe) c.2807G>T (p.Cys936Phe) | |
| 6 | g.129342444C>A | CA365615501 | LAMA2 | c.4413C>A (p.Cys1471Ter) c.4677C>A (p.Cys1559Ter) n.62C>A c.4683C>A (p.Cys1561Ter) c.2808C>A (p.Cys936Ter) | |
| 6 | g.129342444C= | CA1663123419 | LAMA2 | c.4413C= (p.Cys1471=) c.4677C= (p.Cys1559=) n.62C= c.4683C= (p.Cys1561=) c.2808C= (p.Cys936=) | |
| 6 | g.129342444C>G | CA365615503 | LAMA2 | c.4413C>G (p.Cys1471Trp) c.4677C>G (p.Cys1559Trp) n.62C>G c.4683C>G (p.Cys1561Trp) c.2808C>G (p.Cys936Trp) | |
| 6 | g.129342444C>T | CA3993535 | LAMA2 | c.4413C>T (p.Cys1471=) c.4677C>T (p.Cys1559=) n.62C>T c.4683C>T (p.Cys1561=) c.2808C>T (p.Cys936=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342445C>A | CA365615509 | LAMA2 | c.4414C>A (p.Pro1472Thr) c.4678C>A (p.Pro1560Thr) n.63C>A c.4684C>A (p.Pro1562Thr) c.2809C>A (p.Pro937Thr) | |
| 6 | g.129342445C>G | CA365615506 | LAMA2 | c.4414C>G (p.Pro1472Ala) c.4678C>G (p.Pro1560Ala) n.63C>G c.4684C>G (p.Pro1562Ala) c.2809C>G (p.Pro937Ala) | |
| 6 | g.129342445C>T | CA365615508 | LAMA2 | c.4414C>T (p.Pro1472Ser) c.4678C>T (p.Pro1560Ser) n.63C>T c.4684C>T (p.Pro1562Ser) c.2809C>T (p.Pro937Ser) | ClinVar |
| 6 | g.129342446C>A | CA365615511 | LAMA2 | c.4415C>A (p.Pro1472His) c.4679C>A (p.Pro1560His) n.64C>A c.4685C>A (p.Pro1562His) c.2810C>A (p.Pro937His) | |
| 6 | g.129342446C>G | CA365615513 | LAMA2 | c.4415C>G (p.Pro1472Arg) c.4679C>G (p.Pro1560Arg) n.64C>G c.4685C>G (p.Pro1562Arg) c.2810C>G (p.Pro937Arg) | |
| 6 | g.129342446C>T | CA365615514 | LAMA2 | c.4415C>T (p.Pro1472Leu) c.4679C>T (p.Pro1560Leu) n.64C>T c.4685C>T (p.Pro1562Leu) c.2810C>T (p.Pro937Leu) | gnomAD v4 |
| 6 | g.129342447T>A | CA451925842 | LAMA2 | c.4416T>A (p.Pro1472=) c.4680T>A (p.Pro1560=) n.65T>A c.4686T>A (p.Pro1562=) c.2811T>A (p.Pro937=) | |
| 6 | g.129342447T>C | CA451925844 | LAMA2 | c.4416T>C (p.Pro1472=) c.4680T>C (p.Pro1560=) n.65T>C c.4686T>C (p.Pro1562=) c.2811T>C (p.Pro937=) | |
| 6 | g.129342447T>G | CA451925847 | LAMA2 | c.4416T>G (p.Pro1472=) c.4680T>G (p.Pro1560=) n.65T>G c.4686T>G (p.Pro1562=) c.2811T>G (p.Pro937=) | |
| 6 | g.129342448C>A | CA365615515 | LAMA2 | c.4417C>A (p.Leu1473Met) c.4681C>A (p.Leu1561Met) n.66C>A c.4687C>A (p.Leu1563Met) c.2812C>A (p.Leu938Met) | |
| 6 | g.129342448C>G | CA365615516 | LAMA2 | c.4417C>G (p.Leu1473Val) c.4681C>G (p.Leu1561Val) n.66C>G c.4687C>G (p.Leu1563Val) c.2812C>G (p.Leu938Val) | |
| 6 | g.129342448C>T | CA451925849 | LAMA2 | c.4417C>T (p.Leu1473=) c.4681C>T (p.Leu1561=) n.66C>T c.4687C>T (p.Leu1563=) c.2812C>T (p.Leu938=) | |
| 6 | g.129342449T>A | CA365615519 | LAMA2 | c.4418T>A (p.Leu1473Gln) c.4682T>A (p.Leu1561Gln) n.67T>A c.4688T>A (p.Leu1563Gln) c.2813T>A (p.Leu938Gln) | |
| 6 | g.129342449T>C | CA365615521 | LAMA2 | c.4418T>C (p.Leu1473Pro) c.4682T>C (p.Leu1561Pro) n.67T>C c.4688T>C (p.Leu1563Pro) c.2813T>C (p.Leu938Pro) | dbSNP |
| 6 | g.129342449T>G | CA365615522 | LAMA2 | c.4418T>G (p.Leu1473Arg) c.4682T>G (p.Leu1561Arg) n.67T>G c.4688T>G (p.Leu1563Arg) c.2813T>G (p.Leu938Arg) | |
| 6 | g.129342449T= | CA1663123422 | LAMA2 | c.4418T= (p.Leu1473=) c.4682T= (p.Leu1561=) n.67T= c.4688T= (p.Leu1563=) c.2813T= (p.Leu938=) | |
| 6 | g.129342450G>A | CA451925863 | LAMA2 | c.4419G>A (p.Leu1473=) c.4683G>A (p.Leu1561=) n.68G>A c.4689G>A (p.Leu1563=) c.2814G>A (p.Leu938=) | ClinVar dbSNP COSMIC |
| 6 | g.129342450G>C | CA451925864 | LAMA2 | c.4419G>C (p.Leu1473=) c.4683G>C (p.Leu1561=) n.68G>C c.4689G>C (p.Leu1563=) c.2814G>C (p.Leu938=) | |
| 6 | g.129342450G>T | CA451925865 | LAMA2 | c.4419G>T (p.Leu1473=) c.4683G>T (p.Leu1561=) n.68G>T c.4689G>T (p.Leu1563=) c.2814G>T (p.Leu938=) | |
| 6 | g.129342451A= | CA1663123424 | LAMA2 | c.4420A= (p.Ile1474=) c.4684A= (p.Ile1562=) n.69A= c.4690A= (p.Ile1564=) c.2815A= (p.Ile939=) | |
| 6 | g.129342451A>C | CA365615525 | LAMA2 | c.4420A>C (p.Ile1474Leu) c.4684A>C (p.Ile1562Leu) n.69A>C c.4690A>C (p.Ile1564Leu) c.2815A>C (p.Ile939Leu) | |
| 6 | g.129342451A>G | CA365615527 | LAMA2 | c.4420A>G (p.Ile1474Val) c.4684A>G (p.Ile1562Val) n.69A>G c.4690A>G (p.Ile1564Val) c.2815A>G (p.Ile939Val) | |
| 6 | g.129342451A>T | CA3993536 | LAMA2 | c.4420A>T (p.Ile1474Phe) c.4684A>T (p.Ile1562Phe) n.69A>T c.4690A>T (p.Ile1564Phe) c.2815A>T (p.Ile939Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342452T>A | CA365615533 | LAMA2 | c.4421T>A (p.Ile1474Asn) c.4685T>A (p.Ile1562Asn) n.70T>A c.4691T>A (p.Ile1564Asn) c.2816T>A (p.Ile939Asn) | |
| 6 | g.129342452T>C | CA365615531 | LAMA2 | c.4421T>C (p.Ile1474Thr) c.4685T>C (p.Ile1562Thr) n.70T>C c.4691T>C (p.Ile1564Thr) c.2816T>C (p.Ile939Thr) | |
| 6 | g.129342452T>G | CA365615529 | LAMA2 | c.4421T>G (p.Ile1474Ser) c.4685T>G (p.Ile1562Ser) n.70T>G c.4691T>G (p.Ile1564Ser) c.2816T>G (p.Ile939Ser) | |
| 6 | g.129342453T>A | CA451925880 | LAMA2 | c.4422T>A (p.Ile1474=) c.4686T>A (p.Ile1562=) n.71T>A c.4692T>A (p.Ile1564=) c.2817T>A (p.Ile939=) | |
| 6 | g.129342453T>C | CA451925878 | LAMA2 | c.4422T>C (p.Ile1474=) c.4686T>C (p.Ile1562=) n.71T>C c.4692T>C (p.Ile1564=) c.2817T>C (p.Ile939=) | |
| 6 | g.129342453T>G | CA365615535 | LAMA2 | c.4422T>G (p.Ile1474Met) c.4686T>G (p.Ile1562Met) n.71T>G c.4692T>G (p.Ile1564Met) c.2817T>G (p.Ile939Met) | |
| 6 | g.129342454T>A | CA365615537 | LAMA2 | c.4423T>A (p.Ser1475Thr) c.4687T>A (p.Ser1563Thr) n.72T>A c.4693T>A (p.Ser1565Thr) c.2818T>A (p.Ser940Thr) | |
| 6 | g.129342454T>C | CA365615539 | LAMA2 | c.4423T>C (p.Ser1475Pro) c.4687T>C (p.Ser1563Pro) n.72T>C c.4693T>C (p.Ser1565Pro) c.2818T>C (p.Ser940Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342454T>G | CA365615540 | LAMA2 | c.4423T>G (p.Ser1475Ala) c.4687T>G (p.Ser1563Ala) n.72T>G c.4693T>G (p.Ser1565Ala) c.2818T>G (p.Ser940Ala) | |
| 6 | g.129342454T= | CA1663123427 | LAMA2 | c.4423T= (p.Ser1475=) c.4687T= (p.Ser1563=) n.72T= c.4693T= (p.Ser1565=) c.2818T= (p.Ser940=) | |
| 6 | g.129342455C>A | CA365615542 | LAMA2 | c.4424C>A (p.Ser1475Tyr) c.4688C>A (p.Ser1563Tyr) n.73C>A c.4694C>A (p.Ser1565Tyr) c.2819C>A (p.Ser940Tyr) | |
| 6 | g.129342455C>G | CA365615544 | LAMA2 | c.4424C>G (p.Ser1475Cys) c.4688C>G (p.Ser1563Cys) n.73C>G c.4694C>G (p.Ser1565Cys) c.2819C>G (p.Ser940Cys) | |
| 6 | g.129342455C>T | CA365615545 | LAMA2 | c.4424C>T (p.Ser1475Phe) c.4688C>T (p.Ser1563Phe) n.73C>T c.4694C>T (p.Ser1565Phe) c.2819C>T (p.Ser940Phe) | gnomAD v4 |
| 6 | g.129342456T>A | CA451925901 | LAMA2 | c.4425T>A (p.Ser1475=) c.4689T>A (p.Ser1563=) n.74T>A c.4695T>A (p.Ser1565=) c.2820T>A (p.Ser940=) | |
| 6 | g.129342456T>C | CA451925899 | LAMA2 | c.4425T>C (p.Ser1475=) c.4689T>C (p.Ser1563=) n.74T>C c.4695T>C (p.Ser1565=) c.2820T>C (p.Ser940=) | |
| 6 | g.129342456T>G | CA451925890 | LAMA2 | c.4425T>G (p.Ser1475=) c.4689T>G (p.Ser1563=) n.74T>G c.4695T>G (p.Ser1565=) c.2820T>G (p.Ser940=) | |
| 6 | g.129342457T>A | CA365615547 | LAMA2 | c.4426T>A (p.Ser1476Thr) c.4690T>A (p.Ser1564Thr) n.75T>A c.4696T>A (p.Ser1566Thr) c.2821T>A (p.Ser941Thr) | |
| 6 | g.129342457T>C | CA365615548 | LAMA2 | c.4426T>C (p.Ser1476Pro) c.4690T>C (p.Ser1564Pro) n.75T>C c.4696T>C (p.Ser1566Pro) c.2821T>C (p.Ser941Pro) | |
| 6 | g.129342457T>G | CA365615549 | LAMA2 | c.4426T>G (p.Ser1476Ala) c.4690T>G (p.Ser1564Ala) n.75T>G c.4696T>G (p.Ser1566Ala) c.2821T>G (p.Ser941Ala) | |
| 6 | g.129342458C>A | CA365615552 | LAMA2 | c.4427C>A (p.Ser1476Tyr) c.4691C>A (p.Ser1564Tyr) n.76C>A c.4697C>A (p.Ser1566Tyr) c.2822C>A (p.Ser941Tyr) | |
| 6 | g.129342458C>G | CA365615554 | LAMA2 | c.4427C>G (p.Ser1476Cys) c.4691C>G (p.Ser1564Cys) n.76C>G c.4697C>G (p.Ser1566Cys) c.2822C>G (p.Ser941Cys) | |
| 6 | g.129342458C>T | CA365615555 | LAMA2 | c.4427C>T (p.Ser1476Phe) c.4691C>T (p.Ser1564Phe) n.76C>T c.4697C>T (p.Ser1566Phe) c.2822C>T (p.Ser941Phe) | gnomAD v4 |
| 6 | g.129342459C>A | CA451925914 | LAMA2 | c.4428C>A (p.Ser1476=) c.4692C>A (p.Ser1564=) n.77C>A c.4698C>A (p.Ser1566=) c.2823C>A (p.Ser941=) | |
| 6 | g.129342459C>G | CA451925921 | LAMA2 | c.4428C>G (p.Ser1476=) c.4692C>G (p.Ser1564=) n.77C>G c.4698C>G (p.Ser1566=) c.2823C>G (p.Ser941=) | |
| 6 | g.129342459C>T | CA451925918 | LAMA2 | c.4428C>T (p.Ser1476=) c.4692C>T (p.Ser1564=) n.77C>T c.4698C>T (p.Ser1566=) c.2823C>T (p.Ser941=) | ClinVar dbSNP |
| 6 | g.129342460A>C | CA365615560 | LAMA2 | c.4429A>C (p.Ser1477Arg) c.4693A>C (p.Ser1565Arg) n.78A>C c.4699A>C (p.Ser1567Arg) c.2824A>C (p.Ser942Arg) | |
| 6 | g.129342460A>G | CA365615559 | LAMA2 | c.4429A>G (p.Ser1477Gly) c.4693A>G (p.Ser1565Gly) n.78A>G c.4699A>G (p.Ser1567Gly) c.2824A>G (p.Ser942Gly) | |
| 6 | g.129342460A>T | CA365615558 | LAMA2 | c.4429A>T (p.Ser1477Cys) c.4693A>T (p.Ser1565Cys) n.78A>T c.4699A>T (p.Ser1567Cys) c.2824A>T (p.Ser942Cys) | |
| 6 | g.129342461G>A | CA365615561 | LAMA2 | c.4430G>A (p.Ser1477Asn) c.4694G>A (p.Ser1565Asn) n.79G>A c.4700G>A (p.Ser1567Asn) c.2825G>A (p.Ser942Asn) | COSMIC |
| 6 | g.129342461G>C | CA365615563 | LAMA2 | c.4430G>C (p.Ser1477Thr) c.4694G>C (p.Ser1565Thr) n.79G>C c.4700G>C (p.Ser1567Thr) c.2825G>C (p.Ser942Thr) | |
| 6 | g.129342461G>T | CA365615565 | LAMA2 | c.4430G>T (p.Ser1477Ile) c.4694G>T (p.Ser1565Ile) n.79G>T c.4700G>T (p.Ser1567Ile) c.2825G>T (p.Ser942Ile) | |
| 6 | g.129342462T>A | CA365615567 | LAMA2 | c.4431T>A (p.Ser1477Arg) c.4695T>A (p.Ser1565Arg) n.80T>A c.4701T>A (p.Ser1567Arg) c.2826T>A (p.Ser942Arg) | |
| 6 | g.129342462T>C | CA451925930 | LAMA2 | c.4431T>C (p.Ser1477=) c.4695T>C (p.Ser1565=) n.80T>C c.4701T>C (p.Ser1567=) c.2826T>C (p.Ser942=) | |
| 6 | g.129342462T>G | CA365615569 | LAMA2 | c.4431T>G (p.Ser1477Arg) c.4695T>G (p.Ser1565Arg) n.80T>G c.4701T>G (p.Ser1567Arg) c.2826T>G (p.Ser942Arg) | |
| 6 | g.129342463A>C | CA365615571 | LAMA2 | c.4432A>C (p.Asn1478His) c.4696A>C (p.Asn1566His) n.81A>C c.4702A>C (p.Asn1568His) c.2827A>C (p.Asn943His) | |
| 6 | g.129342463A>G | CA365615572 | LAMA2 | c.4432A>G (p.Asn1478Asp) c.4696A>G (p.Asn1566Asp) n.81A>G c.4702A>G (p.Asn1568Asp) c.2827A>G (p.Asn943Asp) | |
| 6 | g.129342463A>T | CA365615573 | LAMA2 | c.4432A>T (p.Asn1478Tyr) c.4696A>T (p.Asn1566Tyr) n.81A>T c.4702A>T (p.Asn1568Tyr) c.2827A>T (p.Asn943Tyr) | |
| 6 | g.129342464A>C | CA365615574 | LAMA2 | c.4433A>C (p.Asn1478Thr) c.4697A>C (p.Asn1566Thr) n.82A>C c.4703A>C (p.Asn1568Thr) c.2828A>C (p.Asn943Thr) | gnomAD v4 |
| 6 | g.129342464A>G | CA365615575 | LAMA2 | c.4433A>G (p.Asn1478Ser) c.4697A>G (p.Asn1566Ser) n.82A>G c.4703A>G (p.Asn1568Ser) c.2828A>G (p.Asn943Ser) | |
| 6 | g.129342464A>T | CA365615576 | LAMA2 | c.4433A>T (p.Asn1478Ile) c.4697A>T (p.Asn1566Ile) n.82A>T c.4703A>T (p.Asn1568Ile) c.2828A>T (p.Asn943Ile) | |
| 6 | g.129342464_129342500delinsACAAGTAAGATTGAGAAATATAACCATATTTCCCAAT | CA1663123443 | LAMA2 | c.4433_4436+33delinsACAAGTAAGATTGAGAAATATAACCATATTTCCCAAT c.4697_4700+33delinsACAAGTAAGATTGAGAAATATAACCATATTTCCCAAT n.82_85+33delinsACAAGTAAGATTGAGAAATATAACCATATTTCCCAAT c.4703_4706+33delinsACAAGTAAGATTGAGAAATATAACCATATTTCCCAAT c.2828_2831+33delinsACAAGTAAGATTGAGAAATATAACCATATTTCCCAAT | |
| 6 | g.129342465C>A | CA365615577 | LAMA2 | c.4434C>A (p.Asn1478Lys) c.4698C>A (p.Asn1566Lys) n.83C>A c.4704C>A (p.Asn1568Lys) c.2829C>A (p.Asn943Lys) | |
| 6 | g.129342465C>G | CA365615578 | LAMA2 | c.4434C>G (p.Asn1478Lys) c.4698C>G (p.Asn1566Lys) n.83C>G c.4704C>G (p.Asn1568Lys) c.2829C>G (p.Asn943Lys) | |
| 6 | g.129342465C>T | CA451925940 | LAMA2 | c.4434C>T (p.Asn1478=) c.4698C>T (p.Asn1566=) n.83C>T c.4704C>T (p.Asn1568=) c.2829C>T (p.Asn943=) | COSMIC |
| 6 | g.129342465_129342469delinsCAAGT | CA1663123446 | LAMA2 | c.4434_4436+2delinsCAAGT c.4698_4700+2delinsCAAGT n.83_85+2delinsCAAGT c.4704_4706+2delinsCAAGT c.2829_2831+2delinsCAAGT | |
| 6 | g.129342467_129342502del | CA1139659805 | LAMA2 | c.4436_4436+35del c.4700_4700+35del n.85_85+35del c.4706_4706+35del c.2831_2831+35del | ClinVar dbSNP |
| 6 | g.129342466A>C | CA365615579 | LAMA2 | c.4435A>C (p.Asn1479His) c.4699A>C (p.Asn1567His) n.84A>C c.4705A>C (p.Asn1569His) c.2830A>C (p.Asn944His) | |
| 6 | g.129342466A>G | CA365615580 | LAMA2 | c.4435A>G (p.Asn1479Asp) c.4699A>G (p.Asn1567Asp) n.84A>G c.4705A>G (p.Asn1569Asp) c.2830A>G (p.Asn944Asp) | |
| 6 | g.129342466A>T | CA365615581 | LAMA2 | c.4435A>T (p.Asn1479Tyr) c.4699A>T (p.Asn1567Tyr) n.84A>T c.4705A>T (p.Asn1569Tyr) c.2830A>T (p.Asn944Tyr) | |
| 6 | g.129342469_129342472del | CA3993537 | LAMA2 | c.4436+2_4436+5del c.4700+2_4700+5del n.85+2_85+5del c.4706+2_4706+5del c.2831+2_2831+5del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342467A= | CA1663123459 | LAMA2 | c.4436A= (p.Asn1479=) c.4700A= (p.Asn1567=) n.85A= c.4706A= (p.Asn1569=) c.2831A= (p.Asn944=) | |
| 6 | g.129342467A>C | CA365615583 | LAMA2 | c.4436A>C (p.Asn1479Thr) c.4700A>C (p.Asn1567Thr) n.85A>C c.4706A>C (p.Asn1569Thr) c.2831A>C (p.Asn944Thr) | gnomAD v4 |
| 6 | g.129342467A>G | CA3993538 | LAMA2 | c.4436A>G (p.Asn1479Ser) c.4700A>G (p.Asn1567Ser) n.85A>G c.4706A>G (p.Asn1569Ser) c.2831A>G (p.Asn944Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.129342467A>T | CA365615582 | LAMA2 | c.4436A>T (p.Asn1479Ile) c.4700A>T (p.Asn1567Ile) n.85A>T c.4706A>T (p.Asn1569Ile) c.2831A>T (p.Asn944Ile) | |
| 6 | g.129342468G>A | CA365615584 | LAMA2 | c.4436+1G>A (n.4436+1G>A) c.4700+1G>A (n.4700+1G>A) n.85+1G>A c.4706+1G>A (n.4706+1G>A) c.2831+1G>A (n.2831+1G>A) | |
| 6 | g.129342468G>C | CA3993539 | LAMA2 | c.4436+1G>C (n.4436+1G>C) c.4700+1G>C (n.4700+1G>C) n.85+1G>C c.4706+1G>C (n.4706+1G>C) c.2831+1G>C (n.2831+1G>C) | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.129342468G= | CA1663123465 | LAMA2 | c.4436+1G= (n.4436+1G=) c.4700+1G= (n.4700+1G=) n.85+1G= c.4706+1G= (n.4706+1G=) c.2831+1G= (n.2831+1G=) | |
| 6 | g.129342468G>T | CA365615585 | LAMA2 | c.4436+1G>T (n.4436+1G>T) c.4700+1G>T (n.4700+1G>T) n.85+1G>T c.4706+1G>T (n.4706+1G>T) c.2831+1G>T (n.2831+1G>T) | |
| 6 | g.129342469T>A | CA365615586 | LAMA2 | c.4436+2T>A (n.4436+2T>A) c.4700+2T>A (n.4700+2T>A) n.85+2T>A c.4706+2T>A (n.4706+2T>A) c.2831+2T>A (n.2831+2T>A) | |
| 6 | g.129342469T>C | CA365615587 | LAMA2 | c.4436+2T>C (n.4436+2T>C) c.4700+2T>C (n.4700+2T>C) n.85+2T>C c.4706+2T>C (n.4706+2T>C) c.2831+2T>C (n.2831+2T>C) | |
| 6 | g.129342469T>G | CA365615588 | LAMA2 | c.4436+2T>G (n.4436+2T>G) c.4700+2T>G (n.4700+2T>G) n.85+2T>G c.4706+2T>G (n.4706+2T>G) c.2831+2T>G (n.2831+2T>G) | |
| 6 | g.129342470A>G | CA2680324658 | LAMA2 | c.4436+3A>G (n.4436+3A>G) c.4700+3A>G (n.4700+3A>G) n.85+3A>G c.4706+3A>G (n.4706+3A>G) c.2831+3A>G (n.2831+3A>G) | gnomAD v4 |
| 6 | g.129342471A>G | CA2578737214 | LAMA2 | c.4436+4A>G (n.4436+4A>G) c.4700+4A>G (n.4700+4A>G) n.85+4A>G c.4706+4A>G (n.4706+4A>G) c.2831+4A>G (n.2831+4A>G) | gnomAD v4 |
| 6 | g.129342472G= | CA1663123474 | LAMA2 | c.4436+5G= (n.4436+5G=) c.4700+5G= (n.4700+5G=) n.85+5G= c.4706+5G= (n.4706+5G=) c.2831+5G= (n.2831+5G=) | |
| 6 | g.129342472G>T | CA16605021 | LAMA2 | c.4436+5G>T (n.4436+5G>T) c.4700+5G>T (n.4700+5G>T) n.85+5G>T c.4706+5G>T (n.4706+5G>T) c.2831+5G>T (n.2831+5G>T) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129342473A= | CA1663123481 | LAMA2 | c.4436+6A= (n.4436+6A=) c.4700+6A= (n.4700+6A=) n.85+6A= c.4706+6A= (n.4706+6A=) c.2831+6A= (n.2831+6A=) | |
| 6 | g.129342473A>G | CA16605450 | LAMA2 | c.4436+6A>G (n.4436+6A>G) c.4700+6A>G (n.4700+6A>G) n.85+6A>G c.4706+6A>G (n.4706+6A>G) c.2831+6A>G (n.2831+6A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.129342474T>C | CA570044404 | LAMA2 | c.4436+7T>C (n.4436+7T>C) c.4700+7T>C (n.4700+7T>C) n.85+7T>C c.4706+7T>C (n.4706+7T>C) c.2831+7T>C (n.2831+7T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342474T= | CA1663123486 | LAMA2 | c.4436+7T= (n.4436+7T=) c.4700+7T= (n.4700+7T=) n.85+7T= c.4706+7T= (n.4706+7T=) c.2831+7T= (n.2831+7T=) | |
| 6 | g.129342475T>C | CA3993540 | LAMA2 | c.4436+8T>C (n.4436+8T>C) c.4700+8T>C (n.4700+8T>C) n.85+8T>C c.4706+8T>C (n.4706+8T>C) c.2831+8T>C (n.2831+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342475T>G | CA2680324659 | LAMA2 | c.4436+8T>G (n.4436+8T>G) c.4700+8T>G (n.4700+8T>G) n.85+8T>G c.4706+8T>G (n.4706+8T>G) c.2831+8T>G (n.2831+8T>G) | gnomAD v4 |
| 6 | g.129342475T= | CA1663123497 | LAMA2 | c.4436+8T= (n.4436+8T=) c.4700+8T= (n.4700+8T=) n.85+8T= c.4706+8T= (n.4706+8T=) c.2831+8T= (n.2831+8T=) | |
| 6 | g.129342477A= | CA1663123498 | LAMA2 | c.4436+10A= (n.4436+10A=) c.4700+10A= (n.4700+10A=) n.85+10A= c.4706+10A= (n.4706+10A=) c.2831+10A= (n.2831+10A=) | |
| 6 | g.129342477A>G | CA1663123499 | LAMA2 | c.4436+10A>G (n.4436+10A>G) c.4700+10A>G (n.4700+10A>G) n.85+10A>G c.4706+10A>G (n.4706+10A>G) c.2831+10A>G (n.2831+10A>G) | dbSNP gnomAD v4 |
| 6 | g.129342477_129342478insAA | CA2680324660 | LAMA2 | c.4436+10_4436+11insAA (n.4436+10_4436+11insAA) c.4700+10_4700+11insAA (n.4700+10_4700+11insAA) n.85+10_85+11insAA c.4706+10_4706+11insAA (n.4706+10_4706+11insAA) c.2831+10_2831+11insAA (n.2831+10_2831+11insAA) | gnomAD v4 |
| 6 | g.129342478G>A | CA2680324661 | LAMA2 | c.4436+11G>A (n.4436+11G>A) c.4700+11G>A (n.4700+11G>A) n.85+11G>A c.4706+11G>A (n.4706+11G>A) c.2831+11G>A (n.2831+11G>A) | ClinVar gnomAD v4 |
| 6 | g.129342481A>G | CA2680324662 | LAMA2 | c.4436+14A>G (n.4436+14A>G) c.4700+14A>G (n.4700+14A>G) n.85+14A>G c.4706+14A>G (n.4706+14A>G) c.2831+14A>G (n.2831+14A>G) | gnomAD v4 |
| 6 | g.129342483A= | CA1663123500 | LAMA2 | c.4436+16A= (n.4436+16A=) c.4700+16A= (n.4700+16A=) n.85+16A= c.4706+16A= (n.4706+16A=) c.2831+16A= (n.2831+16A=) | |
| 6 | g.129342483A>G | CA2680324663 | LAMA2 | c.4436+16A>G (n.4436+16A>G) c.4700+16A>G (n.4700+16A>G) n.85+16A>G c.4706+16A>G (n.4706+16A>G) c.2831+16A>G (n.2831+16A>G) | gnomAD v4 |
| 6 | g.129342483A>T | CA570044409 | LAMA2 | c.4436+16A>T (n.4436+16A>T) c.4700+16A>T (n.4700+16A>T) n.85+16A>T c.4706+16A>T (n.4706+16A>T) c.2831+16A>T (n.2831+16A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342485A= | CA1663123503 | LAMA2 | c.4436+18A= (n.4436+18A=) c.4700+18A= (n.4700+18A=) n.85+18A= c.4706+18A= (n.4706+18A=) c.2831+18A= (n.2831+18A=) | |
| 6 | g.129342485A>G | CA3993541 | LAMA2 | c.4436+18A>G (n.4436+18A>G) c.4700+18A>G (n.4700+18A>G) n.85+18A>G c.4706+18A>G (n.4706+18A>G) c.2831+18A>G (n.2831+18A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342486_129342489del | CA2830536076 | LAMA2 | c.4436+19_4436+22del (n.4436+19_4436+22del) c.4700+19_4700+22del (n.4700+19_4700+22del) n.85+19_85+22del c.4706+19_4706+22del (n.4706+19_4706+22del) c.2831+19_2831+22del (n.2831+19_2831+22del) | |
| 6 | g.129342486A= | CA1663123507 | LAMA2 | c.4436+19A= (n.4436+19A=) c.4700+19A= (n.4700+19A=) n.85+19A= c.4706+19A= (n.4706+19A=) c.2831+19A= (n.2831+19A=) | |
| 6 | g.129342486A>G | CA3993542 | LAMA2 | c.4436+19A>G (n.4436+19A>G) c.4700+19A>G (n.4700+19A>G) n.85+19A>G c.4706+19A>G (n.4706+19A>G) c.2831+19A>G (n.2831+19A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.129342487C>A | CA570044419 | LAMA2 | c.4436+20C>A (n.4436+20C>A) c.4700+20C>A (n.4700+20C>A) n.85+20C>A c.4706+20C>A (n.4706+20C>A) c.2831+20C>A (n.2831+20C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.129342487C= | CA1663123508 | LAMA2 | c.4436+20C= (n.4436+20C=) c.4700+20C= (n.4700+20C=) n.85+20C= c.4706+20C= (n.4706+20C=) c.2831+20C= (n.2831+20C=) |