Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129427799_129427800delCA2580075045LAMA2c.5913_5914del (p.Gln1972GlufsTer7)
c.6177_6178del (p.Gln2060GlufsTer7)
c.6183_6184del (p.Gln2062GlufsTer7)
c.4308_4309del (p.Gln1437GlufsTer7)
 ClinVar
6g.129427800C>ACA365623963LAMA2c.5914C>A (p.Gln1972Lys)
c.6178C>A (p.Gln2060Lys)
c.6184C>A (p.Gln2062Lys)
c.4309C>A (p.Gln1437Lys)
6g.129427800C=CA1663161627LAMA2c.5914C= (p.Gln1972=)
c.6178C= (p.Gln2060=)
c.6184C= (p.Gln2062=)
c.4309C= (p.Gln1437=)
6g.129427800C>GCA365623964LAMA2c.5914C>G (p.Gln1972Glu)
c.6178C>G (p.Gln2060Glu)
c.6184C>G (p.Gln2062Glu)
c.4309C>G (p.Gln1437Glu)
6g.129427800C>TCA220776LAMA2c.5914C>T (p.Gln1972Ter)
c.6178C>T (p.Gln2060Ter)
c.6184C>T (p.Gln2062Ter)
c.4309C>T (p.Gln1437Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129427801A=CA1663161636LAMA2c.5915A= (p.Gln1972=)
c.6179A= (p.Gln2060=)
c.6185A= (p.Gln2062=)
c.4310A= (p.Gln1437=)
6g.129427801A>CCA365623965LAMA2c.5915A>C (p.Gln1972Pro)
c.6179A>C (p.Gln2060Pro)
c.6185A>C (p.Gln2062Pro)
c.4310A>C (p.Gln1437Pro)
6g.129427801A>GCA365623966LAMA2c.5915A>G (p.Gln1972Arg)
c.6179A>G (p.Gln2060Arg)
c.6185A>G (p.Gln2062Arg)
c.4310A>G (p.Gln1437Arg)
 dbSNP
6g.129427801A>TCA365623967LAMA2c.5915A>T (p.Gln1972Leu)
c.6179A>T (p.Gln2060Leu)
c.6185A>T (p.Gln2062Leu)
c.4310A>T (p.Gln1437Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427802G>ACA451930729LAMA2c.5916G>A (p.Gln1972=)
c.6180G>A (p.Gln2060=)
c.6186G>A (p.Gln2062=)
c.4311G>A (p.Gln1437=)
6g.129427802G>CCA365623968LAMA2c.5916G>C (p.Gln1972His)
c.6180G>C (p.Gln2060His)
c.6186G>C (p.Gln2062His)
c.4311G>C (p.Gln1437His)
6g.129427802G>TCA365623969LAMA2c.5916G>T (p.Gln1972His)
c.6180G>T (p.Gln2060His)
c.6186G>T (p.Gln2062His)
c.4311G>T (p.Gln1437His)
6g.129427803A>CCA365623970LAMA2c.5917A>C (p.Lys1973Gln)
c.6181A>C (p.Lys2061Gln)
c.6187A>C (p.Lys2063Gln)
c.4312A>C (p.Lys1438Gln)
6g.129427803A>GCA365623971LAMA2c.5917A>G (p.Lys1973Glu)
c.6181A>G (p.Lys2061Glu)
c.6187A>G (p.Lys2063Glu)
c.4312A>G (p.Lys1438Glu)
6g.129427803A>TCA365623972LAMA2c.5917A>T (p.Lys1973Ter)
c.6181A>T (p.Lys2061Ter)
c.6187A>T (p.Lys2063Ter)
c.4312A>T (p.Lys1438Ter)
6g.129427804A>CCA365623974LAMA2c.5918A>C (p.Lys1973Thr)
c.6182A>C (p.Lys2061Thr)
c.6188A>C (p.Lys2063Thr)
c.4313A>C (p.Lys1438Thr)
6g.129427804A>GCA365623975LAMA2c.5918A>G (p.Lys1973Arg)
c.6182A>G (p.Lys2061Arg)
c.6188A>G (p.Lys2063Arg)
c.4313A>G (p.Lys1438Arg)
6g.129427804A>TCA365623973LAMA2c.5918A>T (p.Lys1973Ile)
c.6182A>T (p.Lys2061Ile)
c.6188A>T (p.Lys2063Ile)
c.4313A>T (p.Lys1438Ile)
6g.129427805A>CCA365623976LAMA2c.5919A>C (p.Lys1973Asn)
c.6183A>C (p.Lys2061Asn)
c.6189A>C (p.Lys2063Asn)
c.4314A>C (p.Lys1438Asn)
6g.129427805A>GCA451930744LAMA2c.5919A>G (p.Lys1973=)
c.6183A>G (p.Lys2061=)
c.6189A>G (p.Lys2063=)
c.4314A>G (p.Lys1438=)
 gnomAD v4
6g.129427805A>TCA365623977LAMA2c.5919A>T (p.Lys1973Asn)
c.6183A>T (p.Lys2061Asn)
c.6189A>T (p.Lys2063Asn)
c.4314A>T (p.Lys1438Asn)
6g.129427806A>CCA365623978LAMA2c.5920A>C (p.Ser1974Arg)
c.6184A>C (p.Ser2062Arg)
c.6190A>C (p.Ser2064Arg)
c.4315A>C (p.Ser1439Arg)
6g.129427806A>GCA365623979LAMA2c.5920A>G (p.Ser1974Gly)
c.6184A>G (p.Ser2062Gly)
c.6190A>G (p.Ser2064Gly)
c.4315A>G (p.Ser1439Gly)
6g.129427806A>TCA365623980LAMA2c.5920A>T (p.Ser1974Cys)
c.6184A>T (p.Ser2062Cys)
c.6190A>T (p.Ser2064Cys)
c.4315A>T (p.Ser1439Cys)
 gnomAD v4
6g.129427807G>ACA365623981LAMA2c.5921G>A (p.Ser1974Asn)
c.6185G>A (p.Ser2062Asn)
c.6191G>A (p.Ser2064Asn)
c.4316G>A (p.Ser1439Asn)
6g.129427807G>CCA3994029LAMA2c.5921G>C (p.Ser1974Thr)
c.6185G>C (p.Ser2062Thr)
c.6191G>C (p.Ser2064Thr)
c.4316G>C (p.Ser1439Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427807G=CA1663161648LAMA2c.5921G= (p.Ser1974=)
c.6185G= (p.Ser2062=)
c.6191G= (p.Ser2064=)
c.4316G= (p.Ser1439=)
6g.129427807G>TCA365623982LAMA2c.5921G>T (p.Ser1974Ile)
c.6185G>T (p.Ser2062Ile)
c.6191G>T (p.Ser2064Ile)
c.4316G>T (p.Ser1439Ile)
 gnomAD v4
6g.129427808C>ACA365623983LAMA2c.5922C>A (p.Ser1974Arg)
c.6186C>A (p.Ser2062Arg)
c.6192C>A (p.Ser2064Arg)
c.4317C>A (p.Ser1439Arg)
 COSMIC
6g.129427808C>GCA365623984LAMA2c.5922C>G (p.Ser1974Arg)
c.6186C>G (p.Ser2062Arg)
c.6192C>G (p.Ser2064Arg)
c.4317C>G (p.Ser1439Arg)
6g.129427808C>TCA451930763LAMA2c.5922C>T (p.Ser1974=)
c.6186C>T (p.Ser2062=)
c.6192C>T (p.Ser2064=)
c.4317C>T (p.Ser1439=)
6g.129427809T>ACA365623985LAMA2c.5923T>A (p.Phe1975Ile)
c.6187T>A (p.Phe2063Ile)
c.6193T>A (p.Phe2065Ile)
c.4318T>A (p.Phe1440Ile)
6g.129427809T>CCA365623986LAMA2c.5923T>C (p.Phe1975Leu)
c.6187T>C (p.Phe2063Leu)
c.6193T>C (p.Phe2065Leu)
c.4318T>C (p.Phe1440Leu)
6g.129427809T>GCA3994030LAMA2c.5923T>G (p.Phe1975Val)
c.6187T>G (p.Phe2063Val)
c.6193T>G (p.Phe2065Val)
c.4318T>G (p.Phe1440Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427809T=CA1663161652LAMA2c.5923T= (p.Phe1975=)
c.6187T= (p.Phe2063=)
c.6193T= (p.Phe2065=)
c.4318T= (p.Phe1440=)
6g.129427810T>ACA365623989LAMA2c.5924T>A (p.Phe1975Tyr)
c.6188T>A (p.Phe2063Tyr)
c.6194T>A (p.Phe2065Tyr)
c.4319T>A (p.Phe1440Tyr)
6g.129427810T>CCA365623988LAMA2c.5924T>C (p.Phe1975Ser)
c.6188T>C (p.Phe2063Ser)
c.6194T>C (p.Phe2065Ser)
c.4319T>C (p.Phe1440Ser)
6g.129427810T>GCA365623987LAMA2c.5924T>G (p.Phe1975Cys)
c.6188T>G (p.Phe2063Cys)
c.6194T>G (p.Phe2065Cys)
c.4319T>G (p.Phe1440Cys)
6g.129427811C>ACA365623990LAMA2c.5925C>A (p.Phe1975Leu)
c.6189C>A (p.Phe2063Leu)
c.6195C>A (p.Phe2065Leu)
c.4320C>A (p.Phe1440Leu)
6g.129427811C=CA1663161659LAMA2c.5925C= (p.Phe1975=)
c.6189C= (p.Phe2063=)
c.6195C= (p.Phe2065=)
c.4320C= (p.Phe1440=)
6g.129427811C>GCA365623991LAMA2c.5925C>G (p.Phe1975Leu)
c.6189C>G (p.Phe2063Leu)
c.6195C>G (p.Phe2065Leu)
c.4320C>G (p.Phe1440Leu)
6g.129427811C>TCA451930771LAMA2c.5925C>T (p.Phe1975=)
c.6189C>T (p.Phe2063=)
c.6195C>T (p.Phe2065=)
c.4320C>T (p.Phe1440=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129427812A=CA1663161662LAMA2c.5926A= (p.Arg1976=)
c.6190A= (p.Arg2064=)
c.6196A= (p.Arg2066=)
c.4321A= (p.Arg1441=)
6g.129427812A>CCA451930776LAMA2c.5926A>C (p.Arg1976=)
c.6190A>C (p.Arg2064=)
c.6196A>C (p.Arg2066=)
c.4321A>C (p.Arg1441=)
6g.129427812A>GCA365623992LAMA2c.5926A>G (p.Arg1976Gly)
c.6190A>G (p.Arg2064Gly)
c.6196A>G (p.Arg2066Gly)
c.4321A>G (p.Arg1441Gly)
6g.129427812A>TCA3994031LAMA2c.5926A>T (p.Arg1976Trp)
c.6190A>T (p.Arg2064Trp)
c.6196A>T (p.Arg2066Trp)
c.4321A>T (p.Arg1441Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427813G>ACA365623993LAMA2c.5927G>A (p.Arg1976Lys)
c.6191G>A (p.Arg2064Lys)
c.6197G>A (p.Arg2066Lys)
c.4322G>A (p.Arg1441Lys)
6g.129427813G>CCA365623994LAMA2c.5927G>C (p.Arg1976Thr)
c.6191G>C (p.Arg2064Thr)
c.6197G>C (p.Arg2066Thr)
c.4322G>C (p.Arg1441Thr)
6g.129427813G>TCA365623995LAMA2c.5927G>T (p.Arg1976Met)
c.6191G>T (p.Arg2064Met)
c.6197G>T (p.Arg2066Met)
c.4322G>T (p.Arg1441Met)
6g.129427814G>ACA451930784LAMA2c.5928G>A (p.Arg1976=)
c.6192G>A (p.Arg2064=)
c.6198G>A (p.Arg2066=)
c.4323G>A (p.Arg1441=)
 ClinVar dbSNP
6g.129427814G>CCA365623996LAMA2c.5928G>C (p.Arg1976Ser)
c.6192G>C (p.Arg2064Ser)
c.6198G>C (p.Arg2066Ser)
c.4323G>C (p.Arg1441Ser)
6g.129427814G>TCA365623997LAMA2c.5928G>T (p.Arg1976Ser)
c.6192G>T (p.Arg2064Ser)
c.6198G>T (p.Arg2066Ser)
c.4323G>T (p.Arg1441Ser)
6g.129427815A>CCA365623998LAMA2c.5929A>C (p.Ile1977Leu)
c.6193A>C (p.Ile2065Leu)
c.6199A>C (p.Ile2067Leu)
c.4324A>C (p.Ile1442Leu)
6g.129427815A>GCA365623999LAMA2c.5929A>G (p.Ile1977Val)
c.6193A>G (p.Ile2065Val)
c.6199A>G (p.Ile2067Val)
c.4324A>G (p.Ile1442Val)
 ClinVar dbSNP gnomAD v4
6g.129427815A>TCA365624000LAMA2c.5929A>T (p.Ile1977Phe)
c.6193A>T (p.Ile2065Phe)
c.6199A>T (p.Ile2067Phe)
c.4324A>T (p.Ile1442Phe)
6g.129427816T>ACA365624001LAMA2c.5930T>A (p.Ile1977Asn)
c.6194T>A (p.Ile2065Asn)
c.6200T>A (p.Ile2067Asn)
c.4325T>A (p.Ile1442Asn)
6g.129427816T>CCA365624003LAMA2c.5930T>C (p.Ile1977Thr)
c.6194T>C (p.Ile2065Thr)
c.6200T>C (p.Ile2067Thr)
c.4325T>C (p.Ile1442Thr)
 dbSNP
6g.129427816T>GCA365624002LAMA2c.5930T>G (p.Ile1977Ser)
c.6194T>G (p.Ile2065Ser)
c.6200T>G (p.Ile2067Ser)
c.4325T>G (p.Ile1442Ser)
6g.129427816T=CA1663161668LAMA2c.5930T= (p.Ile1977=)
c.6194T= (p.Ile2065=)
c.6200T= (p.Ile2067=)
c.4325T= (p.Ile1442=)
6g.129427817T>ACA451930790LAMA2c.5931T>A (p.Ile1977=)
c.6195T>A (p.Ile2065=)
c.6201T>A (p.Ile2067=)
c.4326T>A (p.Ile1442=)
 gnomAD v4
6g.129427817T>CCA451930792LAMA2c.5931T>C (p.Ile1977=)
c.6195T>C (p.Ile2065=)
c.6201T>C (p.Ile2067=)
c.4326T>C (p.Ile1442=)
 dbSNP
6g.129427817T>GCA365624004LAMA2c.5931T>G (p.Ile1977Met)
c.6195T>G (p.Ile2065Met)
c.6201T>G (p.Ile2067Met)
c.4326T>G (p.Ile1442Met)
6g.129427817T=CA1663161676LAMA2c.5931T= (p.Ile1977=)
c.6195T= (p.Ile2065=)
c.6201T= (p.Ile2067=)
c.4326T= (p.Ile1442=)
6g.129427818C>ACA3994033LAMA2c.5932C>A (p.Leu1978Ile)
c.6196C>A (p.Leu2066Ile)
c.6202C>A (p.Leu2068Ile)
c.4327C>A (p.Leu1443Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129427818C=CA1663161683LAMA2c.5932C= (p.Leu1978=)
c.6196C= (p.Leu2066=)
c.6202C= (p.Leu2068=)
c.4327C= (p.Leu1443=)
6g.129427818C>GCA365624005LAMA2c.5932C>G (p.Leu1978Val)
c.6196C>G (p.Leu2066Val)
c.6202C>G (p.Leu2068Val)
c.4327C>G (p.Leu1443Val)
6g.129427818C>TCA3994032LAMA2c.5932C>T (p.Leu1978Phe)
c.6196C>T (p.Leu2066Phe)
c.6202C>T (p.Leu2068Phe)
c.4327C>T (p.Leu1443Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.129427819T>ACA365624006LAMA2c.5933T>A (p.Leu1978His)
c.6197T>A (p.Leu2066His)
c.6203T>A (p.Leu2068His)
c.4328T>A (p.Leu1443His)
6g.129427819T>CCA365624007LAMA2c.5933T>C (p.Leu1978Pro)
c.6197T>C (p.Leu2066Pro)
c.6203T>C (p.Leu2068Pro)
c.4328T>C (p.Leu1443Pro)
 dbSNP gnomAD v3 gnomAD v4
6g.129427819T>GCA365624008LAMA2c.5933T>G (p.Leu1978Arg)
c.6197T>G (p.Leu2066Arg)
c.6203T>G (p.Leu2068Arg)
c.4328T>G (p.Leu1443Arg)
6g.129427819T=CA1663161684LAMA2c.5933T= (p.Leu1978=)
c.6197T= (p.Leu2066=)
c.6203T= (p.Leu2068=)
c.4328T= (p.Leu1443=)
6g.129427820T>ACA451930799LAMA2c.5934T>A (p.Leu1978=)
c.6198T>A (p.Leu2066=)
c.6204T>A (p.Leu2068=)
c.4329T>A (p.Leu1443=)
6g.129427820T>CCA451930801LAMA2c.5934T>C (p.Leu1978=)
c.6198T>C (p.Leu2066=)
c.6204T>C (p.Leu2068=)
c.4329T>C (p.Leu1443=)
6g.129427820T>GCA451930803LAMA2c.5934T>G (p.Leu1978=)
c.6198T>G (p.Leu2066=)
c.6204T>G (p.Leu2068=)
c.4329T>G (p.Leu1443=)
 dbSNP
6g.129427820T=CA1663161688LAMA2c.5934T= (p.Leu1978=)
c.6198T= (p.Leu2066=)
c.6204T= (p.Leu2068=)
c.4329T= (p.Leu1443=)
6g.129427821A=CA1663161690LAMA2c.5935A= (p.Asn1979=)
c.6199A= (p.Asn2067=)
c.6205A= (p.Asn2069=)
c.4330A= (p.Asn1444=)
6g.129427821A>CCA365624009LAMA2c.5935A>C (p.Asn1979His)
c.6199A>C (p.Asn2067His)
c.6205A>C (p.Asn2069His)
c.4330A>C (p.Asn1444His)
6g.129427821A>GCA365624010LAMA2c.5935A>G (p.Asn1979Asp)
c.6199A>G (p.Asn2067Asp)
c.6205A>G (p.Asn2069Asp)
c.4330A>G (p.Asn1444Asp)
 COSMIC
6g.129427821A>TCA365624011LAMA2c.5935A>T (p.Asn1979Tyr)
c.6199A>T (p.Asn2067Tyr)
c.6205A>T (p.Asn2069Tyr)
c.4330A>T (p.Asn1444Tyr)
 ClinVar dbSNP gnomAD v4
6g.129427822A=CA1663161693LAMA2c.5936A= (p.Asn1979=)
c.6200A= (p.Asn2067=)
c.6206A= (p.Asn2069=)
c.4331A= (p.Asn1444=)
6g.129427822A>CCA365624012LAMA2c.5936A>C (p.Asn1979Thr)
c.6200A>C (p.Asn2067Thr)
c.6206A>C (p.Asn2069Thr)
c.4331A>C (p.Asn1444Thr)
6g.129427822A>GCA365624013LAMA2c.5936A>G (p.Asn1979Ser)
c.6200A>G (p.Asn2067Ser)
c.6206A>G (p.Asn2069Ser)
c.4331A>G (p.Asn1444Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427822A>TCA365624014LAMA2c.5936A>T (p.Asn1979Ile)
c.6200A>T (p.Asn2067Ile)
c.6206A>T (p.Asn2069Ile)
c.4331A>T (p.Asn1444Ile)
6g.129427823C>ACA365624015LAMA2c.5937C>A (p.Asn1979Lys)
c.6201C>A (p.Asn2067Lys)
c.6207C>A (p.Asn2069Lys)
c.4332C>A (p.Asn1444Lys)
6g.129427823C=CA1663161695LAMA2c.5937C= (p.Asn1979=)
c.6201C= (p.Asn2067=)
c.6207C= (p.Asn2069=)
c.4332C= (p.Asn1444=)
6g.129427823C>GCA146909063LAMA2c.5937C>G (p.Asn1979Lys)
c.6201C>G (p.Asn2067Lys)
c.6207C>G (p.Asn2069Lys)
c.4332C>G (p.Asn1444Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427823C>TCA3994034LAMA2c.5937C>T (p.Asn1979=)
c.6201C>T (p.Asn2067=)
c.6207C>T (p.Asn2069=)
c.4332C>T (p.Asn1444=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129427824G>ACA3994035LAMA2c.5938G>A (p.Glu1980Lys)
c.6202G>A (p.Glu2068Lys)
c.6208G>A (p.Glu2070Lys)
c.4333G>A (p.Glu1445Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129427824G>CCA365624017LAMA2c.5938G>C (p.Glu1980Gln)
c.6202G>C (p.Glu2068Gln)
c.6208G>C (p.Glu2070Gln)
c.4333G>C (p.Glu1445Gln)
6g.129427824G=CA1663161699LAMA2c.5938G= (p.Glu1980=)
c.6202G= (p.Glu2068=)
c.6208G= (p.Glu2070=)
c.4333G= (p.Glu1445=)
6g.129427824G>TCA365624016LAMA2c.5938G>T (p.Glu1980Ter)
c.6202G>T (p.Glu2068Ter)
c.6208G>T (p.Glu2070Ter)
c.4333G>T (p.Glu1445Ter)
6g.129427825A>CCA365624018LAMA2c.5939A>C (p.Glu1980Ala)
c.6203A>C (p.Glu2068Ala)
c.6209A>C (p.Glu2070Ala)
c.4334A>C (p.Glu1445Ala)
6g.129427825A>GCA365624019LAMA2c.5939A>G (p.Glu1980Gly)
c.6203A>G (p.Glu2068Gly)
c.6209A>G (p.Glu2070Gly)
c.4334A>G (p.Glu1445Gly)
6g.129427825A>TCA365624020LAMA2c.5939A>T (p.Glu1980Val)
c.6203A>T (p.Glu2068Val)
c.6209A>T (p.Glu2070Val)
c.4334A>T (p.Glu1445Val)
 COSMIC
6g.129427828_129427832delCA2578737525LAMA2c.5942_5946del (p.Ala1981GlufsTer5)
c.6206_6210del (p.Ala2069GlufsTer5)
c.6212_6216del (p.Ala2071GlufsTer5)
c.4337_4341del (p.Ala1446GlufsTer5)
6g.129427826A=CA1663161707LAMA2c.5940A= (p.Glu1980=)
c.6204A= (p.Glu2068=)
c.6210A= (p.Glu2070=)
c.4335A= (p.Glu1445=)
6g.129427826A>CCA365624021LAMA2c.5940A>C (p.Glu1980Asp)
c.6204A>C (p.Glu2068Asp)
c.6210A>C (p.Glu2070Asp)
c.4335A>C (p.Glu1445Asp)
6g.129427826A>GCA451930849LAMA2c.5940A>G (p.Glu1980=)
c.6204A>G (p.Glu2068=)
c.6210A>G (p.Glu2070=)
c.4335A>G (p.Glu1445=)
 ClinVar dbSNP
6g.129427826A>TCA365624022LAMA2c.5940A>T (p.Glu1980Asp)
c.6204A>T (p.Glu2068Asp)
c.6210A>T (p.Glu2070Asp)
c.4335A>T (p.Glu1445Asp)
6g.129427827G>ACA3994036LAMA2c.5941G>A (p.Ala1981Thr)
c.6205G>A (p.Ala2069Thr)
c.6211G>A (p.Ala2071Thr)
c.4336G>A (p.Ala1446Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427827G>CCA365624023LAMA2c.5941G>C (p.Ala1981Pro)
c.6205G>C (p.Ala2069Pro)
c.6211G>C (p.Ala2071Pro)
c.4336G>C (p.Ala1446Pro)
6g.129427827G=CA1663161710LAMA2c.5941G= (p.Ala1981=)
c.6205G= (p.Ala2069=)
c.6211G= (p.Ala2071=)
c.4336G= (p.Ala1446=)
6g.129427827G>TCA365624024LAMA2c.5941G>T (p.Ala1981Ser)
c.6205G>T (p.Ala2069Ser)
c.6211G>T (p.Ala2071Ser)
c.4336G>T (p.Ala1446Ser)
6g.129427828C>ACA365624025LAMA2c.5942C>A (p.Ala1981Asp)
c.6206C>A (p.Ala2069Asp)
c.6212C>A (p.Ala2071Asp)
c.4337C>A (p.Ala1446Asp)
6g.129427828C>GCA365624026LAMA2c.5942C>G (p.Ala1981Gly)
c.6206C>G (p.Ala2069Gly)
c.6212C>G (p.Ala2071Gly)
c.4337C>G (p.Ala1446Gly)
6g.129427828C>TCA365624027LAMA2c.5942C>T (p.Ala1981Val)
c.6206C>T (p.Ala2069Val)
c.6212C>T (p.Ala2071Val)
c.4337C>T (p.Ala1446Val)
6g.129427829C>ACA451930859LAMA2c.5943C>A (p.Ala1981=)
c.6207C>A (p.Ala2069=)
c.6213C>A (p.Ala2071=)
c.4338C>A (p.Ala1446=)
6g.129427829C=CA1663161716LAMA2c.5943C= (p.Ala1981=)
c.6207C= (p.Ala2069=)
c.6213C= (p.Ala2071=)
c.4338C= (p.Ala1446=)
6g.129427829C>GCA451930863LAMA2c.5943C>G (p.Ala1981=)
c.6207C>G (p.Ala2069=)
c.6213C>G (p.Ala2071=)
c.4338C>G (p.Ala1446=)
6g.129427829C>TCA451930865LAMA2c.5943C>T (p.Ala1981=)
c.6207C>T (p.Ala2069=)
c.6213C>T (p.Ala2071=)
c.4338C>T (p.Ala1446=)
 dbSNP
6g.129427830A=CA1663161719LAMA2c.5944A= (p.Lys1982=)
c.6208A= (p.Lys2070=)
c.6214A= (p.Lys2072=)
c.4339A= (p.Lys1447=)
6g.129427830A>CCA365624028LAMA2c.5944A>C (p.Lys1982Gln)
c.6208A>C (p.Lys2070Gln)
c.6214A>C (p.Lys2072Gln)
c.4339A>C (p.Lys1447Gln)
6g.129427830A>GCA365624029LAMA2c.5944A>G (p.Lys1982Glu)
c.6208A>G (p.Lys2070Glu)
c.6214A>G (p.Lys2072Glu)
c.4339A>G (p.Lys1447Glu)
6g.129427830A>TCA365624030LAMA2c.5944A>T (p.Lys1982Ter)
c.6208A>T (p.Lys2070Ter)
c.6214A>T (p.Lys2072Ter)
c.4339A>T (p.Lys1447Ter)
 ClinVar dbSNP
6g.129427831A=CA1663161729LAMA2c.5945A= (p.Lys1982=)
c.6209A= (p.Lys2070=)
c.6215A= (p.Lys2072=)
c.4340A= (p.Lys1447=)
6g.129427831A>CCA365624032LAMA2c.5945A>C (p.Lys1982Thr)
c.6209A>C (p.Lys2070Thr)
c.6215A>C (p.Lys2072Thr)
c.4340A>C (p.Lys1447Thr)
6g.129427831A>GCA146909092LAMA2c.5945A>G (p.Lys1982Arg)
c.6209A>G (p.Lys2070Arg)
c.6215A>G (p.Lys2072Arg)
c.4340A>G (p.Lys1447Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427831A>TCA365624031LAMA2c.5945A>T (p.Lys1982Met)
c.6209A>T (p.Lys2070Met)
c.6215A>T (p.Lys2072Met)
c.4340A>T (p.Lys1447Met)
6g.129427832G>ACA451930879LAMA2c.5946G>A (p.Lys1982=)
c.6210G>A (p.Lys2070=)
c.6216G>A (p.Lys2072=)
c.4341G>A (p.Lys1447=)
 dbSNP
6g.129427832G>CCA365624033LAMA2c.5946G>C (p.Lys1982Asn)
c.6210G>C (p.Lys2070Asn)
c.6216G>C (p.Lys2072Asn)
c.4341G>C (p.Lys1447Asn)
6g.129427832G=CA1663161733LAMA2c.5946G= (p.Lys1982=)
c.6210G= (p.Lys2070=)
c.6216G= (p.Lys2072=)
c.4341G= (p.Lys1447=)
6g.129427832G>TCA365624034LAMA2c.5946G>T (p.Lys1982Asn)
c.6210G>T (p.Lys2070Asn)
c.6216G>T (p.Lys2072Asn)
c.4341G>T (p.Lys1447Asn)
6g.129427833A>CCA365624035LAMA2c.5947A>C (p.Lys1983Gln)
c.6211A>C (p.Lys2071Gln)
c.6217A>C (p.Lys2073Gln)
c.4342A>C (p.Lys1448Gln)
 gnomAD v4
6g.129427833A>GCA365624036LAMA2c.5947A>G (p.Lys1983Glu)
c.6211A>G (p.Lys2071Glu)
c.6217A>G (p.Lys2073Glu)
c.4342A>G (p.Lys1448Glu)
6g.129427833A>TCA365624037LAMA2c.5947A>T (p.Lys1983Ter)
c.6211A>T (p.Lys2071Ter)
c.6217A>T (p.Lys2073Ter)
c.4342A>T (p.Lys1448Ter)
 gnomAD v4
6g.129427834A>CCA365624038LAMA2c.5948A>C (p.Lys1983Thr)
c.6212A>C (p.Lys2071Thr)
c.6218A>C (p.Lys2073Thr)
c.4343A>C (p.Lys1448Thr)
6g.129427834A>GCA365624039LAMA2c.5948A>G (p.Lys1983Arg)
c.6212A>G (p.Lys2071Arg)
c.6218A>G (p.Lys2073Arg)
c.4343A>G (p.Lys1448Arg)
6g.129427834A>TCA365624040LAMA2c.5948A>T (p.Lys1983Met)
c.6212A>T (p.Lys2071Met)
c.6218A>T (p.Lys2073Met)
c.4343A>T (p.Lys1448Met)
6g.129427835G>ACA451930890LAMA2c.5949G>A (p.Lys1983=)
c.6213G>A (p.Lys2071=)
c.6219G>A (p.Lys2073=)
c.4344G>A (p.Lys1448=)
6g.129427835G>CCA3994037LAMA2c.5949G>C (p.Lys1983Asn)
c.6213G>C (p.Lys2071Asn)
c.6219G>C (p.Lys2073Asn)
c.4344G>C (p.Lys1448Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427835G=CA1663161742LAMA2c.5949G= (p.Lys1983=)
c.6213G= (p.Lys2071=)
c.6219G= (p.Lys2073=)
c.4344G= (p.Lys1448=)
6g.129427835G>TCA365624041LAMA2c.5949G>T (p.Lys1983Asn)
c.6213G>T (p.Lys2071Asn)
c.6219G>T (p.Lys2073Asn)
c.4344G>T (p.Lys1448Asn)
6g.129427836T>ACA365624042LAMA2c.5950T>A (p.Leu1984Ile)
c.6214T>A (p.Leu2072Ile)
c.6220T>A (p.Leu2074Ile)
c.4345T>A (p.Leu1449Ile)
6g.129427836T>CCA3994038LAMA2c.5950T>C (p.Leu1984=)
c.6214T>C (p.Leu2072=)
c.6220T>C (p.Leu2074=)
c.4345T>C (p.Leu1449=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427836T>GCA365624043LAMA2c.5950T>G (p.Leu1984Val)
c.6214T>G (p.Leu2072Val)
c.6220T>G (p.Leu2074Val)
c.4345T>G (p.Leu1449Val)
6g.129427836T=CA1663161749LAMA2c.5950T= (p.Leu1984=)
c.6214T= (p.Leu2072=)
c.6220T= (p.Leu2074=)
c.4345T= (p.Leu1449=)
6g.129427837T>ACA365624046LAMA2c.5951T>A (p.Leu1984Ter)
c.6215T>A (p.Leu2072Ter)
c.6221T>A (p.Leu2074Ter)
c.4346T>A (p.Leu1449Ter)
6g.129427837T>CCA365624044LAMA2c.5951T>C (p.Leu1984Ser)
c.6215T>C (p.Leu2072Ser)
c.6221T>C (p.Leu2074Ser)
c.4346T>C (p.Leu1449Ser)
6g.129427837T>GCA365624045LAMA2c.5951T>G (p.Leu1984Ter)
c.6215T>G (p.Leu2072Ter)
c.6221T>G (p.Leu2074Ter)
c.4346T>G (p.Leu1449Ter)
6g.129427838A=CA1663161754LAMA2c.5952A= (p.Leu1984=)
c.6216A= (p.Leu2072=)
c.6222A= (p.Leu2074=)
c.4347A= (p.Leu1449=)
6g.129427838A>CCA365624047LAMA2c.5952A>C (p.Leu1984Phe)
c.6216A>C (p.Leu2072Phe)
c.6222A>C (p.Leu2074Phe)
c.4347A>C (p.Leu1449Phe)
6g.129427838A>GCA451930912LAMA2c.5952A>G (p.Leu1984=)
c.6216A>G (p.Leu2072=)
c.6222A>G (p.Leu2074=)
c.4347A>G (p.Leu1449=)
6g.129427838A>TCA365624048LAMA2c.5952A>T (p.Leu1984Phe)
c.6216A>T (p.Leu2072Phe)
c.6222A>T (p.Leu2074Phe)
c.4347A>T (p.Leu1449Phe)
6g.129427838dupCA913109483LAMA2c.5952dup (p.Ala1985SerfsTer3)
c.6216dup (p.Ala2073SerfsTer3)
c.6222dup (p.Ala2075SerfsTer3)
c.4347dup (p.Ala1450SerfsTer3)
6g.129427839G>ACA365624049LAMA2c.5953G>A (p.Ala1985Thr)
c.6217G>A (p.Ala2073Thr)
c.6223G>A (p.Ala2075Thr)
c.4348G>A (p.Ala1450Thr)
6g.129427839G>CCA365624050LAMA2c.5953G>C (p.Ala1985Pro)
c.6217G>C (p.Ala2073Pro)
c.6223G>C (p.Ala2075Pro)
c.4348G>C (p.Ala1450Pro)
6g.129427839G>TCA365624051LAMA2c.5953G>T (p.Ala1985Ser)
c.6217G>T (p.Ala2073Ser)
c.6223G>T (p.Ala2075Ser)
c.4348G>T (p.Ala1450Ser)
 COSMIC
6g.129427840_129427848dupCA658822374LAMA2c.5954_5962dup (p.Asp1987_Val1988insAlaAsnAsp)
c.6218_6226dup (p.Asp2075_Val2076insAlaAsnAsp)
c.6224_6232dup (p.Asp2077_Val2078insAlaAsnAsp)
c.4349_4357dup (p.Asp1452_Val1453insAlaAsnAsp)
 ClinVar dbSNP gnomAD v4
6g.129427840C>ACA365624052LAMA2c.5954C>A (p.Ala1985Glu)
c.6218C>A (p.Ala2073Glu)
c.6224C>A (p.Ala2075Glu)
c.4349C>A (p.Ala1450Glu)
6g.129427840C>GCA365624053LAMA2c.5954C>G (p.Ala1985Gly)
c.6218C>G (p.Ala2073Gly)
c.6224C>G (p.Ala2075Gly)
c.4349C>G (p.Ala1450Gly)
 gnomAD v4
6g.129427840C>TCA365624054LAMA2c.5954C>T (p.Ala1985Val)
c.6218C>T (p.Ala2073Val)
c.6224C>T (p.Ala2075Val)
c.4349C>T (p.Ala1450Val)
 gnomAD v4
6g.129427841A>CCA451930930LAMA2c.5955A>C (p.Ala1985=)
c.6219A>C (p.Ala2073=)
c.6225A>C (p.Ala2075=)
c.4350A>C (p.Ala1450=)
6g.129427841A>GCA451930933LAMA2c.5955A>G (p.Ala1985=)
c.6219A>G (p.Ala2073=)
c.6225A>G (p.Ala2075=)
c.4350A>G (p.Ala1450=)
 ClinVar gnomAD v4
6g.129427841A>TCA451930942LAMA2c.5955A>T (p.Ala1985=)
c.6219A>T (p.Ala2073=)
c.6225A>T (p.Ala2075=)
c.4350A>T (p.Ala1450=)
6g.129427842A>CCA365624055LAMA2c.5956A>C (p.Asn1986His)
c.6220A>C (p.Asn2074His)
c.6226A>C (p.Asn2076His)
c.4351A>C (p.Asn1451His)
6g.129427842A>GCA365624056LAMA2c.5956A>G (p.Asn1986Asp)
c.6220A>G (p.Asn2074Asp)
c.6226A>G (p.Asn2076Asp)
c.4351A>G (p.Asn1451Asp)
6g.129427842A>TCA365624057LAMA2c.5956A>T (p.Asn1986Tyr)
c.6220A>T (p.Asn2074Tyr)
c.6226A>T (p.Asn2076Tyr)
c.4351A>T (p.Asn1451Tyr)
6g.129427843A=CA1663161765LAMA2c.5957A= (p.Asn1986=)
c.6221A= (p.Asn2074=)
c.6227A= (p.Asn2076=)
c.4352A= (p.Asn1451=)
6g.129427843A>CCA365624058LAMA2c.5957A>C (p.Asn1986Thr)
c.6221A>C (p.Asn2074Thr)
c.6227A>C (p.Asn2076Thr)
c.4352A>C (p.Asn1451Thr)
6g.129427843A>GCA365624060LAMA2c.5957A>G (p.Asn1986Ser)
c.6221A>G (p.Asn2074Ser)
c.6227A>G (p.Asn2076Ser)
c.4352A>G (p.Asn1451Ser)
 dbSNP
6g.129427843A>TCA365624059LAMA2c.5957A>T (p.Asn1986Ile)
c.6221A>T (p.Asn2074Ile)
c.6227A>T (p.Asn2076Ile)
c.4352A>T (p.Asn1451Ile)
6g.129427844T>ACA365624061LAMA2c.5958T>A (p.Asn1986Lys)
c.6222T>A (p.Asn2074Lys)
c.6228T>A (p.Asn2076Lys)
c.4353T>A (p.Asn1451Lys)
6g.129427844T>CCA451930959LAMA2c.5958T>C (p.Asn1986=)
c.6222T>C (p.Asn2074=)
c.6228T>C (p.Asn2076=)
c.4353T>C (p.Asn1451=)
 ClinVar dbSNP gnomAD v4
6g.129427844T>GCA365624062LAMA2c.5958T>G (p.Asn1986Lys)
c.6222T>G (p.Asn2074Lys)
c.6228T>G (p.Asn2076Lys)
c.4353T>G (p.Asn1451Lys)
6g.129427845G>ACA365624063LAMA2c.5959G>A (p.Asp1987Asn)
c.6223G>A (p.Asp2075Asn)
c.6229G>A (p.Asp2077Asn)
c.4354G>A (p.Asp1452Asn)
6g.129427845G>CCA365624064LAMA2c.5959G>C (p.Asp1987His)
c.6223G>C (p.Asp2075His)
c.6229G>C (p.Asp2077His)
c.4354G>C (p.Asp1452His)
6g.129427845G>TCA365624065LAMA2c.5959G>T (p.Asp1987Tyr)
c.6223G>T (p.Asp2075Tyr)
c.6229G>T (p.Asp2077Tyr)
c.4354G>T (p.Asp1452Tyr)
6g.129427846A=CA1663161776LAMA2c.5960A= (p.Asp1987=)
c.6224A= (p.Asp2075=)
c.6230A= (p.Asp2077=)
c.4355A= (p.Asp1452=)
6g.129427846A>CCA3994039LAMA2c.5960A>C (p.Asp1987Ala)
c.6224A>C (p.Asp2075Ala)
c.6230A>C (p.Asp2077Ala)
c.4355A>C (p.Asp1452Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427846A>GCA365624066LAMA2c.5960A>G (p.Asp1987Gly)
c.6224A>G (p.Asp2075Gly)
c.6230A>G (p.Asp2077Gly)
c.4355A>G (p.Asp1452Gly)
 dbSNP
6g.129427846A>TCA365624067LAMA2c.5960A>T (p.Asp1987Val)
c.6224A>T (p.Asp2075Val)
c.6230A>T (p.Asp2077Val)
c.4355A>T (p.Asp1452Val)
 gnomAD v4 COSMIC
6g.129427847T>ACA365624068LAMA2c.5961T>A (p.Asp1987Glu)
c.6225T>A (p.Asp2075Glu)
c.6231T>A (p.Asp2077Glu)
c.4356T>A (p.Asp1452Glu)
6g.129427847T>CCA3994040LAMA2c.5961T>C (p.Asp1987=)
c.6225T>C (p.Asp2075=)
c.6231T>C (p.Asp2077=)
c.4356T>C (p.Asp1452=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427847T>GCA365624069LAMA2c.5961T>G (p.Asp1987Glu)
c.6225T>G (p.Asp2075Glu)
c.6231T>G (p.Asp2077Glu)
c.4356T>G (p.Asp1452Glu)
6g.129427847T=CA1663161780LAMA2c.5961T= (p.Asp1987=)
c.6225T= (p.Asp2075=)
c.6231T= (p.Asp2077=)
c.4356T= (p.Asp1452=)
6g.129427848G>ACA365624070LAMA2c.5962G>A (p.Val1988Ile)
c.6226G>A (p.Val2076Ile)
c.6232G>A (p.Val2078Ile)
c.4357G>A (p.Val1453Ile)
6g.129427848G>CCA365624071LAMA2c.5962G>C (p.Val1988Leu)
c.6226G>C (p.Val2076Leu)
c.6232G>C (p.Val2078Leu)
c.4357G>C (p.Val1453Leu)
6g.129427848G=CA1663161787LAMA2c.5962G= (p.Val1988=)
c.6226G= (p.Val2076=)
c.6232G= (p.Val2078=)
c.4357G= (p.Val1453=)
6g.129427848G>TCA3994041LAMA2c.5962G>T (p.Val1988Leu)
c.6226G>T (p.Val2076Leu)
c.6232G>T (p.Val2078Leu)
c.4357G>T (p.Val1453Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427848_129427849delinsTGCA2573052585LAMA2c.5962_5963delinsTG (p.Val1988Ter)
c.6226_6227delinsTG (p.Val2076Ter)
c.6232_6233delinsTG (p.Val2078Ter)
c.4357_4358delinsTG (p.Val1453Ter)
 ClinVar dbSNP
6g.129427849T>ACA365624073LAMA2c.5963T>A (p.Val1988Glu)
c.6227T>A (p.Val2076Glu)
c.6233T>A (p.Val2078Glu)
c.4358T>A (p.Val1453Glu)
6g.129427849T>CCA365624072LAMA2c.5963T>C (p.Val1988Ala)
c.6227T>C (p.Val2076Ala)
c.6233T>C (p.Val2078Ala)
c.4358T>C (p.Val1453Ala)
6g.129427849T>GCA3994042LAMA2c.5963T>G (p.Val1988Gly)
c.6227T>G (p.Val2076Gly)
c.6233T>G (p.Val2078Gly)
c.4358T>G (p.Val1453Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427849T=CA1663161793LAMA2c.5963T= (p.Val1988=)
c.6227T= (p.Val2076=)
c.6233T= (p.Val2078=)
c.4358T= (p.Val1453=)
6g.129427850A=CA1663161801LAMA2c.5964A= (p.Val1988=)
c.6228A= (p.Val2076=)
c.6234A= (p.Val2078=)
c.4359A= (p.Val1453=)
6g.129427850A>CCA451930994LAMA2c.5964A>C (p.Val1988=)
c.6228A>C (p.Val2076=)
c.6234A>C (p.Val2078=)
c.4359A>C (p.Val1453=)
6g.129427850A>GCA451930999LAMA2c.5964A>G (p.Val1988=)
c.6228A>G (p.Val2076=)
c.6234A>G (p.Val2078=)
c.4359A>G (p.Val1453=)
 ClinVar dbSNP gnomAD v4
6g.129427850A>TCA451931001LAMA2c.5964A>T (p.Val1988=)
c.6228A>T (p.Val2076=)
c.6234A>T (p.Val2078=)
c.4359A>T (p.Val1453=)
6g.129427853delCA2680309323LAMA2c.5967del (p.Glu1990LysfsTer6)
c.6231del (p.Glu2078LysfsTer6)
c.6237del (p.Glu2080LysfsTer6)
c.4362del (p.Glu1455LysfsTer6)
 gnomAD v4
6g.129427851A>CCA365624074LAMA2c.5965A>C (p.Lys1989Gln)
c.6229A>C (p.Lys2077Gln)
c.6235A>C (p.Lys2079Gln)
c.4360A>C (p.Lys1454Gln)
6g.129427851A>GCA365624075LAMA2c.5965A>G (p.Lys1989Glu)
c.6229A>G (p.Lys2077Glu)
c.6235A>G (p.Lys2079Glu)
c.4360A>G (p.Lys1454Glu)
6g.129427851A>TCA365624076LAMA2c.5965A>T (p.Lys1989Ter)
c.6229A>T (p.Lys2077Ter)
c.6235A>T (p.Lys2079Ter)
c.4360A>T (p.Lys1454Ter)
6g.129427852A>CCA365624077LAMA2c.5966A>C (p.Lys1989Thr)
c.6230A>C (p.Lys2077Thr)
c.6236A>C (p.Lys2079Thr)
c.4361A>C (p.Lys1454Thr)
6g.129427852A>GCA365624078LAMA2c.5966A>G (p.Lys1989Arg)
c.6230A>G (p.Lys2077Arg)
c.6236A>G (p.Lys2079Arg)
c.4361A>G (p.Lys1454Arg)
6g.129427852A>TCA365624079LAMA2c.5966A>T (p.Lys1989Ile)
c.6230A>T (p.Lys2077Ile)
c.6236A>T (p.Lys2079Ile)
c.4361A>T (p.Lys1454Ile)
6g.129427853A>CCA365624080LAMA2c.5967A>C (p.Lys1989Asn)
c.6231A>C (p.Lys2077Asn)
c.6237A>C (p.Lys2079Asn)
c.4362A>C (p.Lys1454Asn)
6g.129427853A>GCA451931016LAMA2c.5967A>G (p.Lys1989=)
c.6231A>G (p.Lys2077=)
c.6237A>G (p.Lys2079=)
c.4362A>G (p.Lys1454=)
 gnomAD v4
6g.129427853A>TCA365624081LAMA2c.5967A>T (p.Lys1989Asn)
c.6231A>T (p.Lys2077Asn)
c.6237A>T (p.Lys2079Asn)
c.4362A>T (p.Lys1454Asn)
6g.129427854G>ACA365624082LAMA2c.5968G>A (p.Glu1990Lys)
c.6232G>A (p.Glu2078Lys)
c.6238G>A (p.Glu2080Lys)
c.4363G>A (p.Glu1455Lys)
 gnomAD v4
6g.129427854G>CCA365624083LAMA2c.5968G>C (p.Glu1990Gln)
c.6232G>C (p.Glu2078Gln)
c.6238G>C (p.Glu2080Gln)
c.4363G>C (p.Glu1455Gln)
 gnomAD v4
6g.129427854G=CA1663161811LAMA2c.5968G= (p.Glu1990=)
c.6232G= (p.Glu2078=)
c.6238G= (p.Glu2080=)
c.4363G= (p.Glu1455=)
6g.129427854G>TCA365624084LAMA2c.5968G>T (p.Glu1990Ter)
c.6232G>T (p.Glu2078Ter)
c.6238G>T (p.Glu2080Ter)
c.4363G>T (p.Glu1455Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129427855delCA2680309324LAMA2c.5968+1del
c.6232+1del
c.6238+1del
c.4363+1del
 gnomAD v4
6g.129427855G>ACA365624087LAMA2c.5968+1G>A (n.5968+1G>A)
c.6232+1G>A (n.6232+1G>A)
c.6238+1G>A (n.6238+1G>A)
c.4363+1G>A (n.4363+1G>A)
 ClinVar dbSNP
6g.129427855G>CCA365624086LAMA2c.5968+1G>C (n.5968+1G>C)
c.6232+1G>C (n.6232+1G>C)
c.6238+1G>C (n.6238+1G>C)
c.4363+1G>C (n.4363+1G>C)
6g.129427855G=CA1663161814LAMA2c.5968+1G= (n.5968+1G=)
c.6232+1G= (n.6232+1G=)
c.6238+1G= (n.6238+1G=)
c.4363+1G= (n.4363+1G=)
6g.129427855G>TCA365624085LAMA2c.5968+1G>T (n.5968+1G>T)
c.6232+1G>T (n.6232+1G>T)
c.6238+1G>T (n.6238+1G>T)
c.4363+1G>T (n.4363+1G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.129427856T>ACA365624088LAMA2c.5968+2T>A (n.5968+2T>A)
c.6232+2T>A (n.6232+2T>A)
c.6238+2T>A (n.6238+2T>A)
c.4363+2T>A (n.4363+2T>A)
6g.129427856T>CCA365624089LAMA2c.5968+2T>C (n.5968+2T>C)
c.6232+2T>C (n.6232+2T>C)
c.6238+2T>C (n.6238+2T>C)
c.4363+2T>C (n.4363+2T>C)
6g.129427856T>GCA365624090LAMA2c.5968+2T>G (n.5968+2T>G)
c.6232+2T>G (n.6232+2T>G)
c.6238+2T>G (n.6238+2T>G)
c.4363+2T>G (n.4363+2T>G)
6g.129427857C>ACA2680309325LAMA2c.5968+3C>A (n.5968+3C>A)
c.6232+3C>A (n.6232+3C>A)
c.6238+3C>A (n.6238+3C>A)
c.4363+3C>A (n.4363+3C>A)
 gnomAD v4
6g.129427858A>GCA2680309326LAMA2c.5968+4A>G (n.5968+4A>G)
c.6232+4A>G (n.6232+4A>G)
c.6238+4A>G (n.6238+4A>G)
c.4363+4A>G (n.4363+4A>G)
 gnomAD v4
6g.129427858_129427860delinsAGTCA1663161817LAMA2c.5968+4_5968+6delinsAGT (n.5968+4_5968+6delinsAGT)
c.6232+4_6232+6delinsAGT (n.6232+4_6232+6delinsAGT)
c.6238+4_6238+6delinsAGT (n.6238+4_6238+6delinsAGT)
c.4363+4_4363+6delinsAGT (n.4363+4_4363+6delinsAGT)
6g.129427859G>ACA818850035LAMA2c.5968+5G>A (n.5968+5G>A)
c.6232+5G>A (n.6232+5G>A)
c.6238+5G>A (n.6238+5G>A)
c.4363+5G>A (n.4363+5G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129427859G>CCA1139532851LAMA2c.5968+5G>C (n.5968+5G>C)
c.6232+5G>C (n.6232+5G>C)
c.6238+5G>C (n.6238+5G>C)
c.4363+5G>C (n.4363+5G>C)
 ClinVar dbSNP gnomAD v4
6g.129427859G=CA1663161821LAMA2c.5968+5G= (n.5968+5G=)
c.6232+5G= (n.6232+5G=)
c.6238+5G= (n.6238+5G=)
c.4363+5G= (n.4363+5G=)
6g.129427862_129427863delCA1663161822LAMA2c.5968+8_5968+9del (n.5968+8_5968+9del)
c.6232+8_6232+9del (n.6232+8_6232+9del)
c.6238+8_6238+9del (n.6238+8_6238+9del)
c.4363+8_4363+9del (n.4363+8_4363+9del)
 dbSNP
6g.129427860T>CCA2578737526LAMA2c.5968+6T>C (n.5968+6T>C)
c.6232+6T>C (n.6232+6T>C)
c.6238+6T>C (n.6238+6T>C)
c.4363+6T>C (n.4363+6T>C)
 gnomAD v4
6g.129427861G>ACA2680309327LAMA2c.5968+7G>A (n.5968+7G>A)
c.6232+7G>A (n.6232+7G>A)
c.6238+7G>A (n.6238+7G>A)
c.4363+7G>A (n.4363+7G>A)
 gnomAD v4
6g.129427862T>GCA2680309328LAMA2c.5968+8T>G (n.5968+8T>G)
c.6232+8T>G (n.6232+8T>G)
c.6238+8T>G (n.6238+8T>G)
c.4363+8T>G (n.4363+8T>G)
 gnomAD v4
6g.129427863G>ACA2680309329LAMA2c.5968+9G>A (n.5968+9G>A)
c.6232+9G>A (n.6232+9G>A)
c.6238+9G>A (n.6238+9G>A)
c.4363+9G>A (n.4363+9G>A)
 gnomAD v4
6g.129427863G=CA1663161827LAMA2c.5968+9G= (n.5968+9G=)
c.6232+9G= (n.6232+9G=)
c.6238+9G= (n.6238+9G=)
c.4363+9G= (n.4363+9G=)
6g.129427863G>TCA146909136LAMA2c.5968+9G>T (n.5968+9G>T)
c.6232+9G>T (n.6232+9G>T)
c.6238+9G>T (n.6238+9G>T)
c.4363+9G>T (n.4363+9G>T)
 dbSNP
6g.129427864G>ACA2573140472LAMA2c.5968+10G>A (n.5968+10G>A)
c.6232+10G>A (n.6232+10G>A)
c.6238+10G>A (n.6238+10G>A)
c.4363+10G>A (n.4363+10G>A)
 ClinVar dbSNP gnomAD v4
6g.129427865C>ACA2680309331LAMA2c.5968+11C>A (n.5968+11C>A)
c.6232+11C>A (n.6232+11C>A)
c.6238+11C>A (n.6238+11C>A)
c.4363+11C>A (n.4363+11C>A)
 gnomAD v4
6g.129427865C=CA1663161830LAMA2c.5968+11C= (n.5968+11C=)
c.6232+11C= (n.6232+11C=)
c.6238+11C= (n.6238+11C=)
c.4363+11C= (n.4363+11C=)
6g.129427865C>TCA3994043LAMA2c.5968+11C>T (n.5968+11C>T)
c.6232+11C>T (n.6232+11C>T)
c.6238+11C>T (n.6238+11C>T)
c.4363+11C>T (n.4363+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427866delCA2680309330LAMA2c.5968+12del (n.5968+12del)
c.6232+12del (n.6232+12del)
c.6238+12del (n.6238+12del)
c.4363+12del (n.4363+12del)
 gnomAD v4
6g.129427866C>ACA2680309332LAMA2c.5968+12C>A (n.5968+12C>A)
c.6232+12C>A (n.6232+12C>A)
c.6238+12C>A (n.6238+12C>A)
c.4363+12C>A (n.4363+12C>A)
 gnomAD v4
6g.129427866C=CA1663161832LAMA2c.5968+12C= (n.5968+12C=)
c.6232+12C= (n.6232+12C=)
c.6238+12C= (n.6238+12C=)
c.4363+12C= (n.4363+12C=)
6g.129427866C>TCA146909142LAMA2c.5968+12C>T (n.5968+12C>T)
c.6232+12C>T (n.6232+12C>T)
c.6238+12C>T (n.6238+12C>T)
c.4363+12C>T (n.4363+12C>T)
 dbSNP
6g.129427867A=CA1663161834LAMA2c.5968+13A= (n.5968+13A=)
c.6232+13A= (n.6232+13A=)
c.6238+13A= (n.6238+13A=)
c.4363+13A= (n.4363+13A=)
6g.129427867A>CCA818850042LAMA2c.5968+13A>C (n.5968+13A>C)
c.6232+13A>C (n.6232+13A>C)
c.6238+13A>C (n.6238+13A>C)
c.4363+13A>C (n.4363+13A>C)
 dbSNP gnomAD v3 gnomAD v4
6g.129427867A>GCA3994044LAMA2c.5968+13A>G (n.5968+13A>G)
c.6232+13A>G (n.6232+13A>G)
c.6238+13A>G (n.6238+13A>G)
c.4363+13A>G (n.4363+13A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427868T>CCA1663161840LAMA2c.5968+14T>C (n.5968+14T>C)
c.6232+14T>C (n.6232+14T>C)
c.6238+14T>C (n.6238+14T>C)
c.4363+14T>C (n.4363+14T>C)
 ClinVar dbSNP gnomAD v4
6g.129427868T=CA1663161837LAMA2c.5968+14T= (n.5968+14T=)
c.6232+14T= (n.6232+14T=)
c.6238+14T= (n.6238+14T=)
c.4363+14T= (n.4363+14T=)
6g.129427869A=CA1663161846LAMA2c.5968+15A= (n.5968+15A=)
c.6232+15A= (n.6232+15A=)
c.6238+15A= (n.6238+15A=)
c.4363+15A= (n.4363+15A=)
6g.129427869A>GCA3994045LAMA2c.5968+15A>G (n.5968+15A>G)
c.6232+15A>G (n.6232+15A>G)
c.6238+15A>G (n.6238+15A>G)
c.4363+15A>G (n.4363+15A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427869A>TCA146909149LAMA2c.5968+15A>T (n.5968+15A>T)
c.6232+15A>T (n.6232+15A>T)
c.6238+15A>T (n.6238+15A>T)
c.4363+15A>T (n.4363+15A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427870G>ACA2578737527LAMA2c.5968+16G>A (n.5968+16G>A)
c.6232+16G>A (n.6232+16G>A)
c.6238+16G>A (n.6238+16G>A)
c.4363+16G>A (n.4363+16G>A)
 ClinVar gnomAD v4
6g.129427870_129427871delinsGTCA1663161849LAMA2c.5968+16_5968+17delinsGT (n.5968+16_5968+17delinsGT)
c.6232+16_6232+17delinsGT (n.6232+16_6232+17delinsGT)
c.6238+16_6238+17delinsGT (n.6238+16_6238+17delinsGT)
c.4363+16_4363+17delinsGT (n.4363+16_4363+17delinsGT)
6g.129427871T>CCA3994046LAMA2c.5968+17T>C (n.5968+17T>C)
c.6232+17T>C (n.6232+17T>C)
c.6238+17T>C (n.6238+17T>C)
c.4363+17T>C (n.4363+17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427871T>GCA2773037378LAMA2c.5968+17T>G (n.5968+17T>G)
c.6232+17T>G (n.6232+17T>G)
c.6238+17T>G (n.6238+17T>G)
c.4363+17T>G (n.4363+17T>G)
6g.129427871T=CA1663161851LAMA2c.5968+17T= (n.5968+17T=)
c.6232+17T= (n.6232+17T=)
c.6238+17T= (n.6238+17T=)
c.4363+17T= (n.4363+17T=)
6g.129427875delCA1663161850LAMA2c.5968+21del (n.5968+21del)
c.6232+21del (n.6232+21del)
c.6238+21del (n.6238+21del)
c.4363+21del (n.4363+21del)
 dbSNP
6g.129427872T>CCA570058719LAMA2c.5968+18T>C (n.5968+18T>C)
c.6232+18T>C (n.6232+18T>C)
c.6238+18T>C (n.6238+18T>C)
c.4363+18T>C (n.4363+18T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.129427872T=CA1663161853LAMA2c.5968+18T= (n.5968+18T=)
c.6232+18T= (n.6232+18T=)
c.6238+18T= (n.6238+18T=)
c.4363+18T= (n.4363+18T=)
6g.129427873T>GCA3994047LAMA2c.5968+19T>G (n.5968+19T>G)
c.6232+19T>G (n.6232+19T>G)
c.6238+19T>G (n.6238+19T>G)
c.4363+19T>G (n.4363+19T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427873T=CA1663161870LAMA2c.5968+19T= (n.5968+19T=)
c.6232+19T= (n.6232+19T=)
c.6238+19T= (n.6238+19T=)
c.4363+19T= (n.4363+19T=)
6g.129427875T>ACA818850052LAMA2c.5968+21T>A (n.5968+21T>A)
c.6232+21T>A (n.6232+21T>A)
c.6238+21T>A (n.6238+21T>A)
c.4363+21T>A (n.4363+21T>A)
 dbSNP gnomAD v3 gnomAD v4
6g.129427875T=CA1663161879LAMA2c.5968+21T= (n.5968+21T=)
c.6232+21T= (n.6232+21T=)
c.6238+21T= (n.6238+21T=)
c.4363+21T= (n.4363+21T=)
6g.129427876A>CCA2773037379LAMA2c.5968+22A>C (n.5968+22A>C)
c.6232+22A>C (n.6232+22A>C)
c.6238+22A>C (n.6238+22A>C)
c.4363+22A>C (n.4363+22A>C)
6g.129427878T>CCA3994048LAMA2c.5968+24T>C (n.5968+24T>C)
c.6232+24T>C (n.6232+24T>C)
c.6238+24T>C (n.6238+24T>C)
c.4363+24T>C (n.4363+24T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427878T=CA1663161886LAMA2c.5968+24T= (n.5968+24T=)
c.6232+24T= (n.6232+24T=)
c.6238+24T= (n.6238+24T=)
c.4363+24T= (n.4363+24T=)
6g.129427879A>GCA2680309333LAMA2c.5968+25A>G (n.5968+25A>G)
c.6232+25A>G (n.6232+25A>G)
c.6238+25A>G (n.6238+25A>G)
c.4363+25A>G (n.4363+25A>G)
 gnomAD v4
6g.129427882T>ACA3994049LAMA2c.5968+28T>A (n.5968+28T>A)
c.6232+28T>A (n.6232+28T>A)
c.6238+28T>A (n.6238+28T>A)
c.4363+28T>A (n.4363+28T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427882T=CA1663161892LAMA2c.5968+28T= (n.5968+28T=)
c.6232+28T= (n.6232+28T=)
c.6238+28T= (n.6238+28T=)
c.4363+28T= (n.4363+28T=)
6g.129427883T>CCA3994050LAMA2c.5968+29T>C (n.5968+29T>C)
c.6232+29T>C (n.6232+29T>C)
c.6238+29T>C (n.6238+29T>C)
c.4363+29T>C (n.4363+29T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427883T=CA1663161896LAMA2c.5968+29T= (n.5968+29T=)
c.6232+29T= (n.6232+29T=)
c.6238+29T= (n.6238+29T=)
c.4363+29T= (n.4363+29T=)
6g.129427884C>ACA2578737528LAMA2c.5968+30C>A (n.5968+30C>A)
c.6232+30C>A (n.6232+30C>A)
c.6238+30C>A (n.6238+30C>A)
c.4363+30C>A (n.4363+30C>A)
 gnomAD v4
6g.129427884C=CA1663161901LAMA2c.5968+30C= (n.5968+30C=)
c.6232+30C= (n.6232+30C=)
c.6238+30C= (n.6238+30C=)
c.4363+30C= (n.4363+30C=)
6g.129427884C>TCA570058724LAMA2c.5968+30C>T (n.5968+30C>T)
c.6232+30C>T (n.6232+30C>T)
c.6238+30C>T (n.6238+30C>T)
c.4363+30C>T (n.4363+30C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427885dupCA146909199LAMA2c.5968+31dup (n.5968+31dup)
c.6232+31dup (n.6232+31dup)
c.6238+31dup (n.6238+31dup)
c.4363+31dup (n.4363+31dup)
 dbSNP
6g.129427885C>ACA2680309334LAMA2c.5968+31C>A (n.5968+31C>A)
c.6232+31C>A (n.6232+31C>A)
c.6238+31C>A (n.6238+31C>A)
c.4363+31C>A (n.4363+31C>A)
 gnomAD v4
6g.129427885C>TCA2680309335LAMA2c.5968+31C>T (n.5968+31C>T)
c.6232+31C>T (n.6232+31C>T)
c.6238+31C>T (n.6238+31C>T)
c.4363+31C>T (n.4363+31C>T)
 gnomAD v4
6g.129427886A=CA1663161903LAMA2c.5968+32A= (n.5968+32A=)
c.6232+32A= (n.6232+32A=)
c.6238+32A= (n.6238+32A=)
c.4363+32A= (n.4363+32A=)
6g.129427886A>GCA146909205LAMA2c.5968+32A>G (n.5968+32A>G)
c.6232+32A>G (n.6232+32A>G)
c.6238+32A>G (n.6238+32A>G)
c.4363+32A>G (n.4363+32A>G)
 dbSNP gnomAD v2 gnomAD v4
6g.129427887G>CCA2578737529LAMA2c.5968+33G>C (n.5968+33G>C)
c.6232+33G>C (n.6232+33G>C)
c.6238+33G>C (n.6238+33G>C)
c.4363+33G>C (n.4363+33G>C)
6g.129427888T>CCA3994051LAMA2c.5968+34T>C (n.5968+34T>C)
c.6232+34T>C (n.6232+34T>C)
c.6238+34T>C (n.6238+34T>C)
c.4363+34T>C (n.4363+34T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427888T=CA1663161907LAMA2c.5968+34T= (n.5968+34T=)
c.6232+34T= (n.6232+34T=)
c.6238+34T= (n.6238+34T=)
c.4363+34T= (n.4363+34T=)
6g.129427889T>ACA2578737530LAMA2c.5968+35T>A (n.5968+35T>A)
c.6232+35T>A (n.6232+35T>A)
c.6238+35T>A (n.6238+35T>A)
c.4363+35T>A (n.4363+35T>A)
6g.129427889T>CCA2680309336LAMA2c.5968+35T>C (n.5968+35T>C)
c.6232+35T>C (n.6232+35T>C)
c.6238+35T>C (n.6238+35T>C)
c.4363+35T>C (n.4363+35T>C)
 gnomAD v4
6g.129427889T=CA1663161910LAMA2c.5968+35T= (n.5968+35T=)
c.6232+35T= (n.6232+35T=)
c.6238+35T= (n.6238+35T=)
c.4363+35T= (n.4363+35T=)
6g.129427890A=CA1663161913LAMA2c.5968+36A= (n.5968+36A=)
c.6232+36A= (n.6232+36A=)
c.6238+36A= (n.6238+36A=)
c.4363+36A= (n.4363+36A=)
6g.129427890A>CCA1663161914LAMA2c.5968+36A>C (n.5968+36A>C)
c.6232+36A>C (n.6232+36A>C)
c.6238+36A>C (n.6238+36A>C)
c.4363+36A>C (n.4363+36A>C)
 dbSNP gnomAD v4
6g.129427891dupCA3994052LAMA2c.5968+37dup (n.5968+37dup)
c.6232+37dup (n.6232+37dup)
c.6238+37dup (n.6238+37dup)
c.4363+37dup (n.4363+37dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427891A>TCA2680309337LAMA2c.5968+37A>T (n.5968+37A>T)
c.6232+37A>T (n.6232+37A>T)
c.6238+37A>T (n.6238+37A>T)
c.4363+37A>T (n.4363+37A>T)
 gnomAD v4
6g.129427892T>ACA1094394986LAMA2c.5968+38T>A (n.5968+38T>A)
c.6232+38T>A (n.6232+38T>A)
c.6238+38T>A (n.6238+38T>A)
c.4363+38T>A (n.4363+38T>A)
 dbSNP gnomAD v3 gnomAD v4
6g.129427892T=CA1663161917LAMA2c.5968+38T= (n.5968+38T=)
c.6232+38T= (n.6232+38T=)
c.6238+38T= (n.6238+38T=)
c.4363+38T= (n.4363+38T=)
6g.129427893C>ACA2578737531LAMA2c.5968+39C>A (n.5968+39C>A)
c.6232+39C>A (n.6232+39C>A)
c.6238+39C>A (n.6238+39C>A)
c.4363+39C>A (n.4363+39C>A)
 gnomAD v4
6g.129427893C=CA1663161920LAMA2c.5968+39C= (n.5968+39C=)
c.6232+39C= (n.6232+39C=)
c.6238+39C= (n.6238+39C=)
c.4363+39C= (n.4363+39C=)
6g.129427893C>TCA146909225LAMA2c.5968+39C>T (n.5968+39C>T)
c.6232+39C>T (n.6232+39C>T)
c.6238+39C>T (n.6238+39C>T)
c.4363+39C>T (n.4363+39C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427894G>ACA3994053LAMA2c.5968+40G>A (n.5968+40G>A)
c.6232+40G>A (n.6232+40G>A)
c.6238+40G>A (n.6238+40G>A)
c.4363+40G>A (n.4363+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427894G=CA1663161926LAMA2c.5968+40G= (n.5968+40G=)
c.6232+40G= (n.6232+40G=)
c.6238+40G= (n.6238+40G=)
c.4363+40G= (n.4363+40G=)
6g.129427894G>TCA570058726LAMA2c.5968+40G>T (n.5968+40G>T)
c.6232+40G>T (n.6232+40G>T)
c.6238+40G>T (n.6238+40G>T)
c.4363+40G>T (n.4363+40G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427895G>ACA146909239LAMA2c.5968+41G>A (n.5968+41G>A)
c.6232+41G>A (n.6232+41G>A)
c.6238+41G>A (n.6238+41G>A)
c.4363+41G>A (n.4363+41G>A)
 dbSNP
6g.129427895G=CA1663161949LAMA2c.5968+41G= (n.5968+41G=)
c.6232+41G= (n.6232+41G=)
c.6238+41G= (n.6238+41G=)
c.4363+41G= (n.4363+41G=)
6g.129427895G>TCA2680309338LAMA2c.5968+41G>T (n.5968+41G>T)
c.6232+41G>T (n.6232+41G>T)
c.6238+41G>T (n.6238+41G>T)
c.4363+41G>T (n.4363+41G>T)
 gnomAD v4
6g.129427896G=CA1663161955LAMA2c.5968+42G= (n.5968+42G=)
c.6232+42G= (n.6232+42G=)
c.6238+42G= (n.6238+42G=)
c.4363+42G= (n.4363+42G=)
6g.129427896G>TCA3994054LAMA2c.5968+42G>T (n.5968+42G>T)
c.6232+42G>T (n.6232+42G>T)
c.6238+42G>T (n.6238+42G>T)
c.4363+42G>T (n.4363+42G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427898T>ACA2578737532LAMA2c.5968+44T>A (n.5968+44T>A)
c.6232+44T>A (n.6232+44T>A)
c.6238+44T>A (n.6238+44T>A)
c.4363+44T>A (n.4363+44T>A)
6g.129427899G>TCA2680309339LAMA2c.5968+45G>T (n.5968+45G>T)
c.6232+45G>T (n.6232+45G>T)
c.6238+45G>T (n.6238+45G>T)
c.4363+45G>T (n.4363+45G>T)
 gnomAD v4
6g.129427900T>CCA570058727LAMA2c.5968+46T>C (n.5968+46T>C)
c.6232+46T>C (n.6232+46T>C)
c.6238+46T>C (n.6238+46T>C)
c.4363+46T>C (n.4363+46T>C)
 dbSNP gnomAD v2
6g.129427900T=CA1663161958LAMA2c.5968+46T= (n.5968+46T=)
c.6232+46T= (n.6232+46T=)
c.6238+46T= (n.6238+46T=)
c.4363+46T= (n.4363+46T=)

Number of alleles fetched