Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129250112_129250124delCA2773033443LAMA2c.1783_1795del
c.1789_1801del
c.-87_-75del
6g.129250116C>ACA365609471LAMA2c.1787C>A (p.Pro596Gln)
c.1793C>A (p.Pro598Gln)
c.-83C>A (n.-83C>A)
6g.129250116C=CA1663060333LAMA2c.1787C= (p.Pro596=)
c.1793C= (p.Pro598=)
c.-83C= (n.-83C=)
6g.129250116C>GCA365609472LAMA2c.1787C>G (p.Pro596Arg)
c.1793C>G (p.Pro598Arg)
c.-83C>G (n.-83C>G)
6g.129250116C>TCA3992749LAMA2c.1787C>T (p.Pro596Leu)
c.1793C>T (p.Pro598Leu)
c.-83C>T (n.-83C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129250117A>CCA451936322LAMA2c.1788A>C (p.Pro596=)
c.1794A>C (p.Pro598=)
c.-82A>C (n.-82A>C)
 gnomAD v4
6g.129250117A>GCA451936325LAMA2c.1788A>G (p.Pro596=)
c.1794A>G (p.Pro598=)
c.-82A>G (n.-82A>G)
 ClinVar dbSNP gnomAD v4
6g.129250117A>TCA451936326LAMA2c.1788A>T (p.Pro596=)
c.1794A>T (p.Pro598=)
c.-82A>T (n.-82A>T)
6g.129250118G>ACA365609473LAMA2c.1789G>A (p.Ala597Thr)
c.1795G>A (p.Ala599Thr)
c.-81G>A (n.-81G>A)
6g.129250118G>CCA365609474LAMA2c.1789G>C (p.Ala597Pro)
c.1795G>C (p.Ala599Pro)
c.-81G>C (n.-81G>C)
6g.129250118G>TCA365609475LAMA2c.1789G>T (p.Ala597Ser)
c.1795G>T (p.Ala599Ser)
c.-81G>T (n.-81G>T)
6g.129250119C>ACA365609478LAMA2c.1790C>A (p.Ala597Glu)
c.1796C>A (p.Ala599Glu)
c.-80C>A (n.-80C>A)
 gnomAD v4
6g.129250119C=CA1663060335LAMA2c.1790C= (p.Ala597=)
c.1796C= (p.Ala599=)
c.-80C= (n.-80C=)
6g.129250119C>GCA365609476LAMA2c.1790C>G (p.Ala597Gly)
c.1796C>G (p.Ala599Gly)
c.-80C>G (n.-80C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.129250119C>TCA365609477LAMA2c.1790C>T (p.Ala597Val)
c.1796C>T (p.Ala599Val)
c.-80C>T (n.-80C>T)
 gnomAD v4
6g.129250119_129250122delCA913109491LAMA2c.1790_1793del (p.Ala597GlufsTer5)
c.1796_1799del (p.Ala599GlufsTer5)
c.-80_-77del (n.-80_-77del)
6g.129250119_129250122delinsCAGTCA1663060334LAMA2c.1790_1793delinsCAGT (p.Ala597=)
c.1796_1799delinsCAGT (p.Ala599=)
c.-80_-77delinsCAGT (n.-80_-77delinsCAGT)
6g.129250120A>CCA451936329LAMA2c.1791A>C (p.Ala597=)
c.1797A>C (p.Ala599=)
c.-79A>C (n.-79A>C)
6g.129250120A>GCA451936330LAMA2c.1791A>G (p.Ala597=)
c.1797A>G (p.Ala599=)
c.-79A>G (n.-79A>G)
6g.129250120A>TCA451936331LAMA2c.1791A>T (p.Ala597=)
c.1797A>T (p.Ala599=)
c.-79A>T (n.-79A>T)
 ClinVar dbSNP
6g.129250122_129250124delCA570053408LAMA2c.1793_1795del (p.Val598del)
c.1799_1801del (p.Val600del)
c.-77_-75del (n.-77_-75del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129250121G>ACA3992750LAMA2c.1792G>A (p.Val598Ile)
c.1798G>A (p.Val600Ile)
c.-78G>A (n.-78G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250121G>CCA365609479LAMA2c.1792G>C (p.Val598Leu)
c.1798G>C (p.Val600Leu)
c.-78G>C (n.-78G>C)
6g.129250121G=CA1663060339LAMA2c.1792G= (p.Val598=)
c.1798G= (p.Val600=)
c.-78G= (n.-78G=)
6g.129250121G>TCA365609480LAMA2c.1792G>T (p.Val598Leu)
c.1798G>T (p.Val600Leu)
c.-78G>T (n.-78G>T)
6g.129250122_129250125delCA913109492LAMA2c.1793_1796del (p.Val598GlufsTer4)
c.1799_1802del (p.Val600GlufsTer4)
c.-77_-74del (n.-77_-74del)
6g.129250122T>ACA365609481LAMA2c.1793T>A (p.Val598Glu)
c.1799T>A (p.Val600Glu)
c.-77T>A (n.-77T>A)
6g.129250122T>CCA365609482LAMA2c.1793T>C (p.Val598Ala)
c.1799T>C (p.Val600Ala)
c.-77T>C (n.-77T>C)
 gnomAD v4
6g.129250122T>GCA365609483LAMA2c.1793T>G (p.Val598Gly)
c.1799T>G (p.Val600Gly)
c.-77T>G (n.-77T>G)
6g.129250122_129250125delinsTAGGCA1663060340LAMA2c.1793_1796delinsTAGG (p.Val598=)
c.1799_1802delinsTAGG (p.Val600=)
c.-77_-74delinsTAGG (n.-77_-74delinsTAGG)
6g.129250123A>CCA451936334LAMA2c.1794A>C (p.Val598=)
c.1800A>C (p.Val600=)
c.-76A>C (n.-76A>C)
6g.129250123A>GCA451936336LAMA2c.1794A>G (p.Val598=)
c.1800A>G (p.Val600=)
c.-76A>G (n.-76A>G)
 ClinVar gnomAD v4
6g.129250123A>TCA451936337LAMA2c.1794A>T (p.Val598=)
c.1800A>T (p.Val600=)
c.-76A>T (n.-76A>T)
6g.129250127_129250129delCA3992751LAMA2c.1798_1800del (p.Gly600del)
c.1804_1806del (p.Gly602del)
c.-72_-70del (n.-72_-70del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250124G>ACA365609484LAMA2c.1795G>A (p.Gly599Arg)
c.1801G>A (p.Gly601Arg)
c.-75G>A (n.-75G>A)
6g.129250124G>CCA365609485LAMA2c.1795G>C (p.Gly599Arg)
c.1801G>C (p.Gly601Arg)
c.-75G>C (n.-75G>C)
6g.129250124G>TCA365609486LAMA2c.1795G>T (p.Gly599Ter)
c.1801G>T (p.Gly601Ter)
c.-75G>T (n.-75G>T)
6g.129250125G>ACA365609489LAMA2c.1796G>A (p.Gly599Glu)
c.1802G>A (p.Gly601Glu)
c.-74G>A (n.-74G>A)
 dbSNP gnomAD v4 COSMIC
6g.129250125G>CCA365609488LAMA2c.1796G>C (p.Gly599Ala)
c.1802G>C (p.Gly601Ala)
c.-74G>C (n.-74G>C)
6g.129250125G=CA1663060343LAMA2c.1796G= (p.Gly599=)
c.1802G= (p.Gly601=)
c.-74G= (n.-74G=)
6g.129250125G>TCA365609487LAMA2c.1796G>T (p.Gly599Val)
c.1802G>T (p.Gly601Val)
c.-74G>T (n.-74G>T)
6g.129250126A>CCA451936338LAMA2c.1797A>C (p.Gly599=)
c.1803A>C (p.Gly601=)
c.-73A>C (n.-73A>C)
6g.129250126A>GCA451936339LAMA2c.1797A>G (p.Gly599=)
c.1803A>G (p.Gly601=)
c.-73A>G (n.-73A>G)
 ClinVar dbSNP
6g.129250126A>TCA451936340LAMA2c.1797A>T (p.Gly599=)
c.1803A>T (p.Gly601=)
c.-73A>T (n.-73A>T)
6g.129250127G>ACA248661LAMA2c.1798G>A (p.Gly600Arg)
c.1804G>A (p.Gly602Arg)
c.-72G>A (n.-72G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250127G>CCA365609490LAMA2c.1798G>C (p.Gly600Arg)
c.1804G>C (p.Gly602Arg)
c.-72G>C (n.-72G>C)
6g.129250127G=CA1663060347LAMA2c.1798G= (p.Gly600=)
c.1804G= (p.Gly602=)
c.-72G= (n.-72G=)
6g.129250127G>TCA365609491LAMA2c.1798G>T (p.Gly600Ter)
c.1804G>T (p.Gly602Ter)
c.-72G>T (n.-72G>T)
 ClinVar dbSNP
6g.129250128G>ACA365609492LAMA2c.1799G>A (p.Gly600Glu)
c.1805G>A (p.Gly602Glu)
c.-71G>A (n.-71G>A)
6g.129250128G>CCA365609493LAMA2c.1799G>C (p.Gly600Ala)
c.1805G>C (p.Gly602Ala)
c.-71G>C (n.-71G>C)
6g.129250128G>TCA365609494LAMA2c.1799G>T (p.Gly600Val)
c.1805G>T (p.Gly602Val)
c.-71G>T (n.-71G>T)
6g.129250129A>CCA451936342LAMA2c.1800A>C (p.Gly600=)
c.1806A>C (p.Gly602=)
c.-70A>C (n.-70A>C)
6g.129250129A>GCA451936343LAMA2c.1800A>G (p.Gly600=)
c.1806A>G (p.Gly602=)
c.-70A>G (n.-70A>G)
6g.129250129A>TCA451936344LAMA2c.1800A>T (p.Gly600=)
c.1806A>T (p.Gly602=)
c.-70A>T (n.-70A>T)
6g.129250130C>ACA365609495LAMA2c.1801C>A (p.Gln601Lys)
c.1807C>A (p.Gln603Lys)
c.-69C>A (n.-69C>A)
 gnomAD v4
6g.129250130C=CA1663060353LAMA2c.1801C= (p.Gln601=)
c.1807C= (p.Gln603=)
c.-69C= (n.-69C=)
6g.129250130C>GCA365609496LAMA2c.1801C>G (p.Gln601Glu)
c.1807C>G (p.Gln603Glu)
c.-69C>G (n.-69C>G)
 gnomAD v4
6g.129250130C>TCA365609497LAMA2c.1801C>T (p.Gln601Ter)
c.1807C>T (p.Gln603Ter)
c.-69C>T (n.-69C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250131A>CCA365609498LAMA2c.1802A>C (p.Gln601Pro)
c.1808A>C (p.Gln603Pro)
c.-68A>C (n.-68A>C)
6g.129250131A>GCA365609499LAMA2c.1802A>G (p.Gln601Arg)
c.1808A>G (p.Gln603Arg)
c.-68A>G (n.-68A>G)
 gnomAD v4
6g.129250131A>TCA365609500LAMA2c.1802A>T (p.Gln601Leu)
c.1808A>T (p.Gln603Leu)
c.-68A>T (n.-68A>T)
6g.129250132G>ACA451936349LAMA2c.1803G>A (p.Gln601=)
c.1809G>A (p.Gln603=)
c.-67G>A (n.-67G>A)
6g.129250132G>CCA365609502LAMA2c.1803G>C (p.Gln601His)
c.1809G>C (p.Gln603His)
c.-67G>C (n.-67G>C)
6g.129250132G>TCA365609501LAMA2c.1803G>T (p.Gln601His)
c.1809G>T (p.Gln603His)
c.-67G>T (n.-67G>T)
6g.129250133T>ACA365609503LAMA2c.1804T>A (p.Leu602Met)
c.1810T>A (p.Leu604Met)
c.-66T>A (n.-66T>A)
6g.129250133T>CCA451936350LAMA2c.1804T>C (p.Leu602=)
c.1810T>C (p.Leu604=)
c.-66T>C (n.-66T>C)
 gnomAD v4
6g.129250133T>GCA365609504LAMA2c.1804T>G (p.Leu602Val)
c.1810T>G (p.Leu604Val)
c.-66T>G (n.-66T>G)
6g.129250134T>ACA365609505LAMA2c.1805T>A (p.Leu602Ter)
c.1811T>A (p.Leu604Ter)
c.-65T>A (n.-65T>A)
6g.129250134T>CCA365609506LAMA2c.1805T>C (p.Leu602Ser)
c.1811T>C (p.Leu604Ser)
c.-65T>C (n.-65T>C)
6g.129250134T>GCA365609507LAMA2c.1805T>G (p.Leu602Trp)
c.1811T>G (p.Leu604Trp)
c.-65T>G (n.-65T>G)
6g.129250135G>ACA451936353LAMA2c.1806G>A (p.Leu602=)
c.1812G>A (p.Leu604=)
c.-64G>A (n.-64G>A)
6g.129250135G>CCA365609508LAMA2c.1806G>C (p.Leu602Phe)
c.1812G>C (p.Leu604Phe)
c.-64G>C (n.-64G>C)
 gnomAD v4
6g.129250135G>TCA365609509LAMA2c.1806G>T (p.Leu602Phe)
c.1812G>T (p.Leu604Phe)
c.-64G>T (n.-64G>T)
6g.129250136A>CCA365609510LAMA2c.1807A>C (p.Thr603Pro)
c.1813A>C (p.Thr605Pro)
c.-63A>C (n.-63A>C)
6g.129250136A>GCA365609511LAMA2c.1807A>G (p.Thr603Ala)
c.1813A>G (p.Thr605Ala)
c.-63A>G (n.-63A>G)
6g.129250136A>TCA365609512LAMA2c.1807A>T (p.Thr603Ser)
c.1813A>T (p.Thr605Ser)
c.-63A>T (n.-63A>T)
6g.129250137C>ACA365609513LAMA2c.1808C>A (p.Thr603Lys)
c.1814C>A (p.Thr605Lys)
c.-62C>A (n.-62C>A)
6g.129250137C>GCA365609514LAMA2c.1808C>G (p.Thr603Arg)
c.1814C>G (p.Thr605Arg)
c.-62C>G (n.-62C>G)
6g.129250137C>TCA365609515LAMA2c.1808C>T (p.Thr603Ile)
c.1814C>T (p.Thr605Ile)
c.-62C>T (n.-62C>T)
6g.129250138A=CA1663060357LAMA2c.1809A= (p.Thr603=)
c.1815A= (p.Thr605=)
c.-61A= (n.-61A=)
6g.129250138A>CCA451936354LAMA2c.1809A>C (p.Thr603=)
c.1815A>C (p.Thr605=)
c.-61A>C (n.-61A>C)
 ClinVar dbSNP
6g.129250138A>GCA146918238LAMA2c.1809A>G (p.Thr603=)
c.1815A>G (p.Thr605=)
c.-61A>G (n.-61A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129250138A>TCA451936355LAMA2c.1809A>T (p.Thr603=)
c.1815A>T (p.Thr605=)
c.-61A>T (n.-61A>T)
6g.129250139T>ACA365609517LAMA2c.1810T>A (p.Phe604Ile)
c.1816T>A (p.Phe606Ile)
c.-60T>A (n.-60T>A)
6g.129250139T>CCA365609518LAMA2c.1810T>C (p.Phe604Leu)
c.1816T>C (p.Phe606Leu)
c.-60T>C (n.-60T>C)
6g.129250139T>GCA365609516LAMA2c.1810T>G (p.Phe604Val)
c.1816T>G (p.Phe606Val)
c.-60T>G (n.-60T>G)
6g.129250140T>ACA365609521LAMA2c.1811T>A (p.Phe604Tyr)
c.1817T>A (p.Phe606Tyr)
c.-59T>A (n.-59T>A)
6g.129250140T>CCA365609519LAMA2c.1811T>C (p.Phe604Ser)
c.1817T>C (p.Phe606Ser)
c.-59T>C (n.-59T>C)
6g.129250140T>GCA365609520LAMA2c.1811T>G (p.Phe604Cys)
c.1817T>G (p.Phe606Cys)
c.-59T>G (n.-59T>G)
 dbSNP gnomAD v2 gnomAD v4
6g.129250140T=CA1663060363LAMA2c.1811T= (p.Phe604=)
c.1817T= (p.Phe606=)
c.-59T= (n.-59T=)
6g.129250141T>ACA365609522LAMA2c.1812T>A (p.Phe604Leu)
c.1818T>A (p.Phe606Leu)
c.-58T>A (n.-58T>A)
6g.129250141T>CCA451936359LAMA2c.1812T>C (p.Phe604=)
c.1818T>C (p.Phe606=)
c.-58T>C (n.-58T>C)
6g.129250141T>GCA365609523LAMA2c.1812T>G (p.Phe604Leu)
c.1818T>G (p.Phe606Leu)
c.-58T>G (n.-58T>G)
6g.129250142A>CCA365609524LAMA2c.1813A>C (p.Thr605Pro)
c.1819A>C (p.Thr607Pro)
c.-57A>C (n.-57A>C)
 COSMIC
6g.129250142A>GCA365609525LAMA2c.1813A>G (p.Thr605Ala)
c.1819A>G (p.Thr607Ala)
c.-57A>G (n.-57A>G)
6g.129250142A>TCA365609526LAMA2c.1813A>T (p.Thr605Ser)
c.1819A>T (p.Thr607Ser)
c.-57A>T (n.-57A>T)
6g.129250143C>ACA365609527LAMA2c.1814C>A (p.Thr605Asn)
c.1820C>A (p.Thr607Asn)
c.-56C>A (n.-56C>A)
6g.129250143C=CA1663060371LAMA2c.1814C= (p.Thr605=)
c.1820C= (p.Thr607=)
c.-56C= (n.-56C=)
6g.129250143C>GCA365609528LAMA2c.1814C>G (p.Thr605Ser)
c.1820C>G (p.Thr607Ser)
c.-56C>G (n.-56C>G)
6g.129250143C>TCA3992752LAMA2c.1814C>T (p.Thr605Ile)
c.1820C>T (p.Thr607Ile)
c.-56C>T (n.-56C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250143_129250144delinsAACA645548981LAMA2c.1814_1815delinsAA (p.Thr605Lys)
c.1820_1821delinsAA (p.Thr607Lys)
c.-56_-55delinsAA (n.-56_-55delinsAA)
 COSMIC
6g.129250144C>ACA451936364LAMA2c.1815C>A (p.Thr605=)
c.1821C>A (p.Thr607=)
c.-55C>A (n.-55C>A)
6g.129250144C>GCA451936365LAMA2c.1815C>G (p.Thr605=)
c.1821C>G (p.Thr607=)
c.-55C>G (n.-55C>G)
 ClinVar
6g.129250144C>TCA451936366LAMA2c.1815C>T (p.Thr605=)
c.1821C>T (p.Thr607=)
c.-55C>T (n.-55C>T)
 ClinVar dbSNP gnomAD v4
6g.129250145A=CA1663060378LAMA2c.1816A= (p.Ile606=)
c.1822A= (p.Ile608=)
c.-54A= (n.-54A=)
6g.129250145A>CCA365609529LAMA2c.1816A>C (p.Ile606Leu)
c.1822A>C (p.Ile608Leu)
c.-54A>C (n.-54A>C)
6g.129250145A>GCA240011LAMA2c.1816A>G (p.Ile606Val)
c.1822A>G (p.Ile608Val)
c.-54A>G (n.-54A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250145A>TCA365609530LAMA2c.1816A>T (p.Ile606Leu)
c.1822A>T (p.Ile608Leu)
c.-54A>T (n.-54A>T)
6g.129250146T>ACA365609531LAMA2c.1817T>A (p.Ile606Lys)
c.1823T>A (p.Ile608Lys)
c.-53T>A (n.-53T>A)
6g.129250146T>CCA3992753LAMA2c.1817T>C (p.Ile606Thr)
c.1823T>C (p.Ile608Thr)
c.-53T>C (n.-53T>C)
 dbSNP ExAC gnomAD v2
6g.129250146T>GCA365609532LAMA2c.1817T>G (p.Ile606Arg)
c.1823T>G (p.Ile608Arg)
c.-53T>G (n.-53T>G)
6g.129250146T=CA1663060385LAMA2c.1817T= (p.Ile606=)
c.1823T= (p.Ile608=)
c.-53T= (n.-53T=)
6g.129250147A>CCA451936372LAMA2c.1818A>C (p.Ile606=)
c.1824A>C (p.Ile608=)
c.-52A>C (n.-52A>C)
6g.129250147A>GCA365609533LAMA2c.1818A>G (p.Ile606Met)
c.1824A>G (p.Ile608Met)
c.-52A>G (n.-52A>G)
6g.129250147A>TCA451936374LAMA2c.1818A>T (p.Ile606=)
c.1824A>T (p.Ile608=)
c.-52A>T (n.-52A>T)
6g.129250148T>ACA365609534LAMA2c.1819T>A (p.Ser607Thr)
c.1825T>A (p.Ser609Thr)
c.-51T>A (n.-51T>A)
6g.129250148T>CCA365609535LAMA2c.1819T>C (p.Ser607Pro)
c.1825T>C (p.Ser609Pro)
c.-51T>C (n.-51T>C)
6g.129250148T>GCA365609536LAMA2c.1819T>G (p.Ser607Ala)
c.1825T>G (p.Ser609Ala)
c.-51T>G (n.-51T>G)
6g.129250149C>ACA365609537LAMA2c.1820C>A (p.Ser607Ter)
c.1826C>A (p.Ser609Ter)
c.-50C>A (n.-50C>A)
 gnomAD v4
6g.129250149C=CA1663060389LAMA2c.1820C= (p.Ser607=)
c.1826C= (p.Ser609=)
c.-50C= (n.-50C=)
6g.129250149C>GCA365609538LAMA2c.1820C>G (p.Ser607Ter)
c.1826C>G (p.Ser609Ter)
c.-50C>G (n.-50C>G)
6g.129250149C>TCA3992755LAMA2c.1820C>T (p.Ser607Leu)
c.1826C>T (p.Ser609Leu)
c.-50C>T (n.-50C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.129250149_129250151delinsCATCA1663060391LAMA2c.1820_1822delinsCAT (p.Ser607=)
c.1826_1828delinsCAT (p.Ser609=)
c.-50_-48delinsCAT (n.-50_-48delinsCAT)
6g.129250150A>CCA451936377LAMA2c.1821A>C (p.Ser607=)
c.1827A>C (p.Ser609=)
c.-49A>C (n.-49A>C)
6g.129250150A>GCA451936379LAMA2c.1821A>G (p.Ser607=)
c.1827A>G (p.Ser609=)
c.-49A>G (n.-49A>G)
6g.129250150A>TCA451936381LAMA2c.1821A>T (p.Ser607=)
c.1827A>T (p.Ser609=)
c.-49A>T (n.-49A>T)
6g.129250152_129250153delCA3992754LAMA2c.1823_1824del (p.Tyr608Ter)
c.1829_1830del (p.Tyr610Ter)
c.-47_-46del (n.-47_-46del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250151T>ACA365609539LAMA2c.1822T>A (p.Tyr608Asn)
c.1828T>A (p.Tyr610Asn)
c.-48T>A (n.-48T>A)
6g.129250151T>CCA365609540LAMA2c.1822T>C (p.Tyr608His)
c.1828T>C (p.Tyr610His)
c.-48T>C (n.-48T>C)
 dbSNP gnomAD v2
6g.129250151T>GCA365609541LAMA2c.1822T>G (p.Tyr608Asp)
c.1828T>G (p.Tyr610Asp)
c.-48T>G (n.-48T>G)
6g.129250151T=CA1663060394LAMA2c.1822T= (p.Tyr608=)
c.1828T= (p.Tyr610=)
c.-48T= (n.-48T=)
6g.129250152A=CA1663060399LAMA2c.1823A= (p.Tyr608=)
c.1829A= (p.Tyr610=)
c.-47A= (n.-47A=)
6g.129250152A>CCA365609544LAMA2c.1823A>C (p.Tyr608Ser)
c.1829A>C (p.Tyr610Ser)
c.-47A>C (n.-47A>C)
6g.129250152A>GCA365609543LAMA2c.1823A>G (p.Tyr608Cys)
c.1829A>G (p.Tyr610Cys)
c.-47A>G (n.-47A>G)
 ClinVar dbSNP
6g.129250152A>TCA365609542LAMA2c.1823A>T (p.Tyr608Phe)
c.1829A>T (p.Tyr610Phe)
c.-47A>T (n.-47A>T)
6g.129250153T>ACA365609546LAMA2c.1824T>A (p.Tyr608Ter)
c.1830T>A (p.Tyr610Ter)
c.-46T>A (n.-46T>A)
6g.129250153T>CCA451936383LAMA2c.1824T>C (p.Tyr608=)
c.1830T>C (p.Tyr610=)
c.-46T>C (n.-46T>C)
 gnomAD v4
6g.129250153T>GCA365609545LAMA2c.1824T>G (p.Tyr608Ter)
c.1830T>G (p.Tyr610Ter)
c.-46T>G (n.-46T>G)
 ClinVar dbSNP
6g.129250154G>ACA365609547LAMA2c.1825G>A (p.Asp609Asn)
c.1831G>A (p.Asp611Asn)
c.-45G>A (n.-45G>A)
6g.129250154G>CCA365609548LAMA2c.1825G>C (p.Asp609His)
c.1831G>C (p.Asp611His)
c.-45G>C (n.-45G>C)
6g.129250154G>TCA365609549LAMA2c.1825G>T (p.Asp609Tyr)
c.1831G>T (p.Asp611Tyr)
c.-45G>T (n.-45G>T)
6g.129250155A>CCA365609550LAMA2c.1826A>C (p.Asp609Ala)
c.1832A>C (p.Asp611Ala)
c.-44A>C (n.-44A>C)
6g.129250155A>GCA365609551LAMA2c.1826A>G (p.Asp609Gly)
c.1832A>G (p.Asp611Gly)
c.-44A>G (n.-44A>G)
6g.129250155A>TCA365609552LAMA2c.1826A>T (p.Asp609Val)
c.1832A>T (p.Asp611Val)
c.-44A>T (n.-44A>T)
6g.129250156C>ACA365609553LAMA2c.1827C>A (p.Asp609Glu)
c.1833C>A (p.Asp611Glu)
c.-43C>A (n.-43C>A)
 gnomAD v4
6g.129250156C=CA1663060405LAMA2c.1827C= (p.Asp609=)
c.1833C= (p.Asp611=)
c.-43C= (n.-43C=)
6g.129250156C>GCA365609554LAMA2c.1827C>G (p.Asp609Glu)
c.1833C>G (p.Asp611Glu)
c.-43C>G (n.-43C>G)
6g.129250156C>TCA451936391LAMA2c.1827C>T (p.Asp609=)
c.1833C>T (p.Asp611=)
c.-43C>T (n.-43C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250157C>ACA365609555LAMA2c.1828C>A (p.Leu610Ile)
c.1834C>A (p.Leu612Ile)
c.-42C>A (n.-42C>A)
6g.129250157C>GCA365609556LAMA2c.1828C>G (p.Leu610Val)
c.1834C>G (p.Leu612Val)
c.-42C>G (n.-42C>G)
6g.129250157C>TCA365609557LAMA2c.1828C>T (p.Leu610Phe)
c.1834C>T (p.Leu612Phe)
c.-42C>T (n.-42C>T)
 COSMIC
6g.129250158T>ACA365609559LAMA2c.1829T>A (p.Leu610His)
c.1835T>A (p.Leu612His)
c.-41T>A (n.-41T>A)
 gnomAD v4
6g.129250158T>CCA365609560LAMA2c.1829T>C (p.Leu610Pro)
c.1835T>C (p.Leu612Pro)
c.-41T>C (n.-41T>C)
6g.129250158T>GCA365609558LAMA2c.1829T>G (p.Leu610Arg)
c.1835T>G (p.Leu612Arg)
c.-41T>G (n.-41T>G)
6g.129250159T>ACA451936394LAMA2c.1830T>A (p.Leu610=)
c.1836T>A (p.Leu612=)
c.-40T>A (n.-40T>A)
6g.129250159T>CCA451936396LAMA2c.1830T>C (p.Leu610=)
c.1836T>C (p.Leu612=)
c.-40T>C (n.-40T>C)
 gnomAD v4
6g.129250159T>GCA451936395LAMA2c.1830T>G (p.Leu610=)
c.1836T>G (p.Leu612=)
c.-40T>G (n.-40T>G)
6g.129250160G>ACA365609561LAMA2c.1831G>A (p.Glu611Lys)
c.1837G>A (p.Glu613Lys)
c.-39G>A (n.-39G>A)
6g.129250160G>CCA365609562LAMA2c.1831G>C (p.Glu611Gln)
c.1837G>C (p.Glu613Gln)
c.-39G>C (n.-39G>C)
6g.129250160G=CA1663060411LAMA2c.1831G= (p.Glu611=)
c.1837G= (p.Glu613=)
c.-39G= (n.-39G=)
6g.129250160G>TCA365609563LAMA2c.1831G>T (p.Glu611Ter)
c.1837G>T (p.Glu613Ter)
c.-39G>T (n.-39G>T)
 ClinVar dbSNP
6g.129250165_129250167delCA2680304575LAMA2c.1836_1838del (p.Glu613del)
c.1842_1844del (p.Glu615del)
c.-34_-32del (n.-34_-32del)
 gnomAD v4
6g.129250161A>CCA365609564LAMA2c.1832A>C (p.Glu611Ala)
c.1838A>C (p.Glu613Ala)
c.-38A>C (n.-38A>C)
6g.129250161A>GCA365609565LAMA2c.1832A>G (p.Glu611Gly)
c.1838A>G (p.Glu613Gly)
c.-38A>G (n.-38A>G)
6g.129250161A>TCA365609566LAMA2c.1832A>T (p.Glu611Val)
c.1838A>T (p.Glu613Val)
c.-38A>T (n.-38A>T)
6g.129250162A=CA1663060420LAMA2c.1833A= (p.Glu611=)
c.1839A= (p.Glu613=)
c.-37A= (n.-37A=)
6g.129250162A>CCA365609567LAMA2c.1833A>C (p.Glu611Asp)
c.1839A>C (p.Glu613Asp)
c.-37A>C (n.-37A>C)
6g.129250162A>GCA451936402LAMA2c.1833A>G (p.Glu611=)
c.1839A>G (p.Glu613=)
c.-37A>G (n.-37A>G)
 dbSNP gnomAD v4
6g.129250162A>TCA365609568LAMA2c.1833A>T (p.Glu611Asp)
c.1839A>T (p.Glu613Asp)
c.-37A>T (n.-37A>T)
6g.129250163G>ACA365609569LAMA2c.1834G>A (p.Glu612Lys)
c.1840G>A (p.Glu614Lys)
c.-36G>A (n.-36G>A)
6g.129250163G>CCA365609570LAMA2c.1834G>C (p.Glu612Gln)
c.1840G>C (p.Glu614Gln)
c.-36G>C (n.-36G>C)
6g.129250163G=CA1663060423LAMA2c.1834G= (p.Glu612=)
c.1840G= (p.Glu614=)
c.-36G= (n.-36G=)
6g.129250163G>TCA365609571LAMA2c.1834G>T (p.Glu612Ter)
c.1840G>T (p.Glu614Ter)
c.-36G>T (n.-36G>T)
 ClinVar dbSNP
6g.129250164A>CCA365609572LAMA2c.1835A>C (p.Glu612Ala)
c.1841A>C (p.Glu614Ala)
c.-35A>C (n.-35A>C)
6g.129250164A>GCA365609573LAMA2c.1835A>G (p.Glu612Gly)
c.1841A>G (p.Glu614Gly)
c.-35A>G (n.-35A>G)
6g.129250164A>TCA365609574LAMA2c.1835A>T (p.Glu612Val)
c.1841A>T (p.Glu614Val)
c.-35A>T (n.-35A>T)
6g.129250165A=CA1663060427LAMA2c.1836A= (p.Glu612=)
c.1842A= (p.Glu614=)
c.-34A= (n.-34A=)
6g.129250165A>CCA365609576LAMA2c.1836A>C (p.Glu612Asp)
c.1842A>C (p.Glu614Asp)
c.-34A>C (n.-34A>C)
6g.129250165A>GCA3992756LAMA2c.1836A>G (p.Glu612=)
c.1842A>G (p.Glu614=)
c.-34A>G (n.-34A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250165A>TCA365609575LAMA2c.1836A>T (p.Glu612Asp)
c.1842A>T (p.Glu614Asp)
c.-34A>T (n.-34A>T)
6g.129250166G>ACA365609577LAMA2c.1837G>A (p.Glu613Lys)
c.1843G>A (p.Glu615Lys)
c.-33G>A (n.-33G>A)
6g.129250166G>CCA365609579LAMA2c.1837G>C (p.Glu613Gln)
c.1843G>C (p.Glu615Gln)
c.-33G>C (n.-33G>C)
6g.129250166G>TCA365609578LAMA2c.1837G>T (p.Glu613Ter)
c.1843G>T (p.Glu615Ter)
c.-33G>T (n.-33G>T)
6g.129250167A=CA1663060430LAMA2c.1838A= (p.Glu613=)
c.1844A= (p.Glu615=)
c.-32A= (n.-32A=)
6g.129250167A>CCA365609580LAMA2c.1838A>C (p.Glu613Ala)
c.1844A>C (p.Glu615Ala)
c.-32A>C (n.-32A>C)
6g.129250167A>GCA365609581LAMA2c.1838A>G (p.Glu613Gly)
c.1844A>G (p.Glu615Gly)
c.-32A>G (n.-32A>G)
6g.129250167A>TCA146918266LAMA2c.1838A>T (p.Glu613Val)
c.1844A>T (p.Glu615Val)
c.-32A>T (n.-32A>T)
 dbSNP
6g.129250168G>ACA451936405LAMA2c.1839G>A (p.Glu613=)
c.1845G>A (p.Glu615=)
c.-31G>A (n.-31G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.129250168G>CCA365609582LAMA2c.1839G>C (p.Glu613Asp)
c.1845G>C (p.Glu615Asp)
c.-31G>C (n.-31G>C)
 gnomAD v4
6g.129250168G=CA1663060435LAMA2c.1839G= (p.Glu613=)
c.1845G= (p.Glu615=)
c.-31G= (n.-31G=)
6g.129250168G>TCA365609583LAMA2c.1839G>T (p.Glu613Asp)
c.1845G>T (p.Glu615Asp)
c.-31G>T (n.-31G>T)
6g.129250169G>ACA365609584LAMA2c.1840G>A (p.Glu614Lys)
c.1846G>A (p.Glu616Lys)
c.-30G>A (n.-30G>A)
 ClinVar dbSNP
6g.129250169G>CCA365609585LAMA2c.1840G>C (p.Glu614Gln)
c.1846G>C (p.Glu616Gln)
c.-30G>C (n.-30G>C)
6g.129250169G=CA1663060437LAMA2c.1840G= (p.Glu614=)
c.1846G= (p.Glu616=)
c.-30G= (n.-30G=)
6g.129250169G>TCA365609586LAMA2c.1840G>T (p.Glu614Ter)
c.1846G>T (p.Glu616Ter)
c.-30G>T (n.-30G>T)
6g.129250170A>CCA365609587LAMA2c.1841A>C (p.Glu614Ala)
c.1847A>C (p.Glu616Ala)
c.-29A>C (n.-29A>C)
6g.129250170A>GCA365609588LAMA2c.1841A>G (p.Glu614Gly)
c.1847A>G (p.Glu616Gly)
c.-29A>G (n.-29A>G)
6g.129250170A>TCA365609589LAMA2c.1841A>T (p.Glu614Val)
c.1847A>T (p.Glu616Val)
c.-29A>T (n.-29A>T)
6g.129250171A=CA1663060446LAMA2c.1842A= (p.Glu614=)
c.1848A= (p.Glu616=)
c.-28A= (n.-28A=)
6g.129250171A>CCA365609590LAMA2c.1842A>C (p.Glu614Asp)
c.1848A>C (p.Glu616Asp)
c.-28A>C (n.-28A>C)
6g.129250171A>GCA451936411LAMA2c.1842A>G (p.Glu614=)
c.1848A>G (p.Glu616=)
c.-28A>G (n.-28A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129250171A>TCA365609591LAMA2c.1842A>T (p.Glu614Asp)
c.1848A>T (p.Glu616Asp)
c.-28A>T (n.-28A>T)
6g.129250172G>ACA365609592LAMA2c.1843G>A (p.Glu615Lys)
c.1849G>A (p.Glu617Lys)
c.-27G>A (n.-27G>A)
 gnomAD v4
6g.129250172G>CCA365609594LAMA2c.1843G>C (p.Glu615Gln)
c.1849G>C (p.Glu617Gln)
c.-27G>C (n.-27G>C)
6g.129250172G>TCA365609593LAMA2c.1843G>T (p.Glu615Ter)
c.1849G>T (p.Glu617Ter)
c.-27G>T (n.-27G>T)
 ClinVar dbSNP
6g.129250173A>CCA365609595LAMA2c.1844A>C (p.Glu615Ala)
c.1850A>C (p.Glu617Ala)
c.-26A>C (n.-26A>C)
6g.129250173A>GCA365609596LAMA2c.1844A>G (p.Glu615Gly)
c.1850A>G (p.Glu617Gly)
c.-26A>G (n.-26A>G)
6g.129250173A>TCA365609597LAMA2c.1844A>T (p.Glu615Val)
c.1850A>T (p.Glu617Val)
c.-26A>T (n.-26A>T)
6g.129250174A>CCA365609598LAMA2c.1845A>C (p.Glu615Asp)
c.1851A>C (p.Glu617Asp)
c.-25A>C (n.-25A>C)
6g.129250174A>GCA451936412LAMA2c.1845A>G (p.Glu615=)
c.1851A>G (p.Glu617=)
c.-25A>G (n.-25A>G)
6g.129250174A>TCA365609599LAMA2c.1845A>T (p.Glu615Asp)
c.1851A>T (p.Glu617Asp)
c.-25A>T (n.-25A>T)
6g.129250175G>ACA365609600LAMA2c.1846G>A (p.Asp616Asn)
c.1852G>A (p.Asp618Asn)
c.-24G>A (n.-24G>A)
6g.129250175G>CCA365609601LAMA2c.1846G>C (p.Asp616His)
c.1852G>C (p.Asp618His)
c.-24G>C (n.-24G>C)
6g.129250175G>TCA365609602LAMA2c.1846G>T (p.Asp616Tyr)
c.1852G>T (p.Asp618Tyr)
c.-24G>T (n.-24G>T)
6g.129250176A>CCA365609603LAMA2c.1847A>C (p.Asp616Ala)
c.1853A>C (p.Asp618Ala)
c.-23A>C (n.-23A>C)
6g.129250176A>GCA365609604LAMA2c.1847A>G (p.Asp616Gly)
c.1853A>G (p.Asp618Gly)
c.-23A>G (n.-23A>G)
6g.129250176A>TCA365609605LAMA2c.1847A>T (p.Asp616Val)
c.1853A>T (p.Asp618Val)
c.-23A>T (n.-23A>T)
6g.129250177T>ACA365609606LAMA2c.1848T>A (p.Asp616Glu)
c.1854T>A (p.Asp618Glu)
c.-22T>A (n.-22T>A)
6g.129250177T>CCA451936416LAMA2c.1848T>C (p.Asp616=)
c.1854T>C (p.Asp618=)
c.-22T>C (n.-22T>C)
 gnomAD v4
6g.129250177T>GCA365609607LAMA2c.1848T>G (p.Asp616Glu)
c.1854T>G (p.Asp618Glu)
c.-22T>G (n.-22T>G)
6g.129250178A=CA1663060449LAMA2c.1849A= (p.Thr617=)
c.1855A= (p.Thr619=)
c.-21A= (n.-21A=)
6g.129250178A>CCA365609608LAMA2c.1849A>C (p.Thr617Pro)
c.1855A>C (p.Thr619Pro)
c.-21A>C (n.-21A>C)
 dbSNP gnomAD v3 gnomAD v4
6g.129250178A>GCA365609609LAMA2c.1849A>G (p.Thr617Ala)
c.1855A>G (p.Thr619Ala)
c.-21A>G (n.-21A>G)
 dbSNP gnomAD v3 gnomAD v4
6g.129250178A>TCA365609610LAMA2c.1849A>T (p.Thr617Ser)
c.1855A>T (p.Thr619Ser)
c.-21A>T (n.-21A>T)
6g.129250179C>ACA365609611LAMA2c.1850C>A (p.Thr617Lys)
c.1856C>A (p.Thr619Lys)
c.-20C>A (n.-20C>A)
 gnomAD v4
6g.129250179C=CA1663060454LAMA2c.1850C= (p.Thr617=)
c.1856C= (p.Thr619=)
c.-20C= (n.-20C=)
6g.129250179C>GCA365609612LAMA2c.1850C>G (p.Thr617Arg)
c.1856C>G (p.Thr619Arg)
c.-20C>G (n.-20C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250179C>TCA3992757LAMA2c.1850C>T (p.Thr617Ile)
c.1856C>T (p.Thr619Ile)
c.-20C>T (n.-20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250180A=CA1663060458LAMA2c.1851A= (p.Thr617=)
c.1857A= (p.Thr619=)
c.-19A= (n.-19A=)
6g.129250180A>CCA451936417LAMA2c.1851A>C (p.Thr617=)
c.1857A>C (p.Thr619=)
c.-19A>C (n.-19A>C)
6g.129250180A>GCA451936418LAMA2c.1851A>G (p.Thr617=)
c.1857A>G (p.Thr619=)
c.-19A>G (n.-19A>G)
 ClinVar dbSNP gnomAD v4
6g.129250180A>TCA451936419LAMA2c.1851A>T (p.Thr617=)
c.1857A>T (p.Thr619=)
c.-19A>T (n.-19A>T)
6g.129250181G>ACA365609613LAMA2c.1852G>A (p.Glu618Lys)
c.1858G>A (p.Glu620Lys)
c.-18G>A (n.-18G>A)
6g.129250181G>CCA365609614LAMA2c.1852G>C (p.Glu618Gln)
c.1858G>C (p.Glu620Gln)
c.-18G>C (n.-18G>C)
6g.129250181G=CA1663060459LAMA2c.1852G= (p.Glu618=)
c.1858G= (p.Glu620=)
c.-18G= (n.-18G=)
6g.129250181G>TCA365609615LAMA2c.1852G>T (p.Glu618Ter)
c.1858G>T (p.Glu620Ter)
c.-18G>T (n.-18G>T)
 ClinVar dbSNP
6g.129250182A=CA1663060461LAMA2c.1853A= (p.Glu618=)
c.1859A= (p.Glu620=)
c.-17A= (n.-17A=)
6g.129250182A>CCA365609616LAMA2c.1853A>C (p.Glu618Ala)
c.1859A>C (p.Glu620Ala)
c.-17A>C (n.-17A>C)
6g.129250182A>GCA365609617LAMA2c.1853A>G (p.Glu618Gly)
c.1859A>G (p.Glu620Gly)
c.-17A>G (n.-17A>G)
6g.129250182A>TCA365609618LAMA2c.1853A>T (p.Glu618Val)
c.1859A>T (p.Glu620Val)
c.-17A>T (n.-17A>T)
6g.129250183A>CCA365609620LAMA2c.1854A>C (p.Glu618Asp)
c.1860A>C (p.Glu620Asp)
c.-16A>C (n.-16A>C)
6g.129250183A>GCA451936420LAMA2c.1854A>G (p.Glu618=)
c.1860A>G (p.Glu620=)
c.-16A>G (n.-16A>G)
 gnomAD v4
6g.129250183A>TCA365609619LAMA2c.1854A>T (p.Glu618Asp)
c.1860A>T (p.Glu620Asp)
c.-16A>T (n.-16A>T)
6g.129250184_129250185insATGTTCACCA274989LAMA2c.1855_1856insATGTTCAC (p.Arg619HisfsTer9)
c.1861_1862insATGTTCAC (p.Arg621HisfsTer9)
c.-15_-14insATGTTCAC (n.-15_-14insATGTTCAC)
 ClinVar dbSNP
6g.129250183_129250190dupCA342966LAMA2c.1854_1861dup (p.Leu621HisfsTer7)
c.1860_1867dup (p.Leu623HisfsTer7)
c.-16_-9dup (n.-16_-9dup)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250184C>ACA365609621LAMA2c.1855C>A (p.Arg619Ser)
c.1861C>A (p.Arg621Ser)
c.-15C>A (n.-15C>A)
 ClinVar dbSNP gnomAD v4
6g.129250184C=CA1663060472LAMA2c.1855C= (p.Arg619=)
c.1861C= (p.Arg621=)
c.-15C= (n.-15C=)
6g.129250184C>GCA365609622LAMA2c.1855C>G (p.Arg619Gly)
c.1861C>G (p.Arg621Gly)
c.-15C>G (n.-15C>G)
6g.129250184C>TCA3992758LAMA2c.1855C>T (p.Arg619Cys)
c.1861C>T (p.Arg621Cys)
c.-15C>T (n.-15C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250185G>ACA146105LAMA2c.1856G>A (p.Arg619His)
c.1862G>A (p.Arg621His)
c.-14G>A (n.-14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250185G>CCA365609623LAMA2c.1856G>C (p.Arg619Pro)
c.1862G>C (p.Arg621Pro)
c.-14G>C (n.-14G>C)
6g.129250185G=CA1663060475LAMA2c.1856G= (p.Arg619=)
c.1862G= (p.Arg621=)
c.-14G= (n.-14G=)
6g.129250185G>TCA365609624LAMA2c.1856G>T (p.Arg619Leu)
c.1862G>T (p.Arg621Leu)
c.-14G>T (n.-14G>T)
6g.129250186T>ACA451936426LAMA2c.1857T>A (p.Arg619=)
c.1863T>A (p.Arg621=)
c.-13T>A (n.-13T>A)
6g.129250186T>CCA451936424LAMA2c.1857T>C (p.Arg619=)
c.1863T>C (p.Arg621=)
c.-13T>C (n.-13T>C)
 dbSNP gnomAD v4
6g.129250186T>GCA451936425LAMA2c.1857T>G (p.Arg619=)
c.1863T>G (p.Arg621=)
c.-13T>G (n.-13T>G)
6g.129250186T=CA1663060480LAMA2c.1857T= (p.Arg619=)
c.1863T= (p.Arg621=)
c.-13T= (n.-13T=)
6g.129250187G>ACA365609625LAMA2c.1858G>A (p.Val620Ile)
c.1864G>A (p.Val622Ile)
c.-12G>A (n.-12G>A)
 ClinVar dbSNP gnomAD v4
6g.129250187G>CCA365609626LAMA2c.1858G>C (p.Val620Leu)
c.1864G>C (p.Val622Leu)
c.-12G>C (n.-12G>C)
6g.129250187G>TCA365609627LAMA2c.1858G>T (p.Val620Phe)
c.1864G>T (p.Val622Phe)
c.-12G>T (n.-12G>T)
6g.129250188T>ACA365609628LAMA2c.1859T>A (p.Val620Asp)
c.1865T>A (p.Val622Asp)
c.-11T>A (n.-11T>A)
 gnomAD v4
6g.129250188T>CCA365609629LAMA2c.1859T>C (p.Val620Ala)
c.1865T>C (p.Val622Ala)
c.-11T>C (n.-11T>C)
6g.129250188T>GCA365609630LAMA2c.1859T>G (p.Val620Gly)
c.1865T>G (p.Val622Gly)
c.-11T>G (n.-11T>G)
6g.129250189T>ACA451936428LAMA2c.1860T>A (p.Val620=)
c.1866T>A (p.Val622=)
c.-10T>A (n.-10T>A)
6g.129250189T>CCA451936430LAMA2c.1860T>C (p.Val620=)
c.1866T>C (p.Val622=)
c.-10T>C (n.-10T>C)
6g.129250189T>GCA451936431LAMA2c.1860T>G (p.Val620=)
c.1866T>G (p.Val622=)
c.-10T>G (n.-10T>G)
6g.129250190C>ACA365609631LAMA2c.1861C>A (p.Leu621Ile)
c.1867C>A (p.Leu623Ile)
c.-9C>A (n.-9C>A)
 gnomAD v4
6g.129250190C=CA1663060483LAMA2c.1861C= (p.Leu621=)
c.1867C= (p.Leu623=)
c.-9C= (n.-9C=)
6g.129250190C>GCA365609632LAMA2c.1861C>G (p.Leu621Val)
c.1867C>G (p.Leu623Val)
c.-9C>G (n.-9C>G)
 gnomAD v4
6g.129250190C>TCA3992759LAMA2c.1861C>T (p.Leu621Phe)
c.1867C>T (p.Leu623Phe)
c.-9C>T (n.-9C>T)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
6g.129250191T>ACA365609634LAMA2c.1862T>A (p.Leu621His)
c.1868T>A (p.Leu623His)
c.-8T>A (n.-8T>A)
6g.129250191T>CCA365609633LAMA2c.1862T>C (p.Leu621Pro)
c.1868T>C (p.Leu623Pro)
c.-8T>C (n.-8T>C)
6g.129250191T>GCA365609635LAMA2c.1862T>G (p.Leu621Arg)
c.1868T>G (p.Leu623Arg)
c.-8T>G (n.-8T>G)
6g.129250192C>ACA3992760LAMA2c.1863C>A (p.Leu621=)
c.1869C>A (p.Leu623=)
c.-7C>A (n.-7C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129250192C=CA1663060488LAMA2c.1863C= (p.Leu621=)
c.1869C= (p.Leu623=)
c.-7C= (n.-7C=)
6g.129250192C>GCA451936435LAMA2c.1863C>G (p.Leu621=)
c.1869C>G (p.Leu623=)
c.-7C>G (n.-7C>G)
6g.129250192C>TCA451936436LAMA2c.1863C>T (p.Leu621=)
c.1869C>T (p.Leu623=)
c.-7C>T (n.-7C>T)
 ClinVar dbSNP gnomAD v4
6g.129250193C>ACA146918274LAMA2c.1864C>A (p.Gln622Lys)
c.1870C>A (p.Gln624Lys)
c.-6C>A (n.-6C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250193C=CA1663060493LAMA2c.1864C= (p.Gln622=)
c.1870C= (p.Gln624=)
c.-6C= (n.-6C=)
6g.129250193C>GCA365609636LAMA2c.1864C>G (p.Gln622Glu)
c.1870C>G (p.Gln624Glu)
c.-6C>G (n.-6C>G)
6g.129250193C>TCA365609637LAMA2c.1864C>T (p.Gln622Ter)
c.1870C>T (p.Gln624Ter)
c.-6C>T (n.-6C>T)
 gnomAD v4
6g.129250194A>CCA365609638LAMA2c.1865A>C (p.Gln622Pro)
c.1871A>C (p.Gln624Pro)
c.-5A>C (n.-5A>C)
6g.129250194A>GCA365609639LAMA2c.1865A>G (p.Gln622Arg)
c.1871A>G (p.Gln624Arg)
c.-5A>G (n.-5A>G)
 gnomAD v4
6g.129250194A>TCA365609640LAMA2c.1865A>T (p.Gln622Leu)
c.1871A>T (p.Gln624Leu)
c.-5A>T (n.-5A>T)
6g.129250195G>ACA451936437LAMA2c.1866G>A (p.Gln622=)
c.1872G>A (p.Gln624=)
c.-4G>A (n.-4G>A)
 dbSNP
6g.129250195G>CCA365609641LAMA2c.1866G>C (p.Gln622His)
c.1872G>C (p.Gln624His)
c.-4G>C (n.-4G>C)
6g.129250195G=CA1663060497LAMA2c.1866G= (p.Gln622=)
c.1872G= (p.Gln624=)
c.-4G= (n.-4G=)
6g.129250195G>TCA365609642LAMA2c.1866G>T (p.Gln622His)
c.1872G>T (p.Gln624His)
c.-4G>T (n.-4G>T)
6g.129250196C>ACA365609643LAMA2c.1867C>A (p.Leu623Ile)
c.1873C>A (p.Leu625Ile)
c.-3C>A (n.-3C>A)
 gnomAD v4
6g.129250196C=CA1663060500LAMA2c.1867C= (p.Leu623=)
c.1873C= (p.Leu625=)
c.-3C= (n.-3C=)
6g.129250196C>GCA365609644LAMA2c.1867C>G (p.Leu623Val)
c.1873C>G (p.Leu625Val)
c.-3C>G (n.-3C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250196C>TCA3992761LAMA2c.1867C>T (p.Leu623Phe)
c.1873C>T (p.Leu625Phe)
c.-3C>T (n.-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250197T>ACA365609645LAMA2c.1868T>A (p.Leu623His)
c.1874T>A (p.Leu625His)
c.-2T>A (n.-2T>A)
6g.129250197T>CCA365609646LAMA2c.1868T>C (p.Leu623Pro)
c.1874T>C (p.Leu625Pro)
c.-2T>C (n.-2T>C)
 gnomAD v4
6g.129250197T>GCA365609647LAMA2c.1868T>G (p.Leu623Arg)
c.1874T>G (p.Leu625Arg)
c.-2T>G (n.-2T>G)
6g.129250198delCA2680304576LAMA2c.1869del (p.Met624Ter)
c.1875del (p.Met626Ter)
c.-1del (n.-1del)
 gnomAD v4
6g.129250198T>ACA451936439LAMA2c.1869T>A (p.Leu623=)
c.1875T>A (p.Leu625=)
c.-1T>A (n.-1T>A)
6g.129250198T>CCA451936440LAMA2c.1869T>C (p.Leu623=)
c.1875T>C (p.Leu625=)
c.-1T>C (n.-1T>C)
 gnomAD v4
6g.129250198T>GCA451936441LAMA2c.1869T>G (p.Leu623=)
c.1875T>G (p.Leu625=)
c.-1T>G (n.-1T>G)
6g.129250199A>CCA365609650LAMA2c.1870A>C (p.Met624Leu)
c.1876A>C (p.Met626Leu)
c.1A>C (p.Met1Leu)
6g.129250199A>GCA365609648LAMA2c.1870A>G (p.Met624Val)
c.1876A>G (p.Met626Val)
c.1A>G (p.Met1Val)
 gnomAD v4
6g.129250199A>TCA365609649LAMA2c.1870A>T (p.Met624Leu)
c.1876A>T (p.Met626Leu)
c.1A>T (p.Met1Leu)
6g.129250200T>ACA365609651LAMA2c.1871T>A (p.Met624Lys)
c.1877T>A (p.Met626Lys)
c.2T>A (p.Met1Lys)
6g.129250200T>CCA365609652LAMA2c.1871T>C (p.Met624Thr)
c.1877T>C (p.Met626Thr)
c.2T>C (p.Met1Thr)
6g.129250200T>GCA365609653LAMA2c.1871T>G (p.Met624Arg)
c.1877T>G (p.Met626Arg)
c.2T>G (p.Met1Arg)
6g.129250201G>ACA365609654LAMA2c.1872G>A (p.Met624Ile)
c.1878G>A (p.Met626Ile)
c.3G>A (p.Met1Ile)
6g.129250201G>CCA365609655LAMA2c.1872G>C (p.Met624Ile)
c.1878G>C (p.Met626Ile)
c.3G>C (p.Met1Ile)
 dbSNP gnomAD v2 gnomAD v4
6g.129250201G=CA1663060504LAMA2c.1872G= (p.Met624=)
c.1878G= (p.Met626=)
c.3G= (p.Met1=)
6g.129250201G>TCA365609656LAMA2c.1872G>T (p.Met624Ile)
c.1878G>T (p.Met626Ile)
c.3G>T (p.Met1Ile)
6g.129250202A=CA1663060508LAMA2c.1873A= (p.Ile625=)
c.1879A= (p.Ile627=)
c.4A= (p.Ile2=)
6g.129250202A>CCA365609657LAMA2c.1873A>C (p.Ile625Leu)
c.1879A>C (p.Ile627Leu)
c.4A>C (p.Ile2Leu)
6g.129250202A>GCA3992762LAMA2c.1873A>G (p.Ile625Val)
c.1879A>G (p.Ile627Val)
c.4A>G (p.Ile2Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250202A>TCA365609658LAMA2c.1873A>T (p.Ile625Phe)
c.1879A>T (p.Ile627Phe)
c.4A>T (p.Ile2Phe)
 dbSNP gnomAD v3 gnomAD v4
6g.129250203T>ACA365609659LAMA2c.1874T>A (p.Ile625Asn)
c.1880T>A (p.Ile627Asn)
c.5T>A (p.Ile2Asn)
6g.129250203T>CCA146918280LAMA2c.1874T>C (p.Ile625Thr)
c.1880T>C (p.Ile627Thr)
c.5T>C (p.Ile2Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250203T>GCA365609660LAMA2c.1874T>G (p.Ile625Ser)
c.1880T>G (p.Ile627Ser)
c.5T>G (p.Ile2Ser)
6g.129250203T=CA1663060514LAMA2c.1874T= (p.Ile625=)
c.1880T= (p.Ile627=)
c.5T= (p.Ile2=)
6g.129250204dupCA2773033467LAMA2c.1875dup (p.Ile626TyrfsTer5)
c.1881dup (p.Ile628TyrfsTer5)
c.6dup (p.Ile3TyrfsTer5)
6g.129250204delCA2680304577LAMA2c.1875del (p.Ile626SerfsTer2)
c.1881del (p.Ile628SerfsTer2)
c.6del (p.Ile3SerfsTer2)
 gnomAD v4
6g.129250204T>ACA3992763LAMA2c.1875T>A (p.Ile625=)
c.1881T>A (p.Ile627=)
c.6T>A (p.Ile2=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129250204T>CCA451936443LAMA2c.1875T>C (p.Ile625=)
c.1881T>C (p.Ile627=)
c.6T>C (p.Ile2=)
6g.129250204T>GCA365609661LAMA2c.1875T>G (p.Ile625Met)
c.1881T>G (p.Ile627Met)
c.6T>G (p.Ile2Met)
6g.129250204T=CA1663060520LAMA2c.1875T= (p.Ile625=)
c.1881T= (p.Ile627=)
c.6T= (p.Ile2=)
6g.129250205A>CCA365609662LAMA2c.1876A>C (p.Ile626Leu)
c.1882A>C (p.Ile628Leu)
c.7A>C (p.Ile3Leu)
6g.129250205A>GCA365609663LAMA2c.1876A>G (p.Ile626Val)
c.1882A>G (p.Ile628Val)
c.7A>G (p.Ile3Val)
6g.129250205A>TCA365609664LAMA2c.1876A>T (p.Ile626Phe)
c.1882A>T (p.Ile628Phe)
c.7A>T (p.Ile3Phe)
6g.129250206delCA2573140445LAMA2c.1877del (p.Ile626ThrfsTer2)
c.1883del (p.Ile628ThrfsTer2)
c.8del (p.Ile3ThrfsTer2)
 ClinVar dbSNP
6g.129250206T>ACA365609665LAMA2c.1877T>A (p.Ile626Asn)
c.1883T>A (p.Ile628Asn)
c.8T>A (p.Ile3Asn)
 gnomAD v4
6g.129250206T>CCA365609666LAMA2c.1877T>C (p.Ile626Thr)
c.1883T>C (p.Ile628Thr)
c.8T>C (p.Ile3Thr)
6g.129250206T>GCA365609667LAMA2c.1877T>G (p.Ile626Ser)
c.1883T>G (p.Ile628Ser)
c.8T>G (p.Ile3Ser)
6g.129250207C>ACA451936445LAMA2c.1878C>A (p.Ile626=)
c.1884C>A (p.Ile628=)
c.9C>A (p.Ile3=)
 ClinVar dbSNP gnomAD v4
6g.129250207C=CA1663060525LAMA2c.1878C= (p.Ile626=)
c.1884C= (p.Ile628=)
c.9C= (p.Ile3=)
6g.129250207C>GCA365609668LAMA2c.1878C>G (p.Ile626Met)
c.1884C>G (p.Ile628Met)
c.9C>G (p.Ile3Met)
6g.129250207C>TCA451936446LAMA2c.1878C>T (p.Ile626=)
c.1884C>T (p.Ile628=)
c.9C>T (p.Ile3=)
 dbSNP gnomAD v3 gnomAD v4
6g.129250208T>ACA365609669LAMA2c.1879T>A (p.Leu627Ile)
c.1885T>A (p.Leu629Ile)
c.10T>A (p.Leu4Ile)
6g.129250208T>CCA451936447LAMA2c.1879T>C (p.Leu627=)
c.1885T>C (p.Leu629=)
c.10T>C (p.Leu4=)
 ClinVar gnomAD v4
6g.129250208T>GCA365609670LAMA2c.1879T>G (p.Leu627Val)
c.1885T>G (p.Leu629Val)
c.10T>G (p.Leu4Val)
 COSMIC
6g.129250209delCA2680304578LAMA2c.1880del (p.Leu627Ter)
c.1886del (p.Leu629Ter)
c.11del (p.Leu4Ter)
 gnomAD v4
6g.129250209T>ACA365609671LAMA2c.1880T>A (p.Leu627Ter)
c.1886T>A (p.Leu629Ter)
c.11T>A (p.Leu4Ter)
6g.129250209T>CCA365609672LAMA2c.1880T>C (p.Leu627Ser)
c.1886T>C (p.Leu629Ser)
c.11T>C (p.Leu4Ser)
 gnomAD v4
6g.129250209T>GCA365609673LAMA2c.1880T>G (p.Leu627Ter)
c.1886T>G (p.Leu629Ter)
c.11T>G (p.Leu4Ter)
6g.129250214_129250219delCA2695206979LAMA2c.1884+1_1884+6del
c.1890+1_1890+6del
c.15+1_15+6del
6g.129250210A>CCA365609674LAMA2c.1881A>C (p.Leu627Phe)
c.1887A>C (p.Leu629Phe)
c.12A>C (p.Leu4Phe)
6g.129250210A>GCA451936448LAMA2c.1881A>G (p.Leu627=)
c.1887A>G (p.Leu629=)
c.12A>G (p.Leu4=)
6g.129250210A>TCA365609675LAMA2c.1881A>T (p.Leu627Phe)
c.1887A>T (p.Leu629Phe)
c.12A>T (p.Leu4Phe)
6g.129250210_129250213delCA2580074893LAMA2c.1881_1884del (p.Glu628ValfsTer4)
c.1887_1890del (p.Glu630ValfsTer4)
c.12_15del (p.Glu5ValfsTer4)
 ClinVar
6g.129250211G>ACA240014LAMA2c.1882G>A (p.Glu628Lys)
c.1888G>A (p.Glu630Lys)
c.13G>A (p.Glu5Lys)
 ClinVar dbSNP
6g.129250211G>CCA365609677LAMA2c.1882G>C (p.Glu628Gln)
c.1888G>C (p.Glu630Gln)
c.13G>C (p.Glu5Gln)
6g.129250211G=CA1663060532LAMA2c.1882G= (p.Glu628=)
c.1888G= (p.Glu630=)
c.13G= (p.Glu5=)
6g.129250211G>TCA365609676LAMA2c.1882G>T (p.Glu628Ter)
c.1888G>T (p.Glu630Ter)
c.13G>T (p.Glu5Ter)
6g.129250212A>CCA365609678LAMA2c.1883A>C (p.Glu628Ala)
c.1889A>C (p.Glu630Ala)
c.14A>C (p.Glu5Ala)
6g.129250212A>GCA365609679LAMA2c.1883A>G (p.Glu628Gly)
c.1889A>G (p.Glu630Gly)
c.14A>G (p.Glu5Gly)
6g.129250212A>TCA365609680LAMA2c.1883A>T (p.Glu628Val)
c.1889A>T (p.Glu630Val)
c.14A>T (p.Glu5Val)
6g.129250213G>ACA451936452LAMA2c.1884G>A (p.Glu628=)
c.1890G>A (p.Glu630=)
c.15G>A (p.Glu5=)
 gnomAD v4
6g.129250213G>CCA365609681LAMA2c.1884G>C (p.Glu628Asp)
c.1890G>C (p.Glu630Asp)
c.15G>C (p.Glu5Asp)
6g.129250213G>TCA365609682LAMA2c.1884G>T (p.Glu628Asp)
c.1890G>T (p.Glu630Asp)
c.15G>T (p.Glu5Asp)
6g.129250214G>ACA365609683LAMA2c.1884+1G>A (n.1884+1G>A)
c.1890+1G>A (n.1890+1G>A)
c.15+1G>A (n.15+1G>A)
 ClinVar dbSNP gnomAD v4
6g.129250214G>CCA365609684LAMA2c.1884+1G>C (n.1884+1G>C)
c.1890+1G>C (n.1890+1G>C)
c.15+1G>C (n.15+1G>C)
6g.129250214G>TCA365609685LAMA2c.1884+1G>T (n.1884+1G>T)
c.1890+1G>T (n.1890+1G>T)
c.15+1G>T (n.15+1G>T)
 ClinVar
6g.129250215T>ACA365609686LAMA2c.1884+2T>A (n.1884+2T>A)
c.1890+2T>A (n.1890+2T>A)
c.15+2T>A (n.15+2T>A)
 gnomAD v4
6g.129250215T>CCA146918284LAMA2c.1884+2T>C (n.1884+2T>C)
c.1890+2T>C (n.1890+2T>C)
c.15+2T>C (n.15+2T>C)
 ClinVar dbSNP gnomAD v4
6g.129250215T>GCA365609687LAMA2c.1884+2T>G (n.1884+2T>G)
c.1890+2T>G (n.1890+2T>G)
c.15+2T>G (n.15+2T>G)
6g.129250215T=CA1663060535LAMA2c.1884+2T= (n.1884+2T=)
c.1890+2T= (n.1890+2T=)
c.15+2T= (n.15+2T=)
6g.129250216A=CA1663060538LAMA2c.1884+3A= (n.1884+3A=)
c.1890+3A= (n.1890+3A=)
c.15+3A= (n.15+3A=)
6g.129250216A>GCA570053436LAMA2c.1884+3A>G (n.1884+3A>G)
c.1890+3A>G (n.1890+3A>G)
c.15+3A>G (n.15+3A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129250218_129250219delCA2842650071LAMA2c.1884+5_1884+6del (n.1884+5_1884+6del)
c.1890+5_1890+6del (n.1890+5_1890+6del)
c.15+5_15+6del (n.15+5_15+6del)

Number of alleles fetched