Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.129427749_129427754delCA2578737524LAMA2c.5866-3_5868del
c.6130-3_6132del
c.6136-3_6138del
c.4261-3_4263del
6g.129427753C>ACA365623868LAMA2c.5867C>A (p.Ala1956Glu)
c.6131C>A (p.Ala2044Glu)
c.6137C>A (p.Ala2046Glu)
c.4262C>A (p.Ala1421Glu)
 gnomAD v4
6g.129427753C=CA1663161497LAMA2c.5867C= (p.Ala1956=)
c.6131C= (p.Ala2044=)
c.6137C= (p.Ala2046=)
c.4262C= (p.Ala1421=)
6g.129427753C>GCA365623869LAMA2c.5867C>G (p.Ala1956Gly)
c.6131C>G (p.Ala2044Gly)
c.6137C>G (p.Ala2046Gly)
c.4262C>G (p.Ala1421Gly)
6g.129427753C>TCA365623870LAMA2c.5867C>T (p.Ala1956Val)
c.6131C>T (p.Ala2044Val)
c.6137C>T (p.Ala2046Val)
c.4262C>T (p.Ala1421Val)
 dbSNP gnomAD v4
6g.129427754A>CCA451930395LAMA2c.5868A>C (p.Ala1956=)
c.6132A>C (p.Ala2044=)
c.6138A>C (p.Ala2046=)
c.4263A>C (p.Ala1421=)
6g.129427754A>GCA451930397LAMA2c.5868A>G (p.Ala1956=)
c.6132A>G (p.Ala2044=)
c.6138A>G (p.Ala2046=)
c.4263A>G (p.Ala1421=)
6g.129427754A>TCA451930399LAMA2c.5868A>T (p.Ala1956=)
c.6132A>T (p.Ala2044=)
c.6138A>T (p.Ala2046=)
c.4263A>T (p.Ala1421=)
6g.129427755A=CA1663161511LAMA2c.5869A= (p.Thr1957=)
c.6133A= (p.Thr2045=)
c.6139A= (p.Thr2047=)
c.4264A= (p.Thr1422=)
6g.129427755A>CCA365623873LAMA2c.5869A>C (p.Thr1957Pro)
c.6133A>C (p.Thr2045Pro)
c.6139A>C (p.Thr2047Pro)
c.4264A>C (p.Thr1422Pro)
6g.129427755A>GCA365623871LAMA2c.5869A>G (p.Thr1957Ala)
c.6133A>G (p.Thr2045Ala)
c.6139A>G (p.Thr2047Ala)
c.4264A>G (p.Thr1422Ala)
 dbSNP gnomAD v4
6g.129427755A>TCA365623872LAMA2c.5869A>T (p.Thr1957Ser)
c.6133A>T (p.Thr2045Ser)
c.6139A>T (p.Thr2047Ser)
c.4264A>T (p.Thr1422Ser)
6g.129427756C>ACA365623874LAMA2c.5870C>A (p.Thr1957Lys)
c.6134C>A (p.Thr2045Lys)
c.6140C>A (p.Thr2047Lys)
c.4265C>A (p.Thr1422Lys)
6g.129427756C=CA1663161519LAMA2c.5870C= (p.Thr1957=)
c.6134C= (p.Thr2045=)
c.6140C= (p.Thr2047=)
c.4265C= (p.Thr1422=)
6g.129427756C>GCA365623875LAMA2c.5870C>G (p.Thr1957Arg)
c.6134C>G (p.Thr2045Arg)
c.6140C>G (p.Thr2047Arg)
c.4265C>G (p.Thr1422Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.129427756C>TCA365623876LAMA2c.5870C>T (p.Thr1957Ile)
c.6134C>T (p.Thr2045Ile)
c.6140C>T (p.Thr2047Ile)
c.4265C>T (p.Thr1422Ile)
6g.129427757A>CCA451930411LAMA2c.5871A>C (p.Thr1957=)
c.6135A>C (p.Thr2045=)
c.6141A>C (p.Thr2047=)
c.4266A>C (p.Thr1422=)
6g.129427757A>GCA451930413LAMA2c.5871A>G (p.Thr1957=)
c.6135A>G (p.Thr2045=)
c.6141A>G (p.Thr2047=)
c.4266A>G (p.Thr1422=)
 gnomAD v4
6g.129427757A>TCA451930414LAMA2c.5871A>T (p.Thr1957=)
c.6135A>T (p.Thr2045=)
c.6141A>T (p.Thr2047=)
c.4266A>T (p.Thr1422=)
6g.129427758G>ACA365623877LAMA2c.5872G>A (p.Gly1958Ser)
c.6136G>A (p.Gly2046Ser)
c.6142G>A (p.Gly2048Ser)
c.4267G>A (p.Gly1423Ser)
6g.129427758G>CCA365623878LAMA2c.5872G>C (p.Gly1958Arg)
c.6136G>C (p.Gly2046Arg)
c.6142G>C (p.Gly2048Arg)
c.4267G>C (p.Gly1423Arg)
6g.129427758G>TCA365623879LAMA2c.5872G>T (p.Gly1958Cys)
c.6136G>T (p.Gly2046Cys)
c.6142G>T (p.Gly2048Cys)
c.4267G>T (p.Gly1423Cys)
6g.129427759G>ACA3994022LAMA2c.5873G>A (p.Gly1958Asp)
c.6137G>A (p.Gly2046Asp)
c.6143G>A (p.Gly2048Asp)
c.4268G>A (p.Gly1423Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427759G>CCA365623880LAMA2c.5873G>C (p.Gly1958Ala)
c.6137G>C (p.Gly2046Ala)
c.6143G>C (p.Gly2048Ala)
c.4268G>C (p.Gly1423Ala)
6g.129427759G=CA1663161525LAMA2c.5873G= (p.Gly1958=)
c.6137G= (p.Gly2046=)
c.6143G= (p.Gly2048=)
c.4268G= (p.Gly1423=)
6g.129427759G>TCA365623881LAMA2c.5873G>T (p.Gly1958Val)
c.6137G>T (p.Gly2046Val)
c.6143G>T (p.Gly2048Val)
c.4268G>T (p.Gly1423Val)
6g.129427760T>ACA451930432LAMA2c.5874T>A (p.Gly1958=)
c.6138T>A (p.Gly2046=)
c.6144T>A (p.Gly2048=)
c.4269T>A (p.Gly1423=)
6g.129427760T>CCA451930435LAMA2c.5874T>C (p.Gly1958=)
c.6138T>C (p.Gly2046=)
c.6144T>C (p.Gly2048=)
c.4269T>C (p.Gly1423=)
6g.129427760T>GCA451930436LAMA2c.5874T>G (p.Gly1958=)
c.6138T>G (p.Gly2046=)
c.6144T>G (p.Gly2048=)
c.4269T>G (p.Gly1423=)
6g.129427761C>ACA365623882LAMA2c.5875C>A (p.Pro1959Thr)
c.6139C>A (p.Pro2047Thr)
c.6145C>A (p.Pro2049Thr)
c.4270C>A (p.Pro1424Thr)
6g.129427761C>GCA365623883LAMA2c.5875C>G (p.Pro1959Ala)
c.6139C>G (p.Pro2047Ala)
c.6145C>G (p.Pro2049Ala)
c.4270C>G (p.Pro1424Ala)
6g.129427761C>TCA365623884LAMA2c.5875C>T (p.Pro1959Ser)
c.6139C>T (p.Pro2047Ser)
c.6145C>T (p.Pro2049Ser)
c.4270C>T (p.Pro1424Ser)
6g.129427762C>ACA365623887LAMA2c.5876C>A (p.Pro1959His)
c.6140C>A (p.Pro2047His)
c.6146C>A (p.Pro2049His)
c.4271C>A (p.Pro1424His)
 COSMIC
6g.129427762C>GCA365623885LAMA2c.5876C>G (p.Pro1959Arg)
c.6140C>G (p.Pro2047Arg)
c.6146C>G (p.Pro2049Arg)
c.4271C>G (p.Pro1424Arg)
6g.129427762C>TCA365623886LAMA2c.5876C>T (p.Pro1959Leu)
c.6140C>T (p.Pro2047Leu)
c.6146C>T (p.Pro2049Leu)
c.4271C>T (p.Pro1424Leu)
6g.129427763T>ACA451930451LAMA2c.5877T>A (p.Pro1959=)
c.6141T>A (p.Pro2047=)
c.6147T>A (p.Pro2049=)
c.4272T>A (p.Pro1424=)
 dbSNP gnomAD v3 gnomAD v4
6g.129427763T>CCA451930457LAMA2c.5877T>C (p.Pro1959=)
c.6141T>C (p.Pro2047=)
c.6147T>C (p.Pro2049=)
c.4272T>C (p.Pro1424=)
 ClinVar gnomAD v4
6g.129427763T>GCA451930454LAMA2c.5877T>G (p.Pro1959=)
c.6141T>G (p.Pro2047=)
c.6147T>G (p.Pro2049=)
c.4272T>G (p.Pro1424=)
6g.129427763T=CA1663161531LAMA2c.5877T= (p.Pro1959=)
c.6141T= (p.Pro2047=)
c.6147T= (p.Pro2049=)
c.4272T= (p.Pro1424=)
6g.129427764C>ACA451930460LAMA2c.5878C>A (p.Arg1960=)
c.6142C>A (p.Arg2048=)
c.6148C>A (p.Arg2050=)
c.4273C>A (p.Arg1425=)
 dbSNP gnomAD v2 gnomAD v4
6g.129427764C=CA1663161538LAMA2c.5878C= (p.Arg1960=)
c.6142C= (p.Arg2048=)
c.6148C= (p.Arg2050=)
c.4273C= (p.Arg1425=)
6g.129427764C>GCA365623888LAMA2c.5878C>G (p.Arg1960Gly)
c.6142C>G (p.Arg2048Gly)
c.6148C>G (p.Arg2050Gly)
c.4273C>G (p.Arg1425Gly)
6g.129427764C>TCA146909005LAMA2c.5878C>T (p.Arg1960Trp)
c.6142C>T (p.Arg2048Trp)
c.6148C>T (p.Arg2050Trp)
c.4273C>T (p.Arg1425Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427765G>ACA3994023LAMA2c.5879G>A (p.Arg1960Gln)
c.6143G>A (p.Arg2048Gln)
c.6149G>A (p.Arg2050Gln)
c.4274G>A (p.Arg1425Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427765G>CCA365623889LAMA2c.5879G>C (p.Arg1960Pro)
c.6143G>C (p.Arg2048Pro)
c.6149G>C (p.Arg2050Pro)
c.4274G>C (p.Arg1425Pro)
6g.129427765G=CA1663161542LAMA2c.5879G= (p.Arg1960=)
c.6143G= (p.Arg2048=)
c.6149G= (p.Arg2050=)
c.4274G= (p.Arg1425=)
6g.129427765G>TCA365623890LAMA2c.5879G>T (p.Arg1960Leu)
c.6143G>T (p.Arg2048Leu)
c.6149G>T (p.Arg2050Leu)
c.4274G>T (p.Arg1425Leu)
6g.129427766G>ACA451930477LAMA2c.5880G>A (p.Arg1960=)
c.6144G>A (p.Arg2048=)
c.6150G>A (p.Arg2050=)
c.4275G>A (p.Arg1425=)
 ClinVar dbSNP gnomAD v4
6g.129427766G>CCA451930483LAMA2c.5880G>C (p.Arg1960=)
c.6144G>C (p.Arg2048=)
c.6150G>C (p.Arg2050=)
c.4275G>C (p.Arg1425=)
6g.129427766G>TCA451930486LAMA2c.5880G>T (p.Arg1960=)
c.6144G>T (p.Arg2048=)
c.6150G>T (p.Arg2050=)
c.4275G>T (p.Arg1425=)
6g.129427767G>ACA3994024LAMA2c.5881G>A (p.Gly1961Ser)
c.6145G>A (p.Gly2049Ser)
c.6151G>A (p.Gly2051Ser)
c.4276G>A (p.Gly1426Ser)
 dbSNP ExAC gnomAD v2
6g.129427767G>CCA365623891LAMA2c.5881G>C (p.Gly1961Arg)
c.6145G>C (p.Gly2049Arg)
c.6151G>C (p.Gly2051Arg)
c.4276G>C (p.Gly1426Arg)
6g.129427767G=CA1663161545LAMA2c.5881G= (p.Gly1961=)
c.6145G= (p.Gly2049=)
c.6151G= (p.Gly2051=)
c.4276G= (p.Gly1426=)
6g.129427767G>TCA3994025LAMA2c.5881G>T (p.Gly1961Cys)
c.6145G>T (p.Gly2049Cys)
c.6151G>T (p.Gly2051Cys)
c.4276G>T (p.Gly1426Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.129427768G>ACA365623892LAMA2c.5882G>A (p.Gly1961Asp)
c.6146G>A (p.Gly2049Asp)
c.6152G>A (p.Gly2051Asp)
c.4277G>A (p.Gly1426Asp)
6g.129427768G>CCA365623893LAMA2c.5882G>C (p.Gly1961Ala)
c.6146G>C (p.Gly2049Ala)
c.6152G>C (p.Gly2051Ala)
c.4277G>C (p.Gly1426Ala)
6g.129427768G=CA1663161548LAMA2c.5882G= (p.Gly1961=)
c.6146G= (p.Gly2049=)
c.6152G= (p.Gly2051=)
c.4277G= (p.Gly1426=)
6g.129427768G>TCA365623894LAMA2c.5882G>T (p.Gly1961Val)
c.6146G>T (p.Gly2049Val)
c.6152G>T (p.Gly2051Val)
c.4277G>T (p.Gly1426Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.129427769T>ACA451930502LAMA2c.5883T>A (p.Gly1961=)
c.6147T>A (p.Gly2049=)
c.6153T>A (p.Gly2051=)
c.4278T>A (p.Gly1426=)
6g.129427769T>CCA451930504LAMA2c.5883T>C (p.Gly1961=)
c.6147T>C (p.Gly2049=)
c.6153T>C (p.Gly2051=)
c.4278T>C (p.Gly1426=)
6g.129427769T>GCA451930507LAMA2c.5883T>G (p.Gly1961=)
c.6147T>G (p.Gly2049=)
c.6153T>G (p.Gly2051=)
c.4278T>G (p.Gly1426=)
6g.129427770T>ACA365623895LAMA2c.5884T>A (p.Leu1962Ile)
c.6148T>A (p.Leu2050Ile)
c.6154T>A (p.Leu2052Ile)
c.4279T>A (p.Leu1427Ile)
6g.129427770T>CCA451930509LAMA2c.5884T>C (p.Leu1962=)
c.6148T>C (p.Leu2050=)
c.6154T>C (p.Leu2052=)
c.4279T>C (p.Leu1427=)
6g.129427770T>GCA365623896LAMA2c.5884T>G (p.Leu1962Val)
c.6148T>G (p.Leu2050Val)
c.6154T>G (p.Leu2052Val)
c.4279T>G (p.Leu1427Val)
6g.129427771T>ACA365623897LAMA2c.5885T>A (p.Leu1962Ter)
c.6149T>A (p.Leu2050Ter)
c.6155T>A (p.Leu2052Ter)
c.4280T>A (p.Leu1427Ter)
6g.129427771T>CCA365623898LAMA2c.5885T>C (p.Leu1962Ser)
c.6149T>C (p.Leu2050Ser)
c.6155T>C (p.Leu2052Ser)
c.4280T>C (p.Leu1427Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.129427771T>GCA365623899LAMA2c.5885T>G (p.Leu1962Ter)
c.6149T>G (p.Leu2050Ter)
c.6155T>G (p.Leu2052Ter)
c.4280T>G (p.Leu1427Ter)
6g.129427771T=CA1663161552LAMA2c.5885T= (p.Leu1962=)
c.6149T= (p.Leu2050=)
c.6155T= (p.Leu2052=)
c.4280T= (p.Leu1427=)
6g.129427772A=CA1663161559LAMA2c.5886A= (p.Leu1962=)
c.6150A= (p.Leu2050=)
c.6156A= (p.Leu2052=)
c.4281A= (p.Leu1427=)
6g.129427772A>CCA365623900LAMA2c.5886A>C (p.Leu1962Phe)
c.6150A>C (p.Leu2050Phe)
c.6156A>C (p.Leu2052Phe)
c.4281A>C (p.Leu1427Phe)
6g.129427772A>GCA451930517LAMA2c.5886A>G (p.Leu1962=)
c.6150A>G (p.Leu2050=)
c.6156A>G (p.Leu2052=)
c.4281A>G (p.Leu1427=)
 dbSNP gnomAD v2
6g.129427772A>TCA365623901LAMA2c.5886A>T (p.Leu1962Phe)
c.6150A>T (p.Leu2050Phe)
c.6156A>T (p.Leu2052Phe)
c.4281A>T (p.Leu1427Phe)
6g.129427773T>ACA365623902LAMA2c.5887T>A (p.Leu1963Ile)
c.6151T>A (p.Leu2051Ile)
c.6157T>A (p.Leu2053Ile)
c.4282T>A (p.Leu1428Ile)
6g.129427773T>CCA451930529LAMA2c.5887T>C (p.Leu1963=)
c.6151T>C (p.Leu2051=)
c.6157T>C (p.Leu2053=)
c.4282T>C (p.Leu1428=)
 dbSNP
6g.129427773T>GCA365623903LAMA2c.5887T>G (p.Leu1963Val)
c.6151T>G (p.Leu2051Val)
c.6157T>G (p.Leu2053Val)
c.4282T>G (p.Leu1428Val)
6g.129427773T=CA1663161562LAMA2c.5887T= (p.Leu1963=)
c.6151T= (p.Leu2051=)
c.6157T= (p.Leu2053=)
c.4282T= (p.Leu1428=)
6g.129427774T>ACA365623904LAMA2c.5888T>A (p.Leu1963Ter)
c.6152T>A (p.Leu2051Ter)
c.6158T>A (p.Leu2053Ter)
c.4283T>A (p.Leu1428Ter)
6g.129427774T>CCA365623905LAMA2c.5888T>C (p.Leu1963Ser)
c.6152T>C (p.Leu2051Ser)
c.6158T>C (p.Leu2053Ser)
c.4283T>C (p.Leu1428Ser)
6g.129427774T>GCA365623906LAMA2c.5888T>G (p.Leu1963Ter)
c.6152T>G (p.Leu2051Ter)
c.6158T>G (p.Leu2053Ter)
c.4283T>G (p.Leu1428Ter)
6g.129427775A>CCA365623907LAMA2c.5889A>C (p.Leu1963Phe)
c.6153A>C (p.Leu2051Phe)
c.6159A>C (p.Leu2053Phe)
c.4284A>C (p.Leu1428Phe)
6g.129427775A>GCA451930542LAMA2c.5889A>G (p.Leu1963=)
c.6153A>G (p.Leu2051=)
c.6159A>G (p.Leu2053=)
c.4284A>G (p.Leu1428=)
6g.129427775A>TCA365623908LAMA2c.5889A>T (p.Leu1963Phe)
c.6153A>T (p.Leu2051Phe)
c.6159A>T (p.Leu2053Phe)
c.4284A>T (p.Leu1428Phe)
6g.129427776A>CCA365623909LAMA2c.5890A>C (p.Lys1964Gln)
c.6154A>C (p.Lys2052Gln)
c.6160A>C (p.Lys2054Gln)
c.4285A>C (p.Lys1429Gln)
6g.129427776A>GCA365623910LAMA2c.5890A>G (p.Lys1964Glu)
c.6154A>G (p.Lys2052Glu)
c.6160A>G (p.Lys2054Glu)
c.4285A>G (p.Lys1429Glu)
6g.129427776A>TCA365623911LAMA2c.5890A>T (p.Lys1964Ter)
c.6154A>T (p.Lys2052Ter)
c.6160A>T (p.Lys2054Ter)
c.4285A>T (p.Lys1429Ter)
6g.129427779_129427782delCA2680309245LAMA2c.5893_5896del (p.Glu1965MetfsTer19)
c.6157_6160del (p.Glu2053MetfsTer19)
c.6163_6166del (p.Glu2055MetfsTer19)
c.4288_4291del (p.Glu1430MetfsTer19)
 gnomAD v4
6g.129427777A>CCA365623912LAMA2c.5891A>C (p.Lys1964Thr)
c.6155A>C (p.Lys2052Thr)
c.6161A>C (p.Lys2054Thr)
c.4286A>C (p.Lys1429Thr)
6g.129427777A>GCA365623913LAMA2c.5891A>G (p.Lys1964Arg)
c.6155A>G (p.Lys2052Arg)
c.6161A>G (p.Lys2054Arg)
c.4286A>G (p.Lys1429Arg)
6g.129427777A>TCA365623914LAMA2c.5891A>T (p.Lys1964Met)
c.6155A>T (p.Lys2052Met)
c.6161A>T (p.Lys2054Met)
c.4286A>T (p.Lys1429Met)
6g.129427778G>ACA451930575LAMA2c.5892G>A (p.Lys1964=)
c.6156G>A (p.Lys2052=)
c.6162G>A (p.Lys2054=)
c.4287G>A (p.Lys1429=)
 COSMIC
6g.129427778G>CCA365623916LAMA2c.5892G>C (p.Lys1964Asn)
c.6156G>C (p.Lys2052Asn)
c.6162G>C (p.Lys2054Asn)
c.4287G>C (p.Lys1429Asn)
6g.129427778G>TCA365623915LAMA2c.5892G>T (p.Lys1964Asn)
c.6156G>T (p.Lys2052Asn)
c.6162G>T (p.Lys2054Asn)
c.4287G>T (p.Lys1429Asn)
6g.129427779G>ACA10621369LAMA2c.5893G>A (p.Glu1965Lys)
c.6157G>A (p.Glu2053Lys)
c.6163G>A (p.Glu2055Lys)
c.4288G>A (p.Glu1430Lys)
 ClinVar dbSNP gnomAD v4
6g.129427779G>CCA365623917LAMA2c.5893G>C (p.Glu1965Gln)
c.6157G>C (p.Glu2053Gln)
c.6163G>C (p.Glu2055Gln)
c.4288G>C (p.Glu1430Gln)
6g.129427779G=CA1663161565LAMA2c.5893G= (p.Glu1965=)
c.6157G= (p.Glu2053=)
c.6163G= (p.Glu2055=)
c.4288G= (p.Glu1430=)
6g.129427779G>TCA365623918LAMA2c.5893G>T (p.Glu1965Ter)
c.6157G>T (p.Glu2053Ter)
c.6163G>T (p.Glu2055Ter)
c.4288G>T (p.Glu1430Ter)
6g.129427780A>CCA365623919LAMA2c.5894A>C (p.Glu1965Ala)
c.6158A>C (p.Glu2053Ala)
c.6164A>C (p.Glu2055Ala)
c.4289A>C (p.Glu1430Ala)
6g.129427780A>GCA365623920LAMA2c.5894A>G (p.Glu1965Gly)
c.6158A>G (p.Glu2053Gly)
c.6164A>G (p.Glu2055Gly)
c.4289A>G (p.Glu1430Gly)
6g.129427780A>TCA365623921LAMA2c.5894A>T (p.Glu1965Val)
c.6158A>T (p.Glu2053Val)
c.6164A>T (p.Glu2055Val)
c.4289A>T (p.Glu1430Val)
6g.129427781A=CA1663161577LAMA2c.5895A= (p.Glu1965=)
c.6159A= (p.Glu2053=)
c.6165A= (p.Glu2055=)
c.4290A= (p.Glu1430=)
6g.129427781A>CCA365623922LAMA2c.5895A>C (p.Glu1965Asp)
c.6159A>C (p.Glu2053Asp)
c.6165A>C (p.Glu2055Asp)
c.4290A>C (p.Glu1430Asp)
6g.129427781A>GCA451930597LAMA2c.5895A>G (p.Glu1965=)
c.6159A>G (p.Glu2053=)
c.6165A>G (p.Glu2055=)
c.4290A>G (p.Glu1430=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.129427781A>TCA365623923LAMA2c.5895A>T (p.Glu1965Asp)
c.6159A>T (p.Glu2053Asp)
c.6165A>T (p.Glu2055Asp)
c.4290A>T (p.Glu1430Asp)
6g.129427782G>ACA365623924LAMA2c.5896G>A (p.Asp1966Asn)
c.6160G>A (p.Asp2054Asn)
c.6166G>A (p.Asp2056Asn)
c.4291G>A (p.Asp1431Asn)
 COSMIC
6g.129427782G>CCA365623925LAMA2c.5896G>C (p.Asp1966His)
c.6160G>C (p.Asp2054His)
c.6166G>C (p.Asp2056His)
c.4291G>C (p.Asp1431His)
6g.129427782G>TCA365623926LAMA2c.5896G>T (p.Asp1966Tyr)
c.6160G>T (p.Asp2054Tyr)
c.6166G>T (p.Asp2056Tyr)
c.4291G>T (p.Asp1431Tyr)
 COSMIC
6g.129427783A>CCA365623927LAMA2c.5897A>C (p.Asp1966Ala)
c.6161A>C (p.Asp2054Ala)
c.6167A>C (p.Asp2056Ala)
c.4292A>C (p.Asp1431Ala)
6g.129427783A>GCA365623928LAMA2c.5897A>G (p.Asp1966Gly)
c.6161A>G (p.Asp2054Gly)
c.6167A>G (p.Asp2056Gly)
c.4292A>G (p.Asp1431Gly)
6g.129427783A>TCA365623929LAMA2c.5897A>T (p.Asp1966Val)
c.6161A>T (p.Asp2054Val)
c.6167A>T (p.Asp2056Val)
c.4292A>T (p.Asp1431Val)
6g.129427784T>ACA365623931LAMA2c.5898T>A (p.Asp1966Glu)
c.6162T>A (p.Asp2054Glu)
c.6168T>A (p.Asp2056Glu)
c.4293T>A (p.Asp1431Glu)
 dbSNP
6g.129427784T>CCA451930615LAMA2c.5898T>C (p.Asp1966=)
c.6162T>C (p.Asp2054=)
c.6168T>C (p.Asp2056=)
c.4293T>C (p.Asp1431=)
6g.129427784T>GCA365623930LAMA2c.5898T>G (p.Asp1966Glu)
c.6162T>G (p.Asp2054Glu)
c.6168T>G (p.Asp2056Glu)
c.4293T>G (p.Asp1431Glu)
6g.129427784T=CA1663161581LAMA2c.5898T= (p.Asp1966=)
c.6162T= (p.Asp2054=)
c.6168T= (p.Asp2056=)
c.4293T= (p.Asp1431=)
6g.129427785G>ACA365623932LAMA2c.5899G>A (p.Ala1967Thr)
c.6163G>A (p.Ala2055Thr)
c.6169G>A (p.Ala2057Thr)
c.4294G>A (p.Ala1432Thr)
6g.129427785G>CCA365623933LAMA2c.5899G>C (p.Ala1967Pro)
c.6163G>C (p.Ala2055Pro)
c.6169G>C (p.Ala2057Pro)
c.4294G>C (p.Ala1432Pro)
6g.129427785G=CA1663161589LAMA2c.5899G= (p.Ala1967=)
c.6163G= (p.Ala2055=)
c.6169G= (p.Ala2057=)
c.4294G= (p.Ala1432=)
6g.129427785G>TCA3994026LAMA2c.5899G>T (p.Ala1967Ser)
c.6163G>T (p.Ala2055Ser)
c.6169G>T (p.Ala2057Ser)
c.4294G>T (p.Ala1432Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427786C>ACA365623934LAMA2c.5900C>A (p.Ala1967Asp)
c.6164C>A (p.Ala2055Asp)
c.6170C>A (p.Ala2057Asp)
c.4295C>A (p.Ala1432Asp)
 gnomAD v4
6g.129427786C>GCA365623935LAMA2c.5900C>G (p.Ala1967Gly)
c.6164C>G (p.Ala2055Gly)
c.6170C>G (p.Ala2057Gly)
c.4295C>G (p.Ala1432Gly)
6g.129427786C>TCA365623936LAMA2c.5900C>T (p.Ala1967Val)
c.6164C>T (p.Ala2055Val)
c.6170C>T (p.Ala2057Val)
c.4295C>T (p.Ala1432Val)
 gnomAD v4
6g.129427787delCA2680309246LAMA2c.5901del (p.Gly1969AlafsTer16)
c.6165del (p.Gly2057AlafsTer16)
c.6171del (p.Gly2059AlafsTer16)
c.4296del (p.Gly1434AlafsTer16)
 gnomAD v4
6g.129427787C>ACA451930627LAMA2c.5901C>A (p.Ala1967=)
c.6165C>A (p.Ala2055=)
c.6171C>A (p.Ala2057=)
c.4296C>A (p.Ala1432=)
6g.129427787C=CA1663161597LAMA2c.5901C= (p.Ala1967=)
c.6165C= (p.Ala2055=)
c.6171C= (p.Ala2057=)
c.4296C= (p.Ala1432=)
6g.129427787C>GCA451930626LAMA2c.5901C>G (p.Ala1967=)
c.6165C>G (p.Ala2055=)
c.6171C>G (p.Ala2057=)
c.4296C>G (p.Ala1432=)
 ClinVar dbSNP
6g.129427787C>TCA451930625LAMA2c.5901C>T (p.Ala1967=)
c.6165C>T (p.Ala2055=)
c.6171C>T (p.Ala2057=)
c.4296C>T (p.Ala1432=)
 gnomAD v4
6g.129427788A>CCA365623939LAMA2c.5902A>C (p.Lys1968Gln)
c.6166A>C (p.Lys2056Gln)
c.6172A>C (p.Lys2058Gln)
c.4297A>C (p.Lys1433Gln)
6g.129427788A>GCA365623937LAMA2c.5902A>G (p.Lys1968Glu)
c.6166A>G (p.Lys2056Glu)
c.6172A>G (p.Lys2058Glu)
c.4297A>G (p.Lys1433Glu)
6g.129427788A>TCA365623938LAMA2c.5902A>T (p.Lys1968Ter)
c.6166A>T (p.Lys2056Ter)
c.6172A>T (p.Lys2058Ter)
c.4297A>T (p.Lys1433Ter)
6g.129427789A=CA1663161604LAMA2c.5903A= (p.Lys1968=)
c.6167A= (p.Lys2056=)
c.6173A= (p.Lys2058=)
c.4298A= (p.Lys1433=)
6g.129427789A>CCA365623940LAMA2c.5903A>C (p.Lys1968Thr)
c.6167A>C (p.Lys2056Thr)
c.6173A>C (p.Lys2058Thr)
c.4298A>C (p.Lys1433Thr)
6g.129427789A>GCA3994027LAMA2c.5903A>G (p.Lys1968Arg)
c.6167A>G (p.Lys2056Arg)
c.6173A>G (p.Lys2058Arg)
c.4298A>G (p.Lys1433Arg)
 dbSNP ExAC
6g.129427789A>TCA365623941LAMA2c.5903A>T (p.Lys1968Ile)
c.6167A>T (p.Lys2056Ile)
c.6173A>T (p.Lys2058Ile)
c.4298A>T (p.Lys1433Ile)
6g.129427790A>CCA365623942LAMA2c.5904A>C (p.Lys1968Asn)
c.6168A>C (p.Lys2056Asn)
c.6174A>C (p.Lys2058Asn)
c.4299A>C (p.Lys1433Asn)
6g.129427790A>GCA451930657LAMA2c.5904A>G (p.Lys1968=)
c.6168A>G (p.Lys2056=)
c.6174A>G (p.Lys2058=)
c.4299A>G (p.Lys1433=)
6g.129427790A>TCA365623943LAMA2c.5904A>T (p.Lys1968Asn)
c.6168A>T (p.Lys2056Asn)
c.6174A>T (p.Lys2058Asn)
c.4299A>T (p.Lys1433Asn)
6g.129427791G>ACA365623944LAMA2c.5905G>A (p.Gly1969Ser)
c.6169G>A (p.Gly2057Ser)
c.6175G>A (p.Gly2059Ser)
c.4300G>A (p.Gly1434Ser)
6g.129427791G>CCA365623946LAMA2c.5905G>C (p.Gly1969Arg)
c.6169G>C (p.Gly2057Arg)
c.6175G>C (p.Gly2059Arg)
c.4300G>C (p.Gly1434Arg)
6g.129427791G>TCA365623945LAMA2c.5905G>T (p.Gly1969Cys)
c.6169G>T (p.Gly2057Cys)
c.6175G>T (p.Gly2059Cys)
c.4300G>T (p.Gly1434Cys)
6g.129427792G>ACA365623947LAMA2c.5906G>A (p.Gly1969Asp)
c.6170G>A (p.Gly2057Asp)
c.6176G>A (p.Gly2059Asp)
c.4301G>A (p.Gly1434Asp)
 ClinVar gnomAD v4
6g.129427792G>CCA365623949LAMA2c.5906G>C (p.Gly1969Ala)
c.6170G>C (p.Gly2057Ala)
c.6176G>C (p.Gly2059Ala)
c.4301G>C (p.Gly1434Ala)
 gnomAD v4
6g.129427792G>TCA365623948LAMA2c.5906G>T (p.Gly1969Val)
c.6170G>T (p.Gly2057Val)
c.6176G>T (p.Gly2059Val)
c.4301G>T (p.Gly1434Val)
 gnomAD v4
6g.129427793C>ACA451930671LAMA2c.5907C>A (p.Gly1969=)
c.6171C>A (p.Gly2057=)
c.6177C>A (p.Gly2059=)
c.4302C>A (p.Gly1434=)
6g.129427793C>GCA451930674LAMA2c.5907C>G (p.Gly1969=)
c.6171C>G (p.Gly2057=)
c.6177C>G (p.Gly2059=)
c.4302C>G (p.Gly1434=)
6g.129427793C>TCA451930677LAMA2c.5907C>T (p.Gly1969=)
c.6171C>T (p.Gly2057=)
c.6177C>T (p.Gly2059=)
c.4302C>T (p.Gly1434=)
6g.129427794T>ACA365623950LAMA2c.5908T>A (p.Cys1970Ser)
c.6172T>A (p.Cys2058Ser)
c.6178T>A (p.Cys2060Ser)
c.4303T>A (p.Cys1435Ser)
6g.129427794T>CCA365623951LAMA2c.5908T>C (p.Cys1970Arg)
c.6172T>C (p.Cys2058Arg)
c.6178T>C (p.Cys2060Arg)
c.4303T>C (p.Cys1435Arg)
6g.129427794T>GCA365623952LAMA2c.5908T>G (p.Cys1970Gly)
c.6172T>G (p.Cys2058Gly)
c.6178T>G (p.Cys2060Gly)
c.4303T>G (p.Cys1435Gly)
 gnomAD v4
6g.129427795G>ACA365623953LAMA2c.5909G>A (p.Cys1970Tyr)
c.6173G>A (p.Cys2058Tyr)
c.6179G>A (p.Cys2060Tyr)
c.4304G>A (p.Cys1435Tyr)
6g.129427795G>CCA3994028LAMA2c.5909G>C (p.Cys1970Ser)
c.6173G>C (p.Cys2058Ser)
c.6179G>C (p.Cys2060Ser)
c.4304G>C (p.Cys1435Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.129427795G=CA1663161606LAMA2c.5909G= (p.Cys1970=)
c.6173G= (p.Cys2058=)
c.6179G= (p.Cys2060=)
c.4304G= (p.Cys1435=)
6g.129427795G>TCA365623954LAMA2c.5909G>T (p.Cys1970Phe)
c.6173G>T (p.Cys2058Phe)
c.6179G>T (p.Cys2060Phe)
c.4304G>T (p.Cys1435Phe)
 COSMIC
6g.129427796T>ACA365623955LAMA2c.5910T>A (p.Cys1970Ter)
c.6174T>A (p.Cys2058Ter)
c.6180T>A (p.Cys2060Ter)
c.4305T>A (p.Cys1435Ter)
 ClinVar dbSNP
6g.129427796T>CCA451930683LAMA2c.5910T>C (p.Cys1970=)
c.6174T>C (p.Cys2058=)
c.6180T>C (p.Cys2060=)
c.4305T>C (p.Cys1435=)
6g.129427796T>GCA365623956LAMA2c.5910T>G (p.Cys1970Trp)
c.6174T>G (p.Cys2058Trp)
c.6180T>G (p.Cys2060Trp)
c.4305T>G (p.Cys1435Trp)
6g.129427796T=CA1663161619LAMA2c.5910T= (p.Cys1970=)
c.6174T= (p.Cys2058=)
c.6180T= (p.Cys2060=)
c.4305T= (p.Cys1435=)
6g.129427797C>ACA365623957LAMA2c.5911C>A (p.Leu1971Ile)
c.6175C>A (p.Leu2059Ile)
c.6181C>A (p.Leu2061Ile)
c.4306C>A (p.Leu1436Ile)
6g.129427797C>GCA365623958LAMA2c.5911C>G (p.Leu1971Val)
c.6175C>G (p.Leu2059Val)
c.6181C>G (p.Leu2061Val)
c.4306C>G (p.Leu1436Val)
6g.129427797C>TCA365623959LAMA2c.5911C>T (p.Leu1971Phe)
c.6175C>T (p.Leu2059Phe)
c.6181C>T (p.Leu2061Phe)
c.4306C>T (p.Leu1436Phe)
6g.129427798T>ACA365623962LAMA2c.5912T>A (p.Leu1971His)
c.6176T>A (p.Leu2059His)
c.6182T>A (p.Leu2061His)
c.4307T>A (p.Leu1436His)
6g.129427798T>CCA365623960LAMA2c.5912T>C (p.Leu1971Pro)
c.6176T>C (p.Leu2059Pro)
c.6182T>C (p.Leu2061Pro)
c.4307T>C (p.Leu1436Pro)
6g.129427798T>GCA365623961LAMA2c.5912T>G (p.Leu1971Arg)
c.6176T>G (p.Leu2059Arg)
c.6182T>G (p.Leu2061Arg)
c.4307T>G (p.Leu1436Arg)
6g.129427799T>ACA451930713LAMA2c.5913T>A (p.Leu1971=)
c.6177T>A (p.Leu2059=)
c.6183T>A (p.Leu2061=)
c.4308T>A (p.Leu1436=)
6g.129427799T>CCA451930723LAMA2c.5913T>C (p.Leu1971=)
c.6177T>C (p.Leu2059=)
c.6183T>C (p.Leu2061=)
c.4308T>C (p.Leu1436=)
6g.129427799T>GCA451930724LAMA2c.5913T>G (p.Leu1971=)
c.6177T>G (p.Leu2059=)
c.6183T>G (p.Leu2061=)
c.4308T>G (p.Leu1436=)
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)

Number of alleles fetched