Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23907767_23907774delCA2499225086LAMA3c.2020_2027del (p.Ala674GlnfsTer2)
c.6847_6854del (p.Ala2283GlnfsTer2)
c.3611-1386_3611-1379del (n.3611-1386_3611-1379del)
c.6679_6686del (p.Ala2227GlnfsTer2)
c.1625_1632del
c.1852_1859del (p.Ala618GlnfsTer2)
n.1425_1432del
c.6874_6881del (p.Ala2292GlnfsTer2)
c.6865_6872del (p.Ala2289GlnfsTer2)
c.6856_6863del (p.Ala2286GlnfsTer2)
c.6742_6749del (p.Ala2248GlnfsTer2)
c.6746-1386_6746-1379del (n.6746-1386_6746-1379del)
c.4726_4733del (p.Ala1576GlnfsTer2)
c.2416_2423del (p.Ala806GlnfsTer2)
n.7115_7122del
 ClinVar dbSNP
18g.23907765A>CCA402053016LAMA3c.2018A>C (p.Asp673Ala)
c.6845A>C (p.Asp2282Ala)
c.3611-1388A>C (n.3611-1388A>C)
c.6677A>C (p.Asp2226Ala)
c.1623A>C
c.1850A>C (p.Asp617Ala)
n.1423A>C
c.6872A>C (p.Asp2291Ala)
c.6863A>C (p.Asp2288Ala)
c.6854A>C (p.Asp2285Ala)
c.6740A>C (p.Asp2247Ala)
c.6746-1388A>C (n.6746-1388A>C)
c.4724A>C (p.Asp1575Ala)
c.2414A>C (p.Asp805Ala)
n.7113A>C
18g.23907765A>GCA402053018LAMA3c.2018A>G (p.Asp673Gly)
c.6845A>G (p.Asp2282Gly)
c.3611-1388A>G (n.3611-1388A>G)
c.6677A>G (p.Asp2226Gly)
c.1623A>G
c.1850A>G (p.Asp617Gly)
n.1423A>G
c.6872A>G (p.Asp2291Gly)
c.6863A>G (p.Asp2288Gly)
c.6854A>G (p.Asp2285Gly)
c.6740A>G (p.Asp2247Gly)
c.6746-1388A>G (n.6746-1388A>G)
c.4724A>G (p.Asp1575Gly)
c.2414A>G (p.Asp805Gly)
n.7113A>G
18g.23907765A>TCA402053020LAMA3c.2018A>T (p.Asp673Val)
c.6845A>T (p.Asp2282Val)
c.3611-1388A>T (n.3611-1388A>T)
c.6677A>T (p.Asp2226Val)
c.1623A>T
c.1850A>T (p.Asp617Val)
n.1423A>T
c.6872A>T (p.Asp2291Val)
c.6863A>T (p.Asp2288Val)
c.6854A>T (p.Asp2285Val)
c.6740A>T (p.Asp2247Val)
c.6746-1388A>T (n.6746-1388A>T)
c.4724A>T (p.Asp1575Val)
c.2414A>T (p.Asp805Val)
n.7113A>T
18g.23907766T>ACA402053022LAMA3c.2019T>A (p.Asp673Glu)
c.6846T>A (p.Asp2282Glu)
c.3611-1387T>A (n.3611-1387T>A)
c.6678T>A (p.Asp2226Glu)
c.1624T>A
c.1851T>A (p.Asp617Glu)
n.1424T>A
c.6873T>A (p.Asp2291Glu)
c.6864T>A (p.Asp2288Glu)
c.6855T>A (p.Asp2285Glu)
c.6741T>A (p.Asp2247Glu)
c.6746-1387T>A (n.6746-1387T>A)
c.4725T>A (p.Asp1575Glu)
c.2415T>A (p.Asp805Glu)
n.7114T>A
18g.23907766T>CCA503337467LAMA3c.2019T>C (p.Asp673=)
c.6846T>C (p.Asp2282=)
c.3611-1387T>C (n.3611-1387T>C)
c.6678T>C (p.Asp2226=)
c.1624T>C
c.1851T>C (p.Asp617=)
n.1424T>C
c.6873T>C (p.Asp2291=)
c.6864T>C (p.Asp2288=)
c.6855T>C (p.Asp2285=)
c.6741T>C (p.Asp2247=)
c.6746-1387T>C (n.6746-1387T>C)
c.4725T>C (p.Asp1575=)
c.2415T>C (p.Asp805=)
n.7114T>C
 gnomAD v4
18g.23907766T>GCA402053023LAMA3c.2019T>G (p.Asp673Glu)
c.6846T>G (p.Asp2282Glu)
c.3611-1387T>G (n.3611-1387T>G)
c.6678T>G (p.Asp2226Glu)
c.1624T>G
c.1851T>G (p.Asp617Glu)
n.1424T>G
c.6873T>G (p.Asp2291Glu)
c.6864T>G (p.Asp2288Glu)
c.6855T>G (p.Asp2285Glu)
c.6741T>G (p.Asp2247Glu)
c.6746-1387T>G (n.6746-1387T>G)
c.4725T>G (p.Asp1575Glu)
c.2415T>G (p.Asp805Glu)
n.7114T>G
18g.23907767G>ACA402053028LAMA3c.2020G>A (p.Ala674Thr)
c.6847G>A (p.Ala2283Thr)
c.3611-1386G>A (n.3611-1386G>A)
c.6679G>A (p.Ala2227Thr)
c.1625G>A
c.1852G>A (p.Ala618Thr)
n.1425G>A
c.6874G>A (p.Ala2292Thr)
c.6865G>A (p.Ala2289Thr)
c.6856G>A (p.Ala2286Thr)
c.6742G>A (p.Ala2248Thr)
c.6746-1386G>A (n.6746-1386G>A)
c.4726G>A (p.Ala1576Thr)
c.2416G>A (p.Ala806Thr)
n.7115G>A
 dbSNP gnomAD v3 gnomAD v4
18g.23907767G>CCA402053029LAMA3c.2020G>C (p.Ala674Pro)
c.6847G>C (p.Ala2283Pro)
c.3611-1386G>C (n.3611-1386G>C)
c.6679G>C (p.Ala2227Pro)
c.1625G>C
c.1852G>C (p.Ala618Pro)
n.1425G>C
c.6874G>C (p.Ala2292Pro)
c.6865G>C (p.Ala2289Pro)
c.6856G>C (p.Ala2286Pro)
c.6742G>C (p.Ala2248Pro)
c.6746-1386G>C (n.6746-1386G>C)
c.4726G>C (p.Ala1576Pro)
c.2416G>C (p.Ala806Pro)
n.7115G>C
18g.23907767G=CA2290325973LAMA3c.2020G= (p.Ala674=)
c.6847G= (p.Ala2283=)
c.3611-1386G= (n.3611-1386G=)
c.6679G= (p.Ala2227=)
c.1625G=
c.1852G= (p.Ala618=)
n.1425G=
c.6874G= (p.Ala2292=)
c.6865G= (p.Ala2289=)
c.6856G= (p.Ala2286=)
c.6742G= (p.Ala2248=)
c.6746-1386G= (n.6746-1386G=)
c.4726G= (p.Ala1576=)
c.2416G= (p.Ala806=)
n.7115G=
18g.23907767G>TCA402053026LAMA3c.2020G>T (p.Ala674Ser)
c.6847G>T (p.Ala2283Ser)
c.3611-1386G>T (n.3611-1386G>T)
c.6679G>T (p.Ala2227Ser)
c.1625G>T
c.1852G>T (p.Ala618Ser)
n.1425G>T
c.6874G>T (p.Ala2292Ser)
c.6865G>T (p.Ala2289Ser)
c.6856G>T (p.Ala2286Ser)
c.6742G>T (p.Ala2248Ser)
c.6746-1386G>T (n.6746-1386G>T)
c.4726G>T (p.Ala1576Ser)
c.2416G>T (p.Ala806Ser)
n.7115G>T
18g.23907768C>ACA402053031LAMA3c.2021C>A (p.Ala674Asp)
c.6848C>A (p.Ala2283Asp)
c.3611-1385C>A (n.3611-1385C>A)
c.6680C>A (p.Ala2227Asp)
c.1626C>A
c.1853C>A (p.Ala618Asp)
n.1426C>A
c.6875C>A (p.Ala2292Asp)
c.6866C>A (p.Ala2289Asp)
c.6857C>A (p.Ala2286Asp)
c.6743C>A (p.Ala2248Asp)
c.6746-1385C>A (n.6746-1385C>A)
c.4727C>A (p.Ala1576Asp)
c.2417C>A (p.Ala806Asp)
n.7116C>A
 gnomAD v4
18g.23907768C>GCA402053034LAMA3c.2021C>G (p.Ala674Gly)
c.6848C>G (p.Ala2283Gly)
c.3611-1385C>G (n.3611-1385C>G)
c.6680C>G (p.Ala2227Gly)
c.1626C>G
c.1853C>G (p.Ala618Gly)
n.1426C>G
c.6875C>G (p.Ala2292Gly)
c.6866C>G (p.Ala2289Gly)
c.6857C>G (p.Ala2286Gly)
c.6743C>G (p.Ala2248Gly)
c.6746-1385C>G (n.6746-1385C>G)
c.4727C>G (p.Ala1576Gly)
c.2417C>G (p.Ala806Gly)
n.7116C>G
18g.23907768C>TCA402053035LAMA3c.2021C>T (p.Ala674Val)
c.6848C>T (p.Ala2283Val)
c.3611-1385C>T (n.3611-1385C>T)
c.6680C>T (p.Ala2227Val)
c.1626C>T
c.1853C>T (p.Ala618Val)
n.1426C>T
c.6875C>T (p.Ala2292Val)
c.6866C>T (p.Ala2289Val)
c.6857C>T (p.Ala2286Val)
c.6743C>T (p.Ala2248Val)
c.6746-1385C>T (n.6746-1385C>T)
c.4727C>T (p.Ala1576Val)
c.2417C>T (p.Ala806Val)
n.7116C>T
18g.23907769T>ACA503337468LAMA3c.2022T>A (p.Ala674=)
c.6849T>A (p.Ala2283=)
c.3611-1384T>A (n.3611-1384T>A)
c.6681T>A (p.Ala2227=)
c.1627T>A
c.1854T>A (p.Ala618=)
n.1427T>A
c.6876T>A (p.Ala2292=)
c.6867T>A (p.Ala2289=)
c.6858T>A (p.Ala2286=)
c.6744T>A (p.Ala2248=)
c.6746-1384T>A (n.6746-1384T>A)
c.4728T>A (p.Ala1576=)
c.2418T>A (p.Ala806=)
n.7117T>A
18g.23907769T>CCA503337469LAMA3c.2022T>C (p.Ala674=)
c.6849T>C (p.Ala2283=)
c.3611-1384T>C (n.3611-1384T>C)
c.6681T>C (p.Ala2227=)
c.1627T>C
c.1854T>C (p.Ala618=)
n.1427T>C
c.6876T>C (p.Ala2292=)
c.6867T>C (p.Ala2289=)
c.6858T>C (p.Ala2286=)
c.6744T>C (p.Ala2248=)
c.6746-1384T>C (n.6746-1384T>C)
c.4728T>C (p.Ala1576=)
c.2418T>C (p.Ala806=)
n.7117T>C
18g.23907769T>GCA503337470LAMA3c.2022T>G (p.Ala674=)
c.6849T>G (p.Ala2283=)
c.3611-1384T>G (n.3611-1384T>G)
c.6681T>G (p.Ala2227=)
c.1627T>G
c.1854T>G (p.Ala618=)
n.1427T>G
c.6876T>G (p.Ala2292=)
c.6867T>G (p.Ala2289=)
c.6858T>G (p.Ala2286=)
c.6744T>G (p.Ala2248=)
c.6746-1384T>G (n.6746-1384T>G)
c.4728T>G (p.Ala1576=)
c.2418T>G (p.Ala806=)
n.7117T>G
18g.23907770A>CCA402053038LAMA3c.2023A>C (p.Met675Leu)
c.6850A>C (p.Met2284Leu)
c.3611-1383A>C (n.3611-1383A>C)
c.6682A>C (p.Met2228Leu)
c.1628A>C
c.1855A>C (p.Met619Leu)
n.1428A>C
c.6877A>C (p.Met2293Leu)
c.6868A>C (p.Met2290Leu)
c.6859A>C (p.Met2287Leu)
c.6745A>C (p.Met2249Leu)
c.6746-1383A>C (n.6746-1383A>C)
c.4729A>C (p.Met1577Leu)
c.2419A>C (p.Met807Leu)
n.7118A>C
18g.23907770A>GCA402053039LAMA3c.2023A>G (p.Met675Val)
c.6850A>G (p.Met2284Val)
c.3611-1383A>G (n.3611-1383A>G)
c.6682A>G (p.Met2228Val)
c.1628A>G
c.1855A>G (p.Met619Val)
n.1428A>G
c.6877A>G (p.Met2293Val)
c.6868A>G (p.Met2290Val)
c.6859A>G (p.Met2287Val)
c.6745A>G (p.Met2249Val)
c.6746-1383A>G (n.6746-1383A>G)
c.4729A>G (p.Met1577Val)
c.2419A>G (p.Met807Val)
n.7118A>G
18g.23907770A>TCA402053040LAMA3c.2023A>T (p.Met675Leu)
c.6850A>T (p.Met2284Leu)
c.3611-1383A>T (n.3611-1383A>T)
c.6682A>T (p.Met2228Leu)
c.1628A>T
c.1855A>T (p.Met619Leu)
n.1428A>T
c.6877A>T (p.Met2293Leu)
c.6868A>T (p.Met2290Leu)
c.6859A>T (p.Met2287Leu)
c.6745A>T (p.Met2249Leu)
c.6746-1383A>T (n.6746-1383A>T)
c.4729A>T (p.Met1577Leu)
c.2419A>T (p.Met807Leu)
n.7118A>T
18g.23907771T>ACA402053045LAMA3c.2024T>A (p.Met675Lys)
c.6851T>A (p.Met2284Lys)
c.3611-1382T>A (n.3611-1382T>A)
c.6683T>A (p.Met2228Lys)
c.1629T>A
c.1856T>A (p.Met619Lys)
n.1429T>A
c.6878T>A (p.Met2293Lys)
c.6869T>A (p.Met2290Lys)
c.6860T>A (p.Met2287Lys)
c.6746T>A (p.Met2249Lys)
c.6746-1382T>A (n.6746-1382T>A)
c.4730T>A (p.Met1577Lys)
c.2420T>A (p.Met807Lys)
n.7119T>A
18g.23907771T>CCA8916506LAMA3c.2024T>C (p.Met675Thr)
c.6851T>C (p.Met2284Thr)
c.3611-1382T>C (n.3611-1382T>C)
c.6683T>C (p.Met2228Thr)
c.1629T>C
c.1856T>C (p.Met619Thr)
n.1429T>C
c.6878T>C (p.Met2293Thr)
c.6869T>C (p.Met2290Thr)
c.6860T>C (p.Met2287Thr)
c.6746T>C (p.Met2249Thr)
c.6746-1382T>C (n.6746-1382T>C)
c.4730T>C (p.Met1577Thr)
c.2420T>C (p.Met807Thr)
n.7119T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23907771T>GCA402053043LAMA3c.2024T>G (p.Met675Arg)
c.6851T>G (p.Met2284Arg)
c.3611-1382T>G (n.3611-1382T>G)
c.6683T>G (p.Met2228Arg)
c.1629T>G
c.1856T>G (p.Met619Arg)
n.1429T>G
c.6878T>G (p.Met2293Arg)
c.6869T>G (p.Met2290Arg)
c.6860T>G (p.Met2287Arg)
c.6746T>G (p.Met2249Arg)
c.6746-1382T>G (n.6746-1382T>G)
c.4730T>G (p.Met1577Arg)
c.2420T>G (p.Met807Arg)
n.7119T>G
 gnomAD v4
18g.23907771T=CA2290325974LAMA3c.2024T= (p.Met675=)
c.6851T= (p.Met2284=)
c.3611-1382T= (n.3611-1382T=)
c.6683T= (p.Met2228=)
c.1629T=
c.1856T= (p.Met619=)
n.1429T=
c.6878T= (p.Met2293=)
c.6869T= (p.Met2290=)
c.6860T= (p.Met2287=)
c.6746T= (p.Met2249=)
c.6746-1382T= (n.6746-1382T=)
c.4730T= (p.Met1577=)
c.2420T= (p.Met807=)
n.7119T=
18g.23907772G>ACA402053047LAMA3c.2025G>A (p.Met675Ile)
c.6852G>A (p.Met2284Ile)
c.3611-1381G>A (n.3611-1381G>A)
c.6684G>A (p.Met2228Ile)
c.1630G>A
c.1857G>A (p.Met619Ile)
n.1430G>A
c.6879G>A (p.Met2293Ile)
c.6870G>A (p.Met2290Ile)
c.6861G>A (p.Met2287Ile)
c.6747G>A (p.Met2249Ile)
c.6746-1381G>A (n.6746-1381G>A)
c.4731G>A (p.Met1577Ile)
c.2421G>A (p.Met807Ile)
n.7120G>A
18g.23907772G>CCA402053048LAMA3c.2025G>C (p.Met675Ile)
c.6852G>C (p.Met2284Ile)
c.3611-1381G>C (n.3611-1381G>C)
c.6684G>C (p.Met2228Ile)
c.1630G>C
c.1857G>C (p.Met619Ile)
n.1430G>C
c.6879G>C (p.Met2293Ile)
c.6870G>C (p.Met2290Ile)
c.6861G>C (p.Met2287Ile)
c.6747G>C (p.Met2249Ile)
c.6746-1381G>C (n.6746-1381G>C)
c.4731G>C (p.Met1577Ile)
c.2421G>C (p.Met807Ile)
n.7120G>C
 gnomAD v4
18g.23907772G=CA2290325975LAMA3c.2025G= (p.Met675=)
c.6852G= (p.Met2284=)
c.3611-1381G= (n.3611-1381G=)
c.6684G= (p.Met2228=)
c.1630G=
c.1857G= (p.Met619=)
n.1430G=
c.6879G= (p.Met2293=)
c.6870G= (p.Met2290=)
c.6861G= (p.Met2287=)
c.6747G= (p.Met2249=)
c.6746-1381G= (n.6746-1381G=)
c.4731G= (p.Met1577=)
c.2421G= (p.Met807=)
n.7120G=
18g.23907772G>TCA402053050LAMA3c.2025G>T (p.Met675Ile)
c.6852G>T (p.Met2284Ile)
c.3611-1381G>T (n.3611-1381G>T)
c.6684G>T (p.Met2228Ile)
c.1630G>T
c.1857G>T (p.Met619Ile)
n.1430G>T
c.6879G>T (p.Met2293Ile)
c.6870G>T (p.Met2290Ile)
c.6861G>T (p.Met2287Ile)
c.6747G>T (p.Met2249Ile)
c.6746-1381G>T (n.6746-1381G>T)
c.4731G>T (p.Met1577Ile)
c.2421G>T (p.Met807Ile)
n.7120G>T
 dbSNP gnomAD v4
18g.23907773A>CCA402053052LAMA3c.2026A>C (p.Ile676Leu)
c.6853A>C (p.Ile2285Leu)
c.3611-1380A>C (n.3611-1380A>C)
c.6685A>C (p.Ile2229Leu)
c.1631A>C
c.1858A>C (p.Ile620Leu)
n.1431A>C
c.6880A>C (p.Ile2294Leu)
c.6871A>C (p.Ile2291Leu)
c.6862A>C (p.Ile2288Leu)
c.6748A>C (p.Ile2250Leu)
c.6746-1380A>C (n.6746-1380A>C)
c.4732A>C (p.Ile1578Leu)
c.2422A>C (p.Ile808Leu)
n.7121A>C
18g.23907773A>GCA402053053LAMA3c.2026A>G (p.Ile676Val)
c.6853A>G (p.Ile2285Val)
c.3611-1380A>G (n.3611-1380A>G)
c.6685A>G (p.Ile2229Val)
c.1631A>G
c.1858A>G (p.Ile620Val)
n.1431A>G
c.6880A>G (p.Ile2294Val)
c.6871A>G (p.Ile2291Val)
c.6862A>G (p.Ile2288Val)
c.6748A>G (p.Ile2250Val)
c.6746-1380A>G (n.6746-1380A>G)
c.4732A>G (p.Ile1578Val)
c.2422A>G (p.Ile808Val)
n.7121A>G
 gnomAD v4
18g.23907773A>TCA402053056LAMA3c.2026A>T (p.Ile676Phe)
c.6853A>T (p.Ile2285Phe)
c.3611-1380A>T (n.3611-1380A>T)
c.6685A>T (p.Ile2229Phe)
c.1631A>T
c.1858A>T (p.Ile620Phe)
n.1431A>T
c.6880A>T (p.Ile2294Phe)
c.6871A>T (p.Ile2291Phe)
c.6862A>T (p.Ile2288Phe)
c.6748A>T (p.Ile2250Phe)
c.6746-1380A>T (n.6746-1380A>T)
c.4732A>T (p.Ile1578Phe)
c.2422A>T (p.Ile808Phe)
n.7121A>T
18g.23907774T>ACA402053059LAMA3c.2027T>A (p.Ile676Asn)
c.6854T>A (p.Ile2285Asn)
c.3611-1379T>A (n.3611-1379T>A)
c.6686T>A (p.Ile2229Asn)
c.1632T>A
c.1859T>A (p.Ile620Asn)
n.1432T>A
c.6881T>A (p.Ile2294Asn)
c.6872T>A (p.Ile2291Asn)
c.6863T>A (p.Ile2288Asn)
c.6749T>A (p.Ile2250Asn)
c.6746-1379T>A (n.6746-1379T>A)
c.4733T>A (p.Ile1578Asn)
c.2423T>A (p.Ile808Asn)
n.7122T>A
18g.23907774T>CCA402053061LAMA3c.2027T>C (p.Ile676Thr)
c.6854T>C (p.Ile2285Thr)
c.3611-1379T>C (n.3611-1379T>C)
c.6686T>C (p.Ile2229Thr)
c.1632T>C
c.1859T>C (p.Ile620Thr)
n.1432T>C
c.6881T>C (p.Ile2294Thr)
c.6872T>C (p.Ile2291Thr)
c.6863T>C (p.Ile2288Thr)
c.6749T>C (p.Ile2250Thr)
c.6746-1379T>C (n.6746-1379T>C)
c.4733T>C (p.Ile1578Thr)
c.2423T>C (p.Ile808Thr)
n.7122T>C
18g.23907774T>GCA402053057LAMA3c.2027T>G (p.Ile676Ser)
c.6854T>G (p.Ile2285Ser)
c.3611-1379T>G (n.3611-1379T>G)
c.6686T>G (p.Ile2229Ser)
c.1632T>G
c.1859T>G (p.Ile620Ser)
n.1432T>G
c.6881T>G (p.Ile2294Ser)
c.6872T>G (p.Ile2291Ser)
c.6863T>G (p.Ile2288Ser)
c.6749T>G (p.Ile2250Ser)
c.6746-1379T>G (n.6746-1379T>G)
c.4733T>G (p.Ile1578Ser)
c.2423T>G (p.Ile808Ser)
n.7122T>G
18g.23907775C>ACA503337471LAMA3c.2028C>A (p.Ile676=)
c.6855C>A (p.Ile2285=)
c.3611-1378C>A (n.3611-1378C>A)
c.6687C>A (p.Ile2229=)
c.1633C>A
c.1860C>A (p.Ile620=)
n.1433C>A
c.6882C>A (p.Ile2294=)
c.6873C>A (p.Ile2291=)
c.6864C>A (p.Ile2288=)
c.6750C>A (p.Ile2250=)
c.6746-1378C>A (n.6746-1378C>A)
c.4734C>A (p.Ile1578=)
c.2424C>A (p.Ile808=)
n.7123C>A
18g.23907775C>GCA402053063LAMA3c.2028C>G (p.Ile676Met)
c.6855C>G (p.Ile2285Met)
c.3611-1378C>G (n.3611-1378C>G)
c.6687C>G (p.Ile2229Met)
c.1633C>G
c.1860C>G (p.Ile620Met)
n.1433C>G
c.6882C>G (p.Ile2294Met)
c.6873C>G (p.Ile2291Met)
c.6864C>G (p.Ile2288Met)
c.6750C>G (p.Ile2250Met)
c.6746-1378C>G (n.6746-1378C>G)
c.4734C>G (p.Ile1578Met)
c.2424C>G (p.Ile808Met)
n.7123C>G
18g.23907775C>TCA503337472LAMA3c.2028C>T (p.Ile676=)
c.6855C>T (p.Ile2285=)
c.3611-1378C>T (n.3611-1378C>T)
c.6687C>T (p.Ile2229=)
c.1633C>T
c.1860C>T (p.Ile620=)
n.1433C>T
c.6882C>T (p.Ile2294=)
c.6873C>T (p.Ile2291=)
c.6864C>T (p.Ile2288=)
c.6750C>T (p.Ile2250=)
c.6746-1378C>T (n.6746-1378C>T)
c.4734C>T (p.Ile1578=)
c.2424C>T (p.Ile808=)
n.7123C>T
18g.23907776A=CA2290325976LAMA3c.2029A= (p.Ser677=)
c.6856A= (p.Ser2286=)
c.3611-1377A= (n.3611-1377A=)
c.6688A= (p.Ser2230=)
c.1634A=
c.1861A= (p.Ser621=)
n.1434A=
c.6883A= (p.Ser2295=)
c.6874A= (p.Ser2292=)
c.6865A= (p.Ser2289=)
c.6751A= (p.Ser2251=)
c.6746-1377A= (n.6746-1377A=)
c.4735A= (p.Ser1579=)
c.2425A= (p.Ser809=)
n.7124A=
18g.23907776A>CCA402053065LAMA3c.2029A>C (p.Ser677Arg)
c.6856A>C (p.Ser2286Arg)
c.3611-1377A>C (n.3611-1377A>C)
c.6688A>C (p.Ser2230Arg)
c.1634A>C
c.1861A>C (p.Ser621Arg)
n.1434A>C
c.6883A>C (p.Ser2295Arg)
c.6874A>C (p.Ser2292Arg)
c.6865A>C (p.Ser2289Arg)
c.6751A>C (p.Ser2251Arg)
c.6746-1377A>C (n.6746-1377A>C)
c.4735A>C (p.Ser1579Arg)
c.2425A>C (p.Ser809Arg)
n.7124A>C
 dbSNP gnomAD v3 gnomAD v4
18g.23907776A>GCA402053069LAMA3c.2029A>G (p.Ser677Gly)
c.6856A>G (p.Ser2286Gly)
c.3611-1377A>G (n.3611-1377A>G)
c.6688A>G (p.Ser2230Gly)
c.1634A>G
c.1861A>G (p.Ser621Gly)
n.1434A>G
c.6883A>G (p.Ser2295Gly)
c.6874A>G (p.Ser2292Gly)
c.6865A>G (p.Ser2289Gly)
c.6751A>G (p.Ser2251Gly)
c.6746-1377A>G (n.6746-1377A>G)
c.4735A>G (p.Ser1579Gly)
c.2425A>G (p.Ser809Gly)
n.7124A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.23907776A>TCA402053067LAMA3c.2029A>T (p.Ser677Cys)
c.6856A>T (p.Ser2286Cys)
c.3611-1377A>T (n.3611-1377A>T)
c.6688A>T (p.Ser2230Cys)
c.1634A>T
c.1861A>T (p.Ser621Cys)
n.1434A>T
c.6883A>T (p.Ser2295Cys)
c.6874A>T (p.Ser2292Cys)
c.6865A>T (p.Ser2289Cys)
c.6751A>T (p.Ser2251Cys)
c.6746-1377A>T (n.6746-1377A>T)
c.4735A>T (p.Ser1579Cys)
c.2425A>T (p.Ser809Cys)
n.7124A>T
18g.23907777G>ACA402053071LAMA3c.2030G>A (p.Ser677Asn)
c.6857G>A (p.Ser2286Asn)
c.3611-1376G>A (n.3611-1376G>A)
c.6689G>A (p.Ser2230Asn)
c.1635G>A
c.1862G>A (p.Ser621Asn)
n.1435G>A
c.6884G>A (p.Ser2295Asn)
c.6875G>A (p.Ser2292Asn)
c.6866G>A (p.Ser2289Asn)
c.6752G>A (p.Ser2251Asn)
c.6746-1376G>A (n.6746-1376G>A)
c.4736G>A (p.Ser1579Asn)
c.2426G>A (p.Ser809Asn)
n.7125G>A
 dbSNP gnomAD v2 gnomAD v4
18g.23907777G>CCA297104761LAMA3c.2030G>C (p.Ser677Thr)
c.6857G>C (p.Ser2286Thr)
c.3611-1376G>C (n.3611-1376G>C)
c.6689G>C (p.Ser2230Thr)
c.1635G>C
c.1862G>C (p.Ser621Thr)
n.1435G>C
c.6884G>C (p.Ser2295Thr)
c.6875G>C (p.Ser2292Thr)
c.6866G>C (p.Ser2289Thr)
c.6752G>C (p.Ser2251Thr)
c.6746-1376G>C (n.6746-1376G>C)
c.4736G>C (p.Ser1579Thr)
c.2426G>C (p.Ser809Thr)
n.7125G>C
 dbSNP gnomAD v4
18g.23907777G=CA2290325977LAMA3c.2030G= (p.Ser677=)
c.6857G= (p.Ser2286=)
c.3611-1376G= (n.3611-1376G=)
c.6689G= (p.Ser2230=)
c.1635G=
c.1862G= (p.Ser621=)
n.1435G=
c.6884G= (p.Ser2295=)
c.6875G= (p.Ser2292=)
c.6866G= (p.Ser2289=)
c.6752G= (p.Ser2251=)
c.6746-1376G= (n.6746-1376G=)
c.4736G= (p.Ser1579=)
c.2426G= (p.Ser809=)
n.7125G=
18g.23907777G>TCA402053072LAMA3c.2030G>T (p.Ser677Ile)
c.6857G>T (p.Ser2286Ile)
c.3611-1376G>T (n.3611-1376G>T)
c.6689G>T (p.Ser2230Ile)
c.1635G>T
c.1862G>T (p.Ser621Ile)
n.1435G>T
c.6884G>T (p.Ser2295Ile)
c.6875G>T (p.Ser2292Ile)
c.6866G>T (p.Ser2289Ile)
c.6752G>T (p.Ser2251Ile)
c.6746-1376G>T (n.6746-1376G>T)
c.4736G>T (p.Ser1579Ile)
c.2426G>T (p.Ser809Ile)
n.7125G>T
18g.23907778T>ACA402053074LAMA3c.2031T>A (p.Ser677Arg)
c.6858T>A (p.Ser2286Arg)
c.3611-1375T>A (n.3611-1375T>A)
c.6690T>A (p.Ser2230Arg)
c.1636T>A
c.1863T>A (p.Ser621Arg)
n.1436T>A
c.6885T>A (p.Ser2295Arg)
c.6876T>A (p.Ser2292Arg)
c.6867T>A (p.Ser2289Arg)
c.6753T>A (p.Ser2251Arg)
c.6746-1375T>A (n.6746-1375T>A)
c.4737T>A (p.Ser1579Arg)
c.2427T>A (p.Ser809Arg)
n.7126T>A
18g.23907778T>CCA503337474LAMA3c.2031T>C (p.Ser677=)
c.6858T>C (p.Ser2286=)
c.3611-1375T>C (n.3611-1375T>C)
c.6690T>C (p.Ser2230=)
c.1636T>C
c.1863T>C (p.Ser621=)
n.1436T>C
c.6885T>C (p.Ser2295=)
c.6876T>C (p.Ser2292=)
c.6867T>C (p.Ser2289=)
c.6753T>C (p.Ser2251=)
c.6746-1375T>C (n.6746-1375T>C)
c.4737T>C (p.Ser1579=)
c.2427T>C (p.Ser809=)
n.7126T>C
 ClinVar dbSNP gnomAD v4
18g.23907778T>GCA402053075LAMA3c.2031T>G (p.Ser677Arg)
c.6858T>G (p.Ser2286Arg)
c.3611-1375T>G (n.3611-1375T>G)
c.6690T>G (p.Ser2230Arg)
c.1636T>G
c.1863T>G (p.Ser621Arg)
n.1436T>G
c.6885T>G (p.Ser2295Arg)
c.6876T>G (p.Ser2292Arg)
c.6867T>G (p.Ser2289Arg)
c.6753T>G (p.Ser2251Arg)
c.6746-1375T>G (n.6746-1375T>G)
c.4737T>G (p.Ser1579Arg)
c.2427T>G (p.Ser809Arg)
n.7126T>G
18g.23907779A>CCA402053078LAMA3c.2032A>C (p.Ser678Arg)
c.6859A>C (p.Ser2287Arg)
c.3611-1374A>C (n.3611-1374A>C)
c.6691A>C (p.Ser2231Arg)
c.1637A>C
c.1864A>C (p.Ser622Arg)
n.1437A>C
c.6886A>C (p.Ser2296Arg)
c.6877A>C (p.Ser2293Arg)
c.6868A>C (p.Ser2290Arg)
c.6754A>C (p.Ser2252Arg)
c.6746-1374A>C (n.6746-1374A>C)
c.4738A>C (p.Ser1580Arg)
c.2428A>C (p.Ser810Arg)
n.7127A>C
18g.23907779A>GCA402053080LAMA3c.2032A>G (p.Ser678Gly)
c.6859A>G (p.Ser2287Gly)
c.3611-1374A>G (n.3611-1374A>G)
c.6691A>G (p.Ser2231Gly)
c.1637A>G
c.1864A>G (p.Ser622Gly)
n.1437A>G
c.6886A>G (p.Ser2296Gly)
c.6877A>G (p.Ser2293Gly)
c.6868A>G (p.Ser2290Gly)
c.6754A>G (p.Ser2252Gly)
c.6746-1374A>G (n.6746-1374A>G)
c.4738A>G (p.Ser1580Gly)
c.2428A>G (p.Ser810Gly)
n.7127A>G
18g.23907779A>TCA402053081LAMA3c.2032A>T (p.Ser678Cys)
c.6859A>T (p.Ser2287Cys)
c.3611-1374A>T (n.3611-1374A>T)
c.6691A>T (p.Ser2231Cys)
c.1637A>T
c.1864A>T (p.Ser622Cys)
n.1437A>T
c.6886A>T (p.Ser2296Cys)
c.6877A>T (p.Ser2293Cys)
c.6868A>T (p.Ser2290Cys)
c.6754A>T (p.Ser2252Cys)
c.6746-1374A>T (n.6746-1374A>T)
c.4738A>T (p.Ser1580Cys)
c.2428A>T (p.Ser810Cys)
n.7127A>T
18g.23907780G>ACA8916507LAMA3c.2033G>A (p.Ser678Asn)
c.6860G>A (p.Ser2287Asn)
c.3611-1373G>A (n.3611-1373G>A)
c.6692G>A (p.Ser2231Asn)
c.1638G>A
c.1865G>A (p.Ser622Asn)
n.1438G>A
c.6887G>A (p.Ser2296Asn)
c.6878G>A (p.Ser2293Asn)
c.6869G>A (p.Ser2290Asn)
c.6755G>A (p.Ser2252Asn)
c.6746-1373G>A (n.6746-1373G>A)
c.4739G>A (p.Ser1580Asn)
c.2429G>A (p.Ser810Asn)
n.7128G>A
 dbSNP ExAC gnomAD v2
18g.23907780G>CCA402053084LAMA3c.2033G>C (p.Ser678Thr)
c.6860G>C (p.Ser2287Thr)
c.3611-1373G>C (n.3611-1373G>C)
c.6692G>C (p.Ser2231Thr)
c.1638G>C
c.1865G>C (p.Ser622Thr)
n.1438G>C
c.6887G>C (p.Ser2296Thr)
c.6878G>C (p.Ser2293Thr)
c.6869G>C (p.Ser2290Thr)
c.6755G>C (p.Ser2252Thr)
c.6746-1373G>C (n.6746-1373G>C)
c.4739G>C (p.Ser1580Thr)
c.2429G>C (p.Ser810Thr)
n.7128G>C
18g.23907780G=CA2290325978LAMA3c.2033G= (p.Ser678=)
c.6860G= (p.Ser2287=)
c.3611-1373G= (n.3611-1373G=)
c.6692G= (p.Ser2231=)
c.1638G=
c.1865G= (p.Ser622=)
n.1438G=
c.6887G= (p.Ser2296=)
c.6878G= (p.Ser2293=)
c.6869G= (p.Ser2290=)
c.6755G= (p.Ser2252=)
c.6746-1373G= (n.6746-1373G=)
c.4739G= (p.Ser1580=)
c.2429G= (p.Ser810=)
n.7128G=
18g.23907780G>TCA402053086LAMA3c.2033G>T (p.Ser678Ile)
c.6860G>T (p.Ser2287Ile)
c.3611-1373G>T (n.3611-1373G>T)
c.6692G>T (p.Ser2231Ile)
c.1638G>T
c.1865G>T (p.Ser622Ile)
n.1438G>T
c.6887G>T (p.Ser2296Ile)
c.6878G>T (p.Ser2293Ile)
c.6869G>T (p.Ser2290Ile)
c.6755G>T (p.Ser2252Ile)
c.6746-1373G>T (n.6746-1373G>T)
c.4739G>T (p.Ser1580Ile)
c.2429G>T (p.Ser810Ile)
n.7128G>T
18g.23907781T>ACA402053088LAMA3c.2034T>A (p.Ser678Arg)
c.6861T>A (p.Ser2287Arg)
c.3611-1372T>A (n.3611-1372T>A)
c.6693T>A (p.Ser2231Arg)
c.1639T>A
c.1866T>A (p.Ser622Arg)
n.1439T>A
c.6888T>A (p.Ser2296Arg)
c.6879T>A (p.Ser2293Arg)
c.6870T>A (p.Ser2290Arg)
c.6756T>A (p.Ser2252Arg)
c.6746-1372T>A (n.6746-1372T>A)
c.4740T>A (p.Ser1580Arg)
c.2430T>A (p.Ser810Arg)
n.7129T>A
18g.23907781T>CCA503337475LAMA3c.2034T>C (p.Ser678=)
c.6861T>C (p.Ser2287=)
c.3611-1372T>C (n.3611-1372T>C)
c.6693T>C (p.Ser2231=)
c.1639T>C
c.1866T>C (p.Ser622=)
n.1439T>C
c.6888T>C (p.Ser2296=)
c.6879T>C (p.Ser2293=)
c.6870T>C (p.Ser2290=)
c.6756T>C (p.Ser2252=)
c.6746-1372T>C (n.6746-1372T>C)
c.4740T>C (p.Ser1580=)
c.2430T>C (p.Ser810=)
n.7129T>C
 dbSNP gnomAD v2 gnomAD v4
18g.23907781T>GCA402053090LAMA3c.2034T>G (p.Ser678Arg)
c.6861T>G (p.Ser2287Arg)
c.3611-1372T>G (n.3611-1372T>G)
c.6693T>G (p.Ser2231Arg)
c.1639T>G
c.1866T>G (p.Ser622Arg)
n.1439T>G
c.6888T>G (p.Ser2296Arg)
c.6879T>G (p.Ser2293Arg)
c.6870T>G (p.Ser2290Arg)
c.6756T>G (p.Ser2252Arg)
c.6746-1372T>G (n.6746-1372T>G)
c.4740T>G (p.Ser1580Arg)
c.2430T>G (p.Ser810Arg)
n.7129T>G
18g.23907781T=CA2290325979LAMA3c.2034T= (p.Ser678=)
c.6861T= (p.Ser2287=)
c.3611-1372T= (n.3611-1372T=)
c.6693T= (p.Ser2231=)
c.1639T=
c.1866T= (p.Ser622=)
n.1439T=
c.6888T= (p.Ser2296=)
c.6879T= (p.Ser2293=)
c.6870T= (p.Ser2290=)
c.6756T= (p.Ser2252=)
c.6746-1372T= (n.6746-1372T=)
c.4740T= (p.Ser1580=)
c.2430T= (p.Ser810=)
n.7129T=
18g.23907782G>ACA402053092LAMA3c.2035G>A (p.Ala679Thr)
c.6862G>A (p.Ala2288Thr)
c.3611-1371G>A (n.3611-1371G>A)
c.6694G>A (p.Ala2232Thr)
c.1640G>A
c.1867G>A (p.Ala623Thr)
n.1440G>A
c.6889G>A (p.Ala2297Thr)
c.6880G>A (p.Ala2294Thr)
c.6871G>A (p.Ala2291Thr)
c.6757G>A (p.Ala2253Thr)
c.6746-1371G>A (n.6746-1371G>A)
c.4741G>A (p.Ala1581Thr)
c.2431G>A (p.Ala811Thr)
n.7130G>A
18g.23907782G>CCA402053093LAMA3c.2035G>C (p.Ala679Pro)
c.6862G>C (p.Ala2288Pro)
c.3611-1371G>C (n.3611-1371G>C)
c.6694G>C (p.Ala2232Pro)
c.1640G>C
c.1867G>C (p.Ala623Pro)
n.1440G>C
c.6889G>C (p.Ala2297Pro)
c.6880G>C (p.Ala2294Pro)
c.6871G>C (p.Ala2291Pro)
c.6757G>C (p.Ala2253Pro)
c.6746-1371G>C (n.6746-1371G>C)
c.4741G>C (p.Ala1581Pro)
c.2431G>C (p.Ala811Pro)
n.7130G>C
18g.23907782G>TCA402053096LAMA3c.2035G>T (p.Ala679Ser)
c.6862G>T (p.Ala2288Ser)
c.3611-1371G>T (n.3611-1371G>T)
c.6694G>T (p.Ala2232Ser)
c.1640G>T
c.1867G>T (p.Ala623Ser)
n.1440G>T
c.6889G>T (p.Ala2297Ser)
c.6880G>T (p.Ala2294Ser)
c.6871G>T (p.Ala2291Ser)
c.6757G>T (p.Ala2253Ser)
c.6746-1371G>T (n.6746-1371G>T)
c.4741G>T (p.Ala1581Ser)
c.2431G>T (p.Ala811Ser)
n.7130G>T
18g.23907783C>ACA402053098LAMA3c.2036C>A (p.Ala679Glu)
c.6863C>A (p.Ala2288Glu)
c.3611-1370C>A (n.3611-1370C>A)
c.6695C>A (p.Ala2232Glu)
c.1641C>A
c.1868C>A (p.Ala623Glu)
n.1441C>A
c.6890C>A (p.Ala2297Glu)
c.6881C>A (p.Ala2294Glu)
c.6872C>A (p.Ala2291Glu)
c.6758C>A (p.Ala2253Glu)
c.6746-1370C>A (n.6746-1370C>A)
c.4742C>A (p.Ala1581Glu)
c.2432C>A (p.Ala811Glu)
n.7131C>A
18g.23907783C=CA2290325980LAMA3c.2036C= (p.Ala679=)
c.6863C= (p.Ala2288=)
c.3611-1370C= (n.3611-1370C=)
c.6695C= (p.Ala2232=)
c.1641C=
c.1868C= (p.Ala623=)
n.1441C=
c.6890C= (p.Ala2297=)
c.6881C= (p.Ala2294=)
c.6872C= (p.Ala2291=)
c.6758C= (p.Ala2253=)
c.6746-1370C= (n.6746-1370C=)
c.4742C= (p.Ala1581=)
c.2432C= (p.Ala811=)
n.7131C=
18g.23907783C>GCA402053100LAMA3c.2036C>G (p.Ala679Gly)
c.6863C>G (p.Ala2288Gly)
c.3611-1370C>G (n.3611-1370C>G)
c.6695C>G (p.Ala2232Gly)
c.1641C>G
c.1868C>G (p.Ala623Gly)
n.1441C>G
c.6890C>G (p.Ala2297Gly)
c.6881C>G (p.Ala2294Gly)
c.6872C>G (p.Ala2291Gly)
c.6758C>G (p.Ala2253Gly)
c.6746-1370C>G (n.6746-1370C>G)
c.4742C>G (p.Ala1581Gly)
c.2432C>G (p.Ala811Gly)
n.7131C>G
18g.23907783C>TCA8916508LAMA3c.2036C>T (p.Ala679Val)
c.6863C>T (p.Ala2288Val)
c.3611-1370C>T (n.3611-1370C>T)
c.6695C>T (p.Ala2232Val)
c.1641C>T
c.1868C>T (p.Ala623Val)
n.1441C>T
c.6890C>T (p.Ala2297Val)
c.6881C>T (p.Ala2294Val)
c.6872C>T (p.Ala2291Val)
c.6758C>T (p.Ala2253Val)
c.6746-1370C>T (n.6746-1370C>T)
c.4742C>T (p.Ala1581Val)
c.2432C>T (p.Ala811Val)
n.7131C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23907784A=CA2290325981LAMA3c.2037A= (p.Ala679=)
c.6864A= (p.Ala2288=)
c.3611-1369A= (n.3611-1369A=)
c.6696A= (p.Ala2232=)
c.1642A=
c.1869A= (p.Ala623=)
n.1442A=
c.6891A= (p.Ala2297=)
c.6882A= (p.Ala2294=)
c.6873A= (p.Ala2291=)
c.6759A= (p.Ala2253=)
c.6746-1369A= (n.6746-1369A=)
c.4743A= (p.Ala1581=)
c.2433A= (p.Ala811=)
n.7132A=
18g.23907784A>CCA503337476LAMA3c.2037A>C (p.Ala679=)
c.6864A>C (p.Ala2288=)
c.3611-1369A>C (n.3611-1369A>C)
c.6696A>C (p.Ala2232=)
c.1642A>C
c.1869A>C (p.Ala623=)
n.1442A>C
c.6891A>C (p.Ala2297=)
c.6882A>C (p.Ala2294=)
c.6873A>C (p.Ala2291=)
c.6759A>C (p.Ala2253=)
c.6746-1369A>C (n.6746-1369A>C)
c.4743A>C (p.Ala1581=)
c.2433A>C (p.Ala811=)
n.7132A>C
18g.23907784A>GCA503337478LAMA3c.2037A>G (p.Ala679=)
c.6864A>G (p.Ala2288=)
c.3611-1369A>G (n.3611-1369A>G)
c.6696A>G (p.Ala2232=)
c.1642A>G
c.1869A>G (p.Ala623=)
n.1442A>G
c.6891A>G (p.Ala2297=)
c.6882A>G (p.Ala2294=)
c.6873A>G (p.Ala2291=)
c.6759A>G (p.Ala2253=)
c.6746-1369A>G (n.6746-1369A>G)
c.4743A>G (p.Ala1581=)
c.2433A>G (p.Ala811=)
n.7132A>G
 dbSNP
18g.23907784A>TCA503337477LAMA3c.2037A>T (p.Ala679=)
c.6864A>T (p.Ala2288=)
c.3611-1369A>T (n.3611-1369A>T)
c.6696A>T (p.Ala2232=)
c.1642A>T
c.1869A>T (p.Ala623=)
n.1442A>T
c.6891A>T (p.Ala2297=)
c.6882A>T (p.Ala2294=)
c.6873A>T (p.Ala2291=)
c.6759A>T (p.Ala2253=)
c.6746-1369A>T (n.6746-1369A>T)
c.4743A>T (p.Ala1581=)
c.2433A>T (p.Ala811=)
n.7132A>T
18g.23907785A>CCA402053103LAMA3c.2038A>C (p.Lys680Gln)
c.6865A>C (p.Lys2289Gln)
c.3611-1368A>C (n.3611-1368A>C)
c.6697A>C (p.Lys2233Gln)
c.1643A>C
c.1870A>C (p.Lys624Gln)
n.1443A>C
c.6892A>C (p.Lys2298Gln)
c.6883A>C (p.Lys2295Gln)
c.6874A>C (p.Lys2292Gln)
c.6760A>C (p.Lys2254Gln)
c.6746-1368A>C (n.6746-1368A>C)
c.4744A>C (p.Lys1582Gln)
c.2434A>C (p.Lys812Gln)
n.7133A>C
18g.23907785A>GCA402053104LAMA3c.2038A>G (p.Lys680Glu)
c.6865A>G (p.Lys2289Glu)
c.3611-1368A>G (n.3611-1368A>G)
c.6697A>G (p.Lys2233Glu)
c.1643A>G
c.1870A>G (p.Lys624Glu)
n.1443A>G
c.6892A>G (p.Lys2298Glu)
c.6883A>G (p.Lys2295Glu)
c.6874A>G (p.Lys2292Glu)
c.6760A>G (p.Lys2254Glu)
c.6746-1368A>G (n.6746-1368A>G)
c.4744A>G (p.Lys1582Glu)
c.2434A>G (p.Lys812Glu)
n.7133A>G
18g.23907785A>TCA402053106LAMA3c.2038A>T (p.Lys680Ter)
c.6865A>T (p.Lys2289Ter)
c.3611-1368A>T (n.3611-1368A>T)
c.6697A>T (p.Lys2233Ter)
c.1643A>T
c.1870A>T (p.Lys624Ter)
n.1443A>T
c.6892A>T (p.Lys2298Ter)
c.6883A>T (p.Lys2295Ter)
c.6874A>T (p.Lys2292Ter)
c.6760A>T (p.Lys2254Ter)
c.6746-1368A>T (n.6746-1368A>T)
c.4744A>T (p.Lys1582Ter)
c.2434A>T (p.Lys812Ter)
n.7133A>T
18g.23907786A>CCA402053109LAMA3c.2039A>C (p.Lys680Thr)
c.6866A>C (p.Lys2289Thr)
c.3611-1367A>C (n.3611-1367A>C)
c.6698A>C (p.Lys2233Thr)
c.1644A>C
c.1871A>C (p.Lys624Thr)
n.1444A>C
c.6893A>C (p.Lys2298Thr)
c.6884A>C (p.Lys2295Thr)
c.6875A>C (p.Lys2292Thr)
c.6761A>C (p.Lys2254Thr)
c.6746-1367A>C (n.6746-1367A>C)
c.4745A>C (p.Lys1582Thr)
c.2435A>C (p.Lys812Thr)
n.7134A>C
18g.23907786A>GCA402053110LAMA3c.2039A>G (p.Lys680Arg)
c.6866A>G (p.Lys2289Arg)
c.3611-1367A>G (n.3611-1367A>G)
c.6698A>G (p.Lys2233Arg)
c.1644A>G
c.1871A>G (p.Lys624Arg)
n.1444A>G
c.6893A>G (p.Lys2298Arg)
c.6884A>G (p.Lys2295Arg)
c.6875A>G (p.Lys2292Arg)
c.6761A>G (p.Lys2254Arg)
c.6746-1367A>G (n.6746-1367A>G)
c.4745A>G (p.Lys1582Arg)
c.2435A>G (p.Lys812Arg)
n.7134A>G
18g.23907786A>TCA402053111LAMA3c.2039A>T (p.Lys680Met)
c.6866A>T (p.Lys2289Met)
c.3611-1367A>T (n.3611-1367A>T)
c.6698A>T (p.Lys2233Met)
c.1644A>T
c.1871A>T (p.Lys624Met)
n.1444A>T
c.6893A>T (p.Lys2298Met)
c.6884A>T (p.Lys2295Met)
c.6875A>T (p.Lys2292Met)
c.6761A>T (p.Lys2254Met)
c.6746-1367A>T (n.6746-1367A>T)
c.4745A>T (p.Lys1582Met)
c.2435A>T (p.Lys812Met)
n.7134A>T
18g.23907787G>ACA8916509LAMA3c.2040G>A (p.Lys680=)
c.6867G>A (p.Lys2289=)
c.3611-1366G>A (n.3611-1366G>A)
c.6699G>A (p.Lys2233=)
c.1645G>A
c.1872G>A (p.Lys624=)
n.1445G>A
c.6894G>A (p.Lys2298=)
c.6885G>A (p.Lys2295=)
c.6876G>A (p.Lys2292=)
c.6762G>A (p.Lys2254=)
c.6746-1366G>A (n.6746-1366G>A)
c.4746G>A (p.Lys1582=)
c.2436G>A (p.Lys812=)
n.7135G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23907787G>CCA402053114LAMA3c.2040G>C (p.Lys680Asn)
c.6867G>C (p.Lys2289Asn)
c.3611-1366G>C (n.3611-1366G>C)
c.6699G>C (p.Lys2233Asn)
c.1645G>C
c.1872G>C (p.Lys624Asn)
n.1445G>C
c.6894G>C (p.Lys2298Asn)
c.6885G>C (p.Lys2295Asn)
c.6876G>C (p.Lys2292Asn)
c.6762G>C (p.Lys2254Asn)
c.6746-1366G>C (n.6746-1366G>C)
c.4746G>C (p.Lys1582Asn)
c.2436G>C (p.Lys812Asn)
n.7135G>C
18g.23907787G=CA2290325982LAMA3c.2040G= (p.Lys680=)
c.6867G= (p.Lys2289=)
c.3611-1366G= (n.3611-1366G=)
c.6699G= (p.Lys2233=)
c.1645G=
c.1872G= (p.Lys624=)
n.1445G=
c.6894G= (p.Lys2298=)
c.6885G= (p.Lys2295=)
c.6876G= (p.Lys2292=)
c.6762G= (p.Lys2254=)
c.6746-1366G= (n.6746-1366G=)
c.4746G= (p.Lys1582=)
c.2436G= (p.Lys812=)
n.7135G=
18g.23907787G>TCA402053116LAMA3c.2040G>T (p.Lys680Asn)
c.6867G>T (p.Lys2289Asn)
c.3611-1366G>T (n.3611-1366G>T)
c.6699G>T (p.Lys2233Asn)
c.1645G>T
c.1872G>T (p.Lys624Asn)
n.1445G>T
c.6894G>T (p.Lys2298Asn)
c.6885G>T (p.Lys2295Asn)
c.6876G>T (p.Lys2292Asn)
c.6762G>T (p.Lys2254Asn)
c.6746-1366G>T (n.6746-1366G>T)
c.4746G>T (p.Lys1582Asn)
c.2436G>T (p.Lys812Asn)
n.7135G>T
18g.23907788A>CCA402053122LAMA3c.2041A>C (p.Ser681Arg)
c.6868A>C (p.Ser2290Arg)
c.3611-1365A>C (n.3611-1365A>C)
c.6700A>C (p.Ser2234Arg)
c.1646A>C
c.1873A>C (p.Ser625Arg)
n.1446A>C
c.6895A>C (p.Ser2299Arg)
c.6886A>C (p.Ser2296Arg)
c.6877A>C (p.Ser2293Arg)
c.6763A>C (p.Ser2255Arg)
c.6746-1365A>C (n.6746-1365A>C)
c.4747A>C (p.Ser1583Arg)
c.2437A>C (p.Ser813Arg)
n.7136A>C
18g.23907788A>GCA402053120LAMA3c.2041A>G (p.Ser681Gly)
c.6868A>G (p.Ser2290Gly)
c.3611-1365A>G (n.3611-1365A>G)
c.6700A>G (p.Ser2234Gly)
c.1646A>G
c.1873A>G (p.Ser625Gly)
n.1446A>G
c.6895A>G (p.Ser2299Gly)
c.6886A>G (p.Ser2296Gly)
c.6877A>G (p.Ser2293Gly)
c.6763A>G (p.Ser2255Gly)
c.6746-1365A>G (n.6746-1365A>G)
c.4747A>G (p.Ser1583Gly)
c.2437A>G (p.Ser813Gly)
n.7136A>G
 gnomAD v4
18g.23907788A>TCA402053118LAMA3c.2041A>T (p.Ser681Cys)
c.6868A>T (p.Ser2290Cys)
c.3611-1365A>T (n.3611-1365A>T)
c.6700A>T (p.Ser2234Cys)
c.1646A>T
c.1873A>T (p.Ser625Cys)
n.1446A>T
c.6895A>T (p.Ser2299Cys)
c.6886A>T (p.Ser2296Cys)
c.6877A>T (p.Ser2293Cys)
c.6763A>T (p.Ser2255Cys)
c.6746-1365A>T (n.6746-1365A>T)
c.4747A>T (p.Ser1583Cys)
c.2437A>T (p.Ser813Cys)
n.7136A>T
18g.23907789G>ACA402053124LAMA3c.2042G>A (p.Ser681Asn)
c.6869G>A (p.Ser2290Asn)
c.3611-1364G>A (n.3611-1364G>A)
c.6701G>A (p.Ser2234Asn)
c.1647G>A
c.1874G>A (p.Ser625Asn)
n.1447G>A
c.6896G>A (p.Ser2299Asn)
c.6887G>A (p.Ser2296Asn)
c.6878G>A (p.Ser2293Asn)
c.6764G>A (p.Ser2255Asn)
c.6746-1364G>A (n.6746-1364G>A)
c.4748G>A (p.Ser1583Asn)
c.2438G>A (p.Ser813Asn)
n.7137G>A
18g.23907789G>CCA402053126LAMA3c.2042G>C (p.Ser681Thr)
c.6869G>C (p.Ser2290Thr)
c.3611-1364G>C (n.3611-1364G>C)
c.6701G>C (p.Ser2234Thr)
c.1647G>C
c.1874G>C (p.Ser625Thr)
n.1447G>C
c.6896G>C (p.Ser2299Thr)
c.6887G>C (p.Ser2296Thr)
c.6878G>C (p.Ser2293Thr)
c.6764G>C (p.Ser2255Thr)
c.6746-1364G>C (n.6746-1364G>C)
c.4748G>C (p.Ser1583Thr)
c.2438G>C (p.Ser813Thr)
n.7137G>C
 gnomAD v4
18g.23907789G=CA2290325983LAMA3c.2042G= (p.Ser681=)
c.6869G= (p.Ser2290=)
c.3611-1364G= (n.3611-1364G=)
c.6701G= (p.Ser2234=)
c.1647G=
c.1874G= (p.Ser625=)
n.1447G=
c.6896G= (p.Ser2299=)
c.6887G= (p.Ser2296=)
c.6878G= (p.Ser2293=)
c.6764G= (p.Ser2255=)
c.6746-1364G= (n.6746-1364G=)
c.4748G= (p.Ser1583=)
c.2438G= (p.Ser813=)
n.7137G=
18g.23907789G>TCA402053128LAMA3c.2042G>T (p.Ser681Ile)
c.6869G>T (p.Ser2290Ile)
c.3611-1364G>T (n.3611-1364G>T)
c.6701G>T (p.Ser2234Ile)
c.1647G>T
c.1874G>T (p.Ser625Ile)
n.1447G>T
c.6896G>T (p.Ser2299Ile)
c.6887G>T (p.Ser2296Ile)
c.6878G>T (p.Ser2293Ile)
c.6764G>T (p.Ser2255Ile)
c.6746-1364G>T (n.6746-1364G>T)
c.4748G>T (p.Ser1583Ile)
c.2438G>T (p.Ser813Ile)
n.7137G>T
 dbSNP
18g.23907790C>ACA402053130LAMA3c.2043C>A (p.Ser681Arg)
c.6870C>A (p.Ser2290Arg)
c.3611-1363C>A (n.3611-1363C>A)
c.6702C>A (p.Ser2234Arg)
c.1648C>A
c.1875C>A (p.Ser625Arg)
n.1448C>A
c.6897C>A (p.Ser2299Arg)
c.6888C>A (p.Ser2296Arg)
c.6879C>A (p.Ser2293Arg)
c.6765C>A (p.Ser2255Arg)
c.6746-1363C>A (n.6746-1363C>A)
c.4749C>A (p.Ser1583Arg)
c.2439C>A (p.Ser813Arg)
n.7138C>A
18g.23907790C=CA2290325984LAMA3c.2043C= (p.Ser681=)
c.6870C= (p.Ser2290=)
c.3611-1363C= (n.3611-1363C=)
c.6702C= (p.Ser2234=)
c.1648C=
c.1875C= (p.Ser625=)
n.1448C=
c.6897C= (p.Ser2299=)
c.6888C= (p.Ser2296=)
c.6879C= (p.Ser2293=)
c.6765C= (p.Ser2255=)
c.6746-1363C= (n.6746-1363C=)
c.4749C= (p.Ser1583=)
c.2439C= (p.Ser813=)
n.7138C=
18g.23907790C>GCA402053132LAMA3c.2043C>G (p.Ser681Arg)
c.6870C>G (p.Ser2290Arg)
c.3611-1363C>G (n.3611-1363C>G)
c.6702C>G (p.Ser2234Arg)
c.1648C>G
c.1875C>G (p.Ser625Arg)
n.1448C>G
c.6897C>G (p.Ser2299Arg)
c.6888C>G (p.Ser2296Arg)
c.6879C>G (p.Ser2293Arg)
c.6765C>G (p.Ser2255Arg)
c.6746-1363C>G (n.6746-1363C>G)
c.4749C>G (p.Ser1583Arg)
c.2439C>G (p.Ser813Arg)
n.7138C>G
18g.23907790C>TCA503337479LAMA3c.2043C>T (p.Ser681=)
c.6870C>T (p.Ser2290=)
c.3611-1363C>T (n.3611-1363C>T)
c.6702C>T (p.Ser2234=)
c.1648C>T
c.1875C>T (p.Ser625=)
n.1448C>T
c.6897C>T (p.Ser2299=)
c.6888C>T (p.Ser2296=)
c.6879C>T (p.Ser2293=)
c.6765C>T (p.Ser2255=)
c.6746-1363C>T (n.6746-1363C>T)
c.4749C>T (p.Ser1583=)
c.2439C>T (p.Ser813=)
n.7138C>T
 dbSNP gnomAD v3 gnomAD v4
18g.23907791A=CA2290325985LAMA3c.2044A= (p.Met682=)
c.6871A= (p.Met2291=)
c.3611-1362A= (n.3611-1362A=)
c.6703A= (p.Met2235=)
c.1649A=
c.1876A= (p.Met626=)
n.1449A=
c.6898A= (p.Met2300=)
c.6889A= (p.Met2297=)
c.6880A= (p.Met2294=)
c.6766A= (p.Met2256=)
c.6746-1362A= (n.6746-1362A=)
c.4750A= (p.Met1584=)
c.2440A= (p.Met814=)
n.7139A=
18g.23907791A>CCA402053137LAMA3c.2044A>C (p.Met682Leu)
c.6871A>C (p.Met2291Leu)
c.3611-1362A>C (n.3611-1362A>C)
c.6703A>C (p.Met2235Leu)
c.1649A>C
c.1876A>C (p.Met626Leu)
n.1449A>C
c.6898A>C (p.Met2300Leu)
c.6889A>C (p.Met2297Leu)
c.6880A>C (p.Met2294Leu)
c.6766A>C (p.Met2256Leu)
c.6746-1362A>C (n.6746-1362A>C)
c.4750A>C (p.Met1584Leu)
c.2440A>C (p.Met814Leu)
n.7139A>C
18g.23907791A>GCA297104809LAMA3c.2044A>G (p.Met682Val)
c.6871A>G (p.Met2291Val)
c.3611-1362A>G (n.3611-1362A>G)
c.6703A>G (p.Met2235Val)
c.1649A>G
c.1876A>G (p.Met626Val)
n.1449A>G
c.6898A>G (p.Met2300Val)
c.6889A>G (p.Met2297Val)
c.6880A>G (p.Met2294Val)
c.6766A>G (p.Met2256Val)
c.6746-1362A>G (n.6746-1362A>G)
c.4750A>G (p.Met1584Val)
c.2440A>G (p.Met814Val)
n.7139A>G
 dbSNP
18g.23907791A>TCA402053134LAMA3c.2044A>T (p.Met682Leu)
c.6871A>T (p.Met2291Leu)
c.3611-1362A>T (n.3611-1362A>T)
c.6703A>T (p.Met2235Leu)
c.1649A>T
c.1876A>T (p.Met626Leu)
n.1449A>T
c.6898A>T (p.Met2300Leu)
c.6889A>T (p.Met2297Leu)
c.6880A>T (p.Met2294Leu)
c.6766A>T (p.Met2256Leu)
c.6746-1362A>T (n.6746-1362A>T)
c.4750A>T (p.Met1584Leu)
c.2440A>T (p.Met814Leu)
n.7139A>T
 gnomAD v4
18g.23907792T>ACA402053139LAMA3c.2045T>A (p.Met682Lys)
c.6872T>A (p.Met2291Lys)
c.3611-1361T>A (n.3611-1361T>A)
c.6704T>A (p.Met2235Lys)
c.1650T>A
c.1877T>A (p.Met626Lys)
n.1450T>A
c.6899T>A (p.Met2300Lys)
c.6890T>A (p.Met2297Lys)
c.6881T>A (p.Met2294Lys)
c.6767T>A (p.Met2256Lys)
c.6746-1361T>A (n.6746-1361T>A)
c.4751T>A (p.Met1584Lys)
c.2441T>A (p.Met814Lys)
n.7140T>A
18g.23907792T>CCA402053140LAMA3c.2045T>C (p.Met682Thr)
c.6872T>C (p.Met2291Thr)
c.3611-1361T>C (n.3611-1361T>C)
c.6704T>C (p.Met2235Thr)
c.1650T>C
c.1877T>C (p.Met626Thr)
n.1450T>C
c.6899T>C (p.Met2300Thr)
c.6890T>C (p.Met2297Thr)
c.6881T>C (p.Met2294Thr)
c.6767T>C (p.Met2256Thr)
c.6746-1361T>C (n.6746-1361T>C)
c.4751T>C (p.Met1584Thr)
c.2441T>C (p.Met814Thr)
n.7140T>C
 gnomAD v4
18g.23907792T>GCA402053142LAMA3c.2045T>G (p.Met682Arg)
c.6872T>G (p.Met2291Arg)
c.3611-1361T>G (n.3611-1361T>G)
c.6704T>G (p.Met2235Arg)
c.1650T>G
c.1877T>G (p.Met626Arg)
n.1450T>G
c.6899T>G (p.Met2300Arg)
c.6890T>G (p.Met2297Arg)
c.6881T>G (p.Met2294Arg)
c.6767T>G (p.Met2256Arg)
c.6746-1361T>G (n.6746-1361T>G)
c.4751T>G (p.Met1584Arg)
c.2441T>G (p.Met814Arg)
n.7140T>G
18g.23907793G>ACA402053144LAMA3c.2046G>A (p.Met682Ile)
c.6873G>A (p.Met2291Ile)
c.3611-1360G>A (n.3611-1360G>A)
c.6705G>A (p.Met2235Ile)
c.1651G>A
c.1878G>A (p.Met626Ile)
n.1451G>A
c.6900G>A (p.Met2300Ile)
c.6891G>A (p.Met2297Ile)
c.6882G>A (p.Met2294Ile)
c.6768G>A (p.Met2256Ile)
c.6746-1360G>A (n.6746-1360G>A)
c.4752G>A (p.Met1584Ile)
c.2442G>A (p.Met814Ile)
n.7141G>A
 gnomAD v4
18g.23907793G>CCA402053145LAMA3c.2046G>C (p.Met682Ile)
c.6873G>C (p.Met2291Ile)
c.3611-1360G>C (n.3611-1360G>C)
c.6705G>C (p.Met2235Ile)
c.1651G>C
c.1878G>C (p.Met626Ile)
n.1451G>C
c.6900G>C (p.Met2300Ile)
c.6891G>C (p.Met2297Ile)
c.6882G>C (p.Met2294Ile)
c.6768G>C (p.Met2256Ile)
c.6746-1360G>C (n.6746-1360G>C)
c.4752G>C (p.Met1584Ile)
c.2442G>C (p.Met814Ile)
n.7141G>C
18g.23907793G>TCA402053148LAMA3c.2046G>T (p.Met682Ile)
c.6873G>T (p.Met2291Ile)
c.3611-1360G>T (n.3611-1360G>T)
c.6705G>T (p.Met2235Ile)
c.1651G>T
c.1878G>T (p.Met626Ile)
n.1451G>T
c.6900G>T (p.Met2300Ile)
c.6891G>T (p.Met2297Ile)
c.6882G>T (p.Met2294Ile)
c.6768G>T (p.Met2256Ile)
c.6746-1360G>T (n.6746-1360G>T)
c.4752G>T (p.Met1584Ile)
c.2442G>T (p.Met814Ile)
n.7141G>T
18g.23907794G>ACA402053150LAMA3c.2047G>A (p.Val683Ile)
c.6874G>A (p.Val2292Ile)
c.3611-1359G>A (n.3611-1359G>A)
c.6706G>A (p.Val2236Ile)
c.1652G>A
c.1879G>A (p.Val627Ile)
n.1452G>A
c.6901G>A (p.Val2301Ile)
c.6892G>A (p.Val2298Ile)
c.6883G>A (p.Val2295Ile)
c.6769G>A (p.Val2257Ile)
c.6746-1359G>A (n.6746-1359G>A)
c.4753G>A (p.Val1585Ile)
c.2443G>A (p.Val815Ile)
n.7142G>A
18g.23907794G>CCA402053154LAMA3c.2047G>C (p.Val683Leu)
c.6874G>C (p.Val2292Leu)
c.3611-1359G>C (n.3611-1359G>C)
c.6706G>C (p.Val2236Leu)
c.1652G>C
c.1879G>C (p.Val627Leu)
n.1452G>C
c.6901G>C (p.Val2301Leu)
c.6892G>C (p.Val2298Leu)
c.6883G>C (p.Val2295Leu)
c.6769G>C (p.Val2257Leu)
c.6746-1359G>C (n.6746-1359G>C)
c.4753G>C (p.Val1585Leu)
c.2443G>C (p.Val815Leu)
n.7142G>C
18g.23907794G>TCA402053152LAMA3c.2047G>T (p.Val683Phe)
c.6874G>T (p.Val2292Phe)
c.3611-1359G>T (n.3611-1359G>T)
c.6706G>T (p.Val2236Phe)
c.1652G>T
c.1879G>T (p.Val627Phe)
n.1452G>T
c.6901G>T (p.Val2301Phe)
c.6892G>T (p.Val2298Phe)
c.6883G>T (p.Val2295Phe)
c.6769G>T (p.Val2257Phe)
c.6746-1359G>T (n.6746-1359G>T)
c.4753G>T (p.Val1585Phe)
c.2443G>T (p.Val815Phe)
n.7142G>T
18g.23907795T>ACA402053156LAMA3c.2048T>A (p.Val683Asp)
c.6875T>A (p.Val2292Asp)
c.3611-1358T>A (n.3611-1358T>A)
c.6707T>A (p.Val2236Asp)
c.1653T>A
c.1880T>A (p.Val627Asp)
n.1453T>A
c.6902T>A (p.Val2301Asp)
c.6893T>A (p.Val2298Asp)
c.6884T>A (p.Val2295Asp)
c.6770T>A (p.Val2257Asp)
c.6746-1358T>A (n.6746-1358T>A)
c.4754T>A (p.Val1585Asp)
c.2444T>A (p.Val815Asp)
n.7143T>A
18g.23907795T>CCA402053158LAMA3c.2048T>C (p.Val683Ala)
c.6875T>C (p.Val2292Ala)
c.3611-1358T>C (n.3611-1358T>C)
c.6707T>C (p.Val2236Ala)
c.1653T>C
c.1880T>C (p.Val627Ala)
n.1453T>C
c.6902T>C (p.Val2301Ala)
c.6893T>C (p.Val2298Ala)
c.6884T>C (p.Val2295Ala)
c.6770T>C (p.Val2257Ala)
c.6746-1358T>C (n.6746-1358T>C)
c.4754T>C (p.Val1585Ala)
c.2444T>C (p.Val815Ala)
n.7143T>C
 dbSNP gnomAD v3 gnomAD v4
18g.23907795T>GCA297104819LAMA3c.2048T>G (p.Val683Gly)
c.6875T>G (p.Val2292Gly)
c.3611-1358T>G (n.3611-1358T>G)
c.6707T>G (p.Val2236Gly)
c.1653T>G
c.1880T>G (p.Val627Gly)
n.1453T>G
c.6902T>G (p.Val2301Gly)
c.6893T>G (p.Val2298Gly)
c.6884T>G (p.Val2295Gly)
c.6770T>G (p.Val2257Gly)
c.6746-1358T>G (n.6746-1358T>G)
c.4754T>G (p.Val1585Gly)
c.2444T>G (p.Val815Gly)
n.7143T>G
 dbSNP
18g.23907795T=CA2290325986LAMA3c.2048T= (p.Val683=)
c.6875T= (p.Val2292=)
c.3611-1358T= (n.3611-1358T=)
c.6707T= (p.Val2236=)
c.1653T=
c.1880T= (p.Val627=)
n.1453T=
c.6902T= (p.Val2301=)
c.6893T= (p.Val2298=)
c.6884T= (p.Val2295=)
c.6770T= (p.Val2257=)
c.6746-1358T= (n.6746-1358T=)
c.4754T= (p.Val1585=)
c.2444T= (p.Val815=)
n.7143T=
18g.23907796C>ACA503337480LAMA3c.2049C>A (p.Val683=)
c.6876C>A (p.Val2292=)
c.3611-1357C>A (n.3611-1357C>A)
c.6708C>A (p.Val2236=)
c.1654C>A
c.1881C>A (p.Val627=)
n.1454C>A
c.6903C>A (p.Val2301=)
c.6894C>A (p.Val2298=)
c.6885C>A (p.Val2295=)
c.6771C>A (p.Val2257=)
c.6746-1357C>A (n.6746-1357C>A)
c.4755C>A (p.Val1585=)
c.2445C>A (p.Val815=)
n.7144C>A
 ClinVar dbSNP gnomAD v4
18g.23907796C>GCA503337481LAMA3c.2049C>G (p.Val683=)
c.6876C>G (p.Val2292=)
c.3611-1357C>G (n.3611-1357C>G)
c.6708C>G (p.Val2236=)
c.1654C>G
c.1881C>G (p.Val627=)
n.1454C>G
c.6903C>G (p.Val2301=)
c.6894C>G (p.Val2298=)
c.6885C>G (p.Val2295=)
c.6771C>G (p.Val2257=)
c.6746-1357C>G (n.6746-1357C>G)
c.4755C>G (p.Val1585=)
c.2445C>G (p.Val815=)
n.7144C>G
18g.23907796C>TCA503337482LAMA3c.2049C>T (p.Val683=)
c.6876C>T (p.Val2292=)
c.3611-1357C>T (n.3611-1357C>T)
c.6708C>T (p.Val2236=)
c.1654C>T
c.1881C>T (p.Val627=)
n.1454C>T
c.6903C>T (p.Val2301=)
c.6894C>T (p.Val2298=)
c.6885C>T (p.Val2295=)
c.6771C>T (p.Val2257=)
c.6746-1357C>T (n.6746-1357C>T)
c.4755C>T (p.Val1585=)
c.2445C>T (p.Val815=)
n.7144C>T
18g.23907797A>CCA503337483LAMA3c.2050A>C (p.Arg684=)
c.6877A>C (p.Arg2293=)
c.3611-1356A>C (n.3611-1356A>C)
c.6709A>C (p.Arg2237=)
c.1655A>C
c.1882A>C (p.Arg628=)
n.1455A>C
c.6904A>C (p.Arg2302=)
c.6895A>C (p.Arg2299=)
c.6886A>C (p.Arg2296=)
c.6772A>C (p.Arg2258=)
c.6746-1356A>C (n.6746-1356A>C)
c.4756A>C (p.Arg1586=)
c.2446A>C (p.Arg816=)
n.7145A>C
18g.23907797A>GCA402053160LAMA3c.2050A>G (p.Arg684Gly)
c.6877A>G (p.Arg2293Gly)
c.3611-1356A>G (n.3611-1356A>G)
c.6709A>G (p.Arg2237Gly)
c.1655A>G
c.1882A>G (p.Arg628Gly)
n.1455A>G
c.6904A>G (p.Arg2302Gly)
c.6895A>G (p.Arg2299Gly)
c.6886A>G (p.Arg2296Gly)
c.6772A>G (p.Arg2258Gly)
c.6746-1356A>G (n.6746-1356A>G)
c.4756A>G (p.Arg1586Gly)
c.2446A>G (p.Arg816Gly)
n.7145A>G
 gnomAD v4
18g.23907797A>TCA402053162LAMA3c.2050A>T (p.Arg684Ter)
c.6877A>T (p.Arg2293Ter)
c.3611-1356A>T (n.3611-1356A>T)
c.6709A>T (p.Arg2237Ter)
c.1655A>T
c.1882A>T (p.Arg628Ter)
n.1455A>T
c.6904A>T (p.Arg2302Ter)
c.6895A>T (p.Arg2299Ter)
c.6886A>T (p.Arg2296Ter)
c.6772A>T (p.Arg2258Ter)
c.6746-1356A>T (n.6746-1356A>T)
c.4756A>T (p.Arg1586Ter)
c.2446A>T (p.Arg816Ter)
n.7145A>T
18g.23907798G>ACA402053165LAMA3c.2051G>A (p.Arg684Lys)
c.6878G>A (p.Arg2293Lys)
c.3611-1355G>A (n.3611-1355G>A)
c.6710G>A (p.Arg2237Lys)
c.1656G>A
c.1883G>A (p.Arg628Lys)
n.1456G>A
c.6905G>A (p.Arg2302Lys)
c.6896G>A (p.Arg2299Lys)
c.6887G>A (p.Arg2296Lys)
c.6773G>A (p.Arg2258Lys)
c.6746-1355G>A (n.6746-1355G>A)
c.4757G>A (p.Arg1586Lys)
c.2447G>A (p.Arg816Lys)
n.7146G>A
18g.23907798G>CCA402053166LAMA3c.2051G>C (p.Arg684Thr)
c.6878G>C (p.Arg2293Thr)
c.3611-1355G>C (n.3611-1355G>C)
c.6710G>C (p.Arg2237Thr)
c.1656G>C
c.1883G>C (p.Arg628Thr)
n.1456G>C
c.6905G>C (p.Arg2302Thr)
c.6896G>C (p.Arg2299Thr)
c.6887G>C (p.Arg2296Thr)
c.6773G>C (p.Arg2258Thr)
c.6746-1355G>C (n.6746-1355G>C)
c.4757G>C (p.Arg1586Thr)
c.2447G>C (p.Arg816Thr)
n.7146G>C
18g.23907798G>TCA402053168LAMA3c.2051G>T (p.Arg684Ile)
c.6878G>T (p.Arg2293Ile)
c.3611-1355G>T (n.3611-1355G>T)
c.6710G>T (p.Arg2237Ile)
c.1656G>T
c.1883G>T (p.Arg628Ile)
n.1456G>T
c.6905G>T (p.Arg2302Ile)
c.6896G>T (p.Arg2299Ile)
c.6887G>T (p.Arg2296Ile)
c.6773G>T (p.Arg2258Ile)
c.6746-1355G>T (n.6746-1355G>T)
c.4757G>T (p.Arg1586Ile)
c.2447G>T (p.Arg816Ile)
n.7146G>T
18g.23907799A>CCA402053170LAMA3c.2052A>C (p.Arg684Ser)
c.6879A>C (p.Arg2293Ser)
c.3611-1354A>C (n.3611-1354A>C)
c.6711A>C (p.Arg2237Ser)
c.1657A>C
c.1884A>C (p.Arg628Ser)
n.1457A>C
c.6906A>C (p.Arg2302Ser)
c.6897A>C (p.Arg2299Ser)
c.6888A>C (p.Arg2296Ser)
c.6774A>C (p.Arg2258Ser)
c.6746-1354A>C (n.6746-1354A>C)
c.4758A>C (p.Arg1586Ser)
c.2448A>C (p.Arg816Ser)
n.7147A>C
18g.23907799A>GCA503337484LAMA3c.2052A>G (p.Arg684=)
c.6879A>G (p.Arg2293=)
c.3611-1354A>G (n.3611-1354A>G)
c.6711A>G (p.Arg2237=)
c.1657A>G
c.1884A>G (p.Arg628=)
n.1457A>G
c.6906A>G (p.Arg2302=)
c.6897A>G (p.Arg2299=)
c.6888A>G (p.Arg2296=)
c.6774A>G (p.Arg2258=)
c.6746-1354A>G (n.6746-1354A>G)
c.4758A>G (p.Arg1586=)
c.2448A>G (p.Arg816=)
n.7147A>G
18g.23907799A>TCA402053172LAMA3c.2052A>T (p.Arg684Ser)
c.6879A>T (p.Arg2293Ser)
c.3611-1354A>T (n.3611-1354A>T)
c.6711A>T (p.Arg2237Ser)
c.1657A>T
c.1884A>T (p.Arg628Ser)
n.1457A>T
c.6906A>T (p.Arg2302Ser)
c.6897A>T (p.Arg2299Ser)
c.6888A>T (p.Arg2296Ser)
c.6774A>T (p.Arg2258Ser)
c.6746-1354A>T (n.6746-1354A>T)
c.4758A>T (p.Arg1586Ser)
c.2448A>T (p.Arg816Ser)
n.7147A>T
18g.23907801_23907807delCA2695227276LAMA3c.2054_2060del (p.Lys685ThrfsTer?)
c.6881_6887del (p.Lys2294ThrfsTer?)
c.3611-1352_3611-1346del (n.3611-1352_3611-1346del)
c.6713_6719del (p.Lys2238ThrfsTer?)
c.1659_1665del
c.1886_1892del (p.Lys629ThrfsTer?)
n.1459_1465del
c.6908_6914del (p.Lys2303ThrfsTer?)
c.6899_6905del (p.Lys2300ThrfsTer?)
c.6890_6896del (p.Lys2297ThrfsTer?)
c.6776_6782del (p.Lys2259ThrfsTer?)
c.6746-1352_6746-1346del (n.6746-1352_6746-1346del)
c.4760_4766del (p.Lys1587ThrfsTer?)
c.2450_2456del (p.Lys817ThrfsTer?)
n.7149_7155del
18g.23907800A>CCA402053178LAMA3c.2053A>C (p.Lys685Gln)
c.6880A>C (p.Lys2294Gln)
c.3611-1353A>C (n.3611-1353A>C)
c.6712A>C (p.Lys2238Gln)
c.1658A>C
c.1885A>C (p.Lys629Gln)
n.1458A>C
c.6907A>C (p.Lys2303Gln)
c.6898A>C (p.Lys2300Gln)
c.6889A>C (p.Lys2297Gln)
c.6775A>C (p.Lys2259Gln)
c.6746-1353A>C (n.6746-1353A>C)
c.4759A>C (p.Lys1587Gln)
c.2449A>C (p.Lys817Gln)
n.7148A>C
18g.23907800A>GCA402053176LAMA3c.2053A>G (p.Lys685Glu)
c.6880A>G (p.Lys2294Glu)
c.3611-1353A>G (n.3611-1353A>G)
c.6712A>G (p.Lys2238Glu)
c.1658A>G
c.1885A>G (p.Lys629Glu)
n.1458A>G
c.6907A>G (p.Lys2303Glu)
c.6898A>G (p.Lys2300Glu)
c.6889A>G (p.Lys2297Glu)
c.6775A>G (p.Lys2259Glu)
c.6746-1353A>G (n.6746-1353A>G)
c.4759A>G (p.Lys1587Glu)
c.2449A>G (p.Lys817Glu)
n.7148A>G
18g.23907800A>TCA402053174LAMA3c.2053A>T (p.Lys685Ter)
c.6880A>T (p.Lys2294Ter)
c.3611-1353A>T (n.3611-1353A>T)
c.6712A>T (p.Lys2238Ter)
c.1658A>T
c.1885A>T (p.Lys629Ter)
n.1458A>T
c.6907A>T (p.Lys2303Ter)
c.6898A>T (p.Lys2300Ter)
c.6889A>T (p.Lys2297Ter)
c.6775A>T (p.Lys2259Ter)
c.6746-1353A>T (n.6746-1353A>T)
c.4759A>T (p.Lys1587Ter)
c.2449A>T (p.Lys817Ter)
n.7148A>T
18g.23907801A=CA2290325987LAMA3c.2054A= (p.Lys685=)
c.6881A= (p.Lys2294=)
c.3611-1352A= (n.3611-1352A=)
c.6713A= (p.Lys2238=)
c.1659A=
c.1886A= (p.Lys629=)
n.1459A=
c.6908A= (p.Lys2303=)
c.6899A= (p.Lys2300=)
c.6890A= (p.Lys2297=)
c.6776A= (p.Lys2259=)
c.6746-1352A= (n.6746-1352A=)
c.4760A= (p.Lys1587=)
c.2450A= (p.Lys817=)
n.7149A=
18g.23907801A>CCA402053180LAMA3c.2054A>C (p.Lys685Thr)
c.6881A>C (p.Lys2294Thr)
c.3611-1352A>C (n.3611-1352A>C)
c.6713A>C (p.Lys2238Thr)
c.1659A>C
c.1886A>C (p.Lys629Thr)
n.1459A>C
c.6908A>C (p.Lys2303Thr)
c.6899A>C (p.Lys2300Thr)
c.6890A>C (p.Lys2297Thr)
c.6776A>C (p.Lys2259Thr)
c.6746-1352A>C (n.6746-1352A>C)
c.4760A>C (p.Lys1587Thr)
c.2450A>C (p.Lys817Thr)
n.7149A>C
18g.23907801A>GCA402053184LAMA3c.2054A>G (p.Lys685Arg)
c.6881A>G (p.Lys2294Arg)
c.3611-1352A>G (n.3611-1352A>G)
c.6713A>G (p.Lys2238Arg)
c.1659A>G
c.1886A>G (p.Lys629Arg)
n.1459A>G
c.6908A>G (p.Lys2303Arg)
c.6899A>G (p.Lys2300Arg)
c.6890A>G (p.Lys2297Arg)
c.6776A>G (p.Lys2259Arg)
c.6746-1352A>G (n.6746-1352A>G)
c.4760A>G (p.Lys1587Arg)
c.2450A>G (p.Lys817Arg)
n.7149A>G
18g.23907801A>TCA402053182LAMA3c.2054A>T (p.Lys685Met)
c.6881A>T (p.Lys2294Met)
c.3611-1352A>T (n.3611-1352A>T)
c.6713A>T (p.Lys2238Met)
c.1659A>T
c.1886A>T (p.Lys629Met)
n.1459A>T
c.6908A>T (p.Lys2303Met)
c.6899A>T (p.Lys2300Met)
c.6890A>T (p.Lys2297Met)
c.6776A>T (p.Lys2259Met)
c.6746-1352A>T (n.6746-1352A>T)
c.4760A>T (p.Lys1587Met)
c.2450A>T (p.Lys817Met)
n.7149A>T
 dbSNP
18g.23907802G>ACA503337485LAMA3c.2055G>A (p.Lys685=)
c.6882G>A (p.Lys2294=)
c.3611-1351G>A (n.3611-1351G>A)
c.6714G>A (p.Lys2238=)
c.1660G>A
c.1887G>A (p.Lys629=)
n.1460G>A
c.6909G>A (p.Lys2303=)
c.6900G>A (p.Lys2300=)
c.6891G>A (p.Lys2297=)
c.6777G>A (p.Lys2259=)
c.6746-1351G>A (n.6746-1351G>A)
c.4761G>A (p.Lys1587=)
c.2451G>A (p.Lys817=)
n.7150G>A
18g.23907802G>CCA402053186LAMA3c.2055G>C (p.Lys685Asn)
c.6882G>C (p.Lys2294Asn)
c.3611-1351G>C (n.3611-1351G>C)
c.6714G>C (p.Lys2238Asn)
c.1660G>C
c.1887G>C (p.Lys629Asn)
n.1460G>C
c.6909G>C (p.Lys2303Asn)
c.6900G>C (p.Lys2300Asn)
c.6891G>C (p.Lys2297Asn)
c.6777G>C (p.Lys2259Asn)
c.6746-1351G>C (n.6746-1351G>C)
c.4761G>C (p.Lys1587Asn)
c.2451G>C (p.Lys817Asn)
n.7150G>C
18g.23907802G>TCA402053188LAMA3c.2055G>T (p.Lys685Asn)
c.6882G>T (p.Lys2294Asn)
c.3611-1351G>T (n.3611-1351G>T)
c.6714G>T (p.Lys2238Asn)
c.1660G>T
c.1887G>T (p.Lys629Asn)
n.1460G>T
c.6909G>T (p.Lys2303Asn)
c.6900G>T (p.Lys2300Asn)
c.6891G>T (p.Lys2297Asn)
c.6777G>T (p.Lys2259Asn)
c.6746-1351G>T (n.6746-1351G>T)
c.4761G>T (p.Lys1587Asn)
c.2451G>T (p.Lys817Asn)
n.7150G>T
18g.23907803dupCA2290325988LAMA3c.2056dup (p.Ala686GlyfsTer7)
c.6883dup (p.Ala2295GlyfsTer7)
c.3611-1350dup (n.3611-1350dup)
c.6715dup (p.Ala2239GlyfsTer7)
c.1661dup
c.1888dup (p.Ala630GlyfsTer7)
n.1461dup
c.6910dup (p.Ala2304GlyfsTer7)
c.6901dup (p.Ala2301GlyfsTer7)
c.6892dup (p.Ala2298GlyfsTer7)
c.6778dup (p.Ala2260GlyfsTer7)
c.6746-1350dup (n.6746-1350dup)
c.4762dup (p.Ala1588GlyfsTer7)
c.2452dup (p.Ala818GlyfsTer7)
n.7151dup
 dbSNP
18g.23907803G>ACA402053190LAMA3c.2056G>A (p.Ala686Thr)
c.6883G>A (p.Ala2295Thr)
c.3611-1350G>A (n.3611-1350G>A)
c.6715G>A (p.Ala2239Thr)
c.1661G>A
c.1888G>A (p.Ala630Thr)
n.1461G>A
c.6910G>A (p.Ala2304Thr)
c.6901G>A (p.Ala2301Thr)
c.6892G>A (p.Ala2298Thr)
c.6778G>A (p.Ala2260Thr)
c.6746-1350G>A (n.6746-1350G>A)
c.4762G>A (p.Ala1588Thr)
c.2452G>A (p.Ala818Thr)
n.7151G>A
 gnomAD v4
18g.23907803G>CCA402053192LAMA3c.2056G>C (p.Ala686Pro)
c.6883G>C (p.Ala2295Pro)
c.3611-1350G>C (n.3611-1350G>C)
c.6715G>C (p.Ala2239Pro)
c.1661G>C
c.1888G>C (p.Ala630Pro)
n.1461G>C
c.6910G>C (p.Ala2304Pro)
c.6901G>C (p.Ala2301Pro)
c.6892G>C (p.Ala2298Pro)
c.6778G>C (p.Ala2260Pro)
c.6746-1350G>C (n.6746-1350G>C)
c.4762G>C (p.Ala1588Pro)
c.2452G>C (p.Ala818Pro)
n.7151G>C
18g.23907803G>TCA402053194LAMA3c.2056G>T (p.Ala686Ser)
c.6883G>T (p.Ala2295Ser)
c.3611-1350G>T (n.3611-1350G>T)
c.6715G>T (p.Ala2239Ser)
c.1661G>T
c.1888G>T (p.Ala630Ser)
n.1461G>T
c.6910G>T (p.Ala2304Ser)
c.6901G>T (p.Ala2301Ser)
c.6892G>T (p.Ala2298Ser)
c.6778G>T (p.Ala2260Ser)
c.6746-1350G>T (n.6746-1350G>T)
c.4762G>T (p.Ala1588Ser)
c.2452G>T (p.Ala818Ser)
n.7151G>T
18g.23907804_23907809delCA2641295249LAMA3c.2057_2062del (p.Ala686_Asn687del)
c.6884_6889del (p.Ala2295_Asn2296del)
c.3611-1349_3611-1344del (n.3611-1349_3611-1344del)
c.6716_6721del (p.Ala2239_Asn2240del)
c.1662_1667del
c.1889_1894del (p.Ala630_Asn631del)
n.1462_1467del
c.6911_6916del (p.Ala2304_Asn2305del)
c.6902_6907del (p.Ala2301_Asn2302del)
c.6893_6898del (p.Ala2298_Asn2299del)
c.6779_6784del (p.Ala2260_Asn2261del)
c.6746-1349_6746-1344del (n.6746-1349_6746-1344del)
c.4763_4768del (p.Ala1588_Asn1589del)
c.2453_2458del (p.Ala818_Asn819del)
n.7152_7157del
 gnomAD v4
18g.23907804C>ACA402053196LAMA3c.2057C>A (p.Ala686Asp)
c.6884C>A (p.Ala2295Asp)
c.3611-1349C>A (n.3611-1349C>A)
c.6716C>A (p.Ala2239Asp)
c.1662C>A
c.1889C>A (p.Ala630Asp)
n.1462C>A
c.6911C>A (p.Ala2304Asp)
c.6902C>A (p.Ala2301Asp)
c.6893C>A (p.Ala2298Asp)
c.6779C>A (p.Ala2260Asp)
c.6746-1349C>A (n.6746-1349C>A)
c.4763C>A (p.Ala1588Asp)
c.2453C>A (p.Ala818Asp)
n.7152C>A
18g.23907804C>GCA402053198LAMA3c.2057C>G (p.Ala686Gly)
c.6884C>G (p.Ala2295Gly)
c.3611-1349C>G (n.3611-1349C>G)
c.6716C>G (p.Ala2239Gly)
c.1662C>G
c.1889C>G (p.Ala630Gly)
n.1462C>G
c.6911C>G (p.Ala2304Gly)
c.6902C>G (p.Ala2301Gly)
c.6893C>G (p.Ala2298Gly)
c.6779C>G (p.Ala2260Gly)
c.6746-1349C>G (n.6746-1349C>G)
c.4763C>G (p.Ala1588Gly)
c.2453C>G (p.Ala818Gly)
n.7152C>G
18g.23907804C>TCA402053200LAMA3c.2057C>T (p.Ala686Val)
c.6884C>T (p.Ala2295Val)
c.3611-1349C>T (n.3611-1349C>T)
c.6716C>T (p.Ala2239Val)
c.1662C>T
c.1889C>T (p.Ala630Val)
n.1462C>T
c.6911C>T (p.Ala2304Val)
c.6902C>T (p.Ala2301Val)
c.6893C>T (p.Ala2298Val)
c.6779C>T (p.Ala2260Val)
c.6746-1349C>T (n.6746-1349C>T)
c.4763C>T (p.Ala1588Val)
c.2453C>T (p.Ala818Val)
n.7152C>T
18g.23907805C>ACA503337488LAMA3c.2058C>A (p.Ala686=)
c.6885C>A (p.Ala2295=)
c.3611-1348C>A (n.3611-1348C>A)
c.6717C>A (p.Ala2239=)
c.1663C>A
c.1890C>A (p.Ala630=)
n.1463C>A
c.6912C>A (p.Ala2304=)
c.6903C>A (p.Ala2301=)
c.6894C>A (p.Ala2298=)
c.6780C>A (p.Ala2260=)
c.6746-1348C>A (n.6746-1348C>A)
c.4764C>A (p.Ala1588=)
c.2454C>A (p.Ala818=)
n.7153C>A
18g.23907805C>GCA503337486LAMA3c.2058C>G (p.Ala686=)
c.6885C>G (p.Ala2295=)
c.3611-1348C>G (n.3611-1348C>G)
c.6717C>G (p.Ala2239=)
c.1663C>G
c.1890C>G (p.Ala630=)
n.1463C>G
c.6912C>G (p.Ala2304=)
c.6903C>G (p.Ala2301=)
c.6894C>G (p.Ala2298=)
c.6780C>G (p.Ala2260=)
c.6746-1348C>G (n.6746-1348C>G)
c.4764C>G (p.Ala1588=)
c.2454C>G (p.Ala818=)
n.7153C>G
18g.23907805C>TCA503337487LAMA3c.2058C>T (p.Ala686=)
c.6885C>T (p.Ala2295=)
c.3611-1348C>T (n.3611-1348C>T)
c.6717C>T (p.Ala2239=)
c.1663C>T
c.1890C>T (p.Ala630=)
n.1463C>T
c.6912C>T (p.Ala2304=)
c.6903C>T (p.Ala2301=)
c.6894C>T (p.Ala2298=)
c.6780C>T (p.Ala2260=)
c.6746-1348C>T (n.6746-1348C>T)
c.4764C>T (p.Ala1588=)
c.2454C>T (p.Ala818=)
n.7153C>T
18g.23907806A>CCA402053202LAMA3c.2059A>C (p.Asn687His)
c.6886A>C (p.Asn2296His)
c.3611-1347A>C (n.3611-1347A>C)
c.6718A>C (p.Asn2240His)
c.1664A>C
c.1891A>C (p.Asn631His)
n.1464A>C
c.6913A>C (p.Asn2305His)
c.6904A>C (p.Asn2302His)
c.6895A>C (p.Asn2299His)
c.6781A>C (p.Asn2261His)
c.6746-1347A>C (n.6746-1347A>C)
c.4765A>C (p.Asn1589His)
c.2455A>C (p.Asn819His)
n.7154A>C
18g.23907806A>GCA402053204LAMA3c.2059A>G (p.Asn687Asp)
c.6886A>G (p.Asn2296Asp)
c.3611-1347A>G (n.3611-1347A>G)
c.6718A>G (p.Asn2240Asp)
c.1664A>G
c.1891A>G (p.Asn631Asp)
n.1464A>G
c.6913A>G (p.Asn2305Asp)
c.6904A>G (p.Asn2302Asp)
c.6895A>G (p.Asn2299Asp)
c.6781A>G (p.Asn2261Asp)
c.6746-1347A>G (n.6746-1347A>G)
c.4765A>G (p.Asn1589Asp)
c.2455A>G (p.Asn819Asp)
n.7154A>G
18g.23907806A>TCA402053205LAMA3c.2059A>T (p.Asn687Tyr)
c.6886A>T (p.Asn2296Tyr)
c.3611-1347A>T (n.3611-1347A>T)
c.6718A>T (p.Asn2240Tyr)
c.1664A>T
c.1891A>T (p.Asn631Tyr)
n.1464A>T
c.6913A>T (p.Asn2305Tyr)
c.6904A>T (p.Asn2302Tyr)
c.6895A>T (p.Asn2299Tyr)
c.6781A>T (p.Asn2261Tyr)
c.6746-1347A>T (n.6746-1347A>T)
c.4765A>T (p.Asn1589Tyr)
c.2455A>T (p.Asn819Tyr)
n.7154A>T
18g.23907807A=CA2290325989LAMA3c.2060A= (p.Asn687=)
c.6887A= (p.Asn2296=)
c.3611-1346A= (n.3611-1346A=)
c.6719A= (p.Asn2240=)
c.1665A=
c.1892A= (p.Asn631=)
n.1465A=
c.6914A= (p.Asn2305=)
c.6905A= (p.Asn2302=)
c.6896A= (p.Asn2299=)
c.6782A= (p.Asn2261=)
c.6746-1346A= (n.6746-1346A=)
c.4766A= (p.Asn1589=)
c.2456A= (p.Asn819=)
n.7155A=
18g.23907807A>CCA402053209LAMA3c.2060A>C (p.Asn687Thr)
c.6887A>C (p.Asn2296Thr)
c.3611-1346A>C (n.3611-1346A>C)
c.6719A>C (p.Asn2240Thr)
c.1665A>C
c.1892A>C (p.Asn631Thr)
n.1465A>C
c.6914A>C (p.Asn2305Thr)
c.6905A>C (p.Asn2302Thr)
c.6896A>C (p.Asn2299Thr)
c.6782A>C (p.Asn2261Thr)
c.6746-1346A>C (n.6746-1346A>C)
c.4766A>C (p.Asn1589Thr)
c.2456A>C (p.Asn819Thr)
n.7155A>C
18g.23907807A>GCA8916510LAMA3c.2060A>G (p.Asn687Ser)
c.6887A>G (p.Asn2296Ser)
c.3611-1346A>G (n.3611-1346A>G)
c.6719A>G (p.Asn2240Ser)
c.1665A>G
c.1892A>G (p.Asn631Ser)
n.1465A>G
c.6914A>G (p.Asn2305Ser)
c.6905A>G (p.Asn2302Ser)
c.6896A>G (p.Asn2299Ser)
c.6782A>G (p.Asn2261Ser)
c.6746-1346A>G (n.6746-1346A>G)
c.4766A>G (p.Asn1589Ser)
c.2456A>G (p.Asn819Ser)
n.7155A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23907807A>TCA402053207LAMA3c.2060A>T (p.Asn687Ile)
c.6887A>T (p.Asn2296Ile)
c.3611-1346A>T (n.3611-1346A>T)
c.6719A>T (p.Asn2240Ile)
c.1665A>T
c.1892A>T (p.Asn631Ile)
n.1465A>T
c.6914A>T (p.Asn2305Ile)
c.6905A>T (p.Asn2302Ile)
c.6896A>T (p.Asn2299Ile)
c.6782A>T (p.Asn2261Ile)
c.6746-1346A>T (n.6746-1346A>T)
c.4766A>T (p.Asn1589Ile)
c.2456A>T (p.Asn819Ile)
n.7155A>T
18g.23907808C>ACA8916512LAMA3c.2061C>A (p.Asn687Lys)
c.6888C>A (p.Asn2296Lys)
c.3611-1345C>A (n.3611-1345C>A)
c.6720C>A (p.Asn2240Lys)
c.1666C>A
c.1893C>A (p.Asn631Lys)
n.1466C>A
c.6915C>A (p.Asn2305Lys)
c.6906C>A (p.Asn2302Lys)
c.6897C>A (p.Asn2299Lys)
c.6783C>A (p.Asn2261Lys)
c.6746-1345C>A (n.6746-1345C>A)
c.4767C>A (p.Asn1589Lys)
c.2457C>A (p.Asn819Lys)
n.7156C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
18g.23907808C=CA2290325990LAMA3c.2061C= (p.Asn687=)
c.6888C= (p.Asn2296=)
c.3611-1345C= (n.3611-1345C=)
c.6720C= (p.Asn2240=)
c.1666C=
c.1893C= (p.Asn631=)
n.1466C=
c.6915C= (p.Asn2305=)
c.6906C= (p.Asn2302=)
c.6897C= (p.Asn2299=)
c.6783C= (p.Asn2261=)
c.6746-1345C= (n.6746-1345C=)
c.4767C= (p.Asn1589=)
c.2457C= (p.Asn819=)
n.7156C=
18g.23907808C>GCA402053213LAMA3c.2061C>G (p.Asn687Lys)
c.6888C>G (p.Asn2296Lys)
c.3611-1345C>G (n.3611-1345C>G)
c.6720C>G (p.Asn2240Lys)
c.1666C>G
c.1893C>G (p.Asn631Lys)
n.1466C>G
c.6915C>G (p.Asn2305Lys)
c.6906C>G (p.Asn2302Lys)
c.6897C>G (p.Asn2299Lys)
c.6783C>G (p.Asn2261Lys)
c.6746-1345C>G (n.6746-1345C>G)
c.4767C>G (p.Asn1589Lys)
c.2457C>G (p.Asn819Lys)
n.7156C>G
 gnomAD v4
18g.23907808C>TCA8916511LAMA3c.2061C>T (p.Asn687=)
c.6888C>T (p.Asn2296=)
c.3611-1345C>T (n.3611-1345C>T)
c.6720C>T (p.Asn2240=)
c.1666C>T
c.1893C>T (p.Asn631=)
n.1466C>T
c.6915C>T (p.Asn2305=)
c.6906C>T (p.Asn2302=)
c.6897C>T (p.Asn2299=)
c.6783C>T (p.Asn2261=)
c.6746-1345C>T (n.6746-1345C>T)
c.4767C>T (p.Asn1589=)
c.2457C>T (p.Asn819=)
n.7156C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23907809G>ACA8916513LAMA3c.2062G>A (p.Asp688Asn)
c.6889G>A (p.Asp2297Asn)
c.3611-1344G>A (n.3611-1344G>A)
c.6721G>A (p.Asp2241Asn)
c.1667G>A
c.1894G>A (p.Asp632Asn)
n.1467G>A
c.6916G>A (p.Asp2306Asn)
c.6907G>A (p.Asp2303Asn)
c.6898G>A (p.Asp2300Asn)
c.6784G>A (p.Asp2262Asn)
c.6746-1344G>A (n.6746-1344G>A)
c.4768G>A (p.Asp1590Asn)
c.2458G>A (p.Asp820Asn)
n.7157G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23907809G>CCA402053216LAMA3c.2062G>C (p.Asp688His)
c.6889G>C (p.Asp2297His)
c.3611-1344G>C (n.3611-1344G>C)
c.6721G>C (p.Asp2241His)
c.1667G>C
c.1894G>C (p.Asp632His)
n.1467G>C
c.6916G>C (p.Asp2306His)
c.6907G>C (p.Asp2303His)
c.6898G>C (p.Asp2300His)
c.6784G>C (p.Asp2262His)
c.6746-1344G>C (n.6746-1344G>C)
c.4768G>C (p.Asp1590His)
c.2458G>C (p.Asp820His)
n.7157G>C
18g.23907809G=CA2290325991LAMA3c.2062G= (p.Asp688=)
c.6889G= (p.Asp2297=)
c.3611-1344G= (n.3611-1344G=)
c.6721G= (p.Asp2241=)
c.1667G=
c.1894G= (p.Asp632=)
n.1467G=
c.6916G= (p.Asp2306=)
c.6907G= (p.Asp2303=)
c.6898G= (p.Asp2300=)
c.6784G= (p.Asp2262=)
c.6746-1344G= (n.6746-1344G=)
c.4768G= (p.Asp1590=)
c.2458G= (p.Asp820=)
n.7157G=
18g.23907809G>TCA297104837LAMA3c.2062G>T (p.Asp688Tyr)
c.6889G>T (p.Asp2297Tyr)
c.3611-1344G>T (n.3611-1344G>T)
c.6721G>T (p.Asp2241Tyr)
c.1667G>T
c.1894G>T (p.Asp632Tyr)
n.1467G>T
c.6916G>T (p.Asp2306Tyr)
c.6907G>T (p.Asp2303Tyr)
c.6898G>T (p.Asp2300Tyr)
c.6784G>T (p.Asp2262Tyr)
c.6746-1344G>T (n.6746-1344G>T)
c.4768G>T (p.Asp1590Tyr)
c.2458G>T (p.Asp820Tyr)
n.7157G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23907810A>CCA402053219LAMA3c.2063A>C (p.Asp688Ala)
c.6890A>C (p.Asp2297Ala)
c.3611-1343A>C (n.3611-1343A>C)
c.6722A>C (p.Asp2241Ala)
c.1668A>C
c.1895A>C (p.Asp632Ala)
n.1468A>C
c.6917A>C (p.Asp2306Ala)
c.6908A>C (p.Asp2303Ala)
c.6899A>C (p.Asp2300Ala)
c.6785A>C (p.Asp2262Ala)
c.6746-1343A>C (n.6746-1343A>C)
c.4769A>C (p.Asp1590Ala)
c.2459A>C (p.Asp820Ala)
n.7158A>C
18g.23907810A>GCA402053221LAMA3c.2063A>G (p.Asp688Gly)
c.6890A>G (p.Asp2297Gly)
c.3611-1343A>G (n.3611-1343A>G)
c.6722A>G (p.Asp2241Gly)
c.1668A>G
c.1895A>G (p.Asp632Gly)
n.1468A>G
c.6917A>G (p.Asp2306Gly)
c.6908A>G (p.Asp2303Gly)
c.6899A>G (p.Asp2300Gly)
c.6785A>G (p.Asp2262Gly)
c.6746-1343A>G (n.6746-1343A>G)
c.4769A>G (p.Asp1590Gly)
c.2459A>G (p.Asp820Gly)
n.7158A>G
18g.23907810A>TCA402053223LAMA3c.2063A>T (p.Asp688Val)
c.6890A>T (p.Asp2297Val)
c.3611-1343A>T (n.3611-1343A>T)
c.6722A>T (p.Asp2241Val)
c.1668A>T
c.1895A>T (p.Asp632Val)
n.1468A>T
c.6917A>T (p.Asp2306Val)
c.6908A>T (p.Asp2303Val)
c.6899A>T (p.Asp2300Val)
c.6785A>T (p.Asp2262Val)
c.6746-1343A>T (n.6746-1343A>T)
c.4769A>T (p.Asp1590Val)
c.2459A>T (p.Asp820Val)
n.7158A>T
18g.23907811C>ACA402053224LAMA3c.2064C>A (p.Asp688Glu)
c.6891C>A (p.Asp2297Glu)
c.3611-1342C>A (n.3611-1342C>A)
c.6723C>A (p.Asp2241Glu)
c.1669C>A
c.1896C>A (p.Asp632Glu)
n.1469C>A
c.6918C>A (p.Asp2306Glu)
c.6909C>A (p.Asp2303Glu)
c.6900C>A (p.Asp2300Glu)
c.6786C>A (p.Asp2262Glu)
c.6746-1342C>A (n.6746-1342C>A)
c.4770C>A (p.Asp1590Glu)
c.2460C>A (p.Asp820Glu)
n.7159C>A
18g.23907811C>GCA402053226LAMA3c.2064C>G (p.Asp688Glu)
c.6891C>G (p.Asp2297Glu)
c.3611-1342C>G (n.3611-1342C>G)
c.6723C>G (p.Asp2241Glu)
c.1669C>G
c.1896C>G (p.Asp632Glu)
n.1469C>G
c.6918C>G (p.Asp2306Glu)
c.6909C>G (p.Asp2303Glu)
c.6900C>G (p.Asp2300Glu)
c.6786C>G (p.Asp2262Glu)
c.6746-1342C>G (n.6746-1342C>G)
c.4770C>G (p.Asp1590Glu)
c.2460C>G (p.Asp820Glu)
n.7159C>G
 gnomAD v4
18g.23907811C>TCA503337489LAMA3c.2064C>T (p.Asp688=)
c.6891C>T (p.Asp2297=)
c.3611-1342C>T (n.3611-1342C>T)
c.6723C>T (p.Asp2241=)
c.1669C>T
c.1896C>T (p.Asp632=)
n.1469C>T
c.6918C>T (p.Asp2306=)
c.6909C>T (p.Asp2303=)
c.6900C>T (p.Asp2300=)
c.6786C>T (p.Asp2262=)
c.6746-1342C>T (n.6746-1342C>T)
c.4770C>T (p.Asp1590=)
c.2460C>T (p.Asp820=)
n.7159C>T
18g.23907812A=CA2290325992LAMA3c.2065A= (p.Ile689=)
c.6892A= (p.Ile2298=)
c.3611-1341A= (n.3611-1341A=)
c.6724A= (p.Ile2242=)
c.1670A=
c.1897A= (p.Ile633=)
n.1470A=
c.6919A= (p.Ile2307=)
c.6910A= (p.Ile2304=)
c.6901A= (p.Ile2301=)
c.6787A= (p.Ile2263=)
c.6746-1341A= (n.6746-1341A=)
c.4771A= (p.Ile1591=)
c.2461A= (p.Ile821=)
n.7160A=
18g.23907812A>CCA402053230LAMA3c.2065A>C (p.Ile689Leu)
c.6892A>C (p.Ile2298Leu)
c.3611-1341A>C (n.3611-1341A>C)
c.6724A>C (p.Ile2242Leu)
c.1670A>C
c.1897A>C (p.Ile633Leu)
n.1470A>C
c.6919A>C (p.Ile2307Leu)
c.6910A>C (p.Ile2304Leu)
c.6901A>C (p.Ile2301Leu)
c.6787A>C (p.Ile2263Leu)
c.6746-1341A>C (n.6746-1341A>C)
c.4771A>C (p.Ile1591Leu)
c.2461A>C (p.Ile821Leu)
n.7160A>C
 dbSNP gnomAD v4
18g.23907812A>GCA402053232LAMA3c.2065A>G (p.Ile689Val)
c.6892A>G (p.Ile2298Val)
c.3611-1341A>G (n.3611-1341A>G)
c.6724A>G (p.Ile2242Val)
c.1670A>G
c.1897A>G (p.Ile633Val)
n.1470A>G
c.6919A>G (p.Ile2307Val)
c.6910A>G (p.Ile2304Val)
c.6901A>G (p.Ile2301Val)
c.6787A>G (p.Ile2263Val)
c.6746-1341A>G (n.6746-1341A>G)
c.4771A>G (p.Ile1591Val)
c.2461A>G (p.Ile821Val)
n.7160A>G
 gnomAD v4
18g.23907812A>TCA402053229LAMA3c.2065A>T (p.Ile689Phe)
c.6892A>T (p.Ile2298Phe)
c.3611-1341A>T (n.3611-1341A>T)
c.6724A>T (p.Ile2242Phe)
c.1670A>T
c.1897A>T (p.Ile633Phe)
n.1470A>T
c.6919A>T (p.Ile2307Phe)
c.6910A>T (p.Ile2304Phe)
c.6901A>T (p.Ile2301Phe)
c.6787A>T (p.Ile2263Phe)
c.6746-1341A>T (n.6746-1341A>T)
c.4771A>T (p.Ile1591Phe)
c.2461A>T (p.Ile821Phe)
n.7160A>T
18g.23907813T>ACA402053235LAMA3c.2066T>A (p.Ile689Asn)
c.6893T>A (p.Ile2298Asn)
c.3611-1340T>A (n.3611-1340T>A)
c.6725T>A (p.Ile2242Asn)
c.1671T>A
c.1898T>A (p.Ile633Asn)
n.1471T>A
c.6920T>A (p.Ile2307Asn)
c.6911T>A (p.Ile2304Asn)
c.6902T>A (p.Ile2301Asn)
c.6788T>A (p.Ile2263Asn)
c.6746-1340T>A (n.6746-1340T>A)
c.4772T>A (p.Ile1591Asn)
c.2462T>A (p.Ile821Asn)
n.7161T>A
18g.23907813T>CCA402053236LAMA3c.2066T>C (p.Ile689Thr)
c.6893T>C (p.Ile2298Thr)
c.3611-1340T>C (n.3611-1340T>C)
c.6725T>C (p.Ile2242Thr)
c.1671T>C
c.1898T>C (p.Ile633Thr)
n.1471T>C
c.6920T>C (p.Ile2307Thr)
c.6911T>C (p.Ile2304Thr)
c.6902T>C (p.Ile2301Thr)
c.6788T>C (p.Ile2263Thr)
c.6746-1340T>C (n.6746-1340T>C)
c.4772T>C (p.Ile1591Thr)
c.2462T>C (p.Ile821Thr)
n.7161T>C
18g.23907813T>GCA402053238LAMA3c.2066T>G (p.Ile689Ser)
c.6893T>G (p.Ile2298Ser)
c.3611-1340T>G (n.3611-1340T>G)
c.6725T>G (p.Ile2242Ser)
c.1671T>G
c.1898T>G (p.Ile633Ser)
n.1471T>G
c.6920T>G (p.Ile2307Ser)
c.6911T>G (p.Ile2304Ser)
c.6902T>G (p.Ile2301Ser)
c.6788T>G (p.Ile2263Ser)
c.6746-1340T>G (n.6746-1340T>G)
c.4772T>G (p.Ile1591Ser)
c.2462T>G (p.Ile821Ser)
n.7161T>G
18g.23907814C>ACA503337490LAMA3c.2067C>A (p.Ile689=)
c.6894C>A (p.Ile2298=)
c.3611-1339C>A (n.3611-1339C>A)
c.6726C>A (p.Ile2242=)
c.1672C>A
c.1899C>A (p.Ile633=)
n.1472C>A
c.6921C>A (p.Ile2307=)
c.6912C>A (p.Ile2304=)
c.6903C>A (p.Ile2301=)
c.6789C>A (p.Ile2263=)
c.6746-1339C>A (n.6746-1339C>A)
c.4773C>A (p.Ile1591=)
c.2463C>A (p.Ile821=)
n.7162C>A
18g.23907814C=CA2290325993LAMA3c.2067C= (p.Ile689=)
c.6894C= (p.Ile2298=)
c.3611-1339C= (n.3611-1339C=)
c.6726C= (p.Ile2242=)
c.1672C=
c.1899C= (p.Ile633=)
n.1472C=
c.6921C= (p.Ile2307=)
c.6912C= (p.Ile2304=)
c.6903C= (p.Ile2301=)
c.6789C= (p.Ile2263=)
c.6746-1339C= (n.6746-1339C=)
c.4773C= (p.Ile1591=)
c.2463C= (p.Ile821=)
n.7162C=
18g.23907814C>GCA402053239LAMA3c.2067C>G (p.Ile689Met)
c.6894C>G (p.Ile2298Met)
c.3611-1339C>G (n.3611-1339C>G)
c.6726C>G (p.Ile2242Met)
c.1672C>G
c.1899C>G (p.Ile633Met)
n.1472C>G
c.6921C>G (p.Ile2307Met)
c.6912C>G (p.Ile2304Met)
c.6903C>G (p.Ile2301Met)
c.6789C>G (p.Ile2263Met)
c.6746-1339C>G (n.6746-1339C>G)
c.4773C>G (p.Ile1591Met)
c.2463C>G (p.Ile821Met)
n.7162C>G
 dbSNP
18g.23907814C>TCA503337491LAMA3c.2067C>T (p.Ile689=)
c.6894C>T (p.Ile2298=)
c.3611-1339C>T (n.3611-1339C>T)
c.6726C>T (p.Ile2242=)
c.1672C>T
c.1899C>T (p.Ile633=)
n.1472C>T
c.6921C>T (p.Ile2307=)
c.6912C>T (p.Ile2304=)
c.6903C>T (p.Ile2301=)
c.6789C>T (p.Ile2263=)
c.6746-1339C>T (n.6746-1339C>T)
c.4773C>T (p.Ile1591=)
c.2463C>T (p.Ile821=)
n.7162C>T
18g.23907815A>CCA402053242LAMA3c.2068A>C (p.Thr690Pro)
c.6895A>C (p.Thr2299Pro)
c.3611-1338A>C (n.3611-1338A>C)
c.6727A>C (p.Thr2243Pro)
c.1673A>C
c.1900A>C (p.Thr634Pro)
n.1473A>C
c.6922A>C (p.Thr2308Pro)
c.6913A>C (p.Thr2305Pro)
c.6904A>C (p.Thr2302Pro)
c.6790A>C (p.Thr2264Pro)
c.6746-1338A>C (n.6746-1338A>C)
c.4774A>C (p.Thr1592Pro)
c.2464A>C (p.Thr822Pro)
n.7163A>C
18g.23907815A>GCA402053244LAMA3c.2068A>G (p.Thr690Ala)
c.6895A>G (p.Thr2299Ala)
c.3611-1338A>G (n.3611-1338A>G)
c.6727A>G (p.Thr2243Ala)
c.1673A>G
c.1900A>G (p.Thr634Ala)
n.1473A>G
c.6922A>G (p.Thr2308Ala)
c.6913A>G (p.Thr2305Ala)
c.6904A>G (p.Thr2302Ala)
c.6790A>G (p.Thr2264Ala)
c.6746-1338A>G (n.6746-1338A>G)
c.4774A>G (p.Thr1592Ala)
c.2464A>G (p.Thr822Ala)
n.7163A>G
 gnomAD v4
18g.23907815A>TCA402053245LAMA3c.2068A>T (p.Thr690Ser)
c.6895A>T (p.Thr2299Ser)
c.3611-1338A>T (n.3611-1338A>T)
c.6727A>T (p.Thr2243Ser)
c.1673A>T
c.1900A>T (p.Thr634Ser)
n.1473A>T
c.6922A>T (p.Thr2308Ser)
c.6913A>T (p.Thr2305Ser)
c.6904A>T (p.Thr2302Ser)
c.6790A>T (p.Thr2264Ser)
c.6746-1338A>T (n.6746-1338A>T)
c.4774A>T (p.Thr1592Ser)
c.2464A>T (p.Thr822Ser)
n.7163A>T
18g.23907816C>ACA402053248LAMA3c.2069C>A (p.Thr690Lys)
c.6896C>A (p.Thr2299Lys)
c.3611-1337C>A (n.3611-1337C>A)
c.6728C>A (p.Thr2243Lys)
c.1674C>A
c.1901C>A (p.Thr634Lys)
n.1474C>A
c.6923C>A (p.Thr2308Lys)
c.6914C>A (p.Thr2305Lys)
c.6905C>A (p.Thr2302Lys)
c.6791C>A (p.Thr2264Lys)
c.6746-1337C>A (n.6746-1337C>A)
c.4775C>A (p.Thr1592Lys)
c.2465C>A (p.Thr822Lys)
n.7164C>A
18g.23907816C>GCA402053250LAMA3c.2069C>G (p.Thr690Arg)
c.6896C>G (p.Thr2299Arg)
c.3611-1337C>G (n.3611-1337C>G)
c.6728C>G (p.Thr2243Arg)
c.1674C>G
c.1901C>G (p.Thr634Arg)
n.1474C>G
c.6923C>G (p.Thr2308Arg)
c.6914C>G (p.Thr2305Arg)
c.6905C>G (p.Thr2302Arg)
c.6791C>G (p.Thr2264Arg)
c.6746-1337C>G (n.6746-1337C>G)
c.4775C>G (p.Thr1592Arg)
c.2465C>G (p.Thr822Arg)
n.7164C>G
18g.23907816C>TCA402053251LAMA3c.2069C>T (p.Thr690Ile)
c.6896C>T (p.Thr2299Ile)
c.3611-1337C>T (n.3611-1337C>T)
c.6728C>T (p.Thr2243Ile)
c.1674C>T
c.1901C>T (p.Thr634Ile)
n.1474C>T
c.6923C>T (p.Thr2308Ile)
c.6914C>T (p.Thr2305Ile)
c.6905C>T (p.Thr2302Ile)
c.6791C>T (p.Thr2264Ile)
c.6746-1337C>T (n.6746-1337C>T)
c.4775C>T (p.Thr1592Ile)
c.2465C>T (p.Thr822Ile)
n.7164C>T
18g.23907817A>CCA503337492LAMA3c.2070A>C (p.Thr690=)
c.6897A>C (p.Thr2299=)
c.3611-1336A>C (n.3611-1336A>C)
c.6729A>C (p.Thr2243=)
c.1675A>C
c.1902A>C (p.Thr634=)
n.1475A>C
c.6924A>C (p.Thr2308=)
c.6915A>C (p.Thr2305=)
c.6906A>C (p.Thr2302=)
c.6792A>C (p.Thr2264=)
c.6746-1336A>C (n.6746-1336A>C)
c.4776A>C (p.Thr1592=)
c.2466A>C (p.Thr822=)
n.7165A>C
18g.23907817A>GCA503337493LAMA3c.2070A>G (p.Thr690=)
c.6897A>G (p.Thr2299=)
c.3611-1336A>G (n.3611-1336A>G)
c.6729A>G (p.Thr2243=)
c.1675A>G
c.1902A>G (p.Thr634=)
n.1475A>G
c.6924A>G (p.Thr2308=)
c.6915A>G (p.Thr2305=)
c.6906A>G (p.Thr2302=)
c.6792A>G (p.Thr2264=)
c.6746-1336A>G (n.6746-1336A>G)
c.4776A>G (p.Thr1592=)
c.2466A>G (p.Thr822=)
n.7165A>G
18g.23907817A>TCA503337494LAMA3c.2070A>T (p.Thr690=)
c.6897A>T (p.Thr2299=)
c.3611-1336A>T (n.3611-1336A>T)
c.6729A>T (p.Thr2243=)
c.1675A>T
c.1902A>T (p.Thr634=)
n.1475A>T
c.6924A>T (p.Thr2308=)
c.6915A>T (p.Thr2305=)
c.6906A>T (p.Thr2302=)
c.6792A>T (p.Thr2264=)
c.6746-1336A>T (n.6746-1336A>T)
c.4776A>T (p.Thr1592=)
c.2466A>T (p.Thr822=)
n.7165A>T
18g.23907818G>ACA402053254LAMA3c.2071G>A (p.Asp691Asn)
c.6898G>A (p.Asp2300Asn)
c.3611-1335G>A (n.3611-1335G>A)
c.6730G>A (p.Asp2244Asn)
c.1676G>A
c.1903G>A (p.Asp635Asn)
n.1476G>A
c.6925G>A (p.Asp2309Asn)
c.6916G>A (p.Asp2306Asn)
c.6907G>A (p.Asp2303Asn)
c.6793G>A (p.Asp2265Asn)
c.6746-1335G>A (n.6746-1335G>A)
c.4777G>A (p.Asp1593Asn)
c.2467G>A (p.Asp823Asn)
n.7166G>A
18g.23907818G>CCA402053255LAMA3c.2071G>C (p.Asp691His)
c.6898G>C (p.Asp2300His)
c.3611-1335G>C (n.3611-1335G>C)
c.6730G>C (p.Asp2244His)
c.1676G>C
c.1903G>C (p.Asp635His)
n.1476G>C
c.6925G>C (p.Asp2309His)
c.6916G>C (p.Asp2306His)
c.6907G>C (p.Asp2303His)
c.6793G>C (p.Asp2265His)
c.6746-1335G>C (n.6746-1335G>C)
c.4777G>C (p.Asp1593His)
c.2467G>C (p.Asp823His)
n.7166G>C
18g.23907818G>TCA402053257LAMA3c.2071G>T (p.Asp691Tyr)
c.6898G>T (p.Asp2300Tyr)
c.3611-1335G>T (n.3611-1335G>T)
c.6730G>T (p.Asp2244Tyr)
c.1676G>T
c.1903G>T (p.Asp635Tyr)
n.1476G>T
c.6925G>T (p.Asp2309Tyr)
c.6916G>T (p.Asp2306Tyr)
c.6907G>T (p.Asp2303Tyr)
c.6793G>T (p.Asp2265Tyr)
c.6746-1335G>T (n.6746-1335G>T)
c.4777G>T (p.Asp1593Tyr)
c.2467G>T (p.Asp823Tyr)
n.7166G>T
18g.23907819A=CA2290325994LAMA3c.2072A= (p.Asp691=)
c.6899A= (p.Asp2300=)
c.3611-1334A= (n.3611-1334A=)
c.6731A= (p.Asp2244=)
c.1677A=
c.1904A= (p.Asp635=)
n.1477A=
c.6926A= (p.Asp2309=)
c.6917A= (p.Asp2306=)
c.6908A= (p.Asp2303=)
c.6794A= (p.Asp2265=)
c.6746-1334A= (n.6746-1334A=)
c.4778A= (p.Asp1593=)
c.2468A= (p.Asp823=)
n.7167A=
18g.23907819A>CCA402053262LAMA3c.2072A>C (p.Asp691Ala)
c.6899A>C (p.Asp2300Ala)
c.3611-1334A>C (n.3611-1334A>C)
c.6731A>C (p.Asp2244Ala)
c.1677A>C
c.1904A>C (p.Asp635Ala)
n.1477A>C
c.6926A>C (p.Asp2309Ala)
c.6917A>C (p.Asp2306Ala)
c.6908A>C (p.Asp2303Ala)
c.6794A>C (p.Asp2265Ala)
c.6746-1334A>C (n.6746-1334A>C)
c.4778A>C (p.Asp1593Ala)
c.2468A>C (p.Asp823Ala)
n.7167A>C
18g.23907819A>GCA8916514LAMA3c.2072A>G (p.Asp691Gly)
c.6899A>G (p.Asp2300Gly)
c.3611-1334A>G (n.3611-1334A>G)
c.6731A>G (p.Asp2244Gly)
c.1677A>G
c.1904A>G (p.Asp635Gly)
n.1477A>G
c.6926A>G (p.Asp2309Gly)
c.6917A>G (p.Asp2306Gly)
c.6908A>G (p.Asp2303Gly)
c.6794A>G (p.Asp2265Gly)
c.6746-1334A>G (n.6746-1334A>G)
c.4778A>G (p.Asp1593Gly)
c.2468A>G (p.Asp823Gly)
n.7167A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.23907819A>TCA402053260LAMA3c.2072A>T (p.Asp691Val)
c.6899A>T (p.Asp2300Val)
c.3611-1334A>T (n.3611-1334A>T)
c.6731A>T (p.Asp2244Val)
c.1677A>T
c.1904A>T (p.Asp635Val)
n.1477A>T
c.6926A>T (p.Asp2309Val)
c.6917A>T (p.Asp2306Val)
c.6908A>T (p.Asp2303Val)
c.6794A>T (p.Asp2265Val)
c.6746-1334A>T (n.6746-1334A>T)
c.4778A>T (p.Asp1593Val)
c.2468A>T (p.Asp823Val)
n.7167A>T
 gnomAD v4
18g.23907820T>ACA402053264LAMA3c.2073T>A (p.Asp691Glu)
c.6900T>A (p.Asp2300Glu)
c.3611-1333T>A (n.3611-1333T>A)
c.6732T>A (p.Asp2244Glu)
c.1678T>A
c.1905T>A (p.Asp635Glu)
n.1478T>A
c.6927T>A (p.Asp2309Glu)
c.6918T>A (p.Asp2306Glu)
c.6909T>A (p.Asp2303Glu)
c.6795T>A (p.Asp2265Glu)
c.6746-1333T>A (n.6746-1333T>A)
c.4779T>A (p.Asp1593Glu)
c.2469T>A (p.Asp823Glu)
n.7168T>A
18g.23907820T>CCA503337495LAMA3c.2073T>C (p.Asp691=)
c.6900T>C (p.Asp2300=)
c.3611-1333T>C (n.3611-1333T>C)
c.6732T>C (p.Asp2244=)
c.1678T>C
c.1905T>C (p.Asp635=)
n.1478T>C
c.6927T>C (p.Asp2309=)
c.6918T>C (p.Asp2306=)
c.6909T>C (p.Asp2303=)
c.6795T>C (p.Asp2265=)
c.6746-1333T>C (n.6746-1333T>C)
c.4779T>C (p.Asp1593=)
c.2469T>C (p.Asp823=)
n.7168T>C
18g.23907820T>GCA402053265LAMA3c.2073T>G (p.Asp691Glu)
c.6900T>G (p.Asp2300Glu)
c.3611-1333T>G (n.3611-1333T>G)
c.6732T>G (p.Asp2244Glu)
c.1678T>G
c.1905T>G (p.Asp635Glu)
n.1478T>G
c.6927T>G (p.Asp2309Glu)
c.6918T>G (p.Asp2306Glu)
c.6909T>G (p.Asp2303Glu)
c.6795T>G (p.Asp2265Glu)
c.6746-1333T>G (n.6746-1333T>G)
c.4779T>G (p.Asp1593Glu)
c.2469T>G (p.Asp823Glu)
n.7168T>G
18g.23907821G>ACA402053267LAMA3c.2074G>A (p.Glu692Lys)
c.6901G>A (p.Glu2301Lys)
c.3611-1332G>A (n.3611-1332G>A)
c.6733G>A (p.Glu2245Lys)
c.1679G>A
c.1906G>A (p.Glu636Lys)
n.1479G>A
c.6928G>A (p.Glu2310Lys)
c.6919G>A (p.Glu2307Lys)
c.6910G>A (p.Glu2304Lys)
c.6796G>A (p.Glu2266Lys)
c.6746-1332G>A (n.6746-1332G>A)
c.4780G>A (p.Glu1594Lys)
c.2470G>A (p.Glu824Lys)
n.7169G>A
18g.23907821G>CCA402053268LAMA3c.2074G>C (p.Glu692Gln)
c.6901G>C (p.Glu2301Gln)
c.3611-1332G>C (n.3611-1332G>C)
c.6733G>C (p.Glu2245Gln)
c.1679G>C
c.1906G>C (p.Glu636Gln)
n.1479G>C
c.6928G>C (p.Glu2310Gln)
c.6919G>C (p.Glu2307Gln)
c.6910G>C (p.Glu2304Gln)
c.6796G>C (p.Glu2266Gln)
c.6746-1332G>C (n.6746-1332G>C)
c.4780G>C (p.Glu1594Gln)
c.2470G>C (p.Glu824Gln)
n.7169G>C
18g.23907821G>TCA402053270LAMA3c.2074G>T (p.Glu692Ter)
c.6901G>T (p.Glu2301Ter)
c.3611-1332G>T (n.3611-1332G>T)
c.6733G>T (p.Glu2245Ter)
c.1679G>T
c.1906G>T (p.Glu636Ter)
n.1479G>T
c.6928G>T (p.Glu2310Ter)
c.6919G>T (p.Glu2307Ter)
c.6910G>T (p.Glu2304Ter)
c.6796G>T (p.Glu2266Ter)
c.6746-1332G>T (n.6746-1332G>T)
c.4780G>T (p.Glu1594Ter)
c.2470G>T (p.Glu824Ter)
n.7169G>T
18g.23907822A>CCA402053272LAMA3c.2075A>C (p.Glu692Ala)
c.6902A>C (p.Glu2301Ala)
c.3611-1331A>C (n.3611-1331A>C)
c.6734A>C (p.Glu2245Ala)
c.1680A>C
c.1907A>C (p.Glu636Ala)
n.1480A>C
c.6929A>C (p.Glu2310Ala)
c.6920A>C (p.Glu2307Ala)
c.6911A>C (p.Glu2304Ala)
c.6797A>C (p.Glu2266Ala)
c.6746-1331A>C (n.6746-1331A>C)
c.4781A>C (p.Glu1594Ala)
c.2471A>C (p.Glu824Ala)
n.7170A>C
18g.23907822A>GCA402053273LAMA3c.2075A>G (p.Glu692Gly)
c.6902A>G (p.Glu2301Gly)
c.3611-1331A>G (n.3611-1331A>G)
c.6734A>G (p.Glu2245Gly)
c.1680A>G
c.1907A>G (p.Glu636Gly)
n.1480A>G
c.6929A>G (p.Glu2310Gly)
c.6920A>G (p.Glu2307Gly)
c.6911A>G (p.Glu2304Gly)
c.6797A>G (p.Glu2266Gly)
c.6746-1331A>G (n.6746-1331A>G)
c.4781A>G (p.Glu1594Gly)
c.2471A>G (p.Glu824Gly)
n.7170A>G
18g.23907822A>TCA402053276LAMA3c.2075A>T (p.Glu692Val)
c.6902A>T (p.Glu2301Val)
c.3611-1331A>T (n.3611-1331A>T)
c.6734A>T (p.Glu2245Val)
c.1680A>T
c.1907A>T (p.Glu636Val)
n.1480A>T
c.6929A>T (p.Glu2310Val)
c.6920A>T (p.Glu2307Val)
c.6911A>T (p.Glu2304Val)
c.6797A>T (p.Glu2266Val)
c.6746-1331A>T (n.6746-1331A>T)
c.4781A>T (p.Glu1594Val)
c.2471A>T (p.Glu824Val)
n.7170A>T
18g.23907823G>ACA503337496LAMA3c.2076G>A (p.Glu692=)
c.6903G>A (p.Glu2301=)
c.3611-1330G>A (n.3611-1330G>A)
c.6735G>A (p.Glu2245=)
c.1681G>A
c.1908G>A (p.Glu636=)
n.1481G>A
c.6930G>A (p.Glu2310=)
c.6921G>A (p.Glu2307=)
c.6912G>A (p.Glu2304=)
c.6798G>A (p.Glu2266=)
c.6746-1330G>A (n.6746-1330G>A)
c.4782G>A (p.Glu1594=)
c.2472G>A (p.Glu824=)
n.7171G>A
18g.23907823G>CCA402053278LAMA3c.2076G>C (p.Glu692Asp)
c.6903G>C (p.Glu2301Asp)
c.3611-1330G>C (n.3611-1330G>C)
c.6735G>C (p.Glu2245Asp)
c.1681G>C
c.1908G>C (p.Glu636Asp)
n.1481G>C
c.6930G>C (p.Glu2310Asp)
c.6921G>C (p.Glu2307Asp)
c.6912G>C (p.Glu2304Asp)
c.6798G>C (p.Glu2266Asp)
c.6746-1330G>C (n.6746-1330G>C)
c.4782G>C (p.Glu1594Asp)
c.2472G>C (p.Glu824Asp)
n.7171G>C
18g.23907823G>TCA402053279LAMA3c.2076G>T (p.Glu692Asp)
c.6903G>T (p.Glu2301Asp)
c.3611-1330G>T (n.3611-1330G>T)
c.6735G>T (p.Glu2245Asp)
c.1681G>T
c.1908G>T (p.Glu636Asp)
n.1481G>T
c.6930G>T (p.Glu2310Asp)
c.6921G>T (p.Glu2307Asp)
c.6912G>T (p.Glu2304Asp)
c.6798G>T (p.Glu2266Asp)
c.6746-1330G>T (n.6746-1330G>T)
c.4782G>T (p.Glu1594Asp)
c.2472G>T (p.Glu824Asp)
n.7171G>T
18g.23907824G>ACA402053281LAMA3c.2077G>A (p.Val693Ile)
c.6904G>A (p.Val2302Ile)
c.3611-1329G>A (n.3611-1329G>A)
c.6736G>A (p.Val2246Ile)
c.1682G>A
c.1909G>A (p.Val637Ile)
n.1482G>A
c.6931G>A (p.Val2311Ile)
c.6922G>A (p.Val2308Ile)
c.6913G>A (p.Val2305Ile)
c.6799G>A (p.Val2267Ile)
c.6746-1329G>A (n.6746-1329G>A)
c.4783G>A (p.Val1595Ile)
c.2473G>A (p.Val825Ile)
n.7172G>A
18g.23907824G>CCA402053283LAMA3c.2077G>C (p.Val693Leu)
c.6904G>C (p.Val2302Leu)
c.3611-1329G>C (n.3611-1329G>C)
c.6736G>C (p.Val2246Leu)
c.1682G>C
c.1909G>C (p.Val637Leu)
n.1482G>C
c.6931G>C (p.Val2311Leu)
c.6922G>C (p.Val2308Leu)
c.6913G>C (p.Val2305Leu)
c.6799G>C (p.Val2267Leu)
c.6746-1329G>C (n.6746-1329G>C)
c.4783G>C (p.Val1595Leu)
c.2473G>C (p.Val825Leu)
n.7172G>C
18g.23907824G=CA2290325995LAMA3c.2077G= (p.Val693=)
c.6904G= (p.Val2302=)
c.3611-1329G= (n.3611-1329G=)
c.6736G= (p.Val2246=)
c.1682G=
c.1909G= (p.Val637=)
n.1482G=
c.6931G= (p.Val2311=)
c.6922G= (p.Val2308=)
c.6913G= (p.Val2305=)
c.6799G= (p.Val2267=)
c.6746-1329G= (n.6746-1329G=)
c.4783G= (p.Val1595=)
c.2473G= (p.Val825=)
n.7172G=
18g.23907824G>TCA402053284LAMA3c.2077G>T (p.Val693Phe)
c.6904G>T (p.Val2302Phe)
c.3611-1329G>T (n.3611-1329G>T)
c.6736G>T (p.Val2246Phe)
c.1682G>T
c.1909G>T (p.Val637Phe)
n.1482G>T
c.6931G>T (p.Val2311Phe)
c.6922G>T (p.Val2308Phe)
c.6913G>T (p.Val2305Phe)
c.6799G>T (p.Val2267Phe)
c.6746-1329G>T (n.6746-1329G>T)
c.4783G>T (p.Val1595Phe)
c.2473G>T (p.Val825Phe)
n.7172G>T
 dbSNP
18g.23907825T>ACA402053290LAMA3c.2078T>A (p.Val693Asp)
c.6905T>A (p.Val2302Asp)
c.3611-1328T>A (n.3611-1328T>A)
c.6737T>A (p.Val2246Asp)
c.1683T>A
c.1910T>A (p.Val637Asp)
n.1483T>A
c.6932T>A (p.Val2311Asp)
c.6923T>A (p.Val2308Asp)
c.6914T>A (p.Val2305Asp)
c.6800T>A (p.Val2267Asp)
c.6746-1328T>A (n.6746-1328T>A)
c.4784T>A (p.Val1595Asp)
c.2474T>A (p.Val825Asp)
n.7173T>A
18g.23907825T>CCA402053288LAMA3c.2078T>C (p.Val693Ala)
c.6905T>C (p.Val2302Ala)
c.3611-1328T>C (n.3611-1328T>C)
c.6737T>C (p.Val2246Ala)
c.1683T>C
c.1910T>C (p.Val637Ala)
n.1483T>C
c.6932T>C (p.Val2311Ala)
c.6923T>C (p.Val2308Ala)
c.6914T>C (p.Val2305Ala)
c.6800T>C (p.Val2267Ala)
c.6746-1328T>C (n.6746-1328T>C)
c.4784T>C (p.Val1595Ala)
c.2474T>C (p.Val825Ala)
n.7173T>C
18g.23907825T>GCA402053286LAMA3c.2078T>G (p.Val693Gly)
c.6905T>G (p.Val2302Gly)
c.3611-1328T>G (n.3611-1328T>G)
c.6737T>G (p.Val2246Gly)
c.1683T>G
c.1910T>G (p.Val637Gly)
n.1483T>G
c.6932T>G (p.Val2311Gly)
c.6923T>G (p.Val2308Gly)
c.6914T>G (p.Val2305Gly)
c.6800T>G (p.Val2267Gly)
c.6746-1328T>G (n.6746-1328T>G)
c.4784T>G (p.Val1595Gly)
c.2474T>G (p.Val825Gly)
n.7173T>G
18g.23907826T>ACA503337497LAMA3c.2079T>A (p.Val693=)
c.6906T>A (p.Val2302=)
c.3611-1327T>A (n.3611-1327T>A)
c.6738T>A (p.Val2246=)
c.1684T>A
c.1911T>A (p.Val637=)
n.1484T>A
c.6933T>A (p.Val2311=)
c.6924T>A (p.Val2308=)
c.6915T>A (p.Val2305=)
c.6801T>A (p.Val2267=)
c.6746-1327T>A (n.6746-1327T>A)
c.4785T>A (p.Val1595=)
c.2475T>A (p.Val825=)
n.7174T>A
18g.23907826T>CCA503337499LAMA3c.2079T>C (p.Val693=)
c.6906T>C (p.Val2302=)
c.3611-1327T>C (n.3611-1327T>C)
c.6738T>C (p.Val2246=)
c.1684T>C
c.1911T>C (p.Val637=)
n.1484T>C
c.6933T>C (p.Val2311=)
c.6924T>C (p.Val2308=)
c.6915T>C (p.Val2305=)
c.6801T>C (p.Val2267=)
c.6746-1327T>C (n.6746-1327T>C)
c.4785T>C (p.Val1595=)
c.2475T>C (p.Val825=)
n.7174T>C
18g.23907826T>GCA503337498LAMA3c.2079T>G (p.Val693=)
c.6906T>G (p.Val2302=)
c.3611-1327T>G (n.3611-1327T>G)
c.6738T>G (p.Val2246=)
c.1684T>G
c.1911T>G (p.Val637=)
n.1484T>G
c.6933T>G (p.Val2311=)
c.6924T>G (p.Val2308=)
c.6915T>G (p.Val2305=)
c.6801T>G (p.Val2267=)
c.6746-1327T>G (n.6746-1327T>G)
c.4785T>G (p.Val1595=)
c.2475T>G (p.Val825=)
n.7174T>G
18g.23907827C>ACA402053294LAMA3c.2080C>A (p.Leu694Met)
c.6907C>A (p.Leu2303Met)
c.3611-1326C>A (n.3611-1326C>A)
c.6739C>A (p.Leu2247Met)
c.1685C>A
c.1912C>A (p.Leu638Met)
n.1485C>A
c.6934C>A (p.Leu2312Met)
c.6925C>A (p.Leu2309Met)
c.6916C>A (p.Leu2306Met)
c.6802C>A (p.Leu2268Met)
c.6746-1326C>A (n.6746-1326C>A)
c.4786C>A (p.Leu1596Met)
c.2476C>A (p.Leu826Met)
n.7175C>A
18g.23907827C>GCA402053292LAMA3c.2080C>G (p.Leu694Val)
c.6907C>G (p.Leu2303Val)
c.3611-1326C>G (n.3611-1326C>G)
c.6739C>G (p.Leu2247Val)
c.1685C>G
c.1912C>G (p.Leu638Val)
n.1485C>G
c.6934C>G (p.Leu2312Val)
c.6925C>G (p.Leu2309Val)
c.6916C>G (p.Leu2306Val)
c.6802C>G (p.Leu2268Val)
c.6746-1326C>G (n.6746-1326C>G)
c.4786C>G (p.Leu1596Val)
c.2476C>G (p.Leu826Val)
n.7175C>G
18g.23907827C>TCA503337500LAMA3c.2080C>T (p.Leu694=)
c.6907C>T (p.Leu2303=)
c.3611-1326C>T (n.3611-1326C>T)
c.6739C>T (p.Leu2247=)
c.1685C>T
c.1912C>T (p.Leu638=)
n.1485C>T
c.6934C>T (p.Leu2312=)
c.6925C>T (p.Leu2309=)
c.6916C>T (p.Leu2306=)
c.6802C>T (p.Leu2268=)
c.6746-1326C>T (n.6746-1326C>T)
c.4786C>T (p.Leu1596=)
c.2476C>T (p.Leu826=)
n.7175C>T
18g.23907828T>ACA402053299LAMA3c.2081T>A (p.Leu694Gln)
c.6908T>A (p.Leu2303Gln)
c.3611-1325T>A (n.3611-1325T>A)
c.6740T>A (p.Leu2247Gln)
c.1686T>A
c.1913T>A (p.Leu638Gln)
n.1486T>A
c.6935T>A (p.Leu2312Gln)
c.6926T>A (p.Leu2309Gln)
c.6917T>A (p.Leu2306Gln)
c.6803T>A (p.Leu2268Gln)
c.6746-1325T>A (n.6746-1325T>A)
c.4787T>A (p.Leu1596Gln)
c.2477T>A (p.Leu826Gln)
n.7176T>A
18g.23907828T>CCA402053296LAMA3c.2081T>C (p.Leu694Pro)
c.6908T>C (p.Leu2303Pro)
c.3611-1325T>C (n.3611-1325T>C)
c.6740T>C (p.Leu2247Pro)
c.1686T>C
c.1913T>C (p.Leu638Pro)
n.1486T>C
c.6935T>C (p.Leu2312Pro)
c.6926T>C (p.Leu2309Pro)
c.6917T>C (p.Leu2306Pro)
c.6803T>C (p.Leu2268Pro)
c.6746-1325T>C (n.6746-1325T>C)
c.4787T>C (p.Leu1596Pro)
c.2477T>C (p.Leu826Pro)
n.7176T>C
18g.23907828T>GCA402053298LAMA3c.2081T>G (p.Leu694Arg)
c.6908T>G (p.Leu2303Arg)
c.3611-1325T>G (n.3611-1325T>G)
c.6740T>G (p.Leu2247Arg)
c.1686T>G
c.1913T>G (p.Leu638Arg)
n.1486T>G
c.6935T>G (p.Leu2312Arg)
c.6926T>G (p.Leu2309Arg)
c.6917T>G (p.Leu2306Arg)
c.6803T>G (p.Leu2268Arg)
c.6746-1325T>G (n.6746-1325T>G)
c.4787T>G (p.Leu1596Arg)
c.2477T>G (p.Leu826Arg)
n.7176T>G
18g.23907829G>ACA503337503LAMA3c.2082G>A (p.Leu694=)
c.6909G>A (p.Leu2303=)
c.3611-1324G>A (n.3611-1324G>A)
c.6741G>A (p.Leu2247=)
c.1687G>A
c.1914G>A (p.Leu638=)
n.1487G>A
c.6936G>A (p.Leu2312=)
c.6927G>A (p.Leu2309=)
c.6918G>A (p.Leu2306=)
c.6804G>A (p.Leu2268=)
c.6746-1324G>A (n.6746-1324G>A)
c.4788G>A (p.Leu1596=)
c.2478G>A (p.Leu826=)
n.7177G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.23907829G>CCA503337502LAMA3c.2082G>C (p.Leu694=)
c.6909G>C (p.Leu2303=)
c.3611-1324G>C (n.3611-1324G>C)
c.6741G>C (p.Leu2247=)
c.1687G>C
c.1914G>C (p.Leu638=)
n.1487G>C
c.6936G>C (p.Leu2312=)
c.6927G>C (p.Leu2309=)
c.6918G>C (p.Leu2306=)
c.6804G>C (p.Leu2268=)
c.6746-1324G>C (n.6746-1324G>C)
c.4788G>C (p.Leu1596=)
c.2478G>C (p.Leu826=)
n.7177G>C
18g.23907829G=CA2290325996LAMA3c.2082G= (p.Leu694=)
c.6909G= (p.Leu2303=)
c.3611-1324G= (n.3611-1324G=)
c.6741G= (p.Leu2247=)
c.1687G=
c.1914G= (p.Leu638=)
n.1487G=
c.6936G= (p.Leu2312=)
c.6927G= (p.Leu2309=)
c.6918G= (p.Leu2306=)
c.6804G= (p.Leu2268=)
c.6746-1324G= (n.6746-1324G=)
c.4788G= (p.Leu1596=)
c.2478G= (p.Leu826=)
n.7177G=
18g.23907829G>TCA503337501LAMA3c.2082G>T (p.Leu694=)
c.6909G>T (p.Leu2303=)
c.3611-1324G>T (n.3611-1324G>T)
c.6741G>T (p.Leu2247=)
c.1687G>T
c.1914G>T (p.Leu638=)
n.1487G>T
c.6936G>T (p.Leu2312=)
c.6927G>T (p.Leu2309=)
c.6918G>T (p.Leu2306=)
c.6804G>T (p.Leu2268=)
c.6746-1324G>T (n.6746-1324G>T)
c.4788G>T (p.Leu1596=)
c.2478G>T (p.Leu826=)
n.7177G>T
 COSMIC COSMIC
18g.23907829_23907853delinsGGATGGGCTCAACCCCATCCAGACACA2290325997LAMA3c.2082_2106delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu694=)
c.6909_6933delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu2303=)
c.3611-1324_3611-1300delinsGGATGGGCTCAACCCCATCCAGACA (n.3611-1324_3611-1300delinsGGATGGGCTCAACCCCATCCAGACA)
c.6741_6765delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu2247=)
c.1687_1711delinsGGATGGGCTCAACCCCATCCAGACA
c.1914_1938delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu638=)
n.1487_1511delinsGGATGGGCTCAACCCCATCCAGACA
c.6936_6960delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu2312=)
c.6927_6951delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu2309=)
c.6918_6942delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu2306=)
c.6804_6828delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu2268=)
c.6746-1324_6746-1300delinsGGATGGGCTCAACCCCATCCAGACA (n.6746-1324_6746-1300delinsGGATGGGCTCAACCCCATCCAGACA)
c.4788_4812delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu1596=)
c.2478_2502delinsGGATGGGCTCAACCCCATCCAGACA (p.Leu826=)
n.7177_7201delinsGGATGGGCTCAACCCCATCCAGACA
18g.23907830G>ACA402053302LAMA3c.2083G>A (p.Asp695Asn)
c.6910G>A (p.Asp2304Asn)
c.3611-1323G>A (n.3611-1323G>A)
c.6742G>A (p.Asp2248Asn)
c.1688G>A
c.1915G>A (p.Asp639Asn)
n.1488G>A
c.6937G>A (p.Asp2313Asn)
c.6928G>A (p.Asp2310Asn)
c.6919G>A (p.Asp2307Asn)
c.6805G>A (p.Asp2269Asn)
c.6746-1323G>A (n.6746-1323G>A)
c.4789G>A (p.Asp1597Asn)
c.2479G>A (p.Asp827Asn)
n.7178G>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.23907830G>CCA402053303LAMA3c.2083G>C (p.Asp695His)
c.6910G>C (p.Asp2304His)
c.3611-1323G>C (n.3611-1323G>C)
c.6742G>C (p.Asp2248His)
c.1688G>C
c.1915G>C (p.Asp639His)
n.1488G>C
c.6937G>C (p.Asp2313His)
c.6928G>C (p.Asp2310His)
c.6919G>C (p.Asp2307His)
c.6805G>C (p.Asp2269His)
c.6746-1323G>C (n.6746-1323G>C)
c.4789G>C (p.Asp1597His)
c.2479G>C (p.Asp827His)
n.7178G>C
18g.23907830G=CA2290325998LAMA3c.2083G= (p.Asp695=)
c.6910G= (p.Asp2304=)
c.3611-1323G= (n.3611-1323G=)
c.6742G= (p.Asp2248=)
c.1688G=
c.1915G= (p.Asp639=)
n.1488G=
c.6937G= (p.Asp2313=)
c.6928G= (p.Asp2310=)
c.6919G= (p.Asp2307=)
c.6805G= (p.Asp2269=)
c.6746-1323G= (n.6746-1323G=)
c.4789G= (p.Asp1597=)
c.2479G= (p.Asp827=)
n.7178G=
18g.23907830G>TCA402053305LAMA3c.2083G>T (p.Asp695Tyr)
c.6910G>T (p.Asp2304Tyr)
c.3611-1323G>T (n.3611-1323G>T)
c.6742G>T (p.Asp2248Tyr)
c.1688G>T
c.1915G>T (p.Asp639Tyr)
n.1488G>T
c.6937G>T (p.Asp2313Tyr)
c.6928G>T (p.Asp2310Tyr)
c.6919G>T (p.Asp2307Tyr)
c.6805G>T (p.Asp2269Tyr)
c.6746-1323G>T (n.6746-1323G>T)
c.4789G>T (p.Asp1597Tyr)
c.2479G>T (p.Asp827Tyr)
n.7178G>T
18g.23907834_23907857delCA988411141LAMA3c.2087_2110del (p.Gly696_Asp703del)
c.6914_6937del (p.Gly2305_Asp2312del)
c.3611-1319_3611-1296del (n.3611-1319_3611-1296del)
c.6746_6769del (p.Gly2249_Asp2256del)
c.1692_1715del
c.1919_1942del (p.Gly640_Asp647del)
n.1492_1515del
c.6941_6964del (p.Gly2314_Asp2321del)
c.6932_6955del (p.Gly2311_Asp2318del)
c.6923_6946del (p.Gly2308_Asp2315del)
c.6809_6832del (p.Gly2270_Asp2277del)
c.6746-1319_6746-1296del (n.6746-1319_6746-1296del)
c.4793_4816del (p.Gly1598_Asp1605del)
c.2483_2506del (p.Gly828_Asp835del)
n.7182_7205del
 dbSNP gnomAD v3 gnomAD v4
18g.23907831A>CCA402053306LAMA3c.2084A>C (p.Asp695Ala)
c.6911A>C (p.Asp2304Ala)
c.3611-1322A>C (n.3611-1322A>C)
c.6743A>C (p.Asp2248Ala)
c.1689A>C
c.1916A>C (p.Asp639Ala)
n.1489A>C
c.6938A>C (p.Asp2313Ala)
c.6929A>C (p.Asp2310Ala)
c.6920A>C (p.Asp2307Ala)
c.6806A>C (p.Asp2269Ala)
c.6746-1322A>C (n.6746-1322A>C)
c.4790A>C (p.Asp1597Ala)
c.2480A>C (p.Asp827Ala)
n.7179A>C
18g.23907831A>GCA402053308LAMA3c.2084A>G (p.Asp695Gly)
c.6911A>G (p.Asp2304Gly)
c.3611-1322A>G (n.3611-1322A>G)
c.6743A>G (p.Asp2248Gly)
c.1689A>G
c.1916A>G (p.Asp639Gly)
n.1489A>G
c.6938A>G (p.Asp2313Gly)
c.6929A>G (p.Asp2310Gly)
c.6920A>G (p.Asp2307Gly)
c.6806A>G (p.Asp2269Gly)
c.6746-1322A>G (n.6746-1322A>G)
c.4790A>G (p.Asp1597Gly)
c.2480A>G (p.Asp827Gly)
n.7179A>G
 gnomAD v4
18g.23907831A>TCA402053310LAMA3c.2084A>T (p.Asp695Val)
c.6911A>T (p.Asp2304Val)
c.3611-1322A>T (n.3611-1322A>T)
c.6743A>T (p.Asp2248Val)
c.1689A>T
c.1916A>T (p.Asp639Val)
n.1489A>T
c.6938A>T (p.Asp2313Val)
c.6929A>T (p.Asp2310Val)
c.6920A>T (p.Asp2307Val)
c.6806A>T (p.Asp2269Val)
c.6746-1322A>T (n.6746-1322A>T)
c.4790A>T (p.Asp1597Val)
c.2480A>T (p.Asp827Val)
n.7179A>T
18g.23907832T>ACA402053312LAMA3c.2085T>A (p.Asp695Glu)
c.6912T>A (p.Asp2304Glu)
c.3611-1321T>A (n.3611-1321T>A)
c.6744T>A (p.Asp2248Glu)
c.1690T>A
c.1917T>A (p.Asp639Glu)
n.1490T>A
c.6939T>A (p.Asp2313Glu)
c.6930T>A (p.Asp2310Glu)
c.6921T>A (p.Asp2307Glu)
c.6807T>A (p.Asp2269Glu)
c.6746-1321T>A (n.6746-1321T>A)
c.4791T>A (p.Asp1597Glu)
c.2481T>A (p.Asp827Glu)
n.7180T>A
18g.23907832T>CCA503337504LAMA3c.2085T>C (p.Asp695=)
c.6912T>C (p.Asp2304=)
c.3611-1321T>C (n.3611-1321T>C)
c.6744T>C (p.Asp2248=)
c.1690T>C
c.1917T>C (p.Asp639=)
n.1490T>C
c.6939T>C (p.Asp2313=)
c.6930T>C (p.Asp2310=)
c.6921T>C (p.Asp2307=)
c.6807T>C (p.Asp2269=)
c.6746-1321T>C (n.6746-1321T>C)
c.4791T>C (p.Asp1597=)
c.2481T>C (p.Asp827=)
n.7180T>C
 gnomAD v4
18g.23907832T>GCA402053314LAMA3c.2085T>G (p.Asp695Glu)
c.6912T>G (p.Asp2304Glu)
c.3611-1321T>G (n.3611-1321T>G)
c.6744T>G (p.Asp2248Glu)
c.1690T>G
c.1917T>G (p.Asp639Glu)
n.1490T>G
c.6939T>G (p.Asp2313Glu)
c.6930T>G (p.Asp2310Glu)
c.6921T>G (p.Asp2307Glu)
c.6807T>G (p.Asp2269Glu)
c.6746-1321T>G (n.6746-1321T>G)
c.4791T>G (p.Asp1597Glu)
c.2481T>G (p.Asp827Glu)
n.7180T>G
18g.23907833G>ACA402053316LAMA3c.2086G>A (p.Gly696Arg)
c.6913G>A (p.Gly2305Arg)
c.3611-1320G>A (n.3611-1320G>A)
c.6745G>A (p.Gly2249Arg)
c.1691G>A
c.1918G>A (p.Gly640Arg)
n.1491G>A
c.6940G>A (p.Gly2314Arg)
c.6931G>A (p.Gly2311Arg)
c.6922G>A (p.Gly2308Arg)
c.6808G>A (p.Gly2270Arg)
c.6746-1320G>A (n.6746-1320G>A)
c.4792G>A (p.Gly1598Arg)
c.2482G>A (p.Gly828Arg)
n.7181G>A
18g.23907833G>CCA402053317LAMA3c.2086G>C (p.Gly696Arg)
c.6913G>C (p.Gly2305Arg)
c.3611-1320G>C (n.3611-1320G>C)
c.6745G>C (p.Gly2249Arg)
c.1691G>C
c.1918G>C (p.Gly640Arg)
n.1491G>C
c.6940G>C (p.Gly2314Arg)
c.6931G>C (p.Gly2311Arg)
c.6922G>C (p.Gly2308Arg)
c.6808G>C (p.Gly2270Arg)
c.6746-1320G>C (n.6746-1320G>C)
c.4792G>C (p.Gly1598Arg)
c.2482G>C (p.Gly828Arg)
n.7181G>C
18g.23907833G>TCA402053319LAMA3c.2086G>T (p.Gly696Trp)
c.6913G>T (p.Gly2305Trp)
c.3611-1320G>T (n.3611-1320G>T)
c.6745G>T (p.Gly2249Trp)
c.1691G>T
c.1918G>T (p.Gly640Trp)
n.1491G>T
c.6940G>T (p.Gly2314Trp)
c.6931G>T (p.Gly2311Trp)
c.6922G>T (p.Gly2308Trp)
c.6808G>T (p.Gly2270Trp)
c.6746-1320G>T (n.6746-1320G>T)
c.4792G>T (p.Gly1598Trp)
c.2482G>T (p.Gly828Trp)
n.7181G>T
18g.23907834G>ACA402053325LAMA3c.2087G>A (p.Gly696Glu)
c.6914G>A (p.Gly2305Glu)
c.3611-1319G>A (n.3611-1319G>A)
c.6746G>A (p.Gly2249Glu)
c.1692G>A
c.1919G>A (p.Gly640Glu)
n.1492G>A
c.6941G>A (p.Gly2314Glu)
c.6932G>A (p.Gly2311Glu)
c.6923G>A (p.Gly2308Glu)
c.6809G>A (p.Gly2270Glu)
c.6746-1319G>A (n.6746-1319G>A)
c.4793G>A (p.Gly1598Glu)
c.2483G>A (p.Gly828Glu)
n.7182G>A
18g.23907834G>CCA402053322LAMA3c.2087G>C (p.Gly696Ala)
c.6914G>C (p.Gly2305Ala)
c.3611-1319G>C (n.3611-1319G>C)
c.6746G>C (p.Gly2249Ala)
c.1692G>C
c.1919G>C (p.Gly640Ala)
n.1492G>C
c.6941G>C (p.Gly2314Ala)
c.6932G>C (p.Gly2311Ala)
c.6923G>C (p.Gly2308Ala)
c.6809G>C (p.Gly2270Ala)
c.6746-1319G>C (n.6746-1319G>C)
c.4793G>C (p.Gly1598Ala)
c.2483G>C (p.Gly828Ala)
n.7182G>C
 dbSNP
18g.23907834G=CA2290325999LAMA3c.2087G= (p.Gly696=)
c.6914G= (p.Gly2305=)
c.3611-1319G= (n.3611-1319G=)
c.6746G= (p.Gly2249=)
c.1692G=
c.1919G= (p.Gly640=)
n.1492G=
c.6941G= (p.Gly2314=)
c.6932G= (p.Gly2311=)
c.6923G= (p.Gly2308=)
c.6809G= (p.Gly2270=)
c.6746-1319G= (n.6746-1319G=)
c.4793G= (p.Gly1598=)
c.2483G= (p.Gly828=)
n.7182G=
18g.23907834G>TCA402053323LAMA3c.2087G>T (p.Gly696Val)
c.6914G>T (p.Gly2305Val)
c.3611-1319G>T (n.3611-1319G>T)
c.6746G>T (p.Gly2249Val)
c.1692G>T
c.1919G>T (p.Gly640Val)
n.1492G>T
c.6941G>T (p.Gly2314Val)
c.6932G>T (p.Gly2311Val)
c.6923G>T (p.Gly2308Val)
c.6809G>T (p.Gly2270Val)
c.6746-1319G>T (n.6746-1319G>T)
c.4793G>T (p.Gly1598Val)
c.2483G>T (p.Gly828Val)
n.7182G>T
18g.23907835G>ACA503337505LAMA3c.2088G>A (p.Gly696=)
c.6915G>A (p.Gly2305=)
c.3611-1318G>A (n.3611-1318G>A)
c.6747G>A (p.Gly2249=)
c.1693G>A
c.1920G>A (p.Gly640=)
n.1493G>A
c.6942G>A (p.Gly2314=)
c.6933G>A (p.Gly2311=)
c.6924G>A (p.Gly2308=)
c.6810G>A (p.Gly2270=)
c.6746-1318G>A (n.6746-1318G>A)
c.4794G>A (p.Gly1598=)
c.2484G>A (p.Gly828=)
n.7183G>A
18g.23907835G>CCA503337506LAMA3c.2088G>C (p.Gly696=)
c.6915G>C (p.Gly2305=)
c.3611-1318G>C (n.3611-1318G>C)
c.6747G>C (p.Gly2249=)
c.1693G>C
c.1920G>C (p.Gly640=)
n.1493G>C
c.6942G>C (p.Gly2314=)
c.6933G>C (p.Gly2311=)
c.6924G>C (p.Gly2308=)
c.6810G>C (p.Gly2270=)
c.6746-1318G>C (n.6746-1318G>C)
c.4794G>C (p.Gly1598=)
c.2484G>C (p.Gly828=)
n.7183G>C
18g.23907835G>TCA503337507LAMA3c.2088G>T (p.Gly696=)
c.6915G>T (p.Gly2305=)
c.3611-1318G>T (n.3611-1318G>T)
c.6747G>T (p.Gly2249=)
c.1693G>T
c.1920G>T (p.Gly640=)
n.1493G>T
c.6942G>T (p.Gly2314=)
c.6933G>T (p.Gly2311=)
c.6924G>T (p.Gly2308=)
c.6810G>T (p.Gly2270=)
c.6746-1318G>T (n.6746-1318G>T)
c.4794G>T (p.Gly1598=)
c.2484G>T (p.Gly828=)
n.7183G>T
18g.23907836C>ACA402053328LAMA3c.2089C>A (p.Leu697Ile)
c.6916C>A (p.Leu2306Ile)
c.3611-1317C>A (n.3611-1317C>A)
c.6748C>A (p.Leu2250Ile)
c.1694C>A
c.1921C>A (p.Leu641Ile)
n.1494C>A
c.6943C>A (p.Leu2315Ile)
c.6934C>A (p.Leu2312Ile)
c.6925C>A (p.Leu2309Ile)
c.6811C>A (p.Leu2271Ile)
c.6746-1317C>A (n.6746-1317C>A)
c.4795C>A (p.Leu1599Ile)
c.2485C>A (p.Leu829Ile)
n.7184C>A
 dbSNP gnomAD v3 gnomAD v4
18g.23907836C=CA2290326000LAMA3c.2089C= (p.Leu697=)
c.6916C= (p.Leu2306=)
c.3611-1317C= (n.3611-1317C=)
c.6748C= (p.Leu2250=)
c.1694C=
c.1921C= (p.Leu641=)
n.1494C=
c.6943C= (p.Leu2315=)
c.6934C= (p.Leu2312=)
c.6925C= (p.Leu2309=)
c.6811C= (p.Leu2271=)
c.6746-1317C= (n.6746-1317C=)
c.4795C= (p.Leu1599=)
c.2485C= (p.Leu829=)
n.7184C=
18g.23907836C>GCA402053329LAMA3c.2089C>G (p.Leu697Val)
c.6916C>G (p.Leu2306Val)
c.3611-1317C>G (n.3611-1317C>G)
c.6748C>G (p.Leu2250Val)
c.1694C>G
c.1921C>G (p.Leu641Val)
n.1494C>G
c.6943C>G (p.Leu2315Val)
c.6934C>G (p.Leu2312Val)
c.6925C>G (p.Leu2309Val)
c.6811C>G (p.Leu2271Val)
c.6746-1317C>G (n.6746-1317C>G)
c.4795C>G (p.Leu1599Val)
c.2485C>G (p.Leu829Val)
n.7184C>G
18g.23907836C>TCA402053331LAMA3c.2089C>T (p.Leu697Phe)
c.6916C>T (p.Leu2306Phe)
c.3611-1317C>T (n.3611-1317C>T)
c.6748C>T (p.Leu2250Phe)
c.1694C>T
c.1921C>T (p.Leu641Phe)
n.1494C>T
c.6943C>T (p.Leu2315Phe)
c.6934C>T (p.Leu2312Phe)
c.6925C>T (p.Leu2309Phe)
c.6811C>T (p.Leu2271Phe)
c.6746-1317C>T (n.6746-1317C>T)
c.4795C>T (p.Leu1599Phe)
c.2485C>T (p.Leu829Phe)
n.7184C>T
18g.23907837T>ACA402053334LAMA3c.2090T>A (p.Leu697His)
c.6917T>A (p.Leu2306His)
c.3611-1316T>A (n.3611-1316T>A)
c.6749T>A (p.Leu2250His)
c.1695T>A
c.1922T>A (p.Leu641His)
n.1495T>A
c.6944T>A (p.Leu2315His)
c.6935T>A (p.Leu2312His)
c.6926T>A (p.Leu2309His)
c.6812T>A (p.Leu2271His)
c.6746-1316T>A (n.6746-1316T>A)
c.4796T>A (p.Leu1599His)
c.2486T>A (p.Leu829His)
n.7185T>A
18g.23907837T>CCA402053335LAMA3c.2090T>C (p.Leu697Pro)
c.6917T>C (p.Leu2306Pro)
c.3611-1316T>C (n.3611-1316T>C)
c.6749T>C (p.Leu2250Pro)
c.1695T>C
c.1922T>C (p.Leu641Pro)
n.1495T>C
c.6944T>C (p.Leu2315Pro)
c.6935T>C (p.Leu2312Pro)
c.6926T>C (p.Leu2309Pro)
c.6812T>C (p.Leu2271Pro)
c.6746-1316T>C (n.6746-1316T>C)
c.4796T>C (p.Leu1599Pro)
c.2486T>C (p.Leu829Pro)
n.7185T>C
18g.23907837T>GCA402053336LAMA3c.2090T>G (p.Leu697Arg)
c.6917T>G (p.Leu2306Arg)
c.3611-1316T>G (n.3611-1316T>G)
c.6749T>G (p.Leu2250Arg)
c.1695T>G
c.1922T>G (p.Leu641Arg)
n.1495T>G
c.6944T>G (p.Leu2315Arg)
c.6935T>G (p.Leu2312Arg)
c.6926T>G (p.Leu2309Arg)
c.6812T>G (p.Leu2271Arg)
c.6746-1316T>G (n.6746-1316T>G)
c.4796T>G (p.Leu1599Arg)
c.2486T>G (p.Leu829Arg)
n.7185T>G
18g.23907838C>ACA503337508LAMA3c.2091C>A (p.Leu697=)
c.6918C>A (p.Leu2306=)
c.3611-1315C>A (n.3611-1315C>A)
c.6750C>A (p.Leu2250=)
c.1696C>A
c.1923C>A (p.Leu641=)
n.1496C>A
c.6945C>A (p.Leu2315=)
c.6936C>A (p.Leu2312=)
c.6927C>A (p.Leu2309=)
c.6813C>A (p.Leu2271=)
c.6746-1315C>A (n.6746-1315C>A)
c.4797C>A (p.Leu1599=)
c.2487C>A (p.Leu829=)
n.7186C>A
18g.23907838C>GCA503337509LAMA3c.2091C>G (p.Leu697=)
c.6918C>G (p.Leu2306=)
c.3611-1315C>G (n.3611-1315C>G)
c.6750C>G (p.Leu2250=)
c.1696C>G
c.1923C>G (p.Leu641=)
n.1496C>G
c.6945C>G (p.Leu2315=)
c.6936C>G (p.Leu2312=)
c.6927C>G (p.Leu2309=)
c.6813C>G (p.Leu2271=)
c.6746-1315C>G (n.6746-1315C>G)
c.4797C>G (p.Leu1599=)
c.2487C>G (p.Leu829=)
n.7186C>G
18g.23907838C>TCA503337510LAMA3c.2091C>T (p.Leu697=)
c.6918C>T (p.Leu2306=)
c.3611-1315C>T (n.3611-1315C>T)
c.6750C>T (p.Leu2250=)
c.1696C>T
c.1923C>T (p.Leu641=)
n.1496C>T
c.6945C>T (p.Leu2315=)
c.6936C>T (p.Leu2312=)
c.6927C>T (p.Leu2309=)
c.6813C>T (p.Leu2271=)
c.6746-1315C>T (n.6746-1315C>T)
c.4797C>T (p.Leu1599=)
c.2487C>T (p.Leu829=)
n.7186C>T
18g.23907839A=CA2290326001LAMA3c.2092A= (p.Asn698=)
c.6919A= (p.Asn2307=)
c.3611-1314A= (n.3611-1314A=)
c.6751A= (p.Asn2251=)
c.1697A=
c.1924A= (p.Asn642=)
n.1497A=
c.6946A= (p.Asn2316=)
c.6937A= (p.Asn2313=)
c.6928A= (p.Asn2310=)
c.6814A= (p.Asn2272=)
c.6746-1314A= (n.6746-1314A=)
c.4798A= (p.Asn1600=)
c.2488A= (p.Asn830=)
n.7187A=
18g.23907839A>CCA402053339LAMA3c.2092A>C (p.Asn698His)
c.6919A>C (p.Asn2307His)
c.3611-1314A>C (n.3611-1314A>C)
c.6751A>C (p.Asn2251His)
c.1697A>C
c.1924A>C (p.Asn642His)
n.1497A>C
c.6946A>C (p.Asn2316His)
c.6937A>C (p.Asn2313His)
c.6928A>C (p.Asn2310His)
c.6814A>C (p.Asn2272His)
c.6746-1314A>C (n.6746-1314A>C)
c.4798A>C (p.Asn1600His)
c.2488A>C (p.Asn830His)
n.7187A>C
18g.23907839A>GCA8916515LAMA3c.2092A>G (p.Asn698Asp)
c.6919A>G (p.Asn2307Asp)
c.3611-1314A>G (n.3611-1314A>G)
c.6751A>G (p.Asn2251Asp)
c.1697A>G
c.1924A>G (p.Asn642Asp)
n.1497A>G
c.6946A>G (p.Asn2316Asp)
c.6937A>G (p.Asn2313Asp)
c.6928A>G (p.Asn2310Asp)
c.6814A>G (p.Asn2272Asp)
c.6746-1314A>G (n.6746-1314A>G)
c.4798A>G (p.Asn1600Asp)
c.2488A>G (p.Asn830Asp)
n.7187A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23907839A>TCA402053341LAMA3c.2092A>T (p.Asn698Tyr)
c.6919A>T (p.Asn2307Tyr)
c.3611-1314A>T (n.3611-1314A>T)
c.6751A>T (p.Asn2251Tyr)
c.1697A>T
c.1924A>T (p.Asn642Tyr)
n.1497A>T
c.6946A>T (p.Asn2316Tyr)
c.6937A>T (p.Asn2313Tyr)
c.6928A>T (p.Asn2310Tyr)
c.6814A>T (p.Asn2272Tyr)
c.6746-1314A>T (n.6746-1314A>T)
c.4798A>T (p.Asn1600Tyr)
c.2488A>T (p.Asn830Tyr)
n.7187A>T
18g.23907840A=CA2290326002LAMA3c.2093A= (p.Asn698=)
c.6920A= (p.Asn2307=)
c.3611-1313A= (n.3611-1313A=)
c.6752A= (p.Asn2251=)
c.1698A=
c.1925A= (p.Asn642=)
n.1498A=
c.6947A= (p.Asn2316=)
c.6938A= (p.Asn2313=)
c.6929A= (p.Asn2310=)
c.6815A= (p.Asn2272=)
c.6746-1313A= (n.6746-1313A=)
c.4799A= (p.Asn1600=)
c.2489A= (p.Asn830=)
n.7188A=
18g.23907840A>CCA402053344LAMA3c.2093A>C (p.Asn698Thr)
c.6920A>C (p.Asn2307Thr)
c.3611-1313A>C (n.3611-1313A>C)
c.6752A>C (p.Asn2251Thr)
c.1698A>C
c.1925A>C (p.Asn642Thr)
n.1498A>C
c.6947A>C (p.Asn2316Thr)
c.6938A>C (p.Asn2313Thr)
c.6929A>C (p.Asn2310Thr)
c.6815A>C (p.Asn2272Thr)
c.6746-1313A>C (n.6746-1313A>C)
c.4799A>C (p.Asn1600Thr)
c.2489A>C (p.Asn830Thr)
n.7188A>C
18g.23907840A>GCA402053345LAMA3c.2093A>G (p.Asn698Ser)
c.6920A>G (p.Asn2307Ser)
c.3611-1313A>G (n.3611-1313A>G)
c.6752A>G (p.Asn2251Ser)
c.1698A>G
c.1925A>G (p.Asn642Ser)
n.1498A>G
c.6947A>G (p.Asn2316Ser)
c.6938A>G (p.Asn2313Ser)
c.6929A>G (p.Asn2310Ser)
c.6815A>G (p.Asn2272Ser)
c.6746-1313A>G (n.6746-1313A>G)
c.4799A>G (p.Asn1600Ser)
c.2489A>G (p.Asn830Ser)
n.7188A>G
 dbSNP
18g.23907840A>TCA402053347LAMA3c.2093A>T (p.Asn698Ile)
c.6920A>T (p.Asn2307Ile)
c.3611-1313A>T (n.3611-1313A>T)
c.6752A>T (p.Asn2251Ile)
c.1698A>T
c.1925A>T (p.Asn642Ile)
n.1498A>T
c.6947A>T (p.Asn2316Ile)
c.6938A>T (p.Asn2313Ile)
c.6929A>T (p.Asn2310Ile)
c.6815A>T (p.Asn2272Ile)
c.6746-1313A>T (n.6746-1313A>T)
c.4799A>T (p.Asn1600Ile)
c.2489A>T (p.Asn830Ile)
n.7188A>T
 gnomAD v4
18g.23907841C>ACA402053351LAMA3c.2094C>A (p.Asn698Lys)
c.6921C>A (p.Asn2307Lys)
c.3611-1312C>A (n.3611-1312C>A)
c.6753C>A (p.Asn2251Lys)
c.1699C>A
c.1926C>A (p.Asn642Lys)
n.1499C>A
c.6948C>A (p.Asn2316Lys)
c.6939C>A (p.Asn2313Lys)
c.6930C>A (p.Asn2310Lys)
c.6816C>A (p.Asn2272Lys)
c.6746-1312C>A (n.6746-1312C>A)
c.4800C>A (p.Asn1600Lys)
c.2490C>A (p.Asn830Lys)
n.7189C>A
18g.23907841C>GCA402053350LAMA3c.2094C>G (p.Asn698Lys)
c.6921C>G (p.Asn2307Lys)
c.3611-1312C>G (n.3611-1312C>G)
c.6753C>G (p.Asn2251Lys)
c.1699C>G
c.1926C>G (p.Asn642Lys)
n.1499C>G
c.6948C>G (p.Asn2316Lys)
c.6939C>G (p.Asn2313Lys)
c.6930C>G (p.Asn2310Lys)
c.6816C>G (p.Asn2272Lys)
c.6746-1312C>G (n.6746-1312C>G)
c.4800C>G (p.Asn1600Lys)
c.2490C>G (p.Asn830Lys)
n.7189C>G
18g.23907841C>TCA503337511LAMA3c.2094C>T (p.Asn698=)
c.6921C>T (p.Asn2307=)
c.3611-1312C>T (n.3611-1312C>T)
c.6753C>T (p.Asn2251=)
c.1699C>T
c.1926C>T (p.Asn642=)
n.1499C>T
c.6948C>T (p.Asn2316=)
c.6939C>T (p.Asn2313=)
c.6930C>T (p.Asn2310=)
c.6816C>T (p.Asn2272=)
c.6746-1312C>T (n.6746-1312C>T)
c.4800C>T (p.Asn1600=)
c.2490C>T (p.Asn830=)
n.7189C>T
 gnomAD v4
18g.23907842C>ACA8916516LAMA3c.2095C>A (p.Pro699Thr)
c.6922C>A (p.Pro2308Thr)
c.3611-1311C>A (n.3611-1311C>A)
c.6754C>A (p.Pro2252Thr)
c.1700C>A
c.1927C>A (p.Pro643Thr)
n.1500C>A
c.6949C>A (p.Pro2317Thr)
c.6940C>A (p.Pro2314Thr)
c.6931C>A (p.Pro2311Thr)
c.6817C>A (p.Pro2273Thr)
c.6746-1311C>A (n.6746-1311C>A)
c.4801C>A (p.Pro1601Thr)
c.2491C>A (p.Pro831Thr)
n.7190C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23907842C=CA2290326003LAMA3c.2095C= (p.Pro699=)
c.6922C= (p.Pro2308=)
c.3611-1311C= (n.3611-1311C=)
c.6754C= (p.Pro2252=)
c.1700C=
c.1927C= (p.Pro643=)
n.1500C=
c.6949C= (p.Pro2317=)
c.6940C= (p.Pro2314=)
c.6931C= (p.Pro2311=)
c.6817C= (p.Pro2273=)
c.6746-1311C= (n.6746-1311C=)
c.4801C= (p.Pro1601=)
c.2491C= (p.Pro831=)
n.7190C=
18g.23907842C>GCA402053354LAMA3c.2095C>G (p.Pro699Ala)
c.6922C>G (p.Pro2308Ala)
c.3611-1311C>G (n.3611-1311C>G)
c.6754C>G (p.Pro2252Ala)
c.1700C>G
c.1927C>G (p.Pro643Ala)
n.1500C>G
c.6949C>G (p.Pro2317Ala)
c.6940C>G (p.Pro2314Ala)
c.6931C>G (p.Pro2311Ala)
c.6817C>G (p.Pro2273Ala)
c.6746-1311C>G (n.6746-1311C>G)
c.4801C>G (p.Pro1601Ala)
c.2491C>G (p.Pro831Ala)
n.7190C>G
18g.23907842C>TCA402053356LAMA3c.2095C>T (p.Pro699Ser)
c.6922C>T (p.Pro2308Ser)
c.3611-1311C>T (n.3611-1311C>T)
c.6754C>T (p.Pro2252Ser)
c.1700C>T
c.1927C>T (p.Pro643Ser)
n.1500C>T
c.6949C>T (p.Pro2317Ser)
c.6940C>T (p.Pro2314Ser)
c.6931C>T (p.Pro2311Ser)
c.6817C>T (p.Pro2273Ser)
c.6746-1311C>T (n.6746-1311C>T)
c.4801C>T (p.Pro1601Ser)
c.2491C>T (p.Pro831Ser)
n.7190C>T
18g.23907843C>ACA10604339LAMA3c.2096C>A (p.Pro699His)
c.6923C>A (p.Pro2308His)
c.3611-1310C>A (n.3611-1310C>A)
c.6755C>A (p.Pro2252His)
c.1701C>A
c.1928C>A (p.Pro643His)
n.1501C>A
c.6950C>A (p.Pro2317His)
c.6941C>A (p.Pro2314His)
c.6932C>A (p.Pro2311His)
c.6818C>A (p.Pro2273His)
c.6746-1310C>A (n.6746-1310C>A)
c.4802C>A (p.Pro1601His)
c.2492C>A (p.Pro831His)
n.7191C>A
 ClinVar dbSNP
18g.23907843C=CA2290326004LAMA3c.2096C= (p.Pro699=)
c.6923C= (p.Pro2308=)
c.3611-1310C= (n.3611-1310C=)
c.6755C= (p.Pro2252=)
c.1701C=
c.1928C= (p.Pro643=)
n.1501C=
c.6950C= (p.Pro2317=)
c.6941C= (p.Pro2314=)
c.6932C= (p.Pro2311=)
c.6818C= (p.Pro2273=)
c.6746-1310C= (n.6746-1310C=)
c.4802C= (p.Pro1601=)
c.2492C= (p.Pro831=)
n.7191C=
18g.23907843C>GCA402053358LAMA3c.2096C>G (p.Pro699Arg)
c.6923C>G (p.Pro2308Arg)
c.3611-1310C>G (n.3611-1310C>G)
c.6755C>G (p.Pro2252Arg)
c.1701C>G
c.1928C>G (p.Pro643Arg)
n.1501C>G
c.6950C>G (p.Pro2317Arg)
c.6941C>G (p.Pro2314Arg)
c.6932C>G (p.Pro2311Arg)
c.6818C>G (p.Pro2273Arg)
c.6746-1310C>G (n.6746-1310C>G)
c.4802C>G (p.Pro1601Arg)
c.2492C>G (p.Pro831Arg)
n.7191C>G
 gnomAD v4
18g.23907843C>TCA402053360LAMA3c.2096C>T (p.Pro699Leu)
c.6923C>T (p.Pro2308Leu)
c.3611-1310C>T (n.3611-1310C>T)
c.6755C>T (p.Pro2252Leu)
c.1701C>T
c.1928C>T (p.Pro643Leu)
n.1501C>T
c.6950C>T (p.Pro2317Leu)
c.6941C>T (p.Pro2314Leu)
c.6932C>T (p.Pro2311Leu)
c.6818C>T (p.Pro2273Leu)
c.6746-1310C>T (n.6746-1310C>T)
c.4802C>T (p.Pro1601Leu)
c.2492C>T (p.Pro831Leu)
n.7191C>T
18g.23907844C>ACA503337512LAMA3c.2097C>A (p.Pro699=)
c.6924C>A (p.Pro2308=)
c.3611-1309C>A (n.3611-1309C>A)
c.6756C>A (p.Pro2252=)
c.1702C>A
c.1929C>A (p.Pro643=)
n.1502C>A
c.6951C>A (p.Pro2317=)
c.6942C>A (p.Pro2314=)
c.6933C>A (p.Pro2311=)
c.6819C>A (p.Pro2273=)
c.6746-1309C>A (n.6746-1309C>A)
c.4803C>A (p.Pro1601=)
c.2493C>A (p.Pro831=)
n.7192C>A
18g.23907844C>GCA503337513LAMA3c.2097C>G (p.Pro699=)
c.6924C>G (p.Pro2308=)
c.3611-1309C>G (n.3611-1309C>G)
c.6756C>G (p.Pro2252=)
c.1702C>G
c.1929C>G (p.Pro643=)
n.1502C>G
c.6951C>G (p.Pro2317=)
c.6942C>G (p.Pro2314=)
c.6933C>G (p.Pro2311=)
c.6819C>G (p.Pro2273=)
c.6746-1309C>G (n.6746-1309C>G)
c.4803C>G (p.Pro1601=)
c.2493C>G (p.Pro831=)
n.7192C>G
18g.23907844C>TCA503337514LAMA3c.2097C>T (p.Pro699=)
c.6924C>T (p.Pro2308=)
c.3611-1309C>T (n.3611-1309C>T)
c.6756C>T (p.Pro2252=)
c.1702C>T
c.1929C>T (p.Pro643=)
n.1502C>T
c.6951C>T (p.Pro2317=)
c.6942C>T (p.Pro2314=)
c.6933C>T (p.Pro2311=)
c.6819C>T (p.Pro2273=)
c.6746-1309C>T (n.6746-1309C>T)
c.4803C>T (p.Pro1601=)
c.2493C>T (p.Pro831=)
n.7192C>T
18g.23907845A>CCA402053363LAMA3c.2098A>C (p.Ile700Leu)
c.6925A>C (p.Ile2309Leu)
c.3611-1308A>C (n.3611-1308A>C)
c.6757A>C (p.Ile2253Leu)
c.1703A>C
c.1930A>C (p.Ile644Leu)
n.1503A>C
c.6952A>C (p.Ile2318Leu)
c.6943A>C (p.Ile2315Leu)
c.6934A>C (p.Ile2312Leu)
c.6820A>C (p.Ile2274Leu)
c.6746-1308A>C (n.6746-1308A>C)
c.4804A>C (p.Ile1602Leu)
c.2494A>C (p.Ile832Leu)
n.7193A>C
18g.23907845A>GCA402053364LAMA3c.2098A>G (p.Ile700Val)
c.6925A>G (p.Ile2309Val)
c.3611-1308A>G (n.3611-1308A>G)
c.6757A>G (p.Ile2253Val)
c.1703A>G
c.1930A>G (p.Ile644Val)
n.1503A>G
c.6952A>G (p.Ile2318Val)
c.6943A>G (p.Ile2315Val)
c.6934A>G (p.Ile2312Val)
c.6820A>G (p.Ile2274Val)
c.6746-1308A>G (n.6746-1308A>G)
c.4804A>G (p.Ile1602Val)
c.2494A>G (p.Ile832Val)
n.7193A>G
18g.23907845A>TCA402053366LAMA3c.2098A>T (p.Ile700Phe)
c.6925A>T (p.Ile2309Phe)
c.3611-1308A>T (n.3611-1308A>T)
c.6757A>T (p.Ile2253Phe)
c.1703A>T
c.1930A>T (p.Ile644Phe)
n.1503A>T
c.6952A>T (p.Ile2318Phe)
c.6943A>T (p.Ile2315Phe)
c.6934A>T (p.Ile2312Phe)
c.6820A>T (p.Ile2274Phe)
c.6746-1308A>T (n.6746-1308A>T)
c.4804A>T (p.Ile1602Phe)
c.2494A>T (p.Ile832Phe)
n.7193A>T
18g.23907846T>ACA402053369LAMA3c.2099T>A (p.Ile700Asn)
c.6926T>A (p.Ile2309Asn)
c.3611-1307T>A (n.3611-1307T>A)
c.6758T>A (p.Ile2253Asn)
c.1704T>A
c.1931T>A (p.Ile644Asn)
n.1504T>A
c.6953T>A (p.Ile2318Asn)
c.6944T>A (p.Ile2315Asn)
c.6935T>A (p.Ile2312Asn)
c.6821T>A (p.Ile2274Asn)
c.6746-1307T>A (n.6746-1307T>A)
c.4805T>A (p.Ile1602Asn)
c.2495T>A (p.Ile832Asn)
n.7194T>A
18g.23907846T>CCA402053370LAMA3c.2099T>C (p.Ile700Thr)
c.6926T>C (p.Ile2309Thr)
c.3611-1307T>C (n.3611-1307T>C)
c.6758T>C (p.Ile2253Thr)
c.1704T>C
c.1931T>C (p.Ile644Thr)
n.1504T>C
c.6953T>C (p.Ile2318Thr)
c.6944T>C (p.Ile2315Thr)
c.6935T>C (p.Ile2312Thr)
c.6821T>C (p.Ile2274Thr)
c.6746-1307T>C (n.6746-1307T>C)
c.4805T>C (p.Ile1602Thr)
c.2495T>C (p.Ile832Thr)
n.7194T>C
18g.23907846T>GCA402053372LAMA3c.2099T>G (p.Ile700Ser)
c.6926T>G (p.Ile2309Ser)
c.3611-1307T>G (n.3611-1307T>G)
c.6758T>G (p.Ile2253Ser)
c.1704T>G
c.1931T>G (p.Ile644Ser)
n.1504T>G
c.6953T>G (p.Ile2318Ser)
c.6944T>G (p.Ile2315Ser)
c.6935T>G (p.Ile2312Ser)
c.6821T>G (p.Ile2274Ser)
c.6746-1307T>G (n.6746-1307T>G)
c.4805T>G (p.Ile1602Ser)
c.2495T>G (p.Ile832Ser)
n.7194T>G
18g.23907847C>ACA503337515LAMA3c.2100C>A (p.Ile700=)
c.6927C>A (p.Ile2309=)
c.3611-1306C>A (n.3611-1306C>A)
c.6759C>A (p.Ile2253=)
c.1705C>A
c.1932C>A (p.Ile644=)
n.1505C>A
c.6954C>A (p.Ile2318=)
c.6945C>A (p.Ile2315=)
c.6936C>A (p.Ile2312=)
c.6822C>A (p.Ile2274=)
c.6746-1306C>A (n.6746-1306C>A)
c.4806C>A (p.Ile1602=)
c.2496C>A (p.Ile832=)
n.7195C>A
18g.23907847C=CA2290326005LAMA3c.2100C= (p.Ile700=)
c.6927C= (p.Ile2309=)
c.3611-1306C= (n.3611-1306C=)
c.6759C= (p.Ile2253=)
c.1705C=
c.1932C= (p.Ile644=)
n.1505C=
c.6954C= (p.Ile2318=)
c.6945C= (p.Ile2315=)
c.6936C= (p.Ile2312=)
c.6822C= (p.Ile2274=)
c.6746-1306C= (n.6746-1306C=)
c.4806C= (p.Ile1602=)
c.2496C= (p.Ile832=)
n.7195C=
18g.23907847C>GCA402053374LAMA3c.2100C>G (p.Ile700Met)
c.6927C>G (p.Ile2309Met)
c.3611-1306C>G (n.3611-1306C>G)
c.6759C>G (p.Ile2253Met)
c.1705C>G
c.1932C>G (p.Ile644Met)
n.1505C>G
c.6954C>G (p.Ile2318Met)
c.6945C>G (p.Ile2315Met)
c.6936C>G (p.Ile2312Met)
c.6822C>G (p.Ile2274Met)
c.6746-1306C>G (n.6746-1306C>G)
c.4806C>G (p.Ile1602Met)
c.2496C>G (p.Ile832Met)
n.7195C>G
18g.23907847C>TCA503337516LAMA3c.2100C>T (p.Ile700=)
c.6927C>T (p.Ile2309=)
c.3611-1306C>T (n.3611-1306C>T)
c.6759C>T (p.Ile2253=)
c.1705C>T
c.1932C>T (p.Ile644=)
n.1505C>T
c.6954C>T (p.Ile2318=)
c.6945C>T (p.Ile2315=)
c.6936C>T (p.Ile2312=)
c.6822C>T (p.Ile2274=)
c.6746-1306C>T (n.6746-1306C>T)
c.4806C>T (p.Ile1602=)
c.2496C>T (p.Ile832=)
n.7195C>T
 dbSNP gnomAD v4
18g.23907848C>ACA402053380LAMA3c.2101C>A (p.Gln701Lys)
c.6928C>A (p.Gln2310Lys)
c.3611-1305C>A (n.3611-1305C>A)
c.6760C>A (p.Gln2254Lys)
c.1706C>A
c.1933C>A (p.Gln645Lys)
n.1506C>A
c.6955C>A (p.Gln2319Lys)
c.6946C>A (p.Gln2316Lys)
c.6937C>A (p.Gln2313Lys)
c.6823C>A (p.Gln2275Lys)
c.6746-1305C>A (n.6746-1305C>A)
c.4807C>A (p.Gln1603Lys)
c.2497C>A (p.Gln833Lys)
n.7196C>A
18g.23907848C>GCA402053378LAMA3c.2101C>G (p.Gln701Glu)
c.6928C>G (p.Gln2310Glu)
c.3611-1305C>G (n.3611-1305C>G)
c.6760C>G (p.Gln2254Glu)
c.1706C>G
c.1933C>G (p.Gln645Glu)
n.1506C>G
c.6955C>G (p.Gln2319Glu)
c.6946C>G (p.Gln2316Glu)
c.6937C>G (p.Gln2313Glu)
c.6823C>G (p.Gln2275Glu)
c.6746-1305C>G (n.6746-1305C>G)
c.4807C>G (p.Gln1603Glu)
c.2497C>G (p.Gln833Glu)
n.7196C>G
18g.23907848C>TCA402053376LAMA3c.2101C>T (p.Gln701Ter)
c.6928C>T (p.Gln2310Ter)
c.3611-1305C>T (n.3611-1305C>T)
c.6760C>T (p.Gln2254Ter)
c.1706C>T
c.1933C>T (p.Gln645Ter)
n.1506C>T
c.6955C>T (p.Gln2319Ter)
c.6946C>T (p.Gln2316Ter)
c.6937C>T (p.Gln2313Ter)
c.6823C>T (p.Gln2275Ter)
c.6746-1305C>T (n.6746-1305C>T)
c.4807C>T (p.Gln1603Ter)
c.2497C>T (p.Gln833Ter)
n.7196C>T
18g.23907849A>CCA402053382LAMA3c.2102A>C (p.Gln701Pro)
c.6929A>C (p.Gln2310Pro)
c.3611-1304A>C (n.3611-1304A>C)
c.6761A>C (p.Gln2254Pro)
c.1707A>C
c.1934A>C (p.Gln645Pro)
n.1507A>C
c.6956A>C (p.Gln2319Pro)
c.6947A>C (p.Gln2316Pro)
c.6938A>C (p.Gln2313Pro)
c.6824A>C (p.Gln2275Pro)
c.6746-1304A>C (n.6746-1304A>C)
c.4808A>C (p.Gln1603Pro)
c.2498A>C (p.Gln833Pro)
n.7197A>C
 gnomAD v4
18g.23907849A>GCA402053384LAMA3c.2102A>G (p.Gln701Arg)
c.6929A>G (p.Gln2310Arg)
c.3611-1304A>G (n.3611-1304A>G)
c.6761A>G (p.Gln2254Arg)
c.1707A>G
c.1934A>G (p.Gln645Arg)
n.1507A>G
c.6956A>G (p.Gln2319Arg)
c.6947A>G (p.Gln2316Arg)
c.6938A>G (p.Gln2313Arg)
c.6824A>G (p.Gln2275Arg)
c.6746-1304A>G (n.6746-1304A>G)
c.4808A>G (p.Gln1603Arg)
c.2498A>G (p.Gln833Arg)
n.7197A>G
18g.23907849A>TCA402053385LAMA3c.2102A>T (p.Gln701Leu)
c.6929A>T (p.Gln2310Leu)
c.3611-1304A>T (n.3611-1304A>T)
c.6761A>T (p.Gln2254Leu)
c.1707A>T
c.1934A>T (p.Gln645Leu)
n.1507A>T
c.6956A>T (p.Gln2319Leu)
c.6947A>T (p.Gln2316Leu)
c.6938A>T (p.Gln2313Leu)
c.6824A>T (p.Gln2275Leu)
c.6746-1304A>T (n.6746-1304A>T)
c.4808A>T (p.Gln1603Leu)
c.2498A>T (p.Gln833Leu)
n.7197A>T
18g.23907850G>ACA503337517LAMA3c.2103G>A (p.Gln701=)
c.6930G>A (p.Gln2310=)
c.3611-1303G>A (n.3611-1303G>A)
c.6762G>A (p.Gln2254=)
c.1708G>A
c.1935G>A (p.Gln645=)
n.1508G>A
c.6957G>A (p.Gln2319=)
c.6948G>A (p.Gln2316=)
c.6939G>A (p.Gln2313=)
c.6825G>A (p.Gln2275=)
c.6746-1303G>A (n.6746-1303G>A)
c.4809G>A (p.Gln1603=)
c.2499G>A (p.Gln833=)
n.7198G>A
18g.23907850G>CCA402053387LAMA3c.2103G>C (p.Gln701His)
c.6930G>C (p.Gln2310His)
c.3611-1303G>C (n.3611-1303G>C)
c.6762G>C (p.Gln2254His)
c.1708G>C
c.1935G>C (p.Gln645His)
n.1508G>C
c.6957G>C (p.Gln2319His)
c.6948G>C (p.Gln2316His)
c.6939G>C (p.Gln2313His)
c.6825G>C (p.Gln2275His)
c.6746-1303G>C (n.6746-1303G>C)
c.4809G>C (p.Gln1603His)
c.2499G>C (p.Gln833His)
n.7198G>C
18g.23907850G>TCA402053389LAMA3c.2103G>T (p.Gln701His)
c.6930G>T (p.Gln2310His)
c.3611-1303G>T (n.3611-1303G>T)
c.6762G>T (p.Gln2254His)
c.1708G>T
c.1935G>T (p.Gln645His)
n.1508G>T
c.6957G>T (p.Gln2319His)
c.6948G>T (p.Gln2316His)
c.6939G>T (p.Gln2313His)
c.6825G>T (p.Gln2275His)
c.6746-1303G>T (n.6746-1303G>T)
c.4809G>T (p.Gln1603His)
c.2499G>T (p.Gln833His)
n.7198G>T
18g.23907851A>CCA402053391LAMA3c.2104A>C (p.Thr702Pro)
c.6931A>C (p.Thr2311Pro)
c.3611-1302A>C (n.3611-1302A>C)
c.6763A>C (p.Thr2255Pro)
c.1709A>C
c.1936A>C (p.Thr646Pro)
n.1509A>C
c.6958A>C (p.Thr2320Pro)
c.6949A>C (p.Thr2317Pro)
c.6940A>C (p.Thr2314Pro)
c.6826A>C (p.Thr2276Pro)
c.6746-1302A>C (n.6746-1302A>C)
c.4810A>C (p.Thr1604Pro)
c.2500A>C (p.Thr834Pro)
n.7199A>C
18g.23907851A>GCA402053393LAMA3c.2104A>G (p.Thr702Ala)
c.6931A>G (p.Thr2311Ala)
c.3611-1302A>G (n.3611-1302A>G)
c.6763A>G (p.Thr2255Ala)
c.1709A>G
c.1936A>G (p.Thr646Ala)
n.1509A>G
c.6958A>G (p.Thr2320Ala)
c.6949A>G (p.Thr2317Ala)
c.6940A>G (p.Thr2314Ala)
c.6826A>G (p.Thr2276Ala)
c.6746-1302A>G (n.6746-1302A>G)
c.4810A>G (p.Thr1604Ala)
c.2500A>G (p.Thr834Ala)
n.7199A>G
18g.23907851A>TCA402053395LAMA3c.2104A>T (p.Thr702Ser)
c.6931A>T (p.Thr2311Ser)
c.3611-1302A>T (n.3611-1302A>T)
c.6763A>T (p.Thr2255Ser)
c.1709A>T
c.1936A>T (p.Thr646Ser)
n.1509A>T
c.6958A>T (p.Thr2320Ser)
c.6949A>T (p.Thr2317Ser)
c.6940A>T (p.Thr2314Ser)
c.6826A>T (p.Thr2276Ser)
c.6746-1302A>T (n.6746-1302A>T)
c.4810A>T (p.Thr1604Ser)
c.2500A>T (p.Thr834Ser)
n.7199A>T
18g.23907852C>ACA402053398LAMA3c.2105C>A (p.Thr702Lys)
c.6932C>A (p.Thr2311Lys)
c.3611-1301C>A (n.3611-1301C>A)
c.6764C>A (p.Thr2255Lys)
c.1710C>A
c.1937C>A (p.Thr646Lys)
n.1510C>A
c.6959C>A (p.Thr2320Lys)
c.6950C>A (p.Thr2317Lys)
c.6941C>A (p.Thr2314Lys)
c.6827C>A (p.Thr2276Lys)
c.6746-1301C>A (n.6746-1301C>A)
c.4811C>A (p.Thr1604Lys)
c.2501C>A (p.Thr834Lys)
n.7200C>A
18g.23907852C>GCA402053399LAMA3c.2105C>G (p.Thr702Arg)
c.6932C>G (p.Thr2311Arg)
c.3611-1301C>G (n.3611-1301C>G)
c.6764C>G (p.Thr2255Arg)
c.1710C>G
c.1937C>G (p.Thr646Arg)
n.1510C>G
c.6959C>G (p.Thr2320Arg)
c.6950C>G (p.Thr2317Arg)
c.6941C>G (p.Thr2314Arg)
c.6827C>G (p.Thr2276Arg)
c.6746-1301C>G (n.6746-1301C>G)
c.4811C>G (p.Thr1604Arg)
c.2501C>G (p.Thr834Arg)
n.7200C>G
18g.23907852C>TCA402053401LAMA3c.2105C>T (p.Thr702Ile)
c.6932C>T (p.Thr2311Ile)
c.3611-1301C>T (n.3611-1301C>T)
c.6764C>T (p.Thr2255Ile)
c.1710C>T
c.1937C>T (p.Thr646Ile)
n.1510C>T
c.6959C>T (p.Thr2320Ile)
c.6950C>T (p.Thr2317Ile)
c.6941C>T (p.Thr2314Ile)
c.6827C>T (p.Thr2276Ile)
c.6746-1301C>T (n.6746-1301C>T)
c.4811C>T (p.Thr1604Ile)
c.2501C>T (p.Thr834Ile)
n.7200C>T
18g.23907853A>CCA503337518LAMA3c.2106A>C (p.Thr702=)
c.6933A>C (p.Thr2311=)
c.3611-1300A>C (n.3611-1300A>C)
c.6765A>C (p.Thr2255=)
c.1711A>C
c.1938A>C (p.Thr646=)
n.1511A>C
c.6960A>C (p.Thr2320=)
c.6951A>C (p.Thr2317=)
c.6942A>C (p.Thr2314=)
c.6828A>C (p.Thr2276=)
c.6746-1300A>C (n.6746-1300A>C)
c.4812A>C (p.Thr1604=)
c.2502A>C (p.Thr834=)
n.7201A>C
18g.23907853A>GCA503337520LAMA3c.2106A>G (p.Thr702=)
c.6933A>G (p.Thr2311=)
c.3611-1300A>G (n.3611-1300A>G)
c.6765A>G (p.Thr2255=)
c.1711A>G
c.1938A>G (p.Thr646=)
n.1511A>G
c.6960A>G (p.Thr2320=)
c.6951A>G (p.Thr2317=)
c.6942A>G (p.Thr2314=)
c.6828A>G (p.Thr2276=)
c.6746-1300A>G (n.6746-1300A>G)
c.4812A>G (p.Thr1604=)
c.2502A>G (p.Thr834=)
n.7201A>G
18g.23907853A>TCA503337519LAMA3c.2106A>T (p.Thr702=)
c.6933A>T (p.Thr2311=)
c.3611-1300A>T (n.3611-1300A>T)
c.6765A>T (p.Thr2255=)
c.1711A>T
c.1938A>T (p.Thr646=)
n.1511A>T
c.6960A>T (p.Thr2320=)
c.6951A>T (p.Thr2317=)
c.6942A>T (p.Thr2314=)
c.6828A>T (p.Thr2276=)
c.6746-1300A>T (n.6746-1300A>T)
c.4812A>T (p.Thr1604=)
c.2502A>T (p.Thr834=)
n.7201A>T
18g.23907854G>ACA8916517LAMA3c.2107G>A (p.Asp703Asn)
c.6934G>A (p.Asp2312Asn)
c.3611-1299G>A (n.3611-1299G>A)
c.6766G>A (p.Asp2256Asn)
c.1712G>A
c.1939G>A (p.Asp647Asn)
n.1512G>A
c.6961G>A (p.Asp2321Asn)
c.6952G>A (p.Asp2318Asn)
c.6943G>A (p.Asp2315Asn)
c.6829G>A (p.Asp2277Asn)
c.6746-1299G>A (n.6746-1299G>A)
c.4813G>A (p.Asp1605Asn)
c.2503G>A (p.Asp835Asn)
n.7202G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.23907854G>CCA402053403LAMA3c.2107G>C (p.Asp703His)
c.6934G>C (p.Asp2312His)
c.3611-1299G>C (n.3611-1299G>C)
c.6766G>C (p.Asp2256His)
c.1712G>C
c.1939G>C (p.Asp647His)
n.1512G>C
c.6961G>C (p.Asp2321His)
c.6952G>C (p.Asp2318His)
c.6943G>C (p.Asp2315His)
c.6829G>C (p.Asp2277His)
c.6746-1299G>C (n.6746-1299G>C)
c.4813G>C (p.Asp1605His)
c.2503G>C (p.Asp835His)
n.7202G>C
18g.23907854G=CA2290326006LAMA3c.2107G= (p.Asp703=)
c.6934G= (p.Asp2312=)
c.3611-1299G= (n.3611-1299G=)
c.6766G= (p.Asp2256=)
c.1712G=
c.1939G= (p.Asp647=)
n.1512G=
c.6961G= (p.Asp2321=)
c.6952G= (p.Asp2318=)
c.6943G= (p.Asp2315=)
c.6829G= (p.Asp2277=)
c.6746-1299G= (n.6746-1299G=)
c.4813G= (p.Asp1605=)
c.2503G= (p.Asp835=)
n.7202G=
18g.23907854G>TCA402053404LAMA3c.2107G>T (p.Asp703Tyr)
c.6934G>T (p.Asp2312Tyr)
c.3611-1299G>T (n.3611-1299G>T)
c.6766G>T (p.Asp2256Tyr)
c.1712G>T
c.1939G>T (p.Asp647Tyr)
n.1512G>T
c.6961G>T (p.Asp2321Tyr)
c.6952G>T (p.Asp2318Tyr)
c.6943G>T (p.Asp2315Tyr)
c.6829G>T (p.Asp2277Tyr)
c.6746-1299G>T (n.6746-1299G>T)
c.4813G>T (p.Asp1605Tyr)
c.2503G>T (p.Asp835Tyr)
n.7202G>T
18g.23907855A=CA2290326007LAMA3c.2108A= (p.Asp703=)
c.6935A= (p.Asp2312=)
c.3611-1298A= (n.3611-1298A=)
c.6767A= (p.Asp2256=)
c.1713A=
c.1940A= (p.Asp647=)
n.1513A=
c.6962A= (p.Asp2321=)
c.6953A= (p.Asp2318=)
c.6944A= (p.Asp2315=)
c.6830A= (p.Asp2277=)
c.6746-1298A= (n.6746-1298A=)
c.4814A= (p.Asp1605=)
c.2504A= (p.Asp835=)
n.7203A=
18g.23907855A>CCA402053408LAMA3c.2108A>C (p.Asp703Ala)
c.6935A>C (p.Asp2312Ala)
c.3611-1298A>C (n.3611-1298A>C)
c.6767A>C (p.Asp2256Ala)
c.1713A>C
c.1940A>C (p.Asp647Ala)
n.1513A>C
c.6962A>C (p.Asp2321Ala)
c.6953A>C (p.Asp2318Ala)
c.6944A>C (p.Asp2315Ala)
c.6830A>C (p.Asp2277Ala)
c.6746-1298A>C (n.6746-1298A>C)
c.4814A>C (p.Asp1605Ala)
c.2504A>C (p.Asp835Ala)
n.7203A>C
18g.23907855A>GCA402053410LAMA3c.2108A>G (p.Asp703Gly)
c.6935A>G (p.Asp2312Gly)
c.3611-1298A>G (n.3611-1298A>G)
c.6767A>G (p.Asp2256Gly)
c.1713A>G
c.1940A>G (p.Asp647Gly)
n.1513A>G
c.6962A>G (p.Asp2321Gly)
c.6953A>G (p.Asp2318Gly)
c.6944A>G (p.Asp2315Gly)
c.6830A>G (p.Asp2277Gly)
c.6746-1298A>G (n.6746-1298A>G)
c.4814A>G (p.Asp1605Gly)
c.2504A>G (p.Asp835Gly)
n.7203A>G
18g.23907855A>TCA402053407LAMA3c.2108A>T (p.Asp703Val)
c.6935A>T (p.Asp2312Val)
c.3611-1298A>T (n.3611-1298A>T)
c.6767A>T (p.Asp2256Val)
c.1713A>T
c.1940A>T (p.Asp647Val)
n.1513A>T
c.6962A>T (p.Asp2321Val)
c.6953A>T (p.Asp2318Val)
c.6944A>T (p.Asp2315Val)
c.6830A>T (p.Asp2277Val)
c.6746-1298A>T (n.6746-1298A>T)
c.4814A>T (p.Asp1605Val)
c.2504A>T (p.Asp835Val)
n.7203A>T
 dbSNP gnomAD v4
18g.23907856T>ACA402053412LAMA3c.2109T>A (p.Asp703Glu)
c.6936T>A (p.Asp2312Glu)
c.3611-1297T>A (n.3611-1297T>A)
c.6768T>A (p.Asp2256Glu)
c.1714T>A
c.1941T>A (p.Asp647Glu)
n.1514T>A
c.6963T>A (p.Asp2321Glu)
c.6954T>A (p.Asp2318Glu)
c.6945T>A (p.Asp2315Glu)
c.6831T>A (p.Asp2277Glu)
c.6746-1297T>A (n.6746-1297T>A)
c.4815T>A (p.Asp1605Glu)
c.2505T>A (p.Asp835Glu)
n.7204T>A
 gnomAD v4
18g.23907856T>CCA503337521LAMA3c.2109T>C (p.Asp703=)
c.6936T>C (p.Asp2312=)
c.3611-1297T>C (n.3611-1297T>C)
c.6768T>C (p.Asp2256=)
c.1714T>C
c.1941T>C (p.Asp647=)
n.1514T>C
c.6963T>C (p.Asp2321=)
c.6954T>C (p.Asp2318=)
c.6945T>C (p.Asp2315=)
c.6831T>C (p.Asp2277=)
c.6746-1297T>C (n.6746-1297T>C)
c.4815T>C (p.Asp1605=)
c.2505T>C (p.Asp835=)
n.7204T>C
18g.23907856T>GCA402053413LAMA3c.2109T>G (p.Asp703Glu)
c.6936T>G (p.Asp2312Glu)
c.3611-1297T>G (n.3611-1297T>G)
c.6768T>G (p.Asp2256Glu)
c.1714T>G
c.1941T>G (p.Asp647Glu)
n.1514T>G
c.6963T>G (p.Asp2321Glu)
c.6954T>G (p.Asp2318Glu)
c.6945T>G (p.Asp2315Glu)
c.6831T>G (p.Asp2277Glu)
c.6746-1297T>G (n.6746-1297T>G)
c.4815T>G (p.Asp1605Glu)
c.2505T>G (p.Asp835Glu)
n.7204T>G
18g.23907857G>ACA402053414LAMA3c.2110G>A (p.Val704Met)
c.6937G>A (p.Val2313Met)
c.3611-1296G>A (n.3611-1296G>A)
c.6769G>A (p.Val2257Met)
c.1715G>A
c.1942G>A (p.Val648Met)
n.1515G>A
c.6964G>A (p.Val2322Met)
c.6955G>A (p.Val2319Met)
c.6946G>A (p.Val2316Met)
c.6832G>A (p.Val2278Met)
c.6746-1296G>A (n.6746-1296G>A)
c.4816G>A (p.Val1606Met)
c.2506G>A (p.Val836Met)
n.7205G>A
 gnomAD v4
18g.23907857G>CCA402053415LAMA3c.2110G>C (p.Val704Leu)
c.6937G>C (p.Val2313Leu)
c.3611-1296G>C (n.3611-1296G>C)
c.6769G>C (p.Val2257Leu)
c.1715G>C
c.1942G>C (p.Val648Leu)
n.1515G>C
c.6964G>C (p.Val2322Leu)
c.6955G>C (p.Val2319Leu)
c.6946G>C (p.Val2316Leu)
c.6832G>C (p.Val2278Leu)
c.6746-1296G>C (n.6746-1296G>C)
c.4816G>C (p.Val1606Leu)
c.2506G>C (p.Val836Leu)
n.7205G>C
18g.23907857G>TCA402053417LAMA3c.2110G>T (p.Val704Leu)
c.6937G>T (p.Val2313Leu)
c.3611-1296G>T (n.3611-1296G>T)
c.6769G>T (p.Val2257Leu)
c.1715G>T
c.1942G>T (p.Val648Leu)
n.1515G>T
c.6964G>T (p.Val2322Leu)
c.6955G>T (p.Val2319Leu)
c.6946G>T (p.Val2316Leu)
c.6832G>T (p.Val2278Leu)
c.6746-1296G>T (n.6746-1296G>T)
c.4816G>T (p.Val1606Leu)
c.2506G>T (p.Val836Leu)
n.7205G>T
18g.23907858T>ACA402053420LAMA3c.2111T>A (p.Val704Glu)
c.6938T>A (p.Val2313Glu)
c.3611-1295T>A (n.3611-1295T>A)
c.6770T>A (p.Val2257Glu)
c.1716T>A
c.1943T>A (p.Val648Glu)
n.1516T>A
c.6965T>A (p.Val2322Glu)
c.6956T>A (p.Val2319Glu)
c.6947T>A (p.Val2316Glu)
c.6833T>A (p.Val2278Glu)
c.6746-1295T>A (n.6746-1295T>A)
c.4817T>A (p.Val1606Glu)
c.2507T>A (p.Val836Glu)
n.7206T>A
18g.23907858T>CCA402053421LAMA3c.2111T>C (p.Val704Ala)
c.6938T>C (p.Val2313Ala)
c.3611-1295T>C (n.3611-1295T>C)
c.6770T>C (p.Val2257Ala)
c.1716T>C
c.1943T>C (p.Val648Ala)
n.1516T>C
c.6965T>C (p.Val2322Ala)
c.6956T>C (p.Val2319Ala)
c.6947T>C (p.Val2316Ala)
c.6833T>C (p.Val2278Ala)
c.6746-1295T>C (n.6746-1295T>C)
c.4817T>C (p.Val1606Ala)
c.2507T>C (p.Val836Ala)
n.7206T>C
18g.23907858T>GCA402053424LAMA3c.2111T>G (p.Val704Gly)
c.6938T>G (p.Val2313Gly)
c.3611-1295T>G (n.3611-1295T>G)
c.6770T>G (p.Val2257Gly)
c.1716T>G
c.1943T>G (p.Val648Gly)
n.1516T>G
c.6965T>G (p.Val2322Gly)
c.6956T>G (p.Val2319Gly)
c.6947T>G (p.Val2316Gly)
c.6833T>G (p.Val2278Gly)
c.6746-1295T>G (n.6746-1295T>G)
c.4817T>G (p.Val1606Gly)
c.2507T>G (p.Val836Gly)
n.7206T>G
18g.23907859G>ACA503337522LAMA3c.2112G>A (p.Val704=)
c.6939G>A (p.Val2313=)
c.3611-1294G>A (n.3611-1294G>A)
c.6771G>A (p.Val2257=)
c.1717G>A
c.1944G>A (p.Val648=)
n.1517G>A
c.6966G>A (p.Val2322=)
c.6957G>A (p.Val2319=)
c.6948G>A (p.Val2316=)
c.6834G>A (p.Val2278=)
c.6746-1294G>A (n.6746-1294G>A)
c.4818G>A (p.Val1606=)
c.2508G>A (p.Val836=)
n.7207G>A
18g.23907859G>CCA503337523LAMA3c.2112G>C (p.Val704=)
c.6939G>C (p.Val2313=)
c.3611-1294G>C (n.3611-1294G>C)
c.6771G>C (p.Val2257=)
c.1717G>C
c.1944G>C (p.Val648=)
n.1517G>C
c.6966G>C (p.Val2322=)
c.6957G>C (p.Val2319=)
c.6948G>C (p.Val2316=)
c.6834G>C (p.Val2278=)
c.6746-1294G>C (n.6746-1294G>C)
c.4818G>C (p.Val1606=)
c.2508G>C (p.Val836=)
n.7207G>C
18g.23907859G>TCA503337524LAMA3c.2112G>T (p.Val704=)
c.6939G>T (p.Val2313=)
c.3611-1294G>T (n.3611-1294G>T)
c.6771G>T (p.Val2257=)
c.1717G>T
c.1944G>T (p.Val648=)
n.1517G>T
c.6966G>T (p.Val2322=)
c.6957G>T (p.Val2319=)
c.6948G>T (p.Val2316=)
c.6834G>T (p.Val2278=)
c.6746-1294G>T (n.6746-1294G>T)
c.4818G>T (p.Val1606=)
c.2508G>T (p.Val836=)
n.7207G>T
18g.23907860G>ACA402053425LAMA3c.2113G>A (p.Glu705Lys)
c.6940G>A (p.Glu2314Lys)
c.3611-1293G>A (n.3611-1293G>A)
c.6772G>A (p.Glu2258Lys)
c.1718G>A
c.1945G>A (p.Glu649Lys)
n.1518G>A
c.6967G>A (p.Glu2323Lys)
c.6958G>A (p.Glu2320Lys)
c.6949G>A (p.Glu2317Lys)
c.6835G>A (p.Glu2279Lys)
c.6746-1293G>A (n.6746-1293G>A)
c.4819G>A (p.Glu1607Lys)
c.2509G>A (p.Glu837Lys)
n.7208G>A
18g.23907860G>CCA297104865LAMA3c.2113G>C (p.Glu705Gln)
c.6940G>C (p.Glu2314Gln)
c.3611-1293G>C (n.3611-1293G>C)
c.6772G>C (p.Glu2258Gln)
c.1718G>C
c.1945G>C (p.Glu649Gln)
n.1518G>C
c.6967G>C (p.Glu2323Gln)
c.6958G>C (p.Glu2320Gln)
c.6949G>C (p.Glu2317Gln)
c.6835G>C (p.Glu2279Gln)
c.6746-1293G>C (n.6746-1293G>C)
c.4819G>C (p.Glu1607Gln)
c.2509G>C (p.Glu837Gln)
n.7208G>C
 dbSNP gnomAD v2 gnomAD v4
18g.23907860G=CA2290326008LAMA3c.2113G= (p.Glu705=)
c.6940G= (p.Glu2314=)
c.3611-1293G= (n.3611-1293G=)
c.6772G= (p.Glu2258=)
c.1718G=
c.1945G= (p.Glu649=)
n.1518G=
c.6967G= (p.Glu2323=)
c.6958G= (p.Glu2320=)
c.6949G= (p.Glu2317=)
c.6835G= (p.Glu2279=)
c.6746-1293G= (n.6746-1293G=)
c.4819G= (p.Glu1607=)
c.2509G= (p.Glu837=)
n.7208G=
18g.23907860G>TCA402053428LAMA3c.2113G>T (p.Glu705Ter)
c.6940G>T (p.Glu2314Ter)
c.3611-1293G>T (n.3611-1293G>T)
c.6772G>T (p.Glu2258Ter)
c.1718G>T
c.1945G>T (p.Glu649Ter)
n.1518G>T
c.6967G>T (p.Glu2323Ter)
c.6958G>T (p.Glu2320Ter)
c.6949G>T (p.Glu2317Ter)
c.6835G>T (p.Glu2279Ter)
c.6746-1293G>T (n.6746-1293G>T)
c.4819G>T (p.Glu1607Ter)
c.2509G>T (p.Glu837Ter)
n.7208G>T
18g.23907863_23907866delCA2641295289LAMA3c.2116_2119del (p.Arg706LeufsTer17)
c.6943_6946del (p.Arg2315LeufsTer17)
c.3611-1290_3611-1287del (n.3611-1290_3611-1287del)
c.6775_6778del (p.Arg2259LeufsTer17)
c.1721_1724del
c.1948_1951del (p.Arg650LeufsTer17)
n.1521_1524del
c.6970_6973del (p.Arg2324LeufsTer17)
c.6961_6964del (p.Arg2321LeufsTer17)
c.6952_6955del (p.Arg2318LeufsTer17)
c.6838_6841del (p.Arg2280LeufsTer17)
c.6746-1290_6746-1287del (n.6746-1290_6746-1287del)
c.4822_4825del (p.Arg1608LeufsTer17)
c.2512_2515del (p.Arg838LeufsTer17)
n.7211_7214del
 gnomAD v4
18g.23907861A>CCA402053430LAMA3c.2114A>C (p.Glu705Ala)
c.6941A>C (p.Glu2314Ala)
c.3611-1292A>C (n.3611-1292A>C)
c.6773A>C (p.Glu2258Ala)
c.1719A>C
c.1946A>C (p.Glu649Ala)
n.1519A>C
c.6968A>C (p.Glu2323Ala)
c.6959A>C (p.Glu2320Ala)
c.6950A>C (p.Glu2317Ala)
c.6836A>C (p.Glu2279Ala)
c.6746-1292A>C (n.6746-1292A>C)
c.4820A>C (p.Glu1607Ala)
c.2510A>C (p.Glu837Ala)
n.7209A>C
18g.23907861A>GCA402053431LAMA3c.2114A>G (p.Glu705Gly)
c.6941A>G (p.Glu2314Gly)
c.3611-1292A>G (n.3611-1292A>G)
c.6773A>G (p.Glu2258Gly)
c.1719A>G
c.1946A>G (p.Glu649Gly)
n.1519A>G
c.6968A>G (p.Glu2323Gly)
c.6959A>G (p.Glu2320Gly)
c.6950A>G (p.Glu2317Gly)
c.6836A>G (p.Glu2279Gly)
c.6746-1292A>G (n.6746-1292A>G)
c.4820A>G (p.Glu1607Gly)
c.2510A>G (p.Glu837Gly)
n.7209A>G
18g.23907861A>TCA402053433LAMA3c.2114A>T (p.Glu705Val)
c.6941A>T (p.Glu2314Val)
c.3611-1292A>T (n.3611-1292A>T)
c.6773A>T (p.Glu2258Val)
c.1719A>T
c.1946A>T (p.Glu649Val)
n.1519A>T
c.6968A>T (p.Glu2323Val)
c.6959A>T (p.Glu2320Val)
c.6950A>T (p.Glu2317Val)
c.6836A>T (p.Glu2279Val)
c.6746-1292A>T (n.6746-1292A>T)
c.4820A>T (p.Glu1607Val)
c.2510A>T (p.Glu837Val)
n.7209A>T
18g.23907862A>CCA402053437LAMA3c.2115A>C (p.Glu705Asp)
c.6942A>C (p.Glu2314Asp)
c.3611-1291A>C (n.3611-1291A>C)
c.6774A>C (p.Glu2258Asp)
c.1720A>C
c.1947A>C (p.Glu649Asp)
n.1520A>C
c.6969A>C (p.Glu2323Asp)
c.6960A>C (p.Glu2320Asp)
c.6951A>C (p.Glu2317Asp)
c.6837A>C (p.Glu2279Asp)
c.6746-1291A>C (n.6746-1291A>C)
c.4821A>C (p.Glu1607Asp)
c.2511A>C (p.Glu837Asp)
n.7210A>C
18g.23907862A>GCA503337525LAMA3c.2115A>G (p.Glu705=)
c.6942A>G (p.Glu2314=)
c.3611-1291A>G (n.3611-1291A>G)
c.6774A>G (p.Glu2258=)
c.1720A>G
c.1947A>G (p.Glu649=)
n.1520A>G
c.6969A>G (p.Glu2323=)
c.6960A>G (p.Glu2320=)
c.6951A>G (p.Glu2317=)
c.6837A>G (p.Glu2279=)
c.6746-1291A>G (n.6746-1291A>G)
c.4821A>G (p.Glu1607=)
c.2511A>G (p.Glu837=)
n.7210A>G
18g.23907862A>TCA402053436LAMA3c.2115A>T (p.Glu705Asp)
c.6942A>T (p.Glu2314Asp)
c.3611-1291A>T (n.3611-1291A>T)
c.6774A>T (p.Glu2258Asp)
c.1720A>T
c.1947A>T (p.Glu649Asp)
n.1520A>T
c.6969A>T (p.Glu2323Asp)
c.6960A>T (p.Glu2320Asp)
c.6951A>T (p.Glu2317Asp)
c.6837A>T (p.Glu2279Asp)
c.6746-1291A>T (n.6746-1291A>T)
c.4821A>T (p.Glu1607Asp)
c.2511A>T (p.Glu837Asp)
n.7210A>T
18g.23907863A=CA2290326009LAMA3c.2116A= (p.Arg706=)
c.6943A= (p.Arg2315=)
c.3611-1290A= (n.3611-1290A=)
c.6775A= (p.Arg2259=)
c.1721A=
c.1948A= (p.Arg650=)
n.1521A=
c.6970A= (p.Arg2324=)
c.6961A= (p.Arg2321=)
c.6952A= (p.Arg2318=)
c.6838A= (p.Arg2280=)
c.6746-1290A= (n.6746-1290A=)
c.4822A= (p.Arg1608=)
c.2512A= (p.Arg838=)
n.7211A=
18g.23907863A>CCA503337527LAMA3c.2116A>C (p.Arg706=)
c.6943A>C (p.Arg2315=)
c.3611-1290A>C (n.3611-1290A>C)
c.6775A>C (p.Arg2259=)
c.1721A>C
c.1948A>C (p.Arg650=)
n.1521A>C
c.6970A>C (p.Arg2324=)
c.6961A>C (p.Arg2321=)
c.6952A>C (p.Arg2318=)
c.6838A>C (p.Arg2280=)
c.6746-1290A>C (n.6746-1290A>C)
c.4822A>C (p.Arg1608=)
c.2512A>C (p.Arg838=)
n.7211A>C
18g.23907863A>GCA402053439LAMA3c.2116A>G (p.Arg706Gly)
c.6943A>G (p.Arg2315Gly)
c.3611-1290A>G (n.3611-1290A>G)
c.6775A>G (p.Arg2259Gly)
c.1721A>G
c.1948A>G (p.Arg650Gly)
n.1521A>G
c.6970A>G (p.Arg2324Gly)
c.6961A>G (p.Arg2321Gly)
c.6952A>G (p.Arg2318Gly)
c.6838A>G (p.Arg2280Gly)
c.6746-1290A>G (n.6746-1290A>G)
c.4822A>G (p.Arg1608Gly)
c.2512A>G (p.Arg838Gly)
n.7211A>G
18g.23907863A>TCA341811LAMA3c.2116A>T (p.Arg706Ter)
c.6943A>T (p.Arg2315Ter)
c.3611-1290A>T (n.3611-1290A>T)
c.6775A>T (p.Arg2259Ter)
c.1721A>T
c.1948A>T (p.Arg650Ter)
n.1521A>T
c.6970A>T (p.Arg2324Ter)
c.6961A>T (p.Arg2321Ter)
c.6952A>T (p.Arg2318Ter)
c.6838A>T (p.Arg2280Ter)
c.6746-1290A>T (n.6746-1290A>T)
c.4822A>T (p.Arg1608Ter)
c.2512A>T (p.Arg838Ter)
n.7211A>T
 ClinVar dbSNP
18g.23907864G>ACA402053443LAMA3c.2117G>A (p.Arg706Lys)
c.6944G>A (p.Arg2315Lys)
c.3611-1289G>A (n.3611-1289G>A)
c.6776G>A (p.Arg2259Lys)
c.1722G>A
c.1949G>A (p.Arg650Lys)
n.1522G>A
c.6971G>A (p.Arg2324Lys)
c.6962G>A (p.Arg2321Lys)
c.6953G>A (p.Arg2318Lys)
c.6839G>A (p.Arg2280Lys)
c.6746-1289G>A (n.6746-1289G>A)
c.4823G>A (p.Arg1608Lys)
c.2513G>A (p.Arg838Lys)
n.7212G>A
 gnomAD v4 COSMIC COSMIC
18g.23907864G>CCA402053445LAMA3c.2117G>C (p.Arg706Thr)
c.6944G>C (p.Arg2315Thr)
c.3611-1289G>C (n.3611-1289G>C)
c.6776G>C (p.Arg2259Thr)
c.1722G>C
c.1949G>C (p.Arg650Thr)
n.1522G>C
c.6971G>C (p.Arg2324Thr)
c.6962G>C (p.Arg2321Thr)
c.6953G>C (p.Arg2318Thr)
c.6839G>C (p.Arg2280Thr)
c.6746-1289G>C (n.6746-1289G>C)
c.4823G>C (p.Arg1608Thr)
c.2513G>C (p.Arg838Thr)
n.7212G>C
 gnomAD v4
18g.23907864G>TCA402053446LAMA3c.2117G>T (p.Arg706Ile)
c.6944G>T (p.Arg2315Ile)
c.3611-1289G>T (n.3611-1289G>T)
c.6776G>T (p.Arg2259Ile)
c.1722G>T
c.1949G>T (p.Arg650Ile)
n.1522G>T
c.6971G>T (p.Arg2324Ile)
c.6962G>T (p.Arg2321Ile)
c.6953G>T (p.Arg2318Ile)
c.6839G>T (p.Arg2280Ile)
c.6746-1289G>T (n.6746-1289G>T)
c.4823G>T (p.Arg1608Ile)
c.2513G>T (p.Arg838Ile)
n.7212G>T
 COSMIC COSMIC
18g.23907865A>CCA402053447LAMA3c.2118A>C (p.Arg706Ser)
c.6945A>C (p.Arg2315Ser)
c.3611-1288A>C (n.3611-1288A>C)
c.6777A>C (p.Arg2259Ser)
c.1723A>C
c.1950A>C (p.Arg650Ser)
n.1523A>C
c.6972A>C (p.Arg2324Ser)
c.6963A>C (p.Arg2321Ser)
c.6954A>C (p.Arg2318Ser)
c.6840A>C (p.Arg2280Ser)
c.6746-1288A>C (n.6746-1288A>C)
c.4824A>C (p.Arg1608Ser)
c.2514A>C (p.Arg838Ser)
n.7213A>C
18g.23907865A>GCA503337528LAMA3c.2118A>G (p.Arg706=)
c.6945A>G (p.Arg2315=)
c.3611-1288A>G (n.3611-1288A>G)
c.6777A>G (p.Arg2259=)
c.1723A>G
c.1950A>G (p.Arg650=)
n.1523A>G
c.6972A>G (p.Arg2324=)
c.6963A>G (p.Arg2321=)
c.6954A>G (p.Arg2318=)
c.6840A>G (p.Arg2280=)
c.6746-1288A>G (n.6746-1288A>G)
c.4824A>G (p.Arg1608=)
c.2514A>G (p.Arg838=)
n.7213A>G
18g.23907865A>TCA402053449LAMA3c.2118A>T (p.Arg706Ser)
c.6945A>T (p.Arg2315Ser)
c.3611-1288A>T (n.3611-1288A>T)
c.6777A>T (p.Arg2259Ser)
c.1723A>T
c.1950A>T (p.Arg650Ser)
n.1523A>T
c.6972A>T (p.Arg2324Ser)
c.6963A>T (p.Arg2321Ser)
c.6954A>T (p.Arg2318Ser)
c.6840A>T (p.Arg2280Ser)
c.6746-1288A>T (n.6746-1288A>T)
c.4824A>T (p.Arg1608Ser)
c.2514A>T (p.Arg838Ser)
n.7213A>T

Number of alleles fetched