| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49122904_49122905del | CA1363339711 | LAMB2 | c.4378_4379del (p.Gln1460GlyfsTer12) n.687_688del | dbSNP |
| 3 | g.49122903G>A | CA433634189 | LAMB2 | c.4374C>T (p.His1458=) n.683C>T | |
| 3 | g.49122903G>C | CA352693633 | LAMB2 | c.4374C>G (p.His1458Gln) n.683C>G | |
| 3 | g.49122903G>T | CA352693643 | LAMB2 | c.4374C>A (p.His1458Gln) n.683C>A | gnomAD v4 |
| 3 | g.49122904T>A | CA352693646 | LAMB2 | c.4373A>T (p.His1458Leu) n.682A>T | |
| 3 | g.49122904T>C | CA352693661 | LAMB2 | c.4373A>G (p.His1458Arg) n.682A>G | dbSNP |
| 3 | g.49122904T>G | CA352693651 | LAMB2 | c.4373A>C (p.His1458Pro) n.682A>C | |
| 3 | g.49122904T= | CA1363339718 | LAMB2 | c.4373A= (p.His1458=) n.682A= | |
| 3 | g.49122905G>A | CA352693665 | LAMB2 | c.4372C>T (p.His1458Tyr) n.681C>T | gnomAD v4 |
| 3 | g.49122905G>C | CA352693692 | LAMB2 | c.4372C>G (p.His1458Asp) n.681C>G | |
| 3 | g.49122905G>T | CA352693674 | LAMB2 | c.4372C>A (p.His1458Asn) n.681C>A | gnomAD v4 |
| 3 | g.49122906C>A | CA433634196 | LAMB2 | c.4371G>T (p.Arg1457=) n.680G>T | |
| 3 | g.49122906C>G | CA433634195 | LAMB2 | c.4371G>C (p.Arg1457=) n.680G>C | |
| 3 | g.49122906C>T | CA433634194 | LAMB2 | c.4371G>A (p.Arg1457=) n.680G>A | gnomAD v4 |
| 3 | g.49122907C>A | CA352693701 | LAMB2 | c.4370G>T (p.Arg1457Leu) n.679G>T | dbSNP gnomAD v2 |
| 3 | g.49122907C= | CA1363339722 | LAMB2 | c.4370G= (p.Arg1457=) n.679G= | |
| 3 | g.49122907C>G | CA352693704 | LAMB2 | c.4370G>C (p.Arg1457Pro) n.679G>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122907C>T | CA2393803 | LAMB2 | c.4370G>A (p.Arg1457Gln) n.679G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122908G>A | CA2393804 | LAMB2 | c.4369C>T (p.Arg1457Trp) n.678C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122908G>C | CA352693708 | LAMB2 | c.4369C>G (p.Arg1457Gly) n.678C>G | gnomAD v4 |
| 3 | g.49122908G= | CA1363339724 | LAMB2 | c.4369C= (p.Arg1457=) n.678C= | |
| 3 | g.49122908G>T | CA433634197 | LAMB2 | c.4369C>A (p.Arg1457=) n.678C>A | gnomAD v4 |
| 3 | g.49122909G>A | CA433634198 | LAMB2 | c.4368C>T (p.Ala1456=) n.677C>T | |
| 3 | g.49122909G>C | CA433634200 | LAMB2 | c.4368C>G (p.Ala1456=) n.677C>G | |
| 3 | g.49122909G>T | CA433634199 | LAMB2 | c.4368C>A (p.Ala1456=) n.677C>A | |
| 3 | g.49122910G>A | CA74476527 | LAMB2 | c.4367C>T (p.Ala1456Val) n.676C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122910G>C | CA352693737 | LAMB2 | c.4367C>G (p.Ala1456Gly) n.676C>G | |
| 3 | g.49122910G= | CA1363339727 | LAMB2 | c.4367C= (p.Ala1456=) n.676C= | |
| 3 | g.49122910G>T | CA352693741 | LAMB2 | c.4367C>A (p.Ala1456Asp) n.676C>A | gnomAD v4 |
| 3 | g.49122911C>A | CA352693751 | LAMB2 | c.4366G>T (p.Ala1456Ser) n.675G>T | |
| 3 | g.49122911C>G | CA352693752 | LAMB2 | c.4366G>C (p.Ala1456Pro) n.675G>C | |
| 3 | g.49122911C>T | CA352693753 | LAMB2 | c.4366G>A (p.Ala1456Thr) n.675G>A | gnomAD v4 |
| 3 | g.49122912C>A | CA433634202 | LAMB2 | c.4365G>T (p.Arg1455=) n.674G>T | gnomAD v4 |
| 3 | g.49122912C>G | CA433634203 | LAMB2 | c.4365G>C (p.Arg1455=) n.674G>C | |
| 3 | g.49122912C>T | CA433634204 | LAMB2 | c.4365G>A (p.Arg1455=) n.674G>A | |
| 3 | g.49122913C>A | CA352693763 | LAMB2 | c.4364G>T (p.Arg1455Leu) n.673G>T | |
| 3 | g.49122913C= | CA1363339730 | LAMB2 | c.4364G= (p.Arg1455=) n.673G= | |
| 3 | g.49122913C>G | CA352693760 | LAMB2 | c.4364G>C (p.Arg1455Pro) n.673G>C | ClinVar |
| 3 | g.49122913C>T | CA2393805 | LAMB2 | c.4364G>A (p.Arg1455Gln) n.673G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122914G>A | CA74476534 | LAMB2 | c.4363C>T (p.Arg1455Trp) n.672C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49122914G>C | CA352693764 | LAMB2 | c.4363C>G (p.Arg1455Gly) n.672C>G | |
| 3 | g.49122914G= | CA1363339732 | LAMB2 | c.4363C= (p.Arg1455=) n.672C= | |
| 3 | g.49122914G>T | CA433634205 | LAMB2 | c.4363C>A (p.Arg1455=) n.672C>A | |
| 3 | g.49122915G>A | CA433634206 | LAMB2 | c.4362C>T (p.Gly1454=) n.671C>T | gnomAD v4 |
| 3 | g.49122915G>C | CA433634208 | LAMB2 | c.4362C>G (p.Gly1454=) n.671C>G | |
| 3 | g.49122915G>T | CA433634210 | LAMB2 | c.4362C>A (p.Gly1454=) n.671C>A | |
| 3 | g.49122916C>A | CA352693766 | LAMB2 | c.4361G>T (p.Gly1454Val) n.670G>T | |
| 3 | g.49122916C>G | CA352693770 | LAMB2 | c.4361G>C (p.Gly1454Ala) n.670G>C | |
| 3 | g.49122916C>T | CA352693781 | LAMB2 | c.4361G>A (p.Gly1454Asp) n.670G>A | |
| 3 | g.49122917C>A | CA352693783 | LAMB2 | c.4360G>T (p.Gly1454Cys) n.669G>T | |
| 3 | g.49122917C>G | CA352693786 | LAMB2 | c.4360G>C (p.Gly1454Arg) n.669G>C | |
| 3 | g.49122917C>T | CA352693788 | LAMB2 | c.4360G>A (p.Gly1454Ser) n.669G>A | |
| 3 | g.49122918C>A | CA433634212 | LAMB2 | c.4359G>T (p.Leu1453=) n.668G>T | |
| 3 | g.49122918C>G | CA433634213 | LAMB2 | c.4359G>C (p.Leu1453=) n.668G>C | |
| 3 | g.49122918C>T | CA433634214 | LAMB2 | c.4359G>A (p.Leu1453=) n.668G>A | |
| 3 | g.49122919A= | CA1363339733 | LAMB2 | c.4358T= (p.Leu1453=) n.667T= | |
| 3 | g.49122919A>C | CA352693790 | LAMB2 | c.4358T>G (p.Leu1453Arg) n.667T>G | |
| 3 | g.49122919A>G | CA352693793 | LAMB2 | c.4358T>C (p.Leu1453Pro) n.667T>C | dbSNP |
| 3 | g.49122919A>T | CA352693806 | LAMB2 | c.4358T>A (p.Leu1453Gln) n.667T>A | |
| 3 | g.49122920G>A | CA433634215 | LAMB2 | c.4357C>T (p.Leu1453=) n.666C>T | |
| 3 | g.49122920G>C | CA352693827 | LAMB2 | c.4357C>G (p.Leu1453Val) n.666C>G | gnomAD v4 |
| 3 | g.49122920G>T | CA352693822 | LAMB2 | c.4357C>A (p.Leu1453Met) n.666C>A | gnomAD v4 |
| 3 | g.49122921T>A | CA74476535 | LAMB2 | c.4356A>T (p.Ala1452=) n.665A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122921T>C | CA433634219 | LAMB2 | c.4356A>G (p.Ala1452=) n.665A>G | |
| 3 | g.49122921T>G | CA433634220 | LAMB2 | c.4356A>C (p.Ala1452=) n.665A>C | |
| 3 | g.49122921T= | CA1363339735 | LAMB2 | c.4356A= (p.Ala1452=) n.665A= | |
| 3 | g.49122922G>A | CA352693837 | LAMB2 | c.4355C>T (p.Ala1452Val) n.664C>T | |
| 3 | g.49122922G>C | CA352693838 | LAMB2 | c.4355C>G (p.Ala1452Gly) n.664C>G | |
| 3 | g.49122922G>T | CA352693839 | LAMB2 | c.4355C>A (p.Ala1452Glu) n.664C>A | gnomAD v4 |
| 3 | g.49122923C>A | CA352693840 | LAMB2 | c.4354G>T (p.Ala1452Ser) n.663G>T | |
| 3 | g.49122923C>G | CA352693841 | LAMB2 | c.4354G>C (p.Ala1452Pro) n.663G>C | |
| 3 | g.49122923C>T | CA352693842 | LAMB2 | c.4354G>A (p.Ala1452Thr) n.663G>A | |
| 3 | g.49122924T>A | CA433634221 | LAMB2 | c.4353A>T (p.Leu1451=) n.662A>T | |
| 3 | g.49122924T>C | CA433634223 | LAMB2 | c.4353A>G (p.Leu1451=) n.662A>G | |
| 3 | g.49122924T>G | CA433634222 | LAMB2 | c.4353A>C (p.Leu1451=) n.662A>C | |
| 3 | g.49122925A>C | CA352693844 | LAMB2 | c.4352T>G (p.Leu1451Arg) n.661T>G | |
| 3 | g.49122925A>G | CA352693851 | LAMB2 | c.4352T>C (p.Leu1451Pro) n.661T>C | |
| 3 | g.49122925A>T | CA352693847 | LAMB2 | c.4352T>A (p.Leu1451Gln) n.661T>A | |
| 3 | g.49122926G>A | CA433634225 | LAMB2 | c.4351C>T (p.Leu1451=) n.660C>T | gnomAD v4 |
| 3 | g.49122926G>C | CA352693864 | LAMB2 | c.4351C>G (p.Leu1451Val) n.660C>G | dbSNP |
| 3 | g.49122926G= | CA1363339737 | LAMB2 | c.4351C= (p.Leu1451=) n.660C= | |
| 3 | g.49122926G>T | CA352693866 | LAMB2 | c.4351C>A (p.Leu1451Ile) n.660C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122927G>A | CA433634226 | LAMB2 | c.4350C>T (p.Asp1450=) n.659C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122927G>C | CA352693871 | LAMB2 | c.4350C>G (p.Asp1450Glu) n.659C>G | |
| 3 | g.49122927G= | CA1363339738 | LAMB2 | c.4350C= (p.Asp1450=) n.659C= | |
| 3 | g.49122927G>T | CA352693874 | LAMB2 | c.4350C>A (p.Asp1450Glu) n.659C>A | gnomAD v4 |
| 3 | g.49122928T>A | CA352693877 | LAMB2 | c.4349A>T (p.Asp1450Val) n.658A>T | |
| 3 | g.49122928T>C | CA352693884 | LAMB2 | c.4349A>G (p.Asp1450Gly) n.658A>G | ClinVar dbSNP |
| 3 | g.49122928T>G | CA352693880 | LAMB2 | c.4349A>C (p.Asp1450Ala) n.658A>C | |
| 3 | g.49122929C>A | CA352693892 | LAMB2 | c.4348G>T (p.Asp1450Tyr) n.657G>T | gnomAD v4 |
| 3 | g.49122929C>G | CA352693899 | LAMB2 | c.4348G>C (p.Asp1450His) n.657G>C | |
| 3 | g.49122929C>T | CA352693904 | LAMB2 | c.4348G>A (p.Asp1450Asn) n.657G>A | |
| 3 | g.49122930T>A | CA433634227 | LAMB2 | c.4347A>T (p.Ala1449=) n.656A>T | |
| 3 | g.49122930T>C | CA433634228 | LAMB2 | c.4347A>G (p.Ala1449=) n.656A>G | |
| 3 | g.49122930T>G | CA2393806 | LAMB2 | c.4347A>C (p.Ala1449=) n.656A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122930T= | CA1363339740 | LAMB2 | c.4347A= (p.Ala1449=) n.656A= | |
| 3 | g.49122931G>A | CA352693911 | LAMB2 | c.4346C>T (p.Ala1449Val) n.655C>T | gnomAD v4 |
| 3 | g.49122931G>C | CA352693915 | LAMB2 | c.4346C>G (p.Ala1449Gly) n.655C>G | |
| 3 | g.49122931G>T | CA352693916 | LAMB2 | c.4346C>A (p.Ala1449Glu) n.655C>A | gnomAD v4 |
| 3 | g.49122932C>A | CA352693927 | LAMB2 | c.4345G>T (p.Ala1449Ser) n.654G>T | |
| 3 | g.49122932C>G | CA352693931 | LAMB2 | c.4345G>C (p.Ala1449Pro) n.654G>C | |
| 3 | g.49122932C>T | CA352693932 | LAMB2 | c.4345G>A (p.Ala1449Thr) n.654G>A | |
| 3 | g.49122932_49122933insCA | CA2531236265 | LAMB2 | c.4344_4345insTG (p.Ala1449TrpfsTer4) n.653_654insTG | |
| 3 | g.49122933T>A | CA433634230 | LAMB2 | c.4344A>T (p.Thr1448=) n.653A>T | |
| 3 | g.49122933T>C | CA433634231 | LAMB2 | c.4344A>G (p.Thr1448=) n.653A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122933T>G | CA433634232 | LAMB2 | c.4344A>C (p.Thr1448=) n.653A>C | |
| 3 | g.49122933T= | CA1363339743 | LAMB2 | c.4344A= (p.Thr1448=) n.653A= | |
| 3 | g.49122934G>A | CA2393807 | LAMB2 | c.4343C>T (p.Thr1448Ile) n.652C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49122934G>C | CA352693943 | LAMB2 | c.4343C>G (p.Thr1448Arg) n.652C>G | |
| 3 | g.49122934G= | CA1363339745 | LAMB2 | c.4343C= (p.Thr1448=) n.652C= | |
| 3 | g.49122934G>T | CA352693936 | LAMB2 | c.4343C>A (p.Thr1448Lys) n.652C>A | gnomAD v4 |
| 3 | g.49122935T>A | CA352693957 | LAMB2 | c.4342A>T (p.Thr1448Ser) n.651A>T | |
| 3 | g.49122935T>C | CA2393808 | LAMB2 | c.4342A>G (p.Thr1448Ala) n.651A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49122935T>G | CA352693980 | LAMB2 | c.4342A>C (p.Thr1448Pro) n.651A>C | |
| 3 | g.49122935T= | CA1363339748 | LAMB2 | c.4342A= (p.Thr1448=) n.651A= | |
| 3 | g.49122935_49122936del | CA2558497053 | LAMB2 | c.4341_4342del (p.Thr1448SerfsTer24) n.650_651del | |
| 3 | g.49122936A= | CA1363339749 | LAMB2 | c.4341T= (p.Ala1447=) n.650T= | |
| 3 | g.49122936A>C | CA433634233 | LAMB2 | c.4341T>G (p.Ala1447=) n.650T>G | |
| 3 | g.49122936A>G | CA74476556 | LAMB2 | c.4341T>C (p.Ala1447=) n.650T>C | dbSNP gnomAD v4 |
| 3 | g.49122936A>T | CA433634235 | LAMB2 | c.4341T>A (p.Ala1447=) n.650T>A | |
| 3 | g.49122937G>A | CA352693998 | LAMB2 | c.4340C>T (p.Ala1447Val) n.649C>T | gnomAD v4 |
| 3 | g.49122937G>C | CA352694005 | LAMB2 | c.4340C>G (p.Ala1447Gly) n.649C>G | |
| 3 | g.49122937G>T | CA352694009 | LAMB2 | c.4340C>A (p.Ala1447Asp) n.649C>A | gnomAD v4 |
| 3 | g.49122938C>A | CA352694021 | LAMB2 | c.4339G>T (p.Ala1447Ser) n.648G>T | |
| 3 | g.49122938C= | CA1363339751 | LAMB2 | c.4339G= (p.Ala1447=) n.648G= | |
| 3 | g.49122938C>G | CA352694027 | LAMB2 | c.4339G>C (p.Ala1447Pro) n.648G>C | |
| 3 | g.49122938C>T | CA352694029 | LAMB2 | c.4339G>A (p.Ala1447Thr) n.648G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122939C>A | CA433634238 | LAMB2 | c.4338G>T (p.Ala1446=) n.647G>T | |
| 3 | g.49122939C= | CA1363339753 | LAMB2 | c.4338G= (p.Ala1446=) n.647G= | |
| 3 | g.49122939C>G | CA433634240 | LAMB2 | c.4338G>C (p.Ala1446=) n.647G>C | |
| 3 | g.49122939C>T | CA2393809 | LAMB2 | c.4338G>A (p.Ala1446=) n.647G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122940G>A | CA2393810 | LAMB2 | c.4337C>T (p.Ala1446Val) n.646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49122940G>C | CA352694036 | LAMB2 | c.4337C>G (p.Ala1446Gly) n.646C>G | gnomAD v4 |
| 3 | g.49122940G= | CA1363339755 | LAMB2 | c.4337C= (p.Ala1446=) n.646C= | |
| 3 | g.49122940G>T | CA352694041 | LAMB2 | c.4337C>A (p.Ala1446Glu) n.646C>A | gnomAD v4 |
| 3 | g.49122941C>A | CA352694049 | LAMB2 | c.4336G>T (p.Ala1446Ser) n.645G>T | |
| 3 | g.49122941C>G | CA352694046 | LAMB2 | c.4336G>C (p.Ala1446Pro) n.645G>C | |
| 3 | g.49122941C>T | CA352694044 | LAMB2 | c.4336G>A (p.Ala1446Thr) n.645G>A | |
| 3 | g.49122942T>A | CA433634241 | LAMB2 | c.4335A>T (p.Ala1445=) n.644A>T | |
| 3 | g.49122942T>C | CA433634242 | LAMB2 | c.4335A>G (p.Ala1445=) n.644A>G | |
| 3 | g.49122942T>G | CA433634243 | LAMB2 | c.4335A>C (p.Ala1445=) n.644A>C | |
| 3 | g.49122943G>A | CA352694057 | LAMB2 | c.4334C>T (p.Ala1445Val) n.643C>T | gnomAD v4 |
| 3 | g.49122943G>C | CA352694061 | LAMB2 | c.4334C>G (p.Ala1445Gly) n.643C>G | |
| 3 | g.49122943G>T | CA352694069 | LAMB2 | c.4334C>A (p.Ala1445Glu) n.643C>A | gnomAD v4 COSMIC |
| 3 | g.49122944C>A | CA352694076 | LAMB2 | c.4333G>T (p.Ala1445Ser) n.642G>T | |
| 3 | g.49122944C>G | CA352694084 | LAMB2 | c.4333G>C (p.Ala1445Pro) n.642G>C | |
| 3 | g.49122944C>T | CA352694086 | LAMB2 | c.4333G>A (p.Ala1445Thr) n.642G>A | gnomAD v4 |
| 3 | g.49122945C>A | CA433634249 | LAMB2 | c.4332G>T (p.Gly1444=) n.641G>T | |
| 3 | g.49122945C= | CA1363339757 | LAMB2 | c.4332G= (p.Gly1444=) n.641G= | |
| 3 | g.49122945C>G | CA433634248 | LAMB2 | c.4332G>C (p.Gly1444=) n.641G>C | |
| 3 | g.49122945C>T | CA433634247 | LAMB2 | c.4332G>A (p.Gly1444=) n.641G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122946C>A | CA352694089 | LAMB2 | c.4331G>T (p.Gly1444Val) n.640G>T | |
| 3 | g.49122946C= | CA1363339759 | LAMB2 | c.4331G= (p.Gly1444=) n.640G= | |
| 3 | g.49122946C>G | CA352694091 | LAMB2 | c.4331G>C (p.Gly1444Ala) n.640G>C | dbSNP |
| 3 | g.49122946C>T | CA352694093 | LAMB2 | c.4331G>A (p.Gly1444Glu) n.640G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122947C>A | CA352694096 | LAMB2 | c.4330G>T (p.Gly1444Trp) n.639G>T | |
| 3 | g.49122947C>G | CA352694098 | LAMB2 | c.4330G>C (p.Gly1444Arg) n.639G>C | |
| 3 | g.49122947C>T | CA352694101 | LAMB2 | c.4330G>A (p.Gly1444Arg) n.639G>A | |
| 3 | g.49122948A>C | CA352694106 | LAMB2 | c.4329T>G (p.Asn1443Lys) n.638T>G | |
| 3 | g.49122948A>G | CA433633906 | LAMB2 | c.4329T>C (p.Asn1443=) n.638T>C | |
| 3 | g.49122948A>T | CA352694105 | LAMB2 | c.4329T>A (p.Asn1443Lys) n.638T>A | |
| 3 | g.49122949T>A | CA352694109 | LAMB2 | c.4328A>T (p.Asn1443Ile) n.637A>T | |
| 3 | g.49122949T>C | CA352694111 | LAMB2 | c.4328A>G (p.Asn1443Ser) n.637A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122949T>G | CA352694121 | LAMB2 | c.4328A>C (p.Asn1443Thr) n.637A>C | |
| 3 | g.49122949T= | CA1363339760 | LAMB2 | c.4328A= (p.Asn1443=) n.637A= | |
| 3 | g.49122950T>A | CA352694124 | LAMB2 | c.4327A>T (p.Asn1443Tyr) n.636A>T | |
| 3 | g.49122950T>C | CA352694125 | LAMB2 | c.4327A>G (p.Asn1443Asp) n.636A>G | |
| 3 | g.49122950T>G | CA352694126 | LAMB2 | c.4327A>C (p.Asn1443His) n.636A>C | |
| 3 | g.49122950_49122953delinsTGCA | CA1363339762 | LAMB2 | c.4324_4327delinsTGCA (p.Cys1442=) n.633_636delinsTGCA | |
| 3 | g.49122951G>A | CA433633907 | LAMB2 | c.4326C>T (p.Cys1442=) n.635C>T | |
| 3 | g.49122951G>C | CA352694128 | LAMB2 | c.4326C>G (p.Cys1442Trp) n.635C>G | |
| 3 | g.49122951G>T | CA352694130 | LAMB2 | c.4326C>A (p.Cys1442Ter) n.635C>A | gnomAD v4 |
| 3 | g.49122953_49122955del | CA907804851 | LAMB2 | c.4324_4326del (p.Cys1442del) n.633_635del | dbSNP gnomAD v4 |
| 3 | g.49122952C>A | CA352694135 | LAMB2 | c.4325G>T (p.Cys1442Phe) n.634G>T | |
| 3 | g.49122952C= | CA1363339766 | LAMB2 | c.4325G= (p.Cys1442=) n.634G= | |
| 3 | g.49122952C>G | CA352694137 | LAMB2 | c.4325G>C (p.Cys1442Ser) n.634G>C | |
| 3 | g.49122952C>T | CA352694139 | LAMB2 | c.4325G>A (p.Cys1442Tyr) n.634G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122953A>C | CA352694143 | LAMB2 | c.4324T>G (p.Cys1442Gly) n.633T>G | |
| 3 | g.49122953A>G | CA352694148 | LAMB2 | c.4324T>C (p.Cys1442Arg) n.633T>C | |
| 3 | g.49122953A>T | CA352694152 | LAMB2 | c.4324T>A (p.Cys1442Ser) n.633T>A | |
| 3 | g.49122954G>A | CA433633908 | LAMB2 | c.4323C>T (p.Ser1441=) n.632C>T | dbSNP gnomAD v4 |
| 3 | g.49122954G>C | CA352694168 | LAMB2 | c.4323C>G (p.Ser1441Arg) n.632C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.49122954G= | CA1363339768 | LAMB2 | c.4323C= (p.Ser1441=) n.632C= | |
| 3 | g.49122954G>T | CA352694178 | LAMB2 | c.4323C>A (p.Ser1441Arg) n.632C>A | gnomAD v4 |
| 3 | g.49122955C>A | CA352694189 | LAMB2 | c.4322G>T (p.Ser1441Ile) n.631G>T | |
| 3 | g.49122955C>G | CA352694196 | LAMB2 | c.4322G>C (p.Ser1441Thr) n.631G>C | |
| 3 | g.49122955C>T | CA352694200 | LAMB2 | c.4322G>A (p.Ser1441Asn) n.631G>A | |
| 3 | g.49122956T>A | CA352694208 | LAMB2 | c.4321A>T (p.Ser1441Cys) n.630A>T | |
| 3 | g.49122956T>C | CA352694212 | LAMB2 | c.4321A>G (p.Ser1441Gly) n.630A>G | |
| 3 | g.49122956T>G | CA352694216 | LAMB2 | c.4321A>C (p.Ser1441Arg) n.630A>C | |
| 3 | g.49122957G>A | CA433633909 | LAMB2 | c.4320C>T (p.Leu1440=) n.629C>T | |
| 3 | g.49122957G>C | CA433633910 | LAMB2 | c.4320C>G (p.Leu1440=) n.629C>G | COSMIC |
| 3 | g.49122957G>T | CA433633911 | LAMB2 | c.4320C>A (p.Leu1440=) n.629C>A | gnomAD v4 |
| 3 | g.49122958A>C | CA352694221 | LAMB2 | c.4319T>G (p.Leu1440Arg) n.628T>G | |
| 3 | g.49122958A>G | CA352694222 | LAMB2 | c.4319T>C (p.Leu1440Pro) n.628T>C | |
| 3 | g.49122958A>T | CA352694223 | LAMB2 | c.4319T>A (p.Leu1440His) n.628T>A | |
| 3 | g.49122959G>A | CA352694225 | LAMB2 | c.4318C>T (p.Leu1440Phe) n.627C>T | |
| 3 | g.49122959G>C | CA352694227 | LAMB2 | c.4318C>G (p.Leu1440Val) n.627C>G | |
| 3 | g.49122959G>T | CA352694229 | LAMB2 | c.4318C>A (p.Leu1440Ile) n.627C>A | gnomAD v4 |
| 3 | g.49122960G>A | CA433633912 | LAMB2 | c.4317C>T (p.Gly1439=) n.626C>T | |
| 3 | g.49122960G>C | CA433633913 | LAMB2 | c.4317C>G (p.Gly1439=) n.626C>G | |
| 3 | g.49122960G= | CA1363339771 | LAMB2 | c.4317C= (p.Gly1439=) n.626C= | |
| 3 | g.49122960G>T | CA433633914 | LAMB2 | c.4317C>A (p.Gly1439=) n.626C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122961C>A | CA352694238 | LAMB2 | c.4316G>T (p.Gly1439Val) n.625G>T | |
| 3 | g.49122961C>G | CA352694237 | LAMB2 | c.4316G>C (p.Gly1439Ala) n.625G>C | |
| 3 | g.49122961C>T | CA352694233 | LAMB2 | c.4316G>A (p.Gly1439Asp) n.625G>A | |
| 3 | g.49122965dup | CA2665695425 | LAMB2 | c.4316dup (p.Leu1440ProfsTer?) n.625dup | gnomAD v4 |
| 3 | g.49122965del | CA2665695426 | LAMB2 | c.4316del (p.Gly1439AlafsTer13) n.625del | gnomAD v4 |
| 3 | g.49122962C>A | CA352694240 | LAMB2 | c.4315G>T (p.Gly1439Cys) n.624G>T | |
| 3 | g.49122962C= | CA1363339773 | LAMB2 | c.4315G= (p.Gly1439=) n.624G= | |
| 3 | g.49122962C>G | CA352694253 | LAMB2 | c.4315G>C (p.Gly1439Arg) n.624G>C | |
| 3 | g.49122962C>T | CA2393811 | LAMB2 | c.4315G>A (p.Gly1439Ser) n.624G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122963C>A | CA433633915 | LAMB2 | c.4314G>T (p.Gly1438=) n.623G>T | |
| 3 | g.49122963C= | CA1363339775 | LAMB2 | c.4314G= (p.Gly1438=) n.623G= | |
| 3 | g.49122963C>G | CA433633916 | LAMB2 | c.4314G>C (p.Gly1438=) n.623G>C | dbSNP |
| 3 | g.49122963C>T | CA433633917 | LAMB2 | c.4314G>A (p.Gly1438=) n.623G>A | |
| 3 | g.49122964C>A | CA352694258 | LAMB2 | c.4313G>T (p.Gly1438Val) n.622G>T | gnomAD v4 |
| 3 | g.49122964C>G | CA352694261 | LAMB2 | c.4313G>C (p.Gly1438Ala) n.622G>C | |
| 3 | g.49122964C>T | CA352694260 | LAMB2 | c.4313G>A (p.Gly1438Glu) n.622G>A | |
| 3 | g.49122965C>A | CA352694263 | LAMB2 | c.4312G>T (p.Gly1438Trp) n.621G>T | |
| 3 | g.49122965C>G | CA352694268 | LAMB2 | c.4312G>C (p.Gly1438Arg) n.621G>C | gnomAD v4 |
| 3 | g.49122965C>T | CA352694275 | LAMB2 | c.4312G>A (p.Gly1438Arg) n.621G>A | gnomAD v4 |
| 3 | g.49122966A>C | CA352694280 | LAMB2 | c.4311T>G (p.Cys1437Trp) n.620T>G | |
| 3 | g.49122966A>G | CA433633918 | LAMB2 | c.4311T>C (p.Cys1437=) n.620T>C | |
| 3 | g.49122966A>T | CA352694283 | LAMB2 | c.4311T>A (p.Cys1437Ter) n.620T>A | |
| 3 | g.49122967C>A | CA352694291 | LAMB2 | c.4310G>T (p.Cys1437Phe) n.619G>T | |
| 3 | g.49122967C>G | CA352694293 | LAMB2 | c.4310G>C (p.Cys1437Ser) n.619G>C | |
| 3 | g.49122967C>T | CA352694296 | LAMB2 | c.4310G>A (p.Cys1437Tyr) n.619G>A | gnomAD v4 |
| 3 | g.49122968A>C | CA352694300 | LAMB2 | c.4309T>G (p.Cys1437Gly) n.618T>G | |
| 3 | g.49122968A>G | CA352694301 | LAMB2 | c.4309T>C (p.Cys1437Arg) n.618T>C | |
| 3 | g.49122968A>T | CA352694302 | LAMB2 | c.4309T>A (p.Cys1437Ser) n.618T>A | |
| 3 | g.49122969G>A | CA2393812 | LAMB2 | c.4308C>T (p.Arg1436=) n.617C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122969G>C | CA433633920 | LAMB2 | c.4308C>G (p.Arg1436=) n.617C>G | |
| 3 | g.49122969G= | CA1363339779 | LAMB2 | c.4308C= (p.Arg1436=) n.617C= | |
| 3 | g.49122969G>T | CA433633919 | LAMB2 | c.4308C>A (p.Arg1436=) n.617C>A | gnomAD v4 |
| 3 | g.49122970C>A | CA352694309 | LAMB2 | c.4307G>T (p.Arg1436Leu) n.616G>T | |
| 3 | g.49122970C= | CA1363339784 | LAMB2 | c.4307G= (p.Arg1436=) n.616G= | |
| 3 | g.49122970C>G | CA352694310 | LAMB2 | c.4307G>C (p.Arg1436Pro) n.616G>C | |
| 3 | g.49122970C>T | CA2393813 | LAMB2 | c.4307G>A (p.Arg1436His) n.616G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122971G>A | CA2393814 | LAMB2 | c.4306C>T (p.Arg1436Cys) n.615C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122971G>C | CA352694318 | LAMB2 | c.4306C>G (p.Arg1436Gly) n.615C>G | |
| 3 | g.49122971G= | CA1363339787 | LAMB2 | c.4306C= (p.Arg1436=) n.615C= | |
| 3 | g.49122971G>T | CA352694325 | LAMB2 | c.4306C>A (p.Arg1436Ser) n.615C>A | gnomAD v4 |
| 3 | g.49122972C>A | CA433633922 | LAMB2 | c.4305G>T (p.Pro1435=) n.614G>T | gnomAD v4 |
| 3 | g.49122972C= | CA1363339791 | LAMB2 | c.4305G= (p.Pro1435=) n.614G= | |
| 3 | g.49122972C>G | CA433633921 | LAMB2 | c.4305G>C (p.Pro1435=) n.614G>C | dbSNP |
| 3 | g.49122972C>T | CA2393815 | LAMB2 | c.4305G>A (p.Pro1435=) n.614G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122973G>A | CA2393816 | LAMB2 | c.4304C>T (p.Pro1435Leu) n.613C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122973G>C | CA352694330 | LAMB2 | c.4304C>G (p.Pro1435Arg) n.613C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49122973G= | CA1363339794 | LAMB2 | c.4304C= (p.Pro1435=) n.613C= | |
| 3 | g.49122973G>T | CA352694331 | LAMB2 | c.4304C>A (p.Pro1435Gln) n.613C>A | gnomAD v4 |
| 3 | g.49122974G>A | CA352694340 | LAMB2 | c.4303C>T (p.Pro1435Ser) n.612C>T | gnomAD v4 |
| 3 | g.49122974G>C | CA352694356 | LAMB2 | c.4303C>G (p.Pro1435Ala) n.612C>G | |
| 3 | g.49122974G>T | CA352694359 | LAMB2 | c.4303C>A (p.Pro1435Thr) n.612C>A | gnomAD v4 |
| 3 | g.49122975C>A | CA352694361 | LAMB2 | c.4302G>T (p.Gln1434His) n.611G>T | |
| 3 | g.49122975C= | CA1363339797 | LAMB2 | c.4302G= (p.Gln1434=) n.611G= | |
| 3 | g.49122975C>G | CA352694360 | LAMB2 | c.4302G>C (p.Gln1434His) n.611G>C | |
| 3 | g.49122975C>T | CA433633923 | LAMB2 | c.4302G>A (p.Gln1434=) n.611G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122976T>A | CA352694362 | LAMB2 | c.4301A>T (p.Gln1434Leu) n.610A>T | |
| 3 | g.49122976T>C | CA352694365 | LAMB2 | c.4301A>G (p.Gln1434Arg) n.610A>G | gnomAD v4 |
| 3 | g.49122976T>G | CA352694367 | LAMB2 | c.4301A>C (p.Gln1434Pro) n.610A>C | |
| 3 | g.49122977G>A | CA352694370 | LAMB2 | c.4300C>T (p.Gln1434Ter) n.609C>T | |
| 3 | g.49122977G>C | CA352694371 | LAMB2 | c.4300C>G (p.Gln1434Glu) n.609C>G | |
| 3 | g.49122977G>T | CA352694374 | LAMB2 | c.4300C>A (p.Gln1434Lys) n.609C>A | gnomAD v4 |
| 3 | g.49122978C>A | CA433633924 | LAMB2 | c.4299G>T (p.Gly1433=) n.608G>T | |
| 3 | g.49122978C= | CA1363339801 | LAMB2 | c.4299G= (p.Gly1433=) n.608G= | |
| 3 | g.49122978C>G | CA433633925 | LAMB2 | c.4299G>C (p.Gly1433=) n.608G>C | |
| 3 | g.49122978C>T | CA433633926 | LAMB2 | c.4299G>A (p.Gly1433=) n.608G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122979C>A | CA352694393 | LAMB2 | c.4298G>T (p.Gly1433Val) n.607G>T | |
| 3 | g.49122979C>G | CA352694380 | LAMB2 | c.4298G>C (p.Gly1433Ala) n.607G>C | |
| 3 | g.49122979C>T | CA352694389 | LAMB2 | c.4298G>A (p.Gly1433Glu) n.607G>A | |
| 3 | g.49122980C>A | CA352694399 | LAMB2 | c.4297G>T (p.Gly1433Trp) n.606G>T | gnomAD v4 |
| 3 | g.49122980C>G | CA352694403 | LAMB2 | c.4297G>C (p.Gly1433Arg) n.606G>C | |
| 3 | g.49122980C>T | CA352694408 | LAMB2 | c.4297G>A (p.Gly1433Arg) n.606G>A | |
| 3 | g.49122981A= | CA1363339807 | LAMB2 | c.4296T= (p.Asp1432=) n.605T= | |
| 3 | g.49122981A>C | CA352694412 | LAMB2 | c.4296T>G (p.Asp1432Glu) n.605T>G | dbSNP |
| 3 | g.49122981A>G | CA433633927 | LAMB2 | c.4296T>C (p.Asp1432=) n.605T>C | ClinVar |
| 3 | g.49122981A>T | CA352694434 | LAMB2 | c.4296T>A (p.Asp1432Glu) n.605T>A | |
| 3 | g.49122981_49122984delinsATCC | CA1363339808 | LAMB2 | c.4293_4296delinsGGAT (p.Glu1431=) n.602_605delinsGGAT | |
| 3 | g.49122982T>A | CA352694437 | LAMB2 | c.4295A>T (p.Asp1432Val) n.604A>T | |
| 3 | g.49122982T>C | CA352694442 | LAMB2 | c.4295A>G (p.Asp1432Gly) n.604A>G | |
| 3 | g.49122982T>G | CA352694439 | LAMB2 | c.4295A>C (p.Asp1432Ala) n.604A>C | |
| 3 | g.49122984_49122986del | CA543048569 | LAMB2 | c.4293_4295del (p.Glu1431del) n.602_604del | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122983C>A | CA352694443 | LAMB2 | c.4294G>T (p.Asp1432Tyr) n.603G>T | |
| 3 | g.49122983C>G | CA352694444 | LAMB2 | c.4294G>C (p.Asp1432His) n.603G>C | |
| 3 | g.49122983C>T | CA352694445 | LAMB2 | c.4294G>A (p.Asp1432Asn) n.603G>A | |
| 3 | g.49122984C>A | CA352694449 | LAMB2 | c.4293G>T (p.Glu1431Asp) n.602G>T | |
| 3 | g.49122984C>G | CA352694450 | LAMB2 | c.4293G>C (p.Glu1431Asp) n.602G>C | |
| 3 | g.49122984C>T | CA433633928 | LAMB2 | c.4293G>A (p.Glu1431=) n.602G>A | gnomAD v4 |
| 3 | g.49122985T>A | CA352694451 | LAMB2 | c.4292A>T (p.Glu1431Val) n.601A>T | |
| 3 | g.49122985T>C | CA352694457 | LAMB2 | c.4292A>G (p.Glu1431Gly) n.601A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122985T>G | CA352694460 | LAMB2 | c.4292A>C (p.Glu1431Ala) n.601A>C | |
| 3 | g.49122985T= | CA1363339813 | LAMB2 | c.4292A= (p.Glu1431=) n.601A= | |
| 3 | g.49122986C>A | CA352694465 | LAMB2 | c.4291G>T (p.Glu1431Ter) n.600G>T | |
| 3 | g.49122986C>G | CA352694479 | LAMB2 | c.4291G>C (p.Glu1431Gln) n.600G>C | |
| 3 | g.49122986C>T | CA352694482 | LAMB2 | c.4291G>A (p.Glu1431Lys) n.600G>A | |
| 3 | g.49122987A= | CA1363339818 | LAMB2 | c.4290T= (p.Asp1430=) n.599T= | |
| 3 | g.49122987A>C | CA352694483 | LAMB2 | c.4290T>G (p.Asp1430Glu) n.599T>G | |
| 3 | g.49122987A>G | CA433633929 | LAMB2 | c.4290T>C (p.Asp1430=) n.599T>C | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49122987A>T | CA352694484 | LAMB2 | c.4290T>A (p.Asp1430Glu) n.599T>A | |
| 3 | g.49122988T>A | CA352694485 | LAMB2 | c.4289A>T (p.Asp1430Val) n.598A>T | |
| 3 | g.49122988T>C | CA352694490 | LAMB2 | c.4289A>G (p.Asp1430Gly) n.598A>G | |
| 3 | g.49122988T>G | CA352694488 | LAMB2 | c.4289A>C (p.Asp1430Ala) n.598A>C | gnomAD v4 |
| 3 | g.49122989C>A | CA352694495 | LAMB2 | c.4288G>T (p.Asp1430Tyr) n.597G>T | gnomAD v4 |
| 3 | g.49122989C>G | CA352694497 | LAMB2 | c.4288G>C (p.Asp1430His) n.597G>C | |
| 3 | g.49122989C>T | CA352694502 | LAMB2 | c.4288G>A (p.Asp1430Asn) n.597G>A | |
| 3 | g.49122990T>A | CA433633930 | LAMB2 | c.4287A>T (p.Arg1429=) n.596A>T | |
| 3 | g.49122990T>C | CA433633932 | LAMB2 | c.4287A>G (p.Arg1429=) n.596A>G | gnomAD v4 |
| 3 | g.49122990T>G | CA433633931 | LAMB2 | c.4287A>C (p.Arg1429=) n.596A>C | |
| 3 | g.49122991C>A | CA352694507 | LAMB2 | c.4286G>T (p.Arg1429Leu) n.595G>T | |
| 3 | g.49122991C= | CA1363339822 | LAMB2 | c.4286G= (p.Arg1429=) n.595G= | |
| 3 | g.49122991C>G | CA352694508 | LAMB2 | c.4286G>C (p.Arg1429Pro) n.595G>C | gnomAD v4 |
| 3 | g.49122991C>T | CA2393817 | LAMB2 | c.4286G>A (p.Arg1429Gln) n.595G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122992G>A | CA352694514 | LAMB2 | c.4285C>T (p.Arg1429Ter) n.594C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122992G>C | CA352694520 | LAMB2 | c.4285C>G (p.Arg1429Gly) n.594C>G | |
| 3 | g.49122992G= | CA1363339827 | LAMB2 | c.4285C= (p.Arg1429=) n.594C= | |
| 3 | g.49122992G>T | CA433633933 | LAMB2 | c.4285C>A (p.Arg1429=) n.594C>A | dbSNP gnomAD v4 |
| 3 | g.49122993A>C | CA352694534 | LAMB2 | c.4284T>G (p.Cys1428Trp) n.593T>G | |
| 3 | g.49122993A>G | CA433633934 | LAMB2 | c.4284T>C (p.Cys1428=) n.593T>C | gnomAD v4 |
| 3 | g.49122993A>T | CA352694538 | LAMB2 | c.4284T>A (p.Cys1428Ter) n.593T>A | |
| 3 | g.49122994C>A | CA352694543 | LAMB2 | c.4283G>T (p.Cys1428Phe) n.592G>T | |
| 3 | g.49122994C>G | CA352694545 | LAMB2 | c.4283G>C (p.Cys1428Ser) n.592G>C | |
| 3 | g.49122994C>T | CA352694548 | LAMB2 | c.4283G>A (p.Cys1428Tyr) n.592G>A | |
| 3 | g.49122995A>C | CA352694564 | LAMB2 | c.4282T>G (p.Cys1428Gly) n.591T>G | |
| 3 | g.49122995A>G | CA352694577 | LAMB2 | c.4282T>C (p.Cys1428Arg) n.591T>C | |
| 3 | g.49122995A>T | CA352694571 | LAMB2 | c.4282T>A (p.Cys1428Ser) n.591T>A | |
| 3 | g.49122996G>A | CA433633935 | LAMB2 | c.4281C>T (p.Gly1427=) n.590C>T | gnomAD v4 |
| 3 | g.49122996G>C | CA433633937 | LAMB2 | c.4281C>G (p.Gly1427=) n.590C>G | |
| 3 | g.49122996G>T | CA433633936 | LAMB2 | c.4281C>A (p.Gly1427=) n.590C>A | gnomAD v4 |
| 3 | g.49122997C>A | CA352694586 | LAMB2 | c.4280G>T (p.Gly1427Val) n.589G>T | |
| 3 | g.49122997C>G | CA352694589 | LAMB2 | c.4280G>C (p.Gly1427Ala) n.589G>C | |
| 3 | g.49122997C>T | CA352694591 | LAMB2 | c.4280G>A (p.Gly1427Asp) n.589G>A | gnomAD v4 |
| 3 | g.49122998C>A | CA352694599 | LAMB2 | c.4279G>T (p.Gly1427Cys) n.588G>T | gnomAD v4 |
| 3 | g.49122998C= | CA1363339830 | LAMB2 | c.4279G= (p.Gly1427=) n.588G= | |
| 3 | g.49122998C>G | CA352694605 | LAMB2 | c.4279G>C (p.Gly1427Arg) n.588G>C | |
| 3 | g.49122998C>T | CA2393818 | LAMB2 | c.4279G>A (p.Gly1427Ser) n.588G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.49122999G>A | CA2393819 | LAMB2 | c.4278C>T (p.Ala1426=) n.587C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49122999G>C | CA433633939 | LAMB2 | c.4278C>G (p.Ala1426=) n.587C>G | |
| 3 | g.49122999G= | CA1363339834 | LAMB2 | c.4278C= (p.Ala1426=) n.587C= | |
| 3 | g.49122999G>T | CA433633940 | LAMB2 | c.4278C>A (p.Ala1426=) n.587C>A | gnomAD v4 |
| 3 | g.49123000G>A | CA352694626 | LAMB2 | c.4277C>T (p.Ala1426Val) n.586C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123000G>C | CA352694629 | LAMB2 | c.4277C>G (p.Ala1426Gly) n.586C>G | |
| 3 | g.49123000G= | CA1363339837 | LAMB2 | c.4277C= (p.Ala1426=) n.586C= | |
| 3 | g.49123000G>T | CA352694636 | LAMB2 | c.4277C>A (p.Ala1426Asp) n.586C>A | gnomAD v4 |
| 3 | g.49123001C>A | CA352694653 | LAMB2 | c.4276G>T (p.Ala1426Ser) n.585G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123001C= | CA1363339847 | LAMB2 | c.4276G= (p.Ala1426=) n.585G= | |
| 3 | g.49123001C>G | CA352694648 | LAMB2 | c.4276G>C (p.Ala1426Pro) n.585G>C | |
| 3 | g.49123001C>T | CA2393820 | LAMB2 | c.4276G>A (p.Ala1426Thr) n.585G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49123001dup | CA658820885 | LAMB2 | c.4276dup (p.Ala1426GlyfsTer6) n.585dup | ClinVar dbSNP |
| 3 | g.49123002A>C | CA433633944 | LAMB2 | c.4275T>G (p.Gly1425=) n.584T>G | |
| 3 | g.49123002A>G | CA433633945 | LAMB2 | c.4275T>C (p.Gly1425=) n.584T>C | |
| 3 | g.49123002A>T | CA433633946 | LAMB2 | c.4275T>A (p.Gly1425=) n.584T>A | |
| 3 | g.49123003C>A | CA352694658 | LAMB2 | c.4274G>T (p.Gly1425Val) n.583G>T | COSMIC |
| 3 | g.49123003C= | CA1363339853 | LAMB2 | c.4274G= (p.Gly1425=) n.583G= | |
| 3 | g.49123003C>G | CA2393821 | LAMB2 | c.4274G>C (p.Gly1425Ala) n.583G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49123003C>T | CA352694681 | LAMB2 | c.4274G>A (p.Gly1425Asp) n.583G>A | gnomAD v4 |