UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.49132060G>A | CA2665699798 | LAMB2 | c.459+56C>T (n.459+56C>T) c.12+56C>T (n.12+56C>T) | gnomAD v4 |
| 3 | g.49132060G>T | CA2577594552 | LAMB2 | c.459+56C>A (n.459+56C>A) c.12+56C>A (n.12+56C>A) | gnomAD v4 |
| 3 | g.49132063del | CA2665699799 | LAMB2 | c.459+56del (n.459+56del) c.12+56del (n.12+56del) | gnomAD v4 |
| 3 | g.49132061G>A | CA1363343276 | LAMB2 | c.459+55C>T (n.459+55C>T) c.12+55C>T (n.12+55C>T) | dbSNP |
| 3 | g.49132061G= | CA1363343275 | LAMB2 | c.459+55C= (n.459+55C=) c.12+55C= (n.12+55C=) | |
| 3 | g.49132062G>A | CA1363343278 | LAMB2 | c.459+54C>T (n.459+54C>T) c.12+54C>T (n.12+54C>T) | dbSNP |
| 3 | g.49132062G= | CA1363343277 | LAMB2 | c.459+54C= (n.459+54C=) c.12+54C= (n.12+54C=) | |
| 3 | g.49132063G>A | CA1363343280 | LAMB2 | c.459+53C>T (n.459+53C>T) c.12+53C>T (n.12+53C>T) | dbSNP |
| 3 | g.49132063G= | CA1363343279 | LAMB2 | c.459+53C= (n.459+53C=) c.12+53C= (n.12+53C=) | |
| 3 | g.49132063G>T | CA2665699802 | LAMB2 | c.459+53C>A (n.459+53C>A) c.12+53C>A (n.12+53C>A) | gnomAD v4 |
| 3 | g.49132064C= | CA1363343281 | LAMB2 | c.459+52G= (n.459+52G=) c.12+52G= (n.12+52G=) | |
| 3 | g.49132064C>T | CA1363343282 | LAMB2 | c.459+52G>A (n.459+52G>A) c.12+52G>A (n.12+52G>A) | dbSNP |
| 3 | g.49132065A>G | CA2665699803 | LAMB2 | c.459+51T>C (n.459+51T>C) c.12+51T>C (n.12+51T>C) | gnomAD v4 |
| 3 | g.49132067T>A | CA647881882 | LAMB2 | c.459+49A>T (n.459+49A>T) c.12+49A>T (n.12+49A>T) | COSMIC |
| 3 | g.49132067T>C | CA1363343284 | LAMB2 | c.459+49A>G (n.459+49A>G) c.12+49A>G (n.12+49A>G) | dbSNP gnomAD v4 |
| 3 | g.49132067T= | CA1363343283 | LAMB2 | c.459+49A= (n.459+49A=) c.12+49A= (n.12+49A=) | |
| 3 | g.49132068G>A | CA543048922 | LAMB2 | c.459+48C>T (n.459+48C>T) c.12+48C>T (n.12+48C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132068G= | CA1363343285 | LAMB2 | c.459+48C= (n.459+48C=) c.12+48C= (n.12+48C=) | |
| 3 | g.49132069G= | CA1363343286 | LAMB2 | c.459+47C= (n.459+47C=) c.12+47C= (n.12+47C=) | |
| 3 | g.49132070A= | CA1363343287 | LAMB2 | c.459+46T= (n.459+46T=) c.12+46T= (n.12+46T=) | |
| 3 | g.49132070A>C | CA907795098 | LAMB2 | c.459+46T>G (n.459+46T>G) c.12+46T>G (n.12+46T>G) | dbSNP |
| 3 | g.49132070A>G | CA543048923 | LAMB2 | c.459+46T>C (n.459+46T>C) c.12+46T>C (n.12+46T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49132072_49132078dup | CA2394916 | LAMB2 | c.459+40_459+46dup (n.459+40_459+46dup) c.12+40_12+46dup (n.12+40_12+46dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132071G>A | CA2394917 | LAMB2 | c.459+45C>T (n.459+45C>T) c.12+45C>T (n.12+45C>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.49132071G= | CA1363343288 | LAMB2 | c.459+45C= (n.459+45C=) c.12+45C= (n.12+45C=) | |
| 3 | g.49132071G>T | CA2665699809 | LAMB2 | c.459+45C>A (n.459+45C>A) c.12+45C>A (n.12+45C>A) | gnomAD v4 |
| 3 | g.49132073G>A | CA2665699811 | LAMB2 | c.459+43C>T (n.459+43C>T) c.12+43C>T (n.12+43C>T) | gnomAD v4 |
| 3 | g.49132073G>C | CA2665699813 | LAMB2 | c.459+43C>G (n.459+43C>G) c.12+43C>G (n.12+43C>G) | gnomAD v4 |
| 3 | g.49132073G>T | CA647881884 | LAMB2 | c.459+43C>A (n.459+43C>A) c.12+43C>A (n.12+43C>A) | COSMIC |
| 3 | g.49132078G>A | CA2665699814 | LAMB2 | c.459+38C>T (n.459+38C>T) c.12+38C>T (n.12+38C>T) | gnomAD v4 |
| 3 | g.49132078G>T | CA2665699815 | LAMB2 | c.459+38C>A (n.459+38C>A) c.12+38C>A (n.12+38C>A) | gnomAD v4 |
| 3 | g.49132081G>A | CA2577594553 | LAMB2 | c.459+35C>T (n.459+35C>T) c.12+35C>T (n.12+35C>T) | |
| 3 | g.49132081G>C | CA2394918 | LAMB2 | c.459+35C>G (n.459+35C>G) c.12+35C>G (n.12+35C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132081G= | CA1363343289 | LAMB2 | c.459+35C= (n.459+35C=) c.12+35C= (n.12+35C=) | |
| 3 | g.49132081G>T | CA2530238372 | LAMB2 | c.459+35C>A (n.459+35C>A) c.12+35C>A (n.12+35C>A) | gnomAD v4 |
| 3 | g.49132082G>C | CA2665699816 | LAMB2 | c.459+34C>G (n.459+34C>G) c.12+34C>G (n.12+34C>G) | gnomAD v4 |
| 3 | g.49132083G>A | CA2665699817 | LAMB2 | c.459+33C>T (n.459+33C>T) c.12+33C>T (n.12+33C>T) | gnomAD v4 |
| 3 | g.49132083G>T | CA2577594554 | LAMB2 | c.459+33C>A (n.459+33C>A) c.12+33C>A (n.12+33C>A) | |
| 3 | g.49132084T>C | CA543048924 | LAMB2 | c.459+32A>G (n.459+32A>G) c.12+32A>G (n.12+32A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49132084T= | CA1363343290 | LAMB2 | c.459+32A= (n.459+32A=) c.12+32A= (n.12+32A=) | |
| 3 | g.49132085G>T | CA2577594555 | LAMB2 | c.459+31C>A (n.459+31C>A) c.12+31C>A (n.12+31C>A) | gnomAD v4 |
| 3 | g.49132088dup | CA2665699818 | LAMB2 | c.459+29dup (n.459+29dup) c.12+29dup (n.12+29dup) | gnomAD v4 |
| 3 | g.49132088T>A | CA2577594556 | LAMB2 | c.459+28A>T (n.459+28A>T) c.12+28A>T (n.12+28A>T) | |
| 3 | g.49132088T>C | CA2394919 | LAMB2 | c.459+28A>G (n.459+28A>G) c.12+28A>G (n.12+28A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132088T= | CA1363343291 | LAMB2 | c.459+28A= (n.459+28A=) c.12+28A= (n.12+28A=) | |
| 3 | g.49132089C>A | CA2577594557 | LAMB2 | c.459+27G>T (n.459+27G>T) c.12+27G>T (n.12+27G>T) | gnomAD v4 |
| 3 | g.49132089C= | CA1363343292 | LAMB2 | c.459+27G= (n.459+27G=) c.12+27G= (n.12+27G=) | |
| 3 | g.49132089C>G | CA2577594558 | LAMB2 | c.459+27G>C (n.459+27G>C) c.12+27G>C (n.12+27G>C) | gnomAD v4 |
| 3 | g.49132089C>T | CA2394920 | LAMB2 | c.459+27G>A (n.459+27G>A) c.12+27G>A (n.12+27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132090G>A | CA2394921 | LAMB2 | c.459+26C>T (n.459+26C>T) c.12+26C>T (n.12+26C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132090G>C | CA2394922 | LAMB2 | c.459+26C>G (n.459+26C>G) c.12+26C>G (n.12+26C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132090G= | CA1363343293 | LAMB2 | c.459+26C= (n.459+26C=) c.12+26C= (n.12+26C=) | |
| 3 | g.49132090G>T | CA2665699820 | LAMB2 | c.459+26C>A (n.459+26C>A) c.12+26C>A (n.12+26C>A) | gnomAD v4 |
| 3 | g.49132091G>A | CA74489626 | LAMB2 | c.459+25C>T (n.459+25C>T) c.12+25C>T (n.12+25C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132091G= | CA1363343294 | LAMB2 | c.459+25C= (n.459+25C=) c.12+25C= (n.12+25C=) | |
| 3 | g.49132091G>T | CA2665699821 | LAMB2 | c.459+25C>A (n.459+25C>A) c.12+25C>A (n.12+25C>A) | gnomAD v4 |
| 3 | g.49132092G>A | CA2577594559 | LAMB2 | c.459+24C>T (n.459+24C>T) c.12+24C>T (n.12+24C>T) | gnomAD v4 |
| 3 | g.49132092G>T | CA2577594560 | LAMB2 | c.459+24C>A (n.459+24C>A) c.12+24C>A (n.12+24C>A) | |
| 3 | g.49132093C>A | CA2394923 | LAMB2 | c.459+23G>T (n.459+23G>T) c.12+23G>T (n.12+23G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132093C= | CA1363343295 | LAMB2 | c.459+23G= (n.459+23G=) c.12+23G= (n.12+23G=) | |
| 3 | g.49132093C>T | CA2577594561 | LAMB2 | c.459+23G>A (n.459+23G>A) c.12+23G>A (n.12+23G>A) | gnomAD v4 |
| 3 | g.49132094A>G | CA2665699822 | LAMB2 | c.459+22T>C (n.459+22T>C) c.12+22T>C (n.12+22T>C) | gnomAD v4 |
| 3 | g.49132096G>T | CA2665699823 | LAMB2 | c.459+20C>A (n.459+20C>A) c.12+20C>A (n.12+20C>A) | gnomAD v4 |
| 3 | g.49132097C= | CA1363343296 | LAMB2 | c.459+19G= (n.459+19G=) c.12+19G= (n.12+19G=) | |
| 3 | g.49132097C>T | CA2394924 | LAMB2 | c.459+19G>A (n.459+19G>A) c.12+19G>A (n.12+19G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132098T= | CA1363343297 | LAMB2 | c.459+18A= (n.459+18A=) c.12+18A= (n.12+18A=) | |
| 3 | g.49132101del | CA2665699824 | LAMB2 | c.459+17del (n.459+17del) c.12+17del (n.12+17del) | gnomAD v4 |
| 3 | g.49132101_49132116dup | CA543048925 | LAMB2 | c.459+2_459+17dup c.12+2_12+17dup | dbSNP gnomAD v2 |
| 3 | g.49132100C= | CA1363343298 | LAMB2 | c.459+16G= (n.459+16G=) c.12+16G= (n.12+16G=) | |
| 3 | g.49132100C>G | CA2665699825 | LAMB2 | c.459+16G>C (n.459+16G>C) c.12+16G>C (n.12+16G>C) | gnomAD v4 |
| 3 | g.49132100C>T | CA1363343299 | LAMB2 | c.459+16G>A (n.459+16G>A) c.12+16G>A (n.12+16G>A) | dbSNP |
| 3 | g.49132101C>T | CA2665699826 | LAMB2 | c.459+15G>A (n.459+15G>A) c.12+15G>A (n.12+15G>A) | gnomAD v4 |
| 3 | g.49132102A= | CA1363343300 | LAMB2 | c.459+14T= (n.459+14T=) c.12+14T= (n.12+14T=) | |
| 3 | g.49132102A>G | CA2394925 | LAMB2 | c.459+14T>C (n.459+14T>C) c.12+14T>C (n.12+14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132103G>C | CA2597110837 | LAMB2 | c.459+13C>G (n.459+13C>G) c.12+13C>G (n.12+13C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49132104A= | CA1363343301 | LAMB2 | c.459+12T= (n.459+12T=) c.12+12T= (n.12+12T=) | |
| 3 | g.49132104A>G | CA1363343302 | LAMB2 | c.459+12T>C (n.459+12T>C) c.12+12T>C (n.12+12T>C) | dbSNP |
| 3 | g.49132104A>T | CA2577594562 | LAMB2 | c.459+12T>A (n.459+12T>A) c.12+12T>A (n.12+12T>A) | |
| 3 | g.49132107T>C | CA2394926 | LAMB2 | c.459+9A>G (n.459+9A>G) c.12+9A>G (n.12+9A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132107T>G | CA1363343304 | LAMB2 | c.459+9A>C (n.459+9A>C) c.12+9A>C (n.12+9A>C) | dbSNP |
| 3 | g.49132107T= | CA1363343303 | LAMB2 | c.459+9A= (n.459+9A=) c.12+9A= (n.12+9A=) | |
| 3 | g.49132109C= | CA1363343305 | LAMB2 | c.459+7G= (n.459+7G=) c.12+7G= (n.12+7G=) | |
| 3 | g.49132109C>G | CA2394927 | LAMB2 | c.459+7G>C (n.459+7G>C) c.12+7G>C (n.12+7G>C) | dbSNP ExAC gnomAD v2 |
| 3 | g.49132111G>A | CA1363343306 | LAMB2 | c.459+5C>T (n.459+5C>T) c.12+5C>T (n.12+5C>T) | dbSNP gnomAD v4 |
| 3 | g.49132111G>C | CA1047738975 | LAMB2 | c.459+5C>G (n.459+5C>G) c.12+5C>G (n.12+5C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49132111G= | CA1363343307 | LAMB2 | c.459+5C= (n.459+5C=) c.12+5C= (n.12+5C=) | |
| 3 | g.49132112G= | CA1363343308 | LAMB2 | c.459+4C= (n.459+4C=) c.12+4C= (n.12+4C=) | |
| 3 | g.49132112G>T | CA2394928 | LAMB2 | c.459+4C>A (n.459+4C>A) c.12+4C>A (n.12+4C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.49132113C>T | CA2665699827 | LAMB2 | c.459+3G>A (n.459+3G>A) c.12+3G>A (n.12+3G>A) | gnomAD v4 |
| 3 | g.49132114A>C | CA352753615 | LAMB2 | c.459+2T>G (n.459+2T>G) c.12+2T>G (n.12+2T>G) | |
| 3 | g.49132114A>G | CA352753619 | LAMB2 | c.459+2T>C (n.459+2T>C) c.12+2T>C (n.12+2T>C) | |
| 3 | g.49132114A>T | CA352753622 | LAMB2 | c.459+2T>A (n.459+2T>A) c.12+2T>A (n.12+2T>A) | |
| 3 | g.49132115C>A | CA352753624 | LAMB2 | c.459+1G>T (n.459+1G>T) c.12+1G>T (n.12+1G>T) | |
| 3 | g.49132115C>G | CA352753629 | LAMB2 | c.459+1G>C (n.459+1G>C) c.12+1G>C (n.12+1G>C) | |
| 3 | g.49132115C>T | CA352753627 | LAMB2 | c.459+1G>A (n.459+1G>A) c.12+1G>A (n.12+1G>A) | gnomAD v4 |
| 3 | g.49132116C>A | CA352753632 | LAMB2 | c.459G>T (p.Lys153Asn) c.12G>T (p.Lys4Asn) | |
| 3 | g.49132116C>G | CA352753647 | LAMB2 | c.459G>C (p.Lys153Asn) c.12G>C (p.Lys4Asn) | |
| 3 | g.49132116C>T | CA433636270 | LAMB2 | c.459G>A (p.Lys153=) c.12G>A (p.Lys4=) | |
| 3 | g.49132117T>A | CA352753652 | LAMB2 | c.458A>T (p.Lys153Met) c.11A>T (p.Lys4Met) | |
| 3 | g.49132117T>C | CA352753653 | LAMB2 | c.458A>G (p.Lys153Arg) c.11A>G (p.Lys4Arg) | dbSNP gnomAD v2 |
| 3 | g.49132117T>G | CA352753654 | LAMB2 | c.458A>C (p.Lys153Thr) c.11A>C (p.Lys4Thr) | gnomAD v4 |
| 3 | g.49132117T= | CA1363343309 | LAMB2 | c.458A= (p.Lys153=) c.11A= (p.Lys4=) | |
| 3 | g.49132118T>A | CA352753657 | LAMB2 | c.457A>T (p.Lys153Ter) c.10A>T (p.Lys4Ter) | |
| 3 | g.49132118T>C | CA352753659 | LAMB2 | c.457A>G (p.Lys153Glu) c.10A>G (p.Lys4Glu) | |
| 3 | g.49132118T>G | CA352753663 | LAMB2 | c.457A>C (p.Lys153Gln) c.10A>C (p.Lys4Gln) | |
| 3 | g.49132119del | CA2577594563 | LAMB2 | c.456del (p.Phe152LeufsTer?) c.9del (p.Phe3LeufsTer?) | |
| 3 | g.49132119G>A | CA433636271 | LAMB2 | c.456C>T (p.Phe152=) c.9C>T (p.Phe3=) | |
| 3 | g.49132119G>C | CA352753673 | LAMB2 | c.456C>G (p.Phe152Leu) c.9C>G (p.Phe3Leu) | |
| 3 | g.49132119G= | CA1363343310 | LAMB2 | c.456C= (p.Phe152=) c.9C= (p.Phe3=) | |
| 3 | g.49132119G>T | CA352753676 | LAMB2 | c.456C>A (p.Phe152Leu) c.9C>A (p.Phe3Leu) | dbSNP gnomAD v4 |
| 3 | g.49132120A>C | CA352753677 | LAMB2 | c.455T>G (p.Phe152Cys) c.8T>G (p.Phe3Cys) | COSMIC |
| 3 | g.49132120A>G | CA352753678 | LAMB2 | c.455T>C (p.Phe152Ser) c.8T>C (p.Phe3Ser) | |
| 3 | g.49132120A>T | CA352753679 | LAMB2 | c.455T>A (p.Phe152Tyr) c.8T>A (p.Phe3Tyr) | |
| 3 | g.49132121A>C | CA352753690 | LAMB2 | c.454T>G (p.Phe152Val) c.7T>G (p.Phe3Val) | |
| 3 | g.49132121A>G | CA352753684 | LAMB2 | c.454T>C (p.Phe152Leu) c.7T>C (p.Phe3Leu) | |
| 3 | g.49132121A>T | CA352753687 | LAMB2 | c.454T>A (p.Phe152Ile) c.7T>A (p.Phe3Ile) | |
| 3 | g.49132122G>A | CA433636272 | LAMB2 | c.453C>T (p.Thr151=) c.6C>T (p.Thr2=) | gnomAD v4 |
| 3 | g.49132122G>C | CA433636273 | LAMB2 | c.453C>G (p.Thr151=) c.6C>G (p.Thr2=) | |
| 3 | g.49132122G= | CA1363343311 | LAMB2 | c.453C= (p.Thr151=) c.6C= (p.Thr2=) | |
| 3 | g.49132122G>T | CA433636274 | LAMB2 | c.453C>A (p.Thr151=) c.6C>A (p.Thr2=) | dbSNP |
| 3 | g.49132122_49132123del | CA2499216901 | LAMB2 | c.452_453del (p.Thr151IlefsTer30) c.5_6del (p.Thr2IlefsTer30) | dbSNP |
| 3 | g.49132123G>A | CA352753693 | LAMB2 | c.452C>T (p.Thr151Ile) c.5C>T (p.Thr2Ile) | dbSNP gnomAD v4 |
| 3 | g.49132123G>C | CA352753696 | LAMB2 | c.452C>G (p.Thr151Ser) c.5C>G (p.Thr2Ser) | gnomAD v4 |
| 3 | g.49132123G= | CA1363343312 | LAMB2 | c.452C= (p.Thr151=) c.5C= (p.Thr2=) | |
| 3 | g.49132123G>T | CA352753699 | LAMB2 | c.452C>A (p.Thr151Asn) c.5C>A (p.Thr2Asn) | |
| 3 | g.49132124T>A | CA352753707 | LAMB2 | c.451A>T (p.Thr151Ser) c.4A>T (p.Thr2Ser) | |
| 3 | g.49132124T>C | CA352753710 | LAMB2 | c.451A>G (p.Thr151Ala) c.4A>G (p.Thr2Ala) | |
| 3 | g.49132124T>G | CA352753715 | LAMB2 | c.451A>C (p.Thr151Pro) c.4A>C (p.Thr2Pro) | |
| 3 | g.49132125C>A | CA352753717 | LAMB2 | c.450G>T (p.Met150Ile) c.3G>T (p.Met1Ile) | |
| 3 | g.49132125C>G | CA352753720 | LAMB2 | c.450G>C (p.Met150Ile) c.3G>C (p.Met1Ile) | |
| 3 | g.49132125C>T | CA352753723 | LAMB2 | c.450G>A (p.Met150Ile) c.3G>A (p.Met1Ile) | |
| 3 | g.49132126A>C | CA352753729 | LAMB2 | c.449T>G (p.Met150Arg) c.2T>G (p.Met1Arg) | |
| 3 | g.49132126A>G | CA352753731 | LAMB2 | c.449T>C (p.Met150Thr) c.2T>C (p.Met1Thr) | |
| 3 | g.49132126A>T | CA352753737 | LAMB2 | c.449T>A (p.Met150Lys) c.2T>A (p.Met1Lys) | |
| 3 | g.49132128_49132130del | CA2586972429 | LAMB2 | c.447_449del (p.Ile149del) c.-1_2del (n.-1_2del) | |
| 3 | g.49132127T>A | CA352753747 | LAMB2 | c.448A>T (p.Met150Leu) c.1A>T (p.Met1Leu) | |
| 3 | g.49132127T>C | CA352753742 | LAMB2 | c.448A>G (p.Met150Val) c.1A>G (p.Met1Val) | gnomAD v4 |
| 3 | g.49132127T>G | CA352753746 | LAMB2 | c.448A>C (p.Met150Leu) c.1A>C (p.Met1Leu) | |
| 3 | g.49132128A>C | CA352753748 | LAMB2 | c.447T>G (p.Ile149Met) c.-1T>G (n.-1T>G) | |
| 3 | g.49132128A>G | CA433636275 | LAMB2 | c.447T>C (p.Ile149=) c.-1T>C (n.-1T>C) | |
| 3 | g.49132128A>T | CA433636276 | LAMB2 | c.447T>A (p.Ile149=) c.-1T>A (n.-1T>A) | |
| 3 | g.49132129A>C | CA352753749 | LAMB2 | c.446T>G (p.Ile149Ser) c.-2T>G (n.-2T>G) | |
| 3 | g.49132129A>G | CA352753751 | LAMB2 | c.446T>C (p.Ile149Thr) c.-2T>C (n.-2T>C) | |
| 3 | g.49132129A>T | CA352753754 | LAMB2 | c.446T>A (p.Ile149Asn) c.-2T>A (n.-2T>A) | |
| 3 | g.49132130T>A | CA352753755 | LAMB2 | c.445A>T (p.Ile149Phe) c.-3A>T (n.-3A>T) | |
| 3 | g.49132130T>C | CA352753756 | LAMB2 | c.445A>G (p.Ile149Val) c.-3A>G (n.-3A>G) | gnomAD v4 |
| 3 | g.49132130T>G | CA352753759 | LAMB2 | c.445A>C (p.Ile149Leu) c.-3A>C (n.-3A>C) | gnomAD v4 |
| 3 | g.49132131G>A | CA433636277 | LAMB2 | c.444C>T (p.Leu148=) c.-4C>T (n.-4C>T) | COSMIC |
| 3 | g.49132131G>C | CA433636278 | LAMB2 | c.444C>G (p.Leu148=) c.-4C>G (n.-4C>G) | |
| 3 | g.49132131G>T | CA433636279 | LAMB2 | c.444C>A (p.Leu148=) c.-4C>A (n.-4C>A) | |
| 3 | g.49132132A>C | CA352753777 | LAMB2 | c.443T>G (p.Leu148Arg) c.-5T>G (n.-5T>G) | |
| 3 | g.49132132A>G | CA352753764 | LAMB2 | c.443T>C (p.Leu148Pro) c.-5T>C (n.-5T>C) | |
| 3 | g.49132132A>T | CA352753772 | LAMB2 | c.443T>A (p.Leu148His) c.-5T>A (n.-5T>A) | |
| 3 | g.49132133G>A | CA352753782 | LAMB2 | c.442C>T (p.Leu148Phe) c.-6C>T (n.-6C>T) | |
| 3 | g.49132133G>C | CA352753784 | LAMB2 | c.442C>G (p.Leu148Val) c.-6C>G (n.-6C>G) | |
| 3 | g.49132133G>T | CA352753790 | LAMB2 | c.442C>A (p.Leu148Ile) c.-6C>A (n.-6C>A) | |
| 3 | g.49132134G>A | CA433636280 | LAMB2 | c.441C>T (p.His147=) c.-7C>T (n.-7C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.49132134G>C | CA352753794 | LAMB2 | c.441C>G (p.His147Gln) c.-7C>G (n.-7C>G) | |
| 3 | g.49132134G= | CA1363343313 | LAMB2 | c.441C= (p.His147=) c.-7C= (n.-7C=) | |
| 3 | g.49132134G>T | CA352753797 | LAMB2 | c.441C>A (p.His147Gln) c.-7C>A (n.-7C>A) | |
| 3 | g.49132135T>A | CA352753803 | LAMB2 | c.440A>T (p.His147Leu) c.-8A>T (n.-8A>T) | |
| 3 | g.49132135T>C | CA128633 | LAMB2 | c.440A>G (p.His147Arg) c.-8A>G (n.-8A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132135T>G | CA352753809 | LAMB2 | c.440A>C (p.His147Pro) c.-8A>C (n.-8A>C) | |
| 3 | g.49132135T= | CA1363343314 | LAMB2 | c.440A= (p.His147=) c.-8A= (n.-8A=) | |
| 3 | g.49132136G>A | CA352753818 | LAMB2 | c.439C>T (p.His147Tyr) c.-9C>T (n.-9C>T) | dbSNP |
| 3 | g.49132136G>C | CA352753822 | LAMB2 | c.439C>G (p.His147Asp) c.-9C>G (n.-9C>G) | |
| 3 | g.49132136G= | CA1363343315 | LAMB2 | c.439C= (p.His147=) c.-9C= (n.-9C=) | |
| 3 | g.49132136G>T | CA352753826 | LAMB2 | c.439C>A (p.His147Asn) c.-9C>A (n.-9C>A) | |
| 3 | g.49132137T>A | CA433636281 | LAMB2 | c.438A>T (p.Thr146=) c.-10A>T (n.-10A>T) | |
| 3 | g.49132137T>C | CA433636282 | LAMB2 | c.438A>G (p.Thr146=) c.-10A>G (n.-10A>G) | |
| 3 | g.49132137T>G | CA433636283 | LAMB2 | c.438A>C (p.Thr146=) c.-10A>C (n.-10A>C) | |
| 3 | g.49132138G>A | CA352753832 | LAMB2 | c.437C>T (p.Thr146Ile) c.-11C>T (n.-11C>T) | |
| 3 | g.49132138G>C | CA352753835 | LAMB2 | c.437C>G (p.Thr146Arg) c.-11C>G (n.-11C>G) | gnomAD v4 |
| 3 | g.49132138G>T | CA352753839 | LAMB2 | c.437C>A (p.Thr146Lys) c.-11C>A (n.-11C>A) | |
| 3 | g.49132139T>A | CA352753854 | LAMB2 | c.436A>T (p.Thr146Ser) c.-12A>T (n.-12A>T) | |
| 3 | g.49132139T>C | CA352753856 | LAMB2 | c.436A>G (p.Thr146Ala) c.-12A>G (n.-12A>G) | |
| 3 | g.49132139T>G | CA352753860 | LAMB2 | c.436A>C (p.Thr146Pro) c.-12A>C (n.-12A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49132139T= | CA1363343316 | LAMB2 | c.436A= (p.Thr146=) c.-12A= (n.-12A=) | |
| 3 | g.49132140G>A | CA433636284 | LAMB2 | c.435C>T (p.Phe145=) c.-13C>T (n.-13C>T) | |
| 3 | g.49132140G>C | CA352753868 | LAMB2 | c.435C>G (p.Phe145Leu) c.-13C>G (n.-13C>G) | |
| 3 | g.49132140G>T | CA352753869 | LAMB2 | c.435C>A (p.Phe145Leu) c.-13C>A (n.-13C>A) | |
| 3 | g.49132141A>C | CA352753880 | LAMB2 | c.434T>G (p.Phe145Cys) c.-14T>G (n.-14T>G) | |
| 3 | g.49132141A>G | CA352753874 | LAMB2 | c.434T>C (p.Phe145Ser) c.-14T>C (n.-14T>C) | |
| 3 | g.49132141A>T | CA352753877 | LAMB2 | c.434T>A (p.Phe145Tyr) c.-14T>A (n.-14T>A) | |
| 3 | g.49132142A>C | CA352753885 | LAMB2 | c.433T>G (p.Phe145Val) c.-15T>G (n.-15T>G) | |
| 3 | g.49132142A>G | CA352753887 | LAMB2 | c.433T>C (p.Phe145Leu) c.-15T>C (n.-15T>C) | |
| 3 | g.49132142A>T | CA352753890 | LAMB2 | c.433T>A (p.Phe145Ile) c.-15T>A (n.-15T>A) | |
| 3 | g.49132143A= | CA1363343317 | LAMB2 | c.432T= (p.His144=) c.-16T= (n.-16T=) | |
| 3 | g.49132143A>C | CA352753897 | LAMB2 | c.432T>G (p.His144Gln) c.-16T>G (n.-16T>G) | |
| 3 | g.49132143A>G | CA433636285 | LAMB2 | c.432T>C (p.His144=) c.-16T>C (n.-16T>C) | dbSNP |
| 3 | g.49132143A>T | CA352753900 | LAMB2 | c.432T>A (p.His144Gln) c.-16T>A (n.-16T>A) | |
| 3 | g.49132144T>A | CA352753912 | LAMB2 | c.431A>T (p.His144Leu) c.-17A>T (n.-17A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132144T>C | CA2394929 | LAMB2 | c.431A>G (p.His144Arg) c.-17A>G (n.-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.49132144T>G | CA352753906 | LAMB2 | c.431A>C (p.His144Pro) c.-17A>C (n.-17A>C) | |
| 3 | g.49132144T= | CA1363343318 | LAMB2 | c.431A= (p.His144=) c.-17A= (n.-17A=) | |
| 3 | g.49132145G>A | CA352753918 | LAMB2 | c.430C>T (p.His144Tyr) c.-18C>T (n.-18C>T) | |
| 3 | g.49132145G>C | CA352753922 | LAMB2 | c.430C>G (p.His144Asp) c.-18C>G (n.-18C>G) | |
| 3 | g.49132145G= | CA1363343319 | LAMB2 | c.430C= (p.His144=) c.-18C= (n.-18C=) | |
| 3 | g.49132145G>T | CA352753926 | LAMB2 | c.430C>A (p.His144Asn) c.-18C>A (n.-18C>A) | |
| 3 | g.49132146A>C | CA352753933 | LAMB2 | c.429T>G (p.Phe143Leu) c.-19T>G (n.-19T>G) | |
| 3 | g.49132146A>G | CA433636286 | LAMB2 | c.429T>C (p.Phe143=) c.-19T>C (n.-19T>C) | |
| 3 | g.49132146A>T | CA352753937 | LAMB2 | c.429T>A (p.Phe143Leu) c.-19T>A (n.-19T>A) | |
| 3 | g.49132148dup | CA74489665 | LAMB2 | c.429dup (p.His144SerfsTer?) c.-19dup (n.-19dup) | dbSNP |
| 3 | g.49132147A>C | CA352753942 | LAMB2 | c.428T>G (p.Phe143Cys) c.-20T>G (n.-20T>G) | |
| 3 | g.49132147A>G | CA352753948 | LAMB2 | c.428T>C (p.Phe143Ser) c.-20T>C (n.-20T>C) | |
| 3 | g.49132147A>T | CA352753945 | LAMB2 | c.428T>A (p.Phe143Tyr) c.-20T>A (n.-20T>A) | |
| 3 | g.49132148A>C | CA352753955 | LAMB2 | c.427T>G (p.Phe143Val) c.-21T>G (n.-21T>G) | |
| 3 | g.49132148A>G | CA352753958 | LAMB2 | c.427T>C (p.Phe143Leu) c.-21T>C (n.-21T>C) | |
| 3 | g.49132148A>T | CA352753962 | LAMB2 | c.427T>A (p.Phe143Ile) c.-21T>A (n.-21T>A) | |
| 3 | g.49132149C>A | CA352753966 | LAMB2 | c.426G>T (p.Glu142Asp) c.-22G>T (n.-22G>T) | gnomAD v4 |
| 3 | g.49132149C>G | CA352753978 | LAMB2 | c.426G>C (p.Glu142Asp) c.-22G>C (n.-22G>C) | gnomAD v4 |
| 3 | g.49132149C>T | CA433636287 | LAMB2 | c.426G>A (p.Glu142=) c.-22G>A (n.-22G>A) | |
| 3 | g.49132150T>A | CA352753981 | LAMB2 | c.425A>T (p.Glu142Val) c.-23A>T (n.-23A>T) | |
| 3 | g.49132150T>C | CA352753984 | LAMB2 | c.425A>G (p.Glu142Gly) c.-23A>G (n.-23A>G) | |
| 3 | g.49132150T>G | CA352753986 | LAMB2 | c.425A>C (p.Glu142Ala) c.-23A>C (n.-23A>C) | |
| 3 | g.49132151C>A | CA352753989 | LAMB2 | c.424G>T (p.Glu142Ter) c.-24G>T (n.-24G>T) | |
| 3 | g.49132151C= | CA1363343320 | LAMB2 | c.424G= (p.Glu142=) c.-24G= (n.-24G=) | |
| 3 | g.49132151C>G | CA352753993 | LAMB2 | c.424G>C (p.Glu142Gln) c.-24G>C (n.-24G>C) | |
| 3 | g.49132151C>T | CA2394930 | LAMB2 | c.424G>A (p.Glu142Lys) c.-24G>A (n.-24G>A) | dbSNP ExAC |
| 3 | g.49132152A= | CA1363343321 | LAMB2 | c.423T= (p.Ala141=) c.-25T= (n.-25T=) | |
| 3 | g.49132152A>C | CA433636288 | LAMB2 | c.423T>G (p.Ala141=) c.-25T>G (n.-25T>G) | |
| 3 | g.49132152A>G | CA433636290 | LAMB2 | c.423T>C (p.Ala141=) c.-25T>C (n.-25T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49132152A>T | CA433636289 | LAMB2 | c.423T>A (p.Ala141=) c.-25T>A (n.-25T>A) | |
| 3 | g.49132153G>A | CA352753997 | LAMB2 | c.422C>T (p.Ala141Val) c.-26C>T (n.-26C>T) | |
| 3 | g.49132153G>C | CA352754000 | LAMB2 | c.422C>G (p.Ala141Gly) c.-26C>G (n.-26C>G) | |
| 3 | g.49132153G>T | CA352753998 | LAMB2 | c.422C>A (p.Ala141Asp) c.-26C>A (n.-26C>A) | |
| 3 | g.49132154C>A | CA352754001 | LAMB2 | c.421G>T (p.Ala141Ser) c.-27G>T (n.-27G>T) | gnomAD v4 |
| 3 | g.49132154C= | CA1363343322 | LAMB2 | c.421G= (p.Ala141=) c.-27G= (n.-27G=) | |
| 3 | g.49132154C>G | CA352754007 | LAMB2 | c.421G>C (p.Ala141Pro) c.-27G>C (n.-27G>C) | dbSNP |
| 3 | g.49132154C>T | CA352754004 | LAMB2 | c.421G>A (p.Ala141Thr) c.-27G>A (n.-27G>A) | |
| 3 | g.49132155C>A | CA352754011 | LAMB2 | c.420G>T (p.Glu140Asp) c.-27-1G>T (n.-27-1G>T) | |
| 3 | g.49132155C>G | CA352754015 | LAMB2 | c.420G>C (p.Glu140Asp) c.-27-1G>C (n.-27-1G>C) | |
| 3 | g.49132155C>T | CA433636291 | LAMB2 | c.420G>A (p.Glu140=) c.-27-1G>A (n.-27-1G>A) | gnomAD v4 |
| 3 | g.49132156T>A | CA352754022 | LAMB2 | c.419A>T (p.Glu140Val) c.-27-2A>T (n.-27-2A>T) | |
| 3 | g.49132156T>C | CA352754025 | LAMB2 | c.419A>G (p.Glu140Gly) c.-27-2A>G (n.-27-2A>G) | |
| 3 | g.49132156T>G | CA352754032 | LAMB2 | c.419A>C (p.Glu140Ala) c.-27-2A>C (n.-27-2A>C) | |
| 3 | g.49132157C>A | CA352754035 | LAMB2 | c.418G>T (p.Glu140Ter) c.-27-3G>T (n.-27-3G>T) | |
| 3 | g.49132157C>G | CA352754036 | LAMB2 | c.418G>C (p.Glu140Gln) c.-27-3G>C (n.-27-3G>C) | |
| 3 | g.49132157C>T | CA352754037 | LAMB2 | c.418G>A (p.Glu140Lys) c.-27-3G>A (n.-27-3G>A) | |
| 3 | g.49132158C>A | CA433636292 | LAMB2 | c.417G>T (p.Leu139=) c.-27-4G>T (n.-27-4G>T) | |
| 3 | g.49132158C>G | CA433636293 | LAMB2 | c.417G>C (p.Leu139=) c.-27-4G>C (n.-27-4G>C) | |
| 3 | g.49132158C>T | CA433636294 | LAMB2 | c.417G>A (p.Leu139=) c.-27-4G>A (n.-27-4G>A) | |
| 3 | g.49132159A= | CA1363343323 | LAMB2 | c.416T= (p.Leu139=) c.-27-5T= (n.-27-5T=) | |
| 3 | g.49132159A>C | CA352754040 | LAMB2 | c.416T>G (p.Leu139Arg) c.-27-5T>G (n.-27-5T>G) | |
| 3 | g.49132159A>G | CA352754043 | LAMB2 | c.416T>C (p.Leu139Pro) c.-27-5T>C (n.-27-5T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.49132159A>T | CA352754047 | LAMB2 | c.416T>A (p.Leu139Gln) c.-27-5T>A (n.-27-5T>A) | |
| 3 | g.49132160G>A | CA433636295 | LAMB2 | c.415C>T (p.Leu139=) c.-27-6C>T (n.-27-6C>T) | |
| 3 | g.49132160G>C | CA352754051 | LAMB2 | c.415C>G (p.Leu139Val) c.-27-6C>G (n.-27-6C>G) | gnomAD v4 |
| 3 | g.49132160G>T | CA352754053 | LAMB2 | c.415C>A (p.Leu139Met) c.-27-6C>A (n.-27-6C>A) |