6 | g.49458998T>C | CA138800811 | MMUT | c.385+84A>G (n.385+84A>G)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49458998T= | CA1627396297 | MMUT | c.385+84A= (n.385+84A=)
| |
6 | g.49459000T>C | CA2679047243 | MMUT | c.385+82A>G (n.385+82A>G)
| gnomAD v4 |
6 | g.49459001A>T | CA2578675226 | MMUT | c.385+81T>A (n.385+81T>A)
| gnomAD v4 |
6 | g.49459002C>T | CA2679047247 | MMUT | c.385+80G>A (n.385+80G>A)
| gnomAD v4 |
6 | g.49459003A>C | CA2679047249 | MMUT | c.385+79T>G (n.385+79T>G)
| gnomAD v4 |
6 | g.49459003A>T | CA2679047250 | MMUT | c.385+79T>A (n.385+79T>A)
| gnomAD v4 |
6 | g.49459004G>T | CA2679047251 | MMUT | c.385+78C>A (n.385+78C>A)
| gnomAD v4 |
6 | g.49459004_49459005insCC | CA2535233250 | MMUT | c.385+77_385+78insGG (n.385+77_385+78insGG)
| |
6 | g.49459005A>G | CA2578675227 | MMUT | c.385+77T>C (n.385+77T>C)
| |
6 | g.49459005A>T | CA2679047254 | MMUT | c.385+77T>A (n.385+77T>A)
| gnomAD v4 |
6 | g.49459005_49459006insAATAATCAG | CA2548345037 | MMUT | c.385+76_385+77insCTGATTATT (n.385+76_385+77insCTGATTATT)
| |
6 | g.49459006G>T | CA650898865 | MMUT | c.385+76C>A (n.385+76C>A)
| gnomAD v4 COSMIC |
6 | g.49459008T>C | CA825483474 | MMUT | c.385+74A>G (n.385+74A>G)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459008T= | CA1627396301 | MMUT | c.385+74A= (n.385+74A=)
| |
6 | g.49459009_49459020del | CA2679047260 | MMUT | c.385+62_385+73del (n.385+62_385+73del)
| gnomAD v4 |
6 | g.49459010A= | CA1627396304 | MMUT | c.385+72T= (n.385+72T=)
| |
6 | g.49459010A>T | CA138800814 | MMUT | c.385+72T>A (n.385+72T>A)
| dbSNP gnomAD v4 |
6 | g.49459012C>A | CA1088813506 | MMUT | c.385+70G>T (n.385+70G>T)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459012C= | CA1627396305 | MMUT | c.385+70G= (n.385+70G=)
| |
6 | g.49459012C>T | CA2679047267 | MMUT | c.385+70G>A (n.385+70G>A)
| gnomAD v4 |
6 | g.49459016dup | CA2679047263 | MMUT | c.385+70dup (n.385+70dup)
| gnomAD v4 |
6 | g.49459016del | CA2578675228 | MMUT | c.385+70del (n.385+70del)
| gnomAD v4 |
6 | g.49459013C>A | CA2679047274 | MMUT | c.385+69G>T (n.385+69G>T)
| gnomAD v4 |
6 | g.49459013C= | CA1627396306 | MMUT | c.385+69G= (n.385+69G=)
| |
6 | g.49459013C>T | CA825483476 | MMUT | c.385+69G>A (n.385+69G>A)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459014C>A | CA2578675229 | MMUT | c.385+68G>T (n.385+68G>T)
| gnomAD v4 |
6 | g.49459014C>T | CA2679047276 | MMUT | c.385+68G>A (n.385+68G>A)
| gnomAD v4 |
6 | g.49459015C>G | CA2679047278 | MMUT | c.385+67G>C (n.385+67G>C)
| gnomAD v4 |
6 | g.49459015C>T | CA2679047279 | MMUT | c.385+67G>A (n.385+67G>A)
| gnomAD v4 |
6 | g.49459016C>A | CA825483477 | MMUT | c.385+66G>T (n.385+66G>T)
| dbSNP gnomAD v4 |
6 | g.49459016C= | CA1627396307 | MMUT | c.385+66G= (n.385+66G=)
| |
6 | g.49459016C>T | CA2679047282 | MMUT | c.385+66G>A (n.385+66G>A)
| gnomAD v4 |
6 | g.49459017A= | CA1627396313 | MMUT | c.385+65T= (n.385+65T=)
| |
6 | g.49459017A>C | CA138800818 | MMUT | c.385+65T>G (n.385+65T>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459022dup | CA2679047286 | MMUT | c.385+65dup (n.385+65dup)
| gnomAD v4 |
6 | g.49459022del | CA2679047287 | MMUT | c.385+65del (n.385+65del)
| gnomAD v4 |
6 | g.49459021A>G | CA2679047295 | MMUT | c.385+61T>C (n.385+61T>C)
| gnomAD v4 |
6 | g.49459022A>C | CA2679047298 | MMUT | c.385+60T>G (n.385+60T>G)
| gnomAD v4 |
6 | g.49459022A>G | CA2679047301 | MMUT | c.385+60T>C (n.385+60T>C)
| gnomAD v4 |
6 | g.49459023T>C | CA1627396317 | MMUT | c.385+59A>G (n.385+59A>G)
| dbSNP gnomAD v4 |
6 | g.49459023T= | CA1627396316 | MMUT | c.385+59A= (n.385+59A=)
| |
6 | g.49459023_49459024insG | CA2543157255 | MMUT | c.385+58_385+59insC (n.385+58_385+59insC)
| |
6 | g.49459024A>C | CA2679047307 | MMUT | c.385+58T>G (n.385+58T>G)
| gnomAD v4 |
6 | g.49459029dup | CA566931418 | MMUT | c.385+58dup (n.385+58dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459029del | CA2679047306 | MMUT | c.385+58del (n.385+58del)
| gnomAD v4 |
6 | g.49459029A>C | CA2711790947 | MMUT | c.385+53T>G (n.385+53T>G)
| dbSNP |
6 | g.49459029A>G | CA2679047308 | MMUT | c.385+53T>C (n.385+53T>C)
| gnomAD v4 |
6 | g.49459029A>T | CA2679047309 | MMUT | c.385+53T>A (n.385+53T>A)
| gnomAD v4 |
6 | g.49459030C= | CA1627396319 | MMUT | c.385+52G= (n.385+52G=)
| |
6 | g.49459030C>T | CA138800819 | MMUT | c.385+52G>A (n.385+52G>A)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459032A= | CA1627396322 | MMUT | c.385+50T= (n.385+50T=)
| |
6 | g.49459032A>C | CA1627396321 | MMUT | c.385+50T>G (n.385+50T>G)
| dbSNP |
6 | g.49459033G>C | CA2578675230 | MMUT | c.385+49C>G (n.385+49C>G)
| gnomAD v4 |
6 | g.49459034G>A | CA1088813511 | MMUT | c.385+48C>T (n.385+48C>T)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459034G= | CA1627396323 | MMUT | c.385+48C= (n.385+48C=)
| |
6 | g.49459034G>T | CA2679047311 | MMUT | c.385+48C>A (n.385+48C>A)
| gnomAD v4 |
6 | g.49459035A>C | CA2679047313 | MMUT | c.385+47T>G (n.385+47T>G)
| gnomAD v4 |
6 | g.49459035A>G | CA2578675231 | MMUT | c.385+47T>C (n.385+47T>C)
| |
6 | g.49459035_49459036delinsAG | CA1627396325 | MMUT | c.385+46_385+47delinsCT (n.385+46_385+47delinsCT)
| |
6 | g.49459036G>A | CA2679047319 | MMUT | c.385+46C>T (n.385+46C>T)
| gnomAD v4 |
6 | g.49459036G>C | CA3847123 | MMUT | c.385+46C>G (n.385+46C>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459036G= | CA1627396334 | MMUT | c.385+46C= (n.385+46C=)
| |
6 | g.49459036G>T | CA1627396337 | MMUT | c.385+46C>A (n.385+46C>A)
| dbSNP gnomAD v4 |
6 | g.49459037del | CA235531 | MMUT | c.385+46del (n.385+46del)
| ClinVar dbSNP |
6 | g.49459037G>A | CA566931420 | MMUT | c.385+45C>T (n.385+45C>T)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459037G= | CA1627396339 | MMUT | c.385+45C= (n.385+45C=)
| |
6 | g.49459037G>T | CA2679047337 | MMUT | c.385+45C>A (n.385+45C>A)
| gnomAD v4 |
6 | g.49459038C>A | CA2679047340 | MMUT | c.385+44G>T (n.385+44G>T)
| gnomAD v4 |
6 | g.49459038C>T | CA2711791008 | MMUT | c.385+44G>A (n.385+44G>A)
| dbSNP |
6 | g.49459038_49459039delinsCA | CA1627396341 | MMUT | c.385+43_385+44delinsTG (n.385+43_385+44delinsTG)
| |
6 | g.49459039del | CA235530 | MMUT | c.385+43del (n.385+43del)
| ClinVar dbSNP |
6 | g.49459039A>G | CA2679047344 | MMUT | c.385+43T>C (n.385+43T>C)
| gnomAD v4 |
6 | g.49459040T>A | CA2578675232 | MMUT | c.385+42A>T (n.385+42A>T)
| |
6 | g.49459041_49459042delinsAT | CA1627396347 | MMUT | c.385+40_385+41delinsAT (n.385+40_385+41delinsAT)
| |
6 | g.49459042del | CA1627396349 | MMUT | c.385+40del (n.385+40del)
| dbSNP |
6 | g.49459042T>A | CA1627396351 | MMUT | c.385+40A>T (n.385+40A>T)
| dbSNP gnomAD v4 |
6 | g.49459042T= | CA1627396350 | MMUT | c.385+40A= (n.385+40A=)
| |
6 | g.49459043G>A | CA2711532912 | MMUT | c.385+39C>T (n.385+39C>T)
| dbSNP |
6 | g.49459043G= | CA1627396353 | MMUT | c.385+39C= (n.385+39C=)
| |
6 | g.49459043G>T | CA825483493 | MMUT | c.385+39C>A (n.385+39C>A)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459044A= | CA1627396356 | MMUT | c.385+38T= (n.385+38T=)
| |
6 | g.49459044A>C | CA1627396355 | MMUT | c.385+38T>G (n.385+38T>G)
| dbSNP gnomAD v4 |
6 | g.49459044A>G | CA3847124 | MMUT | c.385+38T>C (n.385+38T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459047T= | CA1627396357 | MMUT | c.385+35A= (n.385+35A=)
| |
6 | g.49459047_49459048insG | CA235529 | MMUT | c.385+34_385+35insC (n.385+34_385+35insC)
| ClinVar dbSNP |
6 | g.49459048A>G | CA2679047360 | MMUT | c.385+34T>C (n.385+34T>C)
| gnomAD v4 |
6 | g.49459049T>C | CA1088813516 | MMUT | c.385+33A>G (n.385+33A>G)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459049T>G | CA235528 | MMUT | c.385+33A>C (n.385+33A>C)
| ClinVar dbSNP |
6 | g.49459049T= | CA1627396362 | MMUT | c.385+33A= (n.385+33A=)
| |
6 | g.49459050_49459051delinsCA | CA1627396367 | MMUT | c.385+31_385+32delinsTG (n.385+31_385+32delinsTG)
| |
6 | g.49459050_49459052delinsCAT | CA1627396368 | MMUT | c.385+30_385+32delinsATG (n.385+30_385+32delinsATG)
| |
6 | g.49459051del | CA235527 | MMUT | c.385+31del (n.385+31del)
| ClinVar dbSNP |
6 | g.49459051_49459052delinsAT | CA1627396371 | MMUT | c.385+30_385+31delinsAT (n.385+30_385+31delinsAT)
| |
6 | g.49459052_49459053del | CA917744659 | MMUT | c.385+30_385+31del (n.385+30_385+31del)
| dbSNP |
6 | g.49459052del | CA917744660 | MMUT | c.385+30del (n.385+30del)
| dbSNP |
6 | g.49459052T>A | CA566931423 | MMUT | c.385+30A>T (n.385+30A>T)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459052T>G | CA235526 | MMUT | c.385+30A>C (n.385+30A>C)
| ClinVar dbSNP |
6 | g.49459052T= | CA1627396379 | MMUT | c.385+30A= (n.385+30A=)
| |
6 | g.49459052_49459053delinsTA | CA1627396381 | MMUT | c.385+29_385+30delinsTA (n.385+29_385+30delinsTA)
| |
6 | g.49459055del | CA235525 | MMUT | c.385+29del (n.385+29del)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459055_49459057del | CA2679047377 | MMUT | c.385+26_385+28del (n.385+26_385+28del)
| gnomAD v4 |
6 | g.49459054_49459059delinsAATATT | CA1627396386 | MMUT | c.385+23_385+28delinsAATATT (n.385+23_385+28delinsAATATT)
| |
6 | g.49459057_49459061del | CA3847125 | MMUT | c.385+23_385+27del (n.385+23_385+27del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459060A= | CA1627396389 | MMUT | c.385+22T= (n.385+22T=)
| |
6 | g.49459060A>C | CA138800896 | MMUT | c.385+22T>G (n.385+22T>G)
| dbSNP |
6 | g.49459060A>G | CA1627396390 | MMUT | c.385+22T>C (n.385+22T>C)
| dbSNP |
6 | g.49459061T>C | CA3847126 | MMUT | c.385+21A>G (n.385+21A>G)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459061T= | CA1627396392 | MMUT | c.385+21A= (n.385+21A=)
| |
6 | g.49459062_49459063del | CA2770993578 | MMUT | c.385+20_385+21del (n.385+20_385+21del)
| |
6 | g.49459062G>A | CA3847127 | MMUT | c.385+20C>T (n.385+20C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459062G>C | CA3847128 | MMUT | c.385+20C>G (n.385+20C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459062G= | CA1627396396 | MMUT | c.385+20C= (n.385+20C=)
| |
6 | g.49459063T= | CA1627396400 | MMUT | c.385+19A= (n.385+19A=)
| |
6 | g.49459063_49459064insA | CA235524 | MMUT | c.385+18_385+19insT (n.385+18_385+19insT)
| ClinVar dbSNP |
6 | g.49459065T>G | CA3847129 | MMUT | c.385+17A>C (n.385+17A>C)
| dbSNP ExAC gnomAD v2 |
6 | g.49459065T= | CA1627396406 | MMUT | c.385+17A= (n.385+17A=)
| |
6 | g.49459066T>A | CA2679047392 | MMUT | c.385+16A>T (n.385+16A>T)
| gnomAD v4 |
6 | g.49459066T>C | CA2532368452 | MMUT | c.385+16A>G (n.385+16A>G)
| |
6 | g.49459067A= | CA1627396408 | MMUT | c.385+15T= (n.385+15T=)
| |
6 | g.49459067A>C | CA3847130 | MMUT | c.385+15T>G (n.385+15T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459068C= | CA1627396411 | MMUT | c.385+14G= (n.385+14G=)
| |
6 | g.49459068C>T | CA220550 | MMUT | c.385+14G>A (n.385+14G>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459071T>G | CA3847131 | MMUT | c.385+11A>C (n.385+11A>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459071T= | CA1627396414 | MMUT | c.385+11A= (n.385+11A=)
| |
6 | g.49459072A= | CA1627396416 | MMUT | c.385+10T= (n.385+10T=)
| |
6 | g.49459072A>C | CA1088813533 | MMUT | c.385+10T>G (n.385+10T>G)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459073A= | CA1627396421 | MMUT | c.385+9T= (n.385+9T=)
| |
6 | g.49459073A>G | CA235523 | MMUT | c.385+9T>C (n.385+9T>C)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459076T>C | CA566931434 | MMUT | c.385+6A>G (n.385+6A>G)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459076T= | CA1627396424 | MMUT | c.385+6A= (n.385+6A=)
| |
6 | g.49459077C>A | CA2528531386 | MMUT | c.385+5G>T (n.385+5G>T)
| |
6 | g.49459077C= | CA1627396427 | MMUT | c.385+5G= (n.385+5G=)
| |
6 | g.49459077C>T | CA566931435 | MMUT | c.385+5G>A (n.385+5G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459078_49459079insACCCTTA | CA2695206693 | MMUT | c.385+3_385+4insTAAGGGT (n.385+3_385+4insTAAGGGT)
| |
6 | g.49459080A= | CA1627396441 | MMUT | c.385+2T= (n.385+2T=)
| |
6 | g.49459080A>C | CA364404844 | MMUT | c.385+2T>G (n.385+2T>G)
| |
6 | g.49459080A>G | CA364404845 | MMUT | c.385+2T>C (n.385+2T>C)
| ClinVar dbSNP gnomAD v4 |
6 | g.49459080A>T | CA364404846 | MMUT | c.385+2T>A (n.385+2T>A)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459081C>A | CA364404847 | MMUT | c.385+1G>T (n.385+1G>T)
| |
6 | g.49459081C= | CA1627396446 | MMUT | c.385+1G= (n.385+1G=)
| |
6 | g.49459081C>G | CA364404848 | MMUT | c.385+1G>C (n.385+1G>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459081C>T | CA364404849 | MMUT | c.385+1G>A (n.385+1G>A)
| |
6 | g.49459083del | CA2578675233 | MMUT | c.385+1del
| |
6 | g.49459082C>A | CA364404850 | MMUT | c.385G>T (p.Ala129Ser)
| gnomAD v4 |
6 | g.49459082C>G | CA364404851 | MMUT | c.385G>C (p.Ala129Pro)
| |
6 | g.49459082C>T | CA364404852 | MMUT | c.385G>A (p.Ala129Thr)
| |
6 | g.49459087_49459098del | CA2695206694 | MMUT | c.374_385del (p.Asp125_Lys128del)
| |
6 | g.49459083C>A | CA364404853 | MMUT | c.384G>T (p.Lys128Asn)
| COSMIC |
6 | g.49459083C= | CA1627396449 | MMUT | c.384G= (p.Lys128=)
| |
6 | g.49459083C>G | CA364404854 | MMUT | c.384G>C (p.Lys128Asn)
| dbSNP |
6 | g.49459083C>T | CA450399542 | MMUT | c.384G>A (p.Lys128=)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459084T>A | CA364404856 | MMUT | c.383A>T (p.Lys128Met)
| |
6 | g.49459084T>C | CA364404857 | MMUT | c.383A>G (p.Lys128Arg)
| ClinVar gnomAD v4 |
6 | g.49459084T>G | CA364404855 | MMUT | c.383A>C (p.Lys128Thr)
| dbSNP |
6 | g.49459084T= | CA1627396452 | MMUT | c.383A= (p.Lys128=)
| |
6 | g.49459085del | CA2830782663 | MMUT | c.383del (p.Lys128ArgfsTer?)
| |
6 | g.49459085T>A | CA364404858 | MMUT | c.382A>T (p.Lys128Ter)
| |
6 | g.49459085T>C | CA364404859 | MMUT | c.382A>G (p.Lys128Glu)
| |
6 | g.49459085T>G | CA364404860 | MMUT | c.382A>C (p.Lys128Gln)
| |
6 | g.49459086A>C | CA364404861 | MMUT | c.381T>G (p.Ile127Met)
| |
6 | g.49459086A>G | CA450399550 | MMUT | c.381T>C (p.Ile127=)
| |
6 | g.49459086A>T | CA450399552 | MMUT | c.381T>A (p.Ile127=)
| |
6 | g.49459087A>C | CA364404862 | MMUT | c.380T>G (p.Ile127Ser)
| |
6 | g.49459087A>G | CA364404863 | MMUT | c.380T>C (p.Ile127Thr)
| |
6 | g.49459087A>T | CA364404864 | MMUT | c.380T>A (p.Ile127Asn)
| |
6 | g.49459088T>A | CA364404865 | MMUT | c.379A>T (p.Ile127Phe)
| |
6 | g.49459088T>C | CA364404867 | MMUT | c.379A>G (p.Ile127Val)
| dbSNP gnomAD v3 gnomAD v4 |
6 | g.49459088T>G | CA364404866 | MMUT | c.379A>C (p.Ile127Leu)
| |
6 | g.49459088T= | CA1627396458 | MMUT | c.379A= (p.Ile127=)
| |
6 | g.49459089G>A | CA450399560 | MMUT | c.378C>T (p.Asn126=)
| gnomAD v4 |
6 | g.49459089G>C | CA364404868 | MMUT | c.378C>G (p.Asn126Lys)
| |
6 | g.49459089G= | CA1627396466 | MMUT | c.378C= (p.Asn126=)
| |
6 | g.49459089G>T | CA10575884 | MMUT | c.378C>A (p.Asn126Lys)
| ClinVar dbSNP |
6 | g.49459090T>A | CA364404869 | MMUT | c.377A>T (p.Asn126Ile)
| |
6 | g.49459090T>C | CA364404870 | MMUT | c.377A>G (p.Asn126Ser)
| gnomAD v4 |
6 | g.49459090T>G | CA364404871 | MMUT | c.377A>C (p.Asn126Thr)
| |
6 | g.49459091dup | CA2695206695 | MMUT | c.377dup (p.Asn126LysfsTer3)
| |
6 | g.49459091T>A | CA364404872 | MMUT | c.376A>T (p.Asn126Tyr)
| |
6 | g.49459091T>C | CA364404874 | MMUT | c.376A>G (p.Asn126Asp)
| dbSNP |
6 | g.49459091T>G | CA364404873 | MMUT | c.376A>C (p.Asn126His)
| gnomAD v4 |
6 | g.49459091T= | CA1627396472 | MMUT | c.376A= (p.Asn126=)
| |
6 | g.49459092G>A | CA450399568 | MMUT | c.375C>T (p.Asp125=)
| |
6 | g.49459092G>C | CA364404875 | MMUT | c.375C>G (p.Asp125Glu)
| |
6 | g.49459092G= | CA1627396475 | MMUT | c.375C= (p.Asp125=)
| |
6 | g.49459092G>T | CA364404876 | MMUT | c.375C>A (p.Asp125Glu)
| |
6 | g.49459093T>A | CA364404877 | MMUT | c.374A>T (p.Asp125Val)
| |
6 | g.49459093T>C | CA364404878 | MMUT | c.374A>G (p.Asp125Gly)
| |
6 | g.49459093T>G | CA364404879 | MMUT | c.374A>C (p.Asp125Ala)
| |
6 | g.49459094_49459096dup | CA312788 | MMUT | c.372_374dup (p.Lys124_Asp125insGlu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.49459094C>A | CA364404880 | MMUT | c.373G>T (p.Asp125Tyr)
| |
6 | g.49459094C= | CA1627396485 | MMUT | c.373G= (p.Asp125=)
| |
6 | g.49459094C>G | CA364404881 | MMUT | c.373G>C (p.Asp125His)
| |
6 | g.49459094C>T | CA364404882 | MMUT | c.373G>A (p.Asp125Asn)
| dbSNP gnomAD v2 gnomAD v4 |
6 | g.49459095C>A | CA364404883 | MMUT | c.372G>T (p.Lys124Asn)
| |
6 | g.49459095C>G | CA364404884 | MMUT | c.372G>C (p.Lys124Asn)
| |
6 | g.49459095C>T | CA450399584 | MMUT | c.372G>A (p.Lys124=)
| |
6 | g.49459096T>A | CA364404885 | MMUT | c.371A>T (p.Lys124Met)
| |
6 | g.49459096T>C | CA364404887 | MMUT | c.371A>G (p.Lys124Arg)
| |
6 | g.49459096T>G | CA364404886 | MMUT | c.371A>C (p.Lys124Thr)
| |
6 | g.49459097T>A | CA364404888 | MMUT | c.370A>T (p.Lys124Ter)
| |
6 | g.49459097T>C | CA3847132 | MMUT | c.370A>G (p.Lys124Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.49459097T>G | CA364404889 | MMUT | c.370A>C (p.Lys124Gln)
| |
6 | g.49459097T= | CA1627396490 | MMUT | c.370A= (p.Lys124=)
| |
6 | g.49459098A>C | CA364404890 | MMUT | c.369T>G (p.Tyr123Ter)
| gnomAD v4 |
6 | g.49459098A>G | CA450399587 | MMUT | c.369T>C (p.Tyr123=)
| gnomAD v4 |
6 | g.49459098A>T | CA364404891 | MMUT | c.369T>A (p.Tyr123Ter)
| |