Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.51788815_51788822delinsACCTGGTG | CA2369157299 | SALL4 | c.2742+39_2742+46delinsCACCAGGT (n.2742+39_2742+46delinsCACCAGGT) c.411+39_411+46delinsCACCAGGT (n.411+39_411+46delinsCACCAGGT) c.1431+39_1431+46delinsCACCAGGT (n.1431+39_1431+46delinsCACCAGGT) c.2436+39_2436+46delinsCACCAGGT (n.2436+39_2436+46delinsCACCAGGT) c.2616+39_2616+46delinsCACCAGGT (n.2616+39_2616+46delinsCACCAGGT) | |
20 | g.51788819_51788825del | CA920232270 | SALL4 | c.2742+39_2742+45del (n.2742+39_2742+45del) c.411+39_411+45del (n.411+39_411+45del) c.1431+39_1431+45del (n.1431+39_1431+45del) c.2436+39_2436+45del (n.2436+39_2436+45del) c.2616+39_2616+45del (n.2616+39_2616+45del) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51788819G>A | CA315370710 | SALL4 | c.2742+42C>T (n.2742+42C>T) c.411+42C>T (n.411+42C>T) c.1431+42C>T (n.1431+42C>T) c.2436+42C>T (n.2436+42C>T) c.2616+42C>T (n.2616+42C>T) | dbSNP |
20 | g.51788819G= | CA2369157302 | SALL4 | c.2742+42C= (n.2742+42C=) c.411+42C= (n.411+42C=) c.1431+42C= (n.1431+42C=) c.2436+42C= (n.2436+42C=) c.2616+42C= (n.2616+42C=) | |
20 | g.51788820G>A | CA2653358917 | SALL4 | c.2742+41C>T (n.2742+41C>T) c.411+41C>T (n.411+41C>T) c.1431+41C>T (n.1431+41C>T) c.2436+41C>T (n.2436+41C>T) c.2616+41C>T (n.2616+41C>T) | gnomAD v4 |
20 | g.51788820G>C | CA2653358918 | SALL4 | c.2742+41C>G (n.2742+41C>G) c.411+41C>G (n.411+41C>G) c.1431+41C>G (n.1431+41C>G) c.2436+41C>G (n.2436+41C>G) c.2616+41C>G (n.2616+41C>G) | gnomAD v4 |
20 | g.51788820G= | CA2369157303 | SALL4 | c.2742+41C= (n.2742+41C=) c.411+41C= (n.411+41C=) c.1431+41C= (n.1431+41C=) c.2436+41C= (n.2436+41C=) c.2616+41C= (n.2616+41C=) | |
20 | g.51788820G>T | CA9912020 | SALL4 | c.2742+41C>A (n.2742+41C>A) c.411+41C>A (n.411+41C>A) c.1431+41C>A (n.1431+41C>A) c.2436+41C>A (n.2436+41C>A) c.2616+41C>A (n.2616+41C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788821T>C | CA315370744 | SALL4 | c.2742+40A>G (n.2742+40A>G) c.411+40A>G (n.411+40A>G) c.1431+40A>G (n.1431+40A>G) c.2436+40A>G (n.2436+40A>G) c.2616+40A>G (n.2616+40A>G) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51788821T= | CA2369157304 | SALL4 | c.2742+40A= (n.2742+40A=) c.411+40A= (n.411+40A=) c.1431+40A= (n.1431+40A=) c.2436+40A= (n.2436+40A=) c.2616+40A= (n.2616+40A=) | |
20 | g.51788822G>A | CA315370757 | SALL4 | c.2742+39C>T (n.2742+39C>T) c.411+39C>T (n.411+39C>T) c.1431+39C>T (n.1431+39C>T) c.2436+39C>T (n.2436+39C>T) c.2616+39C>T (n.2616+39C>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788822G= | CA2369157305 | SALL4 | c.2742+39C= (n.2742+39C=) c.411+39C= (n.411+39C=) c.1431+39C= (n.1431+39C=) c.2436+39C= (n.2436+39C=) c.2616+39C= (n.2616+39C=) | |
20 | g.51788822G>T | CA2653358919 | SALL4 | c.2742+39C>A (n.2742+39C>A) c.411+39C>A (n.411+39C>A) c.1431+39C>A (n.1431+39C>A) c.2436+39C>A (n.2436+39C>A) c.2616+39C>A (n.2616+39C>A) | gnomAD v4 |
20 | g.51788823C>G | CA2653358920 | SALL4 | c.2742+38G>C (n.2742+38G>C) c.411+38G>C (n.411+38G>C) c.1431+38G>C (n.1431+38G>C) c.2436+38G>C (n.2436+38G>C) c.2616+38G>C (n.2616+38G>C) | gnomAD v4 |
20 | g.51788823C>T | CA2653358921 | SALL4 | c.2742+38G>A (n.2742+38G>A) c.411+38G>A (n.411+38G>A) c.1431+38G>A (n.1431+38G>A) c.2436+38G>A (n.2436+38G>A) c.2616+38G>A (n.2616+38G>A) | gnomAD v4 |
20 | g.51788824C= | CA2369157306 | SALL4 | c.2742+37G= (n.2742+37G=) c.411+37G= (n.411+37G=) c.1431+37G= (n.1431+37G=) c.2436+37G= (n.2436+37G=) c.2616+37G= (n.2616+37G=) | |
20 | g.51788824C>T | CA9912021 | SALL4 | c.2742+37G>A (n.2742+37G>A) c.411+37G>A (n.411+37G>A) c.1431+37G>A (n.1431+37G>A) c.2436+37G>A (n.2436+37G>A) c.2616+37G>A (n.2616+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788825T>C | CA2653358922 | SALL4 | c.2742+36A>G (n.2742+36A>G) c.411+36A>G (n.411+36A>G) c.1431+36A>G (n.1431+36A>G) c.2436+36A>G (n.2436+36A>G) c.2616+36A>G (n.2616+36A>G) | gnomAD v4 |
20 | g.51788828C>A | CA9912022 | SALL4 | c.2742+33G>T (n.2742+33G>T) c.411+33G>T (n.411+33G>T) c.1431+33G>T (n.1431+33G>T) c.2436+33G>T (n.2436+33G>T) c.2616+33G>T (n.2616+33G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788828C= | CA2369157307 | SALL4 | c.2742+33G= (n.2742+33G=) c.411+33G= (n.411+33G=) c.1431+33G= (n.1431+33G=) c.2436+33G= (n.2436+33G=) c.2616+33G= (n.2616+33G=) | |
20 | g.51788828C>T | CA2369157308 | SALL4 | c.2742+33G>A (n.2742+33G>A) c.411+33G>A (n.411+33G>A) c.1431+33G>A (n.1431+33G>A) c.2436+33G>A (n.2436+33G>A) c.2616+33G>A (n.2616+33G>A) | dbSNP gnomAD v4 |
20 | g.51788832dup | CA2653358923 | SALL4 | c.2742+33dup (n.2742+33dup) c.411+33dup (n.411+33dup) c.1431+33dup (n.1431+33dup) c.2436+33dup (n.2436+33dup) c.2616+33dup (n.2616+33dup) | gnomAD v4 |
20 | g.51788832del | CA2577428504 | SALL4 | c.2742+33del (n.2742+33del) c.411+33del (n.411+33del) c.1431+33del (n.1431+33del) c.2436+33del (n.2436+33del) c.2616+33del (n.2616+33del) | |
20 | g.51788829C>A | CA635792548 | SALL4 | c.2742+32G>T (n.2742+32G>T) c.411+32G>T (n.411+32G>T) c.1431+32G>T (n.1431+32G>T) c.2436+32G>T (n.2436+32G>T) c.2616+32G>T (n.2616+32G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788829C= | CA2369157309 | SALL4 | c.2742+32G= (n.2742+32G=) c.411+32G= (n.411+32G=) c.1431+32G= (n.1431+32G=) c.2436+32G= (n.2436+32G=) c.2616+32G= (n.2616+32G=) | |
20 | g.51788829C>T | CA635792550 | SALL4 | c.2742+32G>A (n.2742+32G>A) c.411+32G>A (n.411+32G>A) c.1431+32G>A (n.1431+32G>A) c.2436+32G>A (n.2436+32G>A) c.2616+32G>A (n.2616+32G>A) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788830C>A | CA2653358924 | SALL4 | c.2742+31G>T (n.2742+31G>T) c.411+31G>T (n.411+31G>T) c.1431+31G>T (n.1431+31G>T) c.2436+31G>T (n.2436+31G>T) c.2616+31G>T (n.2616+31G>T) | gnomAD v4 |
20 | g.51788830C= | CA2369157310 | SALL4 | c.2742+31G= (n.2742+31G=) c.411+31G= (n.411+31G=) c.1431+31G= (n.1431+31G=) c.2436+31G= (n.2436+31G=) c.2616+31G= (n.2616+31G=) | |
20 | g.51788830C>G | CA635792551 | SALL4 | c.2742+31G>C (n.2742+31G>C) c.411+31G>C (n.411+31G>C) c.1431+31G>C (n.1431+31G>C) c.2436+31G>C (n.2436+31G>C) c.2616+31G>C (n.2616+31G>C) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788831C= | CA2369157311 | SALL4 | c.2742+30G= (n.2742+30G=) c.411+30G= (n.411+30G=) c.1431+30G= (n.1431+30G=) c.2436+30G= (n.2436+30G=) c.2616+30G= (n.2616+30G=) | |
20 | g.51788831C>G | CA2816661786 | SALL4 | c.2742+30G>C (n.2742+30G>C) c.411+30G>C (n.411+30G>C) c.1431+30G>C (n.1431+30G>C) c.2436+30G>C (n.2436+30G>C) c.2616+30G>C (n.2616+30G>C) | |
20 | g.51788831C>T | CA9912023 | SALL4 | c.2742+30G>A (n.2742+30G>A) c.411+30G>A (n.411+30G>A) c.1431+30G>A (n.1431+30G>A) c.2436+30G>A (n.2436+30G>A) c.2616+30G>A (n.2616+30G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51788833A>G | CA2653358925 | SALL4 | c.2742+28T>C (n.2742+28T>C) c.411+28T>C (n.411+28T>C) c.1431+28T>C (n.1431+28T>C) c.2436+28T>C (n.2436+28T>C) c.2616+28T>C (n.2616+28T>C) | gnomAD v4 |
20 | g.51788838G>A | CA2653358926 | SALL4 | c.2742+23C>T (n.2742+23C>T) c.411+23C>T (n.411+23C>T) c.1431+23C>T (n.1431+23C>T) c.2436+23C>T (n.2436+23C>T) c.2616+23C>T (n.2616+23C>T) | gnomAD v4 |
20 | g.51788840T>C | CA2653358927 | SALL4 | c.2742+21A>G (n.2742+21A>G) c.411+21A>G (n.411+21A>G) c.1431+21A>G (n.1431+21A>G) c.2436+21A>G (n.2436+21A>G) c.2616+21A>G (n.2616+21A>G) | gnomAD v4 |
20 | g.51788841G>A | CA9912024 | SALL4 | c.2742+20C>T (n.2742+20C>T) c.411+20C>T (n.411+20C>T) c.1431+20C>T (n.1431+20C>T) c.2436+20C>T (n.2436+20C>T) c.2616+20C>T (n.2616+20C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788841G= | CA2369157312 | SALL4 | c.2742+20C= (n.2742+20C=) c.411+20C= (n.411+20C=) c.1431+20C= (n.1431+20C=) c.2436+20C= (n.2436+20C=) c.2616+20C= (n.2616+20C=) | |
20 | g.51788844_51788845insCAC | CA2816661787 | SALL4 | c.2742+16_2742+17insGTG (n.2742+16_2742+17insGTG) c.411+16_411+17insGTG (n.411+16_411+17insGTG) c.1431+16_1431+17insGTG (n.1431+16_1431+17insGTG) c.2436+16_2436+17insGTG (n.2436+16_2436+17insGTG) c.2616+16_2616+17insGTG (n.2616+16_2616+17insGTG) | |
20 | g.51788845G>A | CA9912025 | SALL4 | c.2742+16C>T (n.2742+16C>T) c.411+16C>T (n.411+16C>T) c.1431+16C>T (n.1431+16C>T) c.2436+16C>T (n.2436+16C>T) c.2616+16C>T (n.2616+16C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51788845G= | CA2369157313 | SALL4 | c.2742+16C= (n.2742+16C=) c.411+16C= (n.411+16C=) c.1431+16C= (n.1431+16C=) c.2436+16C= (n.2436+16C=) c.2616+16C= (n.2616+16C=) | |
20 | g.51788846C>T | CA2653358928 | SALL4 | c.2742+15G>A (n.2742+15G>A) c.411+15G>A (n.411+15G>A) c.1431+15G>A (n.1431+15G>A) c.2436+15G>A (n.2436+15G>A) c.2616+15G>A (n.2616+15G>A) | gnomAD v4 |
20 | g.51788847C= | CA2369157314 | SALL4 | c.2742+14G= (n.2742+14G=) c.411+14G= (n.411+14G=) c.1431+14G= (n.1431+14G=) c.2436+14G= (n.2436+14G=) c.2616+14G= (n.2616+14G=) | |
20 | g.51788847C>T | CA745392793 | SALL4 | c.2742+14G>A (n.2742+14G>A) c.411+14G>A (n.411+14G>A) c.1431+14G>A (n.1431+14G>A) c.2436+14G>A (n.2436+14G>A) c.2616+14G>A (n.2616+14G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51788848C>T | CA2577428506 | SALL4 | c.2742+13G>A (n.2742+13G>A) c.411+13G>A (n.411+13G>A) c.1431+13G>A (n.1431+13G>A) c.2436+13G>A (n.2436+13G>A) c.2616+13G>A (n.2616+13G>A) | dbSNP |
20 | g.51788849A= | CA2369157315 | SALL4 | c.2742+12T= (n.2742+12T=) c.411+12T= (n.411+12T=) c.1431+12T= (n.1431+12T=) c.2436+12T= (n.2436+12T=) c.2616+12T= (n.2616+12T=) | |
20 | g.51788849A>T | CA2369157316 | SALL4 | c.2742+12T>A (n.2742+12T>A) c.411+12T>A (n.411+12T>A) c.1431+12T>A (n.1431+12T>A) c.2436+12T>A (n.2436+12T>A) c.2616+12T>A (n.2616+12T>A) | dbSNP gnomAD v4 |
20 | g.51788849dup | CA2816661788 | SALL4 | c.2742+12dup (n.2742+12dup) c.411+12dup (n.411+12dup) c.1431+12dup (n.1431+12dup) c.2436+12dup (n.2436+12dup) c.2616+12dup (n.2616+12dup) | |
20 | g.51788850C= | CA2369157317 | SALL4 | c.2742+11G= (n.2742+11G=) c.411+11G= (n.411+11G=) c.1431+11G= (n.1431+11G=) c.2436+11G= (n.2436+11G=) c.2616+11G= (n.2616+11G=) | |
20 | g.51788850C>T | CA9912026 | SALL4 | c.2742+11G>A (n.2742+11G>A) c.411+11G>A (n.411+11G>A) c.1431+11G>A (n.1431+11G>A) c.2436+11G>A (n.2436+11G>A) c.2616+11G>A (n.2616+11G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788851A>C | CA2577428507 | SALL4 | c.2742+10T>G (n.2742+10T>G) c.411+10T>G (n.411+10T>G) c.1431+10T>G (n.1431+10T>G) c.2436+10T>G (n.2436+10T>G) c.2616+10T>G (n.2616+10T>G) | |
20 | g.51788852C= | CA2369157318 | SALL4 | c.2742+9G= (n.2742+9G=) c.411+9G= (n.411+9G=) c.1431+9G= (n.1431+9G=) c.2436+9G= (n.2436+9G=) c.2616+9G= (n.2616+9G=) | |
20 | g.51788852C>T | CA9912027 | SALL4 | c.2742+9G>A (n.2742+9G>A) c.411+9G>A (n.411+9G>A) c.1431+9G>A (n.1431+9G>A) c.2436+9G>A (n.2436+9G>A) c.2616+9G>A (n.2616+9G>A) | dbSNP ExAC gnomAD v2 |
20 | g.51788853A= | CA2369157319 | SALL4 | c.2742+8T= (n.2742+8T=) c.411+8T= (n.411+8T=) c.1431+8T= (n.1431+8T=) c.2436+8T= (n.2436+8T=) c.2616+8T= (n.2616+8T=) | |
20 | g.51788853A>C | CA2577428508 | SALL4 | c.2742+8T>G (n.2742+8T>G) c.411+8T>G (n.411+8T>G) c.1431+8T>G (n.1431+8T>G) c.2436+8T>G (n.2436+8T>G) c.2616+8T>G (n.2616+8T>G) | |
20 | g.51788853A>G | CA9912028 | SALL4 | c.2742+8T>C (n.2742+8T>C) c.411+8T>C (n.411+8T>C) c.1431+8T>C (n.1431+8T>C) c.2436+8T>C (n.2436+8T>C) c.2616+8T>C (n.2616+8T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788854A= | CA2369157320 | SALL4 | c.2742+7T= (n.2742+7T=) c.411+7T= (n.411+7T=) c.1431+7T= (n.1431+7T=) c.2436+7T= (n.2436+7T=) c.2616+7T= (n.2616+7T=) | |
20 | g.51788854A>C | CA2577428509 | SALL4 | c.2742+7T>G (n.2742+7T>G) c.411+7T>G (n.411+7T>G) c.1431+7T>G (n.1431+7T>G) c.2436+7T>G (n.2436+7T>G) c.2616+7T>G (n.2616+7T>G) | |
20 | g.51788854A>G | CA915952970 | SALL4 | c.2742+7T>C (n.2742+7T>C) c.411+7T>C (n.411+7T>C) c.1431+7T>C (n.1431+7T>C) c.2436+7T>C (n.2436+7T>C) c.2616+7T>C (n.2616+7T>C) | ClinVar dbSNP |
20 | g.51788858dup | CA2653358929 | SALL4 | c.2742+5dup (n.2742+5dup) c.411+5dup (n.411+5dup) c.1431+5dup (n.1431+5dup) c.2436+5dup (n.2436+5dup) c.2616+5dup (n.2616+5dup) | gnomAD v4 |
20 | g.51788859A>C | CA409006428 | SALL4 | c.2742+2T>G (n.2742+2T>G) c.411+2T>G (n.411+2T>G) c.1431+2T>G (n.1431+2T>G) c.2436+2T>G (n.2436+2T>G) c.2616+2T>G (n.2616+2T>G) | |
20 | g.51788859A>G | CA409006426 | SALL4 | c.2742+2T>C (n.2742+2T>C) c.411+2T>C (n.411+2T>C) c.1431+2T>C (n.1431+2T>C) c.2436+2T>C (n.2436+2T>C) c.2616+2T>C (n.2616+2T>C) | |
20 | g.51788859A>T | CA409006427 | SALL4 | c.2742+2T>A (n.2742+2T>A) c.411+2T>A (n.411+2T>A) c.1431+2T>A (n.1431+2T>A) c.2436+2T>A (n.2436+2T>A) c.2616+2T>A (n.2616+2T>A) | |
20 | g.51788860C>A | CA409006429 | SALL4 | c.2742+1G>T (n.2742+1G>T) c.411+1G>T (n.411+1G>T) c.1431+1G>T (n.1431+1G>T) c.2436+1G>T (n.2436+1G>T) c.2616+1G>T (n.2616+1G>T) | |
20 | g.51788860C>G | CA409006430 | SALL4 | c.2742+1G>C (n.2742+1G>C) c.411+1G>C (n.411+1G>C) c.1431+1G>C (n.1431+1G>C) c.2436+1G>C (n.2436+1G>C) c.2616+1G>C (n.2616+1G>C) | |
20 | g.51788860C>T | CA409006431 | SALL4 | c.2742+1G>A (n.2742+1G>A) c.411+1G>A (n.411+1G>A) c.1431+1G>A (n.1431+1G>A) c.2436+1G>A (n.2436+1G>A) c.2616+1G>A (n.2616+1G>A) | |
20 | g.51788861C>A | CA409006432 | SALL4 | c.2742G>T (p.Lys914Asn) c.411G>T (p.Lys137Asn) c.1431G>T (p.Lys477Asn) c.2436G>T (p.Lys812Asn) c.2616G>T (p.Lys872Asn) | COSMIC |
20 | g.51788861C>G | CA409006433 | SALL4 | c.2742G>C (p.Lys914Asn) c.411G>C (p.Lys137Asn) c.1431G>C (p.Lys477Asn) c.2436G>C (p.Lys812Asn) c.2616G>C (p.Lys872Asn) | |
20 | g.51788861C>T | CA511025669 | SALL4 | c.2742G>A (p.Lys914=) c.411G>A (p.Lys137=) c.1431G>A (p.Lys477=) c.2436G>A (p.Lys812=) c.2616G>A (p.Lys872=) | |
20 | g.51788862T>A | CA409006434 | SALL4 | c.2741A>T (p.Lys914Met) c.410A>T (p.Lys137Met) c.1430A>T (p.Lys477Met) c.2435A>T (p.Lys812Met) c.2615A>T (p.Lys872Met) | |
20 | g.51788862T>C | CA409006435 | SALL4 | c.2741A>G (p.Lys914Arg) c.410A>G (p.Lys137Arg) c.1430A>G (p.Lys477Arg) c.2435A>G (p.Lys812Arg) c.2615A>G (p.Lys872Arg) | |
20 | g.51788862T>G | CA409006436 | SALL4 | c.2741A>C (p.Lys914Thr) c.410A>C (p.Lys137Thr) c.1430A>C (p.Lys477Thr) c.2435A>C (p.Lys812Thr) c.2615A>C (p.Lys872Thr) | |
20 | g.51788863T>A | CA409006437 | SALL4 | c.2740A>T (p.Lys914Ter) c.409A>T (p.Lys137Ter) c.1429A>T (p.Lys477Ter) c.2434A>T (p.Lys812Ter) c.2614A>T (p.Lys872Ter) | |
20 | g.51788863T>C | CA409006438 | SALL4 | c.2740A>G (p.Lys914Glu) c.409A>G (p.Lys137Glu) c.1429A>G (p.Lys477Glu) c.2434A>G (p.Lys812Glu) c.2614A>G (p.Lys872Glu) | |
20 | g.51788863T>G | CA409006439 | SALL4 | c.2740A>C (p.Lys914Gln) c.409A>C (p.Lys137Gln) c.1429A>C (p.Lys477Gln) c.2434A>C (p.Lys812Gln) c.2614A>C (p.Lys872Gln) | |
20 | g.51788864T>A | CA409006441 | SALL4 | c.2739A>T (p.Leu913Phe) c.408A>T (p.Leu136Phe) c.1428A>T (p.Leu476Phe) c.2433A>T (p.Leu811Phe) c.2613A>T (p.Leu871Phe) | |
20 | g.51788864T>C | CA511025671 | SALL4 | c.2739A>G (p.Leu913=) c.408A>G (p.Leu136=) c.1428A>G (p.Leu476=) c.2433A>G (p.Leu811=) c.2613A>G (p.Leu871=) | |
20 | g.51788864T>G | CA409006440 | SALL4 | c.2739A>C (p.Leu913Phe) c.408A>C (p.Leu136Phe) c.1428A>C (p.Leu476Phe) c.2433A>C (p.Leu811Phe) c.2613A>C (p.Leu871Phe) | |
20 | g.51788865A>C | CA409006442 | SALL4 | c.2738T>G (p.Leu913Ter) c.407T>G (p.Leu136Ter) c.1427T>G (p.Leu476Ter) c.2432T>G (p.Leu811Ter) c.2612T>G (p.Leu871Ter) | |
20 | g.51788865A>G | CA409006443 | SALL4 | c.2738T>C (p.Leu913Ser) c.407T>C (p.Leu136Ser) c.1427T>C (p.Leu476Ser) c.2432T>C (p.Leu811Ser) c.2612T>C (p.Leu871Ser) | |
20 | g.51788865A>T | CA409006444 | SALL4 | c.2738T>A (p.Leu913Ter) c.407T>A (p.Leu136Ter) c.1427T>A (p.Leu476Ter) c.2432T>A (p.Leu811Ter) c.2612T>A (p.Leu871Ter) | |
20 | g.51788866A>C | CA409006445 | SALL4 | c.2737T>G (p.Leu913Val) c.406T>G (p.Leu136Val) c.1426T>G (p.Leu476Val) c.2431T>G (p.Leu811Val) c.2611T>G (p.Leu871Val) | |
20 | g.51788866A>G | CA511025674 | SALL4 | c.2737T>C (p.Leu913=) c.406T>C (p.Leu136=) c.1426T>C (p.Leu476=) c.2431T>C (p.Leu811=) c.2611T>C (p.Leu871=) | |
20 | g.51788866A>T | CA409006446 | SALL4 | c.2737T>A (p.Leu913Ile) c.406T>A (p.Leu136Ile) c.1426T>A (p.Leu476Ile) c.2431T>A (p.Leu811Ile) c.2611T>A (p.Leu871Ile) | |
20 | g.51788867G>A | CA511025675 | SALL4 | c.2736C>T (p.Asn912=) c.405C>T (p.Asn135=) c.1425C>T (p.Asn475=) c.2430C>T (p.Asn810=) c.2610C>T (p.Asn870=) | |
20 | g.51788867G>C | CA409006447 | SALL4 | c.2736C>G (p.Asn912Lys) c.405C>G (p.Asn135Lys) c.1425C>G (p.Asn475Lys) c.2430C>G (p.Asn810Lys) c.2610C>G (p.Asn870Lys) | |
20 | g.51788867G>T | CA409006448 | SALL4 | c.2736C>A (p.Asn912Lys) c.405C>A (p.Asn135Lys) c.1425C>A (p.Asn475Lys) c.2430C>A (p.Asn810Lys) c.2610C>A (p.Asn870Lys) | |
20 | g.51788868T>A | CA409006449 | SALL4 | c.2735A>T (p.Asn912Ile) c.404A>T (p.Asn135Ile) c.1424A>T (p.Asn475Ile) c.2429A>T (p.Asn810Ile) c.2609A>T (p.Asn870Ile) | |
20 | g.51788868T>C | CA409006450 | SALL4 | c.2735A>G (p.Asn912Ser) c.404A>G (p.Asn135Ser) c.1424A>G (p.Asn475Ser) c.2429A>G (p.Asn810Ser) c.2609A>G (p.Asn870Ser) | dbSNP |
20 | g.51788868T>G | CA409006451 | SALL4 | c.2735A>C (p.Asn912Thr) c.404A>C (p.Asn135Thr) c.1424A>C (p.Asn475Thr) c.2429A>C (p.Asn810Thr) c.2609A>C (p.Asn870Thr) | |
20 | g.51788868T= | CA2369157321 | SALL4 | c.2735A= (p.Asn912=) c.404A= (p.Asn135=) c.1424A= (p.Asn475=) c.2429A= (p.Asn810=) c.2609A= (p.Asn870=) | |
20 | g.51788869T>A | CA409006452 | SALL4 | c.2734A>T (p.Asn912Tyr) c.403A>T (p.Asn135Tyr) c.1423A>T (p.Asn475Tyr) c.2428A>T (p.Asn810Tyr) c.2608A>T (p.Asn870Tyr) | |
20 | g.51788869T>C | CA409006453 | SALL4 | c.2734A>G (p.Asn912Asp) c.403A>G (p.Asn135Asp) c.1423A>G (p.Asn475Asp) c.2428A>G (p.Asn810Asp) c.2608A>G (p.Asn870Asp) | |
20 | g.51788869T>G | CA409006454 | SALL4 | c.2734A>C (p.Asn912His) c.403A>C (p.Asn135His) c.1423A>C (p.Asn475His) c.2428A>C (p.Asn810His) c.2608A>C (p.Asn870His) | |
20 | g.51788870G>A | CA511025676 | SALL4 | c.2733C>T (p.Gly911=) c.402C>T (p.Gly134=) c.1422C>T (p.Gly474=) c.2427C>T (p.Gly809=) c.2607C>T (p.Gly869=) | |
20 | g.51788870G>C | CA511025677 | SALL4 | c.2733C>G (p.Gly911=) c.402C>G (p.Gly134=) c.1422C>G (p.Gly474=) c.2427C>G (p.Gly809=) c.2607C>G (p.Gly869=) | |
20 | g.51788870G>T | CA511025678 | SALL4 | c.2733C>A (p.Gly911=) c.402C>A (p.Gly134=) c.1422C>A (p.Gly474=) c.2427C>A (p.Gly809=) c.2607C>A (p.Gly869=) | |
20 | g.51788871C>A | CA409006456 | SALL4 | c.2732G>T (p.Gly911Val) c.401G>T (p.Gly134Val) c.1421G>T (p.Gly474Val) c.2426G>T (p.Gly809Val) c.2606G>T (p.Gly869Val) | |
20 | g.51788871C>G | CA409006457 | SALL4 | c.2732G>C (p.Gly911Ala) c.401G>C (p.Gly134Ala) c.1421G>C (p.Gly474Ala) c.2426G>C (p.Gly809Ala) c.2606G>C (p.Gly869Ala) | |
20 | g.51788871C>T | CA409006455 | SALL4 | c.2732G>A (p.Gly911Asp) c.401G>A (p.Gly134Asp) c.1421G>A (p.Gly474Asp) c.2426G>A (p.Gly809Asp) c.2606G>A (p.Gly869Asp) | |
20 | g.51788872C>A | CA409006459 | SALL4 | c.2731G>T (p.Gly911Cys) c.400G>T (p.Gly134Cys) c.1420G>T (p.Gly474Cys) c.2425G>T (p.Gly809Cys) c.2605G>T (p.Gly869Cys) | |
20 | g.51788872C>G | CA409006458 | SALL4 | c.2731G>C (p.Gly911Arg) c.400G>C (p.Gly134Arg) c.1420G>C (p.Gly474Arg) c.2425G>C (p.Gly809Arg) c.2605G>C (p.Gly869Arg) | gnomAD v4 |
20 | g.51788872C>T | CA409006460 | SALL4 | c.2731G>A (p.Gly911Ser) c.400G>A (p.Gly134Ser) c.1420G>A (p.Gly474Ser) c.2425G>A (p.Gly809Ser) c.2605G>A (p.Gly869Ser) | |
20 | g.51788873T>A | CA409006461 | SALL4 | c.2730A>T (p.Lys910Asn) c.399A>T (p.Lys133Asn) c.1419A>T (p.Lys473Asn) c.2424A>T (p.Lys808Asn) c.2604A>T (p.Lys868Asn) | |
20 | g.51788873T>C | CA511025682 | SALL4 | c.2730A>G (p.Lys910=) c.399A>G (p.Lys133=) c.1419A>G (p.Lys473=) c.2424A>G (p.Lys808=) c.2604A>G (p.Lys868=) | |
20 | g.51788873T>G | CA409006462 | SALL4 | c.2730A>C (p.Lys910Asn) c.399A>C (p.Lys133Asn) c.1419A>C (p.Lys473Asn) c.2424A>C (p.Lys808Asn) c.2604A>C (p.Lys868Asn) | |
20 | g.51788874T>A | CA409006463 | SALL4 | c.2729A>T (p.Lys910Ile) c.398A>T (p.Lys133Ile) c.1418A>T (p.Lys473Ile) c.2423A>T (p.Lys808Ile) c.2603A>T (p.Lys868Ile) | |
20 | g.51788874T>C | CA409006464 | SALL4 | c.2729A>G (p.Lys910Arg) c.398A>G (p.Lys133Arg) c.1418A>G (p.Lys473Arg) c.2423A>G (p.Lys808Arg) c.2603A>G (p.Lys868Arg) | |
20 | g.51788874T>G | CA409006465 | SALL4 | c.2729A>C (p.Lys910Thr) c.398A>C (p.Lys133Thr) c.1418A>C (p.Lys473Thr) c.2423A>C (p.Lys808Thr) c.2603A>C (p.Lys868Thr) | |
20 | g.51788875T>A | CA409006466 | SALL4 | c.2728A>T (p.Lys910Ter) c.397A>T (p.Lys133Ter) c.1417A>T (p.Lys473Ter) c.2422A>T (p.Lys808Ter) c.2602A>T (p.Lys868Ter) | |
20 | g.51788875T>C | CA409006467 | SALL4 | c.2728A>G (p.Lys910Glu) c.397A>G (p.Lys133Glu) c.1417A>G (p.Lys473Glu) c.2422A>G (p.Lys808Glu) c.2602A>G (p.Lys868Glu) | |
20 | g.51788875T>G | CA409006468 | SALL4 | c.2728A>C (p.Lys910Gln) c.397A>C (p.Lys133Gln) c.1417A>C (p.Lys473Gln) c.2422A>C (p.Lys808Gln) c.2602A>C (p.Lys868Gln) | |
20 | g.51788876G>A | CA9912029 | SALL4 | c.2727C>T (p.Thr909=) c.396C>T (p.Thr132=) c.1416C>T (p.Thr472=) c.2421C>T (p.Thr807=) c.2601C>T (p.Thr867=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788876G>C | CA511025686 | SALL4 | c.2727C>G (p.Thr909=) c.396C>G (p.Thr132=) c.1416C>G (p.Thr472=) c.2421C>G (p.Thr807=) c.2601C>G (p.Thr867=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788876G= | CA2369157322 | SALL4 | c.2727C= (p.Thr909=) c.396C= (p.Thr132=) c.1416C= (p.Thr472=) c.2421C= (p.Thr807=) c.2601C= (p.Thr867=) | |
20 | g.51788876G>T | CA511025687 | SALL4 | c.2727C>A (p.Thr909=) c.396C>A (p.Thr132=) c.1416C>A (p.Thr472=) c.2421C>A (p.Thr807=) c.2601C>A (p.Thr867=) | |
20 | g.51788877G>A | CA409006469 | SALL4 | c.2726C>T (p.Thr909Ile) c.395C>T (p.Thr132Ile) c.1415C>T (p.Thr472Ile) c.2420C>T (p.Thr807Ile) c.2600C>T (p.Thr867Ile) | |
20 | g.51788877G>C | CA409006470 | SALL4 | c.2726C>G (p.Thr909Ser) c.395C>G (p.Thr132Ser) c.1415C>G (p.Thr472Ser) c.2420C>G (p.Thr807Ser) c.2600C>G (p.Thr867Ser) | |
20 | g.51788877G>T | CA409006471 | SALL4 | c.2726C>A (p.Thr909Asn) c.395C>A (p.Thr132Asn) c.1415C>A (p.Thr472Asn) c.2420C>A (p.Thr807Asn) c.2600C>A (p.Thr867Asn) | |
20 | g.51788878T>A | CA409006474 | SALL4 | c.2725A>T (p.Thr909Ser) c.394A>T (p.Thr132Ser) c.1414A>T (p.Thr472Ser) c.2419A>T (p.Thr807Ser) c.2599A>T (p.Thr867Ser) | |
20 | g.51788878T>C | CA409006472 | SALL4 | c.2725A>G (p.Thr909Ala) c.394A>G (p.Thr132Ala) c.1414A>G (p.Thr472Ala) c.2419A>G (p.Thr807Ala) c.2599A>G (p.Thr867Ala) | gnomAD v4 |
20 | g.51788878T>G | CA409006473 | SALL4 | c.2725A>C (p.Thr909Pro) c.394A>C (p.Thr132Pro) c.1414A>C (p.Thr472Pro) c.2419A>C (p.Thr807Pro) c.2599A>C (p.Thr867Pro) | |
20 | g.51788879G>A | CA511025693 | SALL4 | c.2724C>T (p.Thr908=) c.393C>T (p.Thr131=) c.1413C>T (p.Thr471=) c.2418C>T (p.Thr806=) c.2598C>T (p.Thr866=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788879G>C | CA511025691 | SALL4 | c.2724C>G (p.Thr908=) c.393C>G (p.Thr131=) c.1413C>G (p.Thr471=) c.2418C>G (p.Thr806=) c.2598C>G (p.Thr866=) | |
20 | g.51788879G= | CA2369157323 | SALL4 | c.2724C= (p.Thr908=) c.393C= (p.Thr131=) c.1413C= (p.Thr471=) c.2418C= (p.Thr806=) c.2598C= (p.Thr866=) | |
20 | g.51788879G>T | CA511025692 | SALL4 | c.2724C>A (p.Thr908=) c.393C>A (p.Thr131=) c.1413C>A (p.Thr471=) c.2418C>A (p.Thr806=) c.2598C>A (p.Thr866=) | |
20 | g.51788880G>A | CA409006475 | SALL4 | c.2723C>T (p.Thr908Ile) c.392C>T (p.Thr131Ile) c.1412C>T (p.Thr471Ile) c.2417C>T (p.Thr806Ile) c.2597C>T (p.Thr866Ile) | dbSNP |
20 | g.51788880G>C | CA409006476 | SALL4 | c.2723C>G (p.Thr908Ser) c.392C>G (p.Thr131Ser) c.1412C>G (p.Thr471Ser) c.2417C>G (p.Thr806Ser) c.2597C>G (p.Thr866Ser) | |
20 | g.51788880G= | CA2369157324 | SALL4 | c.2723C= (p.Thr908=) c.392C= (p.Thr131=) c.1412C= (p.Thr471=) c.2417C= (p.Thr806=) c.2597C= (p.Thr866=) | |
20 | g.51788880G>T | CA409006477 | SALL4 | c.2723C>A (p.Thr908Asn) c.392C>A (p.Thr131Asn) c.1412C>A (p.Thr471Asn) c.2417C>A (p.Thr806Asn) c.2597C>A (p.Thr866Asn) | |
20 | g.51788881T>A | CA409006478 | SALL4 | c.2722A>T (p.Thr908Ser) c.391A>T (p.Thr131Ser) c.1411A>T (p.Thr471Ser) c.2416A>T (p.Thr806Ser) c.2596A>T (p.Thr866Ser) | |
20 | g.51788881T>C | CA409006479 | SALL4 | c.2722A>G (p.Thr908Ala) c.391A>G (p.Thr131Ala) c.1411A>G (p.Thr471Ala) c.2416A>G (p.Thr806Ala) c.2596A>G (p.Thr866Ala) | |
20 | g.51788881T>G | CA409006480 | SALL4 | c.2722A>C (p.Thr908Pro) c.391A>C (p.Thr131Pro) c.1411A>C (p.Thr471Pro) c.2416A>C (p.Thr806Pro) c.2596A>C (p.Thr866Pro) | |
20 | g.51788882A>C | CA409006481 | SALL4 | c.2721T>G (p.Phe907Leu) c.390T>G (p.Phe130Leu) c.1410T>G (p.Phe470Leu) c.2415T>G (p.Phe805Leu) c.2595T>G (p.Phe865Leu) | |
20 | g.51788882A>G | CA511025699 | SALL4 | c.2721T>C (p.Phe907=) c.390T>C (p.Phe130=) c.1410T>C (p.Phe470=) c.2415T>C (p.Phe805=) c.2595T>C (p.Phe865=) | |
20 | g.51788882A>T | CA409006482 | SALL4 | c.2721T>A (p.Phe907Leu) c.390T>A (p.Phe130Leu) c.1410T>A (p.Phe470Leu) c.2415T>A (p.Phe805Leu) c.2595T>A (p.Phe865Leu) | |
20 | g.51788883A>C | CA409006483 | SALL4 | c.2720T>G (p.Phe907Cys) c.389T>G (p.Phe130Cys) c.1409T>G (p.Phe470Cys) c.2414T>G (p.Phe805Cys) c.2594T>G (p.Phe865Cys) | |
20 | g.51788883A>G | CA409006484 | SALL4 | c.2720T>C (p.Phe907Ser) c.389T>C (p.Phe130Ser) c.1409T>C (p.Phe470Ser) c.2414T>C (p.Phe805Ser) c.2594T>C (p.Phe865Ser) | |
20 | g.51788883A>T | CA409006485 | SALL4 | c.2720T>A (p.Phe907Tyr) c.389T>A (p.Phe130Tyr) c.1409T>A (p.Phe470Tyr) c.2414T>A (p.Phe805Tyr) c.2594T>A (p.Phe865Tyr) | |
20 | g.51788884A>C | CA409006487 | SALL4 | c.2719T>G (p.Phe907Val) c.388T>G (p.Phe130Val) c.1408T>G (p.Phe470Val) c.2413T>G (p.Phe805Val) c.2593T>G (p.Phe865Val) | |
20 | g.51788884A>G | CA409006488 | SALL4 | c.2719T>C (p.Phe907Leu) c.388T>C (p.Phe130Leu) c.1408T>C (p.Phe470Leu) c.2413T>C (p.Phe805Leu) c.2593T>C (p.Phe865Leu) | |
20 | g.51788884A>T | CA409006486 | SALL4 | c.2719T>A (p.Phe907Ile) c.388T>A (p.Phe130Ile) c.1408T>A (p.Phe470Ile) c.2413T>A (p.Phe805Ile) c.2593T>A (p.Phe865Ile) | |
20 | g.51788885A>C | CA511025702 | SALL4 | c.2718T>G (p.Ala906=) c.387T>G (p.Ala129=) c.1407T>G (p.Ala469=) c.2412T>G (p.Ala804=) c.2592T>G (p.Ala864=) | |
20 | g.51788885A>G | CA511025703 | SALL4 | c.2718T>C (p.Ala906=) c.387T>C (p.Ala129=) c.1407T>C (p.Ala469=) c.2412T>C (p.Ala804=) c.2592T>C (p.Ala864=) | |
20 | g.51788885A>T | CA511025704 | SALL4 | c.2718T>A (p.Ala906=) c.387T>A (p.Ala129=) c.1407T>A (p.Ala469=) c.2412T>A (p.Ala804=) c.2592T>A (p.Ala864=) | |
20 | g.51788886G>A | CA409006489 | SALL4 | c.2717C>T (p.Ala906Val) c.386C>T (p.Ala129Val) c.1406C>T (p.Ala469Val) c.2411C>T (p.Ala804Val) c.2591C>T (p.Ala864Val) | |
20 | g.51788886G>C | CA409006490 | SALL4 | c.2717C>G (p.Ala906Gly) c.386C>G (p.Ala129Gly) c.1406C>G (p.Ala469Gly) c.2411C>G (p.Ala804Gly) c.2591C>G (p.Ala864Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51788886G= | CA2369157325 | SALL4 | c.2717C= (p.Ala906=) c.386C= (p.Ala129=) c.1406C= (p.Ala469=) c.2411C= (p.Ala804=) c.2591C= (p.Ala864=) | |
20 | g.51788886G>T | CA409006491 | SALL4 | c.2717C>A (p.Ala906Asp) c.386C>A (p.Ala129Asp) c.1406C>A (p.Ala469Asp) c.2411C>A (p.Ala804Asp) c.2591C>A (p.Ala864Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51788887C>A | CA409006492 | SALL4 | c.2716G>T (p.Ala906Ser) c.385G>T (p.Ala129Ser) c.1405G>T (p.Ala469Ser) c.2410G>T (p.Ala804Ser) c.2590G>T (p.Ala864Ser) | |
20 | g.51788887C>G | CA409006493 | SALL4 | c.2716G>C (p.Ala906Pro) c.385G>C (p.Ala129Pro) c.1405G>C (p.Ala469Pro) c.2410G>C (p.Ala804Pro) c.2590G>C (p.Ala864Pro) | |
20 | g.51788887C>T | CA409006494 | SALL4 | c.2716G>A (p.Ala906Thr) c.385G>A (p.Ala129Thr) c.1405G>A (p.Ala469Thr) c.2410G>A (p.Ala804Thr) c.2590G>A (p.Ala864Thr) | gnomAD v4 COSMIC |
20 | g.51788888T>A | CA511025709 | SALL4 | c.2715A>T (p.Arg905=) c.384A>T (p.Arg128=) c.1404A>T (p.Arg468=) c.2409A>T (p.Arg803=) c.2589A>T (p.Arg863=) | gnomAD v4 |
20 | g.51788888T>C | CA511025710 | SALL4 | c.2715A>G (p.Arg905=) c.384A>G (p.Arg128=) c.1404A>G (p.Arg468=) c.2409A>G (p.Arg803=) c.2589A>G (p.Arg863=) | |
20 | g.51788888T>G | CA511025711 | SALL4 | c.2715A>C (p.Arg905=) c.384A>C (p.Arg128=) c.1404A>C (p.Arg468=) c.2409A>C (p.Arg803=) c.2589A>C (p.Arg863=) | gnomAD v4 |
20 | g.51788889C>A | CA409006497 | SALL4 | c.2714G>T (p.Arg905Leu) c.383G>T (p.Arg128Leu) c.1403G>T (p.Arg468Leu) c.2408G>T (p.Arg803Leu) c.2588G>T (p.Arg863Leu) | |
20 | g.51788889C>G | CA409006495 | SALL4 | c.2714G>C (p.Arg905Pro) c.383G>C (p.Arg128Pro) c.1403G>C (p.Arg468Pro) c.2408G>C (p.Arg803Pro) c.2588G>C (p.Arg863Pro) | |
20 | g.51788889C>T | CA409006496 | SALL4 | c.2714G>A (p.Arg905Gln) c.383G>A (p.Arg128Gln) c.1403G>A (p.Arg468Gln) c.2408G>A (p.Arg803Gln) c.2588G>A (p.Arg863Gln) | |
20 | g.51788890G>A | CA340059 | SALL4 | c.2713C>T (p.Arg905Ter) c.382C>T (p.Arg128Ter) c.1402C>T (p.Arg468Ter) c.2407C>T (p.Arg803Ter) c.2587C>T (p.Arg863Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788890G>C | CA409006498 | SALL4 | c.2713C>G (p.Arg905Gly) c.382C>G (p.Arg128Gly) c.1402C>G (p.Arg468Gly) c.2407C>G (p.Arg803Gly) c.2587C>G (p.Arg863Gly) | |
20 | g.51788890G= | CA2369157326 | SALL4 | c.2713C= (p.Arg905=) c.382C= (p.Arg128=) c.1402C= (p.Arg468=) c.2407C= (p.Arg803=) c.2587C= (p.Arg863=) | |
20 | g.51788890G>T | CA511025713 | SALL4 | c.2713C>A (p.Arg905=) c.382C>A (p.Arg128=) c.1402C>A (p.Arg468=) c.2407C>A (p.Arg803=) c.2587C>A (p.Arg863=) | |
20 | g.51788891C>A | CA511025716 | SALL4 | c.2712G>T (p.Gly904=) c.381G>T (p.Gly127=) c.1401G>T (p.Gly467=) c.2406G>T (p.Gly802=) c.2586G>T (p.Gly862=) | |
20 | g.51788891C= | CA2369157327 | SALL4 | c.2712G= (p.Gly904=) c.381G= (p.Gly127=) c.1401G= (p.Gly467=) c.2406G= (p.Gly802=) c.2586G= (p.Gly862=) | |
20 | g.51788891C>G | CA511025718 | SALL4 | c.2712G>C (p.Gly904=) c.381G>C (p.Gly127=) c.1401G>C (p.Gly467=) c.2406G>C (p.Gly802=) c.2586G>C (p.Gly862=) | |
20 | g.51788891C>T | CA511025719 | SALL4 | c.2712G>A (p.Gly904=) c.381G>A (p.Gly127=) c.1401G>A (p.Gly467=) c.2406G>A (p.Gly802=) c.2586G>A (p.Gly862=) | dbSNP |
20 | g.51788892C>A | CA409006499 | SALL4 | c.2711G>T (p.Gly904Val) c.380G>T (p.Gly127Val) c.1400G>T (p.Gly467Val) c.2405G>T (p.Gly802Val) c.2585G>T (p.Gly862Val) | |
20 | g.51788892C= | CA2369157328 | SALL4 | c.2711G= (p.Gly904=) c.380G= (p.Gly127=) c.1400G= (p.Gly467=) c.2405G= (p.Gly802=) c.2585G= (p.Gly862=) | |
20 | g.51788892C>G | CA409006500 | SALL4 | c.2711G>C (p.Gly904Ala) c.380G>C (p.Gly127Ala) c.1400G>C (p.Gly467Ala) c.2405G>C (p.Gly802Ala) c.2585G>C (p.Gly862Ala) | |
20 | g.51788892C>T | CA9912030 | SALL4 | c.2711G>A (p.Gly904Glu) c.380G>A (p.Gly127Glu) c.1400G>A (p.Gly467Glu) c.2405G>A (p.Gly802Glu) c.2585G>A (p.Gly862Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.51788893C>A | CA409006501 | SALL4 | c.2710G>T (p.Gly904Trp) c.379G>T (p.Gly127Trp) c.1399G>T (p.Gly467Trp) c.2404G>T (p.Gly802Trp) c.2584G>T (p.Gly862Trp) | gnomAD v4 |
20 | g.51788893C= | CA2369157329 | SALL4 | c.2710G= (p.Gly904=) c.379G= (p.Gly127=) c.1399G= (p.Gly467=) c.2404G= (p.Gly802=) c.2584G= (p.Gly862=) | |
20 | g.51788893C>G | CA409006503 | SALL4 | c.2710G>C (p.Gly904Arg) c.379G>C (p.Gly127Arg) c.1399G>C (p.Gly467Arg) c.2404G>C (p.Gly802Arg) c.2584G>C (p.Gly862Arg) | |
20 | g.51788893C>T | CA409006502 | SALL4 | c.2710G>A (p.Gly904Arg) c.379G>A (p.Gly127Arg) c.1399G>A (p.Gly467Arg) c.2404G>A (p.Gly802Arg) c.2584G>A (p.Gly862Arg) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788894A>C | CA409006504 | SALL4 | c.2709T>G (p.Cys903Trp) c.378T>G (p.Cys126Trp) c.1398T>G (p.Cys466Trp) c.2403T>G (p.Cys801Trp) c.2583T>G (p.Cys861Trp) | |
20 | g.51788894A>G | CA511025726 | SALL4 | c.2709T>C (p.Cys903=) c.378T>C (p.Cys126=) c.1398T>C (p.Cys466=) c.2403T>C (p.Cys801=) c.2583T>C (p.Cys861=) | |
20 | g.51788894A>T | CA409006505 | SALL4 | c.2709T>A (p.Cys903Ter) c.378T>A (p.Cys126Ter) c.1398T>A (p.Cys466Ter) c.2403T>A (p.Cys801Ter) c.2583T>A (p.Cys861Ter) | |
20 | g.51788895C>A | CA409006506 | SALL4 | c.2708G>T (p.Cys903Phe) c.377G>T (p.Cys126Phe) c.1397G>T (p.Cys466Phe) c.2402G>T (p.Cys801Phe) c.2582G>T (p.Cys861Phe) | |
20 | g.51788895C>G | CA409006507 | SALL4 | c.2708G>C (p.Cys903Ser) c.377G>C (p.Cys126Ser) c.1397G>C (p.Cys466Ser) c.2402G>C (p.Cys801Ser) c.2582G>C (p.Cys861Ser) | |
20 | g.51788895C>T | CA409006508 | SALL4 | c.2708G>A (p.Cys903Tyr) c.377G>A (p.Cys126Tyr) c.1397G>A (p.Cys466Tyr) c.2402G>A (p.Cys801Tyr) c.2582G>A (p.Cys861Tyr) | gnomAD v4 |
20 | g.51788896A>C | CA409006509 | SALL4 | c.2707T>G (p.Cys903Gly) c.376T>G (p.Cys126Gly) c.1396T>G (p.Cys466Gly) c.2401T>G (p.Cys801Gly) c.2581T>G (p.Cys861Gly) | |
20 | g.51788896A>G | CA409006510 | SALL4 | c.2707T>C (p.Cys903Arg) c.376T>C (p.Cys126Arg) c.1396T>C (p.Cys466Arg) c.2401T>C (p.Cys801Arg) c.2581T>C (p.Cys861Arg) | |
20 | g.51788896A>T | CA409006511 | SALL4 | c.2707T>A (p.Cys903Ser) c.376T>A (p.Cys126Ser) c.1396T>A (p.Cys466Ser) c.2401T>A (p.Cys801Ser) c.2581T>A (p.Cys861Ser) | |
20 | g.51788897A>C | CA409006512 | SALL4 | c.2706T>G (p.Ile902Met) c.375T>G (p.Ile125Met) c.1395T>G (p.Ile465Met) c.2400T>G (p.Ile800Met) c.2580T>G (p.Ile860Met) | |
20 | g.51788897A>G | CA511025730 | SALL4 | c.2706T>C (p.Ile902=) c.375T>C (p.Ile125=) c.1395T>C (p.Ile465=) c.2400T>C (p.Ile800=) c.2580T>C (p.Ile860=) | |
20 | g.51788897A>T | CA511025733 | SALL4 | c.2706T>A (p.Ile902=) c.375T>A (p.Ile125=) c.1395T>A (p.Ile465=) c.2400T>A (p.Ile800=) c.2580T>A (p.Ile860=) | |
20 | g.51788898A= | CA2369157330 | SALL4 | c.2705T= (p.Ile902=) c.374T= (p.Ile125=) c.1394T= (p.Ile465=) c.2399T= (p.Ile800=) c.2579T= (p.Ile860=) | |
20 | g.51788898A>C | CA409006513 | SALL4 | c.2705T>G (p.Ile902Ser) c.374T>G (p.Ile125Ser) c.1394T>G (p.Ile465Ser) c.2399T>G (p.Ile800Ser) c.2579T>G (p.Ile860Ser) | gnomAD v4 |
20 | g.51788898A>G | CA409006514 | SALL4 | c.2705T>C (p.Ile902Thr) c.374T>C (p.Ile125Thr) c.1394T>C (p.Ile465Thr) c.2399T>C (p.Ile800Thr) c.2579T>C (p.Ile860Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.51788898A>T | CA409006515 | SALL4 | c.2705T>A (p.Ile902Asn) c.374T>A (p.Ile125Asn) c.1394T>A (p.Ile465Asn) c.2399T>A (p.Ile800Asn) c.2579T>A (p.Ile860Asn) | |
20 | g.51788899T>A | CA409006518 | SALL4 | c.2704A>T (p.Ile902Phe) c.373A>T (p.Ile125Phe) c.1393A>T (p.Ile465Phe) c.2398A>T (p.Ile800Phe) c.2578A>T (p.Ile860Phe) | |
20 | g.51788899T>C | CA409006517 | SALL4 | c.2704A>G (p.Ile902Val) c.373A>G (p.Ile125Val) c.1393A>G (p.Ile465Val) c.2398A>G (p.Ile800Val) c.2578A>G (p.Ile860Val) | ClinVar dbSNP |
20 | g.51788899T>G | CA409006516 | SALL4 | c.2704A>C (p.Ile902Leu) c.373A>C (p.Ile125Leu) c.1393A>C (p.Ile465Leu) c.2398A>C (p.Ile800Leu) c.2578A>C (p.Ile860Leu) | |
20 | g.51788900G>A | CA511025736 | SALL4 | c.2703C>T (p.Asn901=) c.372C>T (p.Asn124=) c.1392C>T (p.Asn464=) c.2397C>T (p.Asn799=) c.2577C>T (p.Asn859=) | gnomAD v4 |
20 | g.51788900G>C | CA409006520 | SALL4 | c.2703C>G (p.Asn901Lys) c.372C>G (p.Asn124Lys) c.1392C>G (p.Asn464Lys) c.2397C>G (p.Asn799Lys) c.2577C>G (p.Asn859Lys) | |
20 | g.51788900G>T | CA409006519 | SALL4 | c.2703C>A (p.Asn901Lys) c.372C>A (p.Asn124Lys) c.1392C>A (p.Asn464Lys) c.2397C>A (p.Asn799Lys) c.2577C>A (p.Asn859Lys) | gnomAD v4 |
20 | g.51788901T>A | CA409006523 | SALL4 | c.2702A>T (p.Asn901Ile) c.371A>T (p.Asn124Ile) c.1391A>T (p.Asn464Ile) c.2396A>T (p.Asn799Ile) c.2576A>T (p.Asn859Ile) | |
20 | g.51788901T>C | CA409006521 | SALL4 | c.2702A>G (p.Asn901Ser) c.371A>G (p.Asn124Ser) c.1391A>G (p.Asn464Ser) c.2396A>G (p.Asn799Ser) c.2576A>G (p.Asn859Ser) | |
20 | g.51788901T>G | CA409006522 | SALL4 | c.2702A>C (p.Asn901Thr) c.371A>C (p.Asn124Thr) c.1391A>C (p.Asn464Thr) c.2396A>C (p.Asn799Thr) c.2576A>C (p.Asn859Thr) | |
20 | g.51788902T>A | CA409006524 | SALL4 | c.2701A>T (p.Asn901Tyr) c.370A>T (p.Asn124Tyr) c.1390A>T (p.Asn464Tyr) c.2395A>T (p.Asn799Tyr) c.2575A>T (p.Asn859Tyr) | |
20 | g.51788902T>C | CA315370848 | SALL4 | c.2701A>G (p.Asn901Asp) c.370A>G (p.Asn124Asp) c.1390A>G (p.Asn464Asp) c.2395A>G (p.Asn799Asp) c.2575A>G (p.Asn859Asp) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.51788902T>G | CA409006525 | SALL4 | c.2701A>C (p.Asn901His) c.370A>C (p.Asn124His) c.1390A>C (p.Asn464His) c.2395A>C (p.Asn799His) c.2575A>C (p.Asn859His) | |
20 | g.51788902T= | CA2369157331 | SALL4 | c.2701A= (p.Asn901=) c.370A= (p.Asn124=) c.1390A= (p.Asn464=) c.2395A= (p.Asn799=) c.2575A= (p.Asn859=) | |
20 | g.51788903G>A | CA511025741 | SALL4 | c.2700C>T (p.Cys900=) c.369C>T (p.Cys123=) c.1389C>T (p.Cys463=) c.2394C>T (p.Cys798=) c.2574C>T (p.Cys858=) | |
20 | g.51788903G>C | CA409006526 | SALL4 | c.2700C>G (p.Cys900Trp) c.369C>G (p.Cys123Trp) c.1389C>G (p.Cys463Trp) c.2394C>G (p.Cys798Trp) c.2574C>G (p.Cys858Trp) | |
20 | g.51788903G>T | CA409006527 | SALL4 | c.2700C>A (p.Cys900Ter) c.369C>A (p.Cys123Ter) c.1389C>A (p.Cys463Ter) c.2394C>A (p.Cys798Ter) c.2574C>A (p.Cys858Ter) | |
20 | g.51788904C>A | CA409006528 | SALL4 | c.2699G>T (p.Cys900Phe) c.368G>T (p.Cys123Phe) c.1388G>T (p.Cys463Phe) c.2393G>T (p.Cys798Phe) c.2573G>T (p.Cys858Phe) | |
20 | g.51788904C>G | CA409006529 | SALL4 | c.2699G>C (p.Cys900Ser) c.368G>C (p.Cys123Ser) c.1388G>C (p.Cys463Ser) c.2393G>C (p.Cys798Ser) c.2573G>C (p.Cys858Ser) | |
20 | g.51788904C>T | CA409006530 | SALL4 | c.2699G>A (p.Cys900Tyr) c.368G>A (p.Cys123Tyr) c.1388G>A (p.Cys463Tyr) c.2393G>A (p.Cys798Tyr) c.2573G>A (p.Cys858Tyr) | |
20 | g.51788905A>C | CA409006531 | SALL4 | c.2698T>G (p.Cys900Gly) c.367T>G (p.Cys123Gly) c.1387T>G (p.Cys463Gly) c.2392T>G (p.Cys798Gly) c.2572T>G (p.Cys858Gly) | |
20 | g.51788905A>G | CA409006532 | SALL4 | c.2698T>C (p.Cys900Arg) c.367T>C (p.Cys123Arg) c.1387T>C (p.Cys463Arg) c.2392T>C (p.Cys798Arg) c.2572T>C (p.Cys858Arg) | |
20 | g.51788905A>T | CA409006533 | SALL4 | c.2698T>A (p.Cys900Ser) c.367T>A (p.Cys123Ser) c.1387T>A (p.Cys463Ser) c.2392T>A (p.Cys798Ser) c.2572T>A (p.Cys858Ser) | |
20 | g.51788905_51788906insAAACGAC | CA2816661789 | SALL4 | c.2697_2698insGTCGTTT (p.Cys900ValfsTer28) c.366_367insGTCGTTT (p.Cys123ValfsTer28) c.1386_1387insGTCGTTT (p.Cys463ValfsTer28) c.2391_2392insGTCGTTT (p.Cys798ValfsTer28) c.2571_2572insGTCGTTT (p.Cys858ValfsTer28) | |
20 | g.51788906C>A | CA511025747 | SALL4 | c.2697G>T (p.Val899=) c.366G>T (p.Val122=) c.1386G>T (p.Val462=) c.2391G>T (p.Val797=) c.2571G>T (p.Val857=) | |
20 | g.51788906C= | CA2369157332 | SALL4 | c.2697G= (p.Val899=) c.366G= (p.Val122=) c.1386G= (p.Val462=) c.2391G= (p.Val797=) c.2571G= (p.Val857=) | |
20 | g.51788906C>G | CA511025749 | SALL4 | c.2697G>C (p.Val899=) c.366G>C (p.Val122=) c.1386G>C (p.Val462=) c.2391G>C (p.Val797=) c.2571G>C (p.Val857=) | |
20 | g.51788906C>T | CA511025752 | SALL4 | c.2697G>A (p.Val899=) c.366G>A (p.Val122=) c.1386G>A (p.Val462=) c.2391G>A (p.Val797=) c.2571G>A (p.Val857=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788907A>C | CA409006536 | SALL4 | c.2696T>G (p.Val899Gly) c.365T>G (p.Val122Gly) c.1385T>G (p.Val462Gly) c.2390T>G (p.Val797Gly) c.2570T>G (p.Val857Gly) | |
20 | g.51788907A>G | CA409006534 | SALL4 | c.2696T>C (p.Val899Ala) c.365T>C (p.Val122Ala) c.1385T>C (p.Val462Ala) c.2390T>C (p.Val797Ala) c.2570T>C (p.Val857Ala) | gnomAD v4 |
20 | g.51788907A>T | CA409006535 | SALL4 | c.2696T>A (p.Val899Glu) c.365T>A (p.Val122Glu) c.1385T>A (p.Val462Glu) c.2390T>A (p.Val797Glu) c.2570T>A (p.Val857Glu) | |
20 | g.51788907_51788908insTTCCCTGATGCAGCTGACATCTAAATATAGAGAACAT | CA2816661790 | SALL4 | c.2695_2696insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val899AspfsTer6) c.364_365insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val122AspfsTer6) c.1384_1385insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val462AspfsTer6) c.2389_2390insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val797AspfsTer6) c.2569_2570insATGTTCTCTATATTTAGATGTCAGCTGCATCAGGGAA (p.Val857AspfsTer6) | |
20 | g.51788908C>A | CA409006537 | SALL4 | c.2695G>T (p.Val899Leu) c.364G>T (p.Val122Leu) c.1384G>T (p.Val462Leu) c.2389G>T (p.Val797Leu) c.2569G>T (p.Val857Leu) | |
20 | g.51788908C>G | CA409006538 | SALL4 | c.2695G>C (p.Val899Leu) c.364G>C (p.Val122Leu) c.1384G>C (p.Val462Leu) c.2389G>C (p.Val797Leu) c.2569G>C (p.Val857Leu) | |
20 | g.51788908C>T | CA409006539 | SALL4 | c.2695G>A (p.Val899Met) c.364G>A (p.Val122Met) c.1384G>A (p.Val462Met) c.2389G>A (p.Val797Met) c.2569G>A (p.Val857Met) | |
20 | g.51788909A= | CA2369157333 | SALL4 | c.2694T= (p.Phe898=) c.363T= (p.Phe121=) c.1383T= (p.Phe461=) c.2388T= (p.Phe796=) c.2568T= (p.Phe856=) | |
20 | g.51788909A>C | CA409006540 | SALL4 | c.2694T>G (p.Phe898Leu) c.363T>G (p.Phe121Leu) c.1383T>G (p.Phe461Leu) c.2388T>G (p.Phe796Leu) c.2568T>G (p.Phe856Leu) | |
20 | g.51788909A>G | CA511025757 | SALL4 | c.2694T>C (p.Phe898=) c.363T>C (p.Phe121=) c.1383T>C (p.Phe461=) c.2388T>C (p.Phe796=) c.2568T>C (p.Phe856=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.51788909A>T | CA409006541 | SALL4 | c.2694T>A (p.Phe898Leu) c.363T>A (p.Phe121Leu) c.1383T>A (p.Phe461Leu) c.2388T>A (p.Phe796Leu) c.2568T>A (p.Phe856Leu) | |
20 | g.51788910A>C | CA409006542 | SALL4 | c.2693T>G (p.Phe898Cys) c.362T>G (p.Phe121Cys) c.1382T>G (p.Phe461Cys) c.2387T>G (p.Phe796Cys) c.2567T>G (p.Phe856Cys) | |
20 | g.51788910A>G | CA409006543 | SALL4 | c.2693T>C (p.Phe898Ser) c.362T>C (p.Phe121Ser) c.1382T>C (p.Phe461Ser) c.2387T>C (p.Phe796Ser) c.2567T>C (p.Phe856Ser) | |
20 | g.51788910A>T | CA409006544 | SALL4 | c.2693T>A (p.Phe898Tyr) c.362T>A (p.Phe121Tyr) c.1382T>A (p.Phe461Tyr) c.2387T>A (p.Phe796Tyr) c.2567T>A (p.Phe856Tyr) | |
20 | g.51788911A>C | CA409006545 | SALL4 | c.2692T>G (p.Phe898Val) c.361T>G (p.Phe121Val) c.1381T>G (p.Phe461Val) c.2386T>G (p.Phe796Val) c.2566T>G (p.Phe856Val) | |
20 | g.51788911A>G | CA409006546 | SALL4 | c.2692T>C (p.Phe898Leu) c.361T>C (p.Phe121Leu) c.1381T>C (p.Phe461Leu) c.2386T>C (p.Phe796Leu) c.2566T>C (p.Phe856Leu) | |
20 | g.51788911A>T | CA409006547 | SALL4 | c.2692T>A (p.Phe898Ile) c.361T>A (p.Phe121Ile) c.1381T>A (p.Phe461Ile) c.2386T>A (p.Phe796Ile) c.2566T>A (p.Phe856Ile) | |
20 | g.51788912A>C | CA511025765 | SALL4 | c.2691T>G (p.Pro897=) c.360T>G (p.Pro120=) c.1380T>G (p.Pro460=) c.2385T>G (p.Pro795=) c.2565T>G (p.Pro855=) | |
20 | g.51788912A>G | CA511025768 | SALL4 | c.2691T>C (p.Pro897=) c.360T>C (p.Pro120=) c.1380T>C (p.Pro460=) c.2385T>C (p.Pro795=) c.2565T>C (p.Pro855=) | |
20 | g.51788912A>T | CA511025767 | SALL4 | c.2691T>A (p.Pro897=) c.360T>A (p.Pro120=) c.1380T>A (p.Pro460=) c.2385T>A (p.Pro795=) c.2565T>A (p.Pro855=) | |
20 | g.51788913G>A | CA409006550 | SALL4 | c.2690C>T (p.Pro897Leu) c.359C>T (p.Pro120Leu) c.1379C>T (p.Pro460Leu) c.2384C>T (p.Pro795Leu) c.2564C>T (p.Pro855Leu) | |
20 | g.51788913G>C | CA409006549 | SALL4 | c.2690C>G (p.Pro897Arg) c.359C>G (p.Pro120Arg) c.1379C>G (p.Pro460Arg) c.2384C>G (p.Pro795Arg) c.2564C>G (p.Pro855Arg) | |
20 | g.51788913G>T | CA409006548 | SALL4 | c.2690C>A (p.Pro897His) c.359C>A (p.Pro120His) c.1379C>A (p.Pro460His) c.2384C>A (p.Pro795His) c.2564C>A (p.Pro855His) | |
20 | g.51788914G>A | CA409006551 | SALL4 | c.2689C>T (p.Pro897Ser) c.358C>T (p.Pro120Ser) c.1378C>T (p.Pro460Ser) c.2383C>T (p.Pro795Ser) c.2563C>T (p.Pro855Ser) | |
20 | g.51788914G>C | CA409006552 | SALL4 | c.2689C>G (p.Pro897Ala) c.358C>G (p.Pro120Ala) c.1378C>G (p.Pro460Ala) c.2383C>G (p.Pro795Ala) c.2563C>G (p.Pro855Ala) | |
20 | g.51788914G>T | CA409006553 | SALL4 | c.2689C>A (p.Pro897Thr) c.358C>A (p.Pro120Thr) c.1378C>A (p.Pro460Thr) c.2383C>A (p.Pro795Thr) c.2563C>A (p.Pro855Thr) | |
20 | g.51788915C>A | CA409006554 | SALL4 | c.2688G>T (p.Lys896Asn) c.357G>T (p.Lys119Asn) c.1377G>T (p.Lys459Asn) c.2382G>T (p.Lys794Asn) c.2562G>T (p.Lys854Asn) | |
20 | g.51788915C>G | CA409006555 | SALL4 | c.2688G>C (p.Lys896Asn) c.357G>C (p.Lys119Asn) c.1377G>C (p.Lys459Asn) c.2382G>C (p.Lys794Asn) c.2562G>C (p.Lys854Asn) | |
20 | g.51788915C>T | CA511025773 | SALL4 | c.2688G>A (p.Lys896=) c.357G>A (p.Lys119=) c.1377G>A (p.Lys459=) c.2382G>A (p.Lys794=) c.2562G>A (p.Lys854=) | gnomAD v4 |
20 | g.51788916T>A | CA409006556 | SALL4 | c.2687A>T (p.Lys896Met) c.356A>T (p.Lys119Met) c.1376A>T (p.Lys459Met) c.2381A>T (p.Lys794Met) c.2561A>T (p.Lys854Met) | |
20 | g.51788916T>C | CA409006557 | SALL4 | c.2687A>G (p.Lys896Arg) c.356A>G (p.Lys119Arg) c.1376A>G (p.Lys459Arg) c.2381A>G (p.Lys794Arg) c.2561A>G (p.Lys854Arg) | |
20 | g.51788916T>G | CA409006558 | SALL4 | c.2687A>C (p.Lys896Thr) c.356A>C (p.Lys119Thr) c.1376A>C (p.Lys459Thr) c.2381A>C (p.Lys794Thr) c.2561A>C (p.Lys854Thr) | |
20 | g.51788917T>A | CA409006559 | SALL4 | c.2686A>T (p.Lys896Ter) c.355A>T (p.Lys119Ter) c.1375A>T (p.Lys459Ter) c.2380A>T (p.Lys794Ter) c.2560A>T (p.Lys854Ter) | |
20 | g.51788917T>C | CA409006560 | SALL4 | c.2686A>G (p.Lys896Glu) c.355A>G (p.Lys119Glu) c.1375A>G (p.Lys459Glu) c.2380A>G (p.Lys794Glu) c.2560A>G (p.Lys854Glu) | dbSNP |
20 | g.51788917T>G | CA409006561 | SALL4 | c.2686A>C (p.Lys896Gln) c.355A>C (p.Lys119Gln) c.1375A>C (p.Lys459Gln) c.2380A>C (p.Lys794Gln) c.2560A>C (p.Lys854Gln) | |
20 | g.51788917T= | CA2369157334 | SALL4 | c.2686A= (p.Lys896=) c.355A= (p.Lys119=) c.1375A= (p.Lys459=) c.2380A= (p.Lys794=) c.2560A= (p.Lys854=) | |
20 | g.51788918C>A | CA409006562 | SALL4 | c.2685G>T (p.Glu895Asp) c.354G>T (p.Glu118Asp) c.1374G>T (p.Glu458Asp) c.2379G>T (p.Glu793Asp) c.2559G>T (p.Glu853Asp) | |
20 | g.51788918C>G | CA409006563 | SALL4 | c.2685G>C (p.Glu895Asp) c.354G>C (p.Glu118Asp) c.1374G>C (p.Glu458Asp) c.2379G>C (p.Glu793Asp) c.2559G>C (p.Glu853Asp) | |
20 | g.51788918C>T | CA511025777 | SALL4 | c.2685G>A (p.Glu895=) c.354G>A (p.Glu118=) c.1374G>A (p.Glu458=) c.2379G>A (p.Glu793=) c.2559G>A (p.Glu853=) | |
20 | g.51788919T>A | CA409006567 | SALL4 | c.2684A>T (p.Glu895Val) c.353A>T (p.Glu118Val) c.1373A>T (p.Glu458Val) c.2378A>T (p.Glu793Val) c.2558A>T (p.Glu853Val) | |
20 | g.51788919T>C | CA409006564 | SALL4 | c.2684A>G (p.Glu895Gly) c.353A>G (p.Glu118Gly) c.1373A>G (p.Glu458Gly) c.2378A>G (p.Glu793Gly) c.2558A>G (p.Glu853Gly) | |
20 | g.51788919T>G | CA409006565 | SALL4 | c.2684A>C (p.Glu895Ala) c.353A>C (p.Glu118Ala) c.1373A>C (p.Glu458Ala) c.2378A>C (p.Glu793Ala) c.2558A>C (p.Glu853Ala) |