NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
NM_001927.4(DES):c.1055T>C (p.Leu352Ser)
|
rs775085773
|
0.00001
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001927.4(DES):c.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.83C>T (p.Ser28Phe)
|
rs1954361986
|
0.00001
|
NM_001927.4(DES):c.854C>T (p.Ala285Val)
|
rs1368507241
|
0.00001
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
NC_000002.11:g.(?_220284797)_(220284897_?)dup
|
|
|
NM_001927.4(DES):c.1013T>C (p.Leu338Pro)
|
rs57496341
|
|
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup)
|
rs1954437523
|
|
NM_001927.4(DES):c.1064G>C (p.Arg355Pro)
|
rs61368398
|
|
NM_001927.4(DES):c.1130T>C (p.Leu377Pro)
|
rs1432061016
|
|
NM_001927.4(DES):c.1151A>G (p.His384Arg)
|
rs1553603566
|
|
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr)
|
rs61130669
|
|
NM_001927.4(DES):c.1201G>A (p.Glu401Lys)
|
rs57694264
|
|
NM_001927.4(DES):c.1202A>G (p.Glu401Gly)
|
rs1954444202
|
|
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
|
|
|
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser)
|
rs2125168913
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)
|
|
|
NM_001927.4(DES):c.1237G>A (p.Glu413Lys)
|
rs61726467
|
|
NM_001927.4(DES):c.1244+1G>A
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_001927.4(DES):c.1366G>A (p.Gly456Arg)
|
rs397516690
|
|
NM_001927.4(DES):c.1A>G (p.Met1Val)
|
rs1057523274
|
|
NM_001927.4(DES):c.2T>C (p.Met1Thr)
|
rs2125165615
|
|
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
|
rs267607499
|
|
NM_001927.4(DES):c.347A>T (p.Asn116Ile)
|
rs267607499
|
|
NM_001927.4(DES):c.35C>T (p.Ser12Phe)
|
rs267607495
|
|
NM_001927.4(DES):c.365A>G (p.Tyr122Cys)
|
rs1400593451
|
|
NM_001927.4(DES):c.376G>A (p.Val126Met)
|
rs876657770
|
|
NM_001927.4(DES):c.380G>C (p.Arg127Pro)
|
rs397516694
|
|
NM_001927.4(DES):c.407T>C (p.Leu136Pro)
|
rs397516695
|
|
NM_001927.4(DES):c.579-2A>C
|
|
|
NM_001927.4(DES):c.732_735+3del
|
|
|
NM_001927.4(DES):c.735+1G>A
|
rs397516698
|
|
NM_001927.4(DES):c.735+1G>C
|
rs397516698
|
|
NM_001927.4(DES):c.735+2T>G
|
|
|
NM_001927.4(DES):c.735G>C (p.Glu245Asp)
|
rs267607486
|
|
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
|
|
|
NM_001927.4(DES):c.948_952del (p.Lys318fs)
|
rs2125168194
|
|
NM_001927.4(DES):c.976C>T (p.His326Tyr)
|
rs794728987
|
|
NM_001927.4(DES):c.977A>G (p.His326Arg)
|
rs2125168243
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|