|
NM_005215.4(DCC):c.67T>C (p.Phe23Leu)
|
rs9951523
|
0.98554
|
|
NM_005215.4(DCC):c.601C>G (p.Arg201Gly)
|
rs2229080
|
0.45169
|
|
NM_005215.4(DCC):c.3130+10A>G
|
rs11873515
|
0.43448
|
|
NM_005215.4(DCC):c.3108T>C (p.Pro1036=)
|
rs2229082
|
0.43424
|
|
NM_005215.4(DCC):c.2053+13A>G
|
rs1431196
|
0.30394
|
|
NM_005215.4(DCC):c.354G>A (p.Glu118=)
|
rs13381333
|
0.09851
|
|
NM_005215.4(DCC):c.1409G>A (p.Gly470Asp)
|
rs141813053
|
0.00296
|
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
0.00284
|
|
NM_005215.4(DCC):c.2000G>A (p.Arg667His)
|
rs200099519
|
0.00013
|
|
NM_005215.4(DCC):c.527A>G (p.Asn176Ser)
|
rs138724679
|
0.00011
|
|
NM_005215.4(DCC):c.2624C>T (p.Thr875Met)
|
rs747051148
|
0.00003
|
|
GRCh38/hg38 18q21.2(chr18:53157259-53340005)x1
|
|
|
|
NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)
|
|
|
|
NM_005215.4(DCC):c.1140+1G>A
|
rs797044553
|
|
|
NM_005215.4(DCC):c.1154T>A (p.Leu385Ter)
|
|
|
|
NM_005215.4(DCC):c.1256del (p.Lys419fs)
|
|
|
|
NM_005215.4(DCC):c.1336_1337insAGCC (p.Arg446fs)
|
rs797044554
|
|
|
NM_005215.4(DCC):c.2034_2038del (p.Asn678fs)
|
|
|
|
NM_005215.4(DCC):c.2216_2217dup (p.Cys740fs)
|
|
|
|
NM_005215.4(DCC):c.2220CAT[2] (p.Ile742del)
|
|
|
|
NM_005215.4(DCC):c.2227A>T (p.Met743Leu)
|
rs199651452
|
|
|
NM_005215.4(DCC):c.2266C>T (p.Arg756Ter)
|
rs764481922
|
|
|
NM_005215.4(DCC):c.2280_2286del (p.Ile760fs)
|
|
|
|
NM_005215.4(DCC):c.2304C>G (p.Tyr768Ter)
|
|
|
|
NM_005215.4(DCC):c.2316_2317delinsAA (p.Arg773Ser)
|
rs2057635830
|
|
|
NM_005215.4(DCC):c.2377_2381del (p.Val793fs)
|
|
|
|
NM_005215.4(DCC):c.2378T>G (p.Val793Gly)
|
rs1057519054
|
|
|
NM_005215.4(DCC):c.2407G>A (p.Gly803Arg)
|
rs797044550
|
|
|
NM_005215.4(DCC):c.2414G>A (p.Gly805Glu)
|
rs1057519055
|
|
|
NM_005215.4(DCC):c.2551C>T (p.Gln851Ter)
|
|
|
|
NM_005215.4(DCC):c.2774dup (p.Asn925fs)
|
rs2145024323
|
|
|
NM_005215.4(DCC):c.2873_2877dup (p.Pro960fs)
|
rs797044555
|
|
|
NM_005215.4(DCC):c.3073C>T (p.Arg1025Ter)
|
rs1909920586
|
|
|
NM_005215.4(DCC):c.3577C>T (p.Gln1193Ter)
|
|
|
|
NM_005215.4(DCC):c.3778C>T (p.Gln1260Ter)
|
|
|
|
NM_005215.4(DCC):c.377C>A (p.Ser126Ter)
|
rs797044551
|
|
|
NM_005215.4(DCC):c.3836_3837del (p.Leu1279fs)
|
rs797044556
|
|
|
NM_005215.4(DCC):c.571dup (p.Val191fs)
|
rs797044552
|
|
|
NM_005215.4(DCC):c.823C>T (p.Arg275Ter)
|
rs754914260
|
|
|
NM_005215.4(DCC):c.925del (p.Thr309fs)
|
rs1057519053
|
|
|
Single allele
|
|
|