NC_000018.10:g.(?_31519793)_(31519947_?)del


NM_001943.4(DSG2):c.1015delG (p.Glu339Lysfs)

rs794728094

NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)

rs191564916

NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer)

rs745457570

NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter)

rs1555627108

NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)

rs758537946

NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)

rs775256998

NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)


NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)


NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys)

rs576404380

NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)

rs121913008

NM_001943.5(DSG2):c.1423+1G>T


NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)

rs762526848

NM_001943.5(DSG2):c.146G>A (p.Arg49His)

rs121913006

NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala)

rs193298428

NM_001943.5(DSG2):c.152G>C (p.Trp51Ser)

rs397516702

NM_001943.5(DSG2):c.16521G>A

rs1382430464

NM_001943.5(DSG2):c.1826dup (p.Leu610fs)

rs1039633976

NM_001943.5(DSG2):c.18802A>G

rs397514038

NM_001943.5(DSG2):c.1938del (p.Ile647fs)


NM_001943.5(DSG2):c.216+1G>T


NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)

rs371146201

NM_001943.5(DSG2):c.2315T>G (p.Leu772Ter)

rs794728097

NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)

rs1064793983

NM_001943.5(DSG2):c.2358del (p.Asp787fs)

rs1064793103

NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)

rs121913010

NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)

rs121913010

NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer)

rs1375081885

NM_001943.5(DSG2):c.2551del (p.Ile851fs)

rs763907170

NM_001943.5(DSG2):c.2595dup (p.Ala866fs)

rs1598826658

NM_001943.5(DSG2):c.2817del (p.Tyr940fs)

rs1567934773

NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer)

rs794728084

NM_001943.5(DSG2):c.2955del (p.Val986fs)

rs1064794709

NM_001943.5(DSG2):c.2979G>T (p.Gln993His)


NM_001943.5(DSG2):c.3036_3037insG (p.Tyr1013fs)


NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)

rs539821357

NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)

rs397516706

NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)

rs397516706

NM_001943.5(DSG2):c.307_308del (p.Val103fs)

rs1555671201

NM_001943.5(DSG2):c.3791G>A


NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)

rs373542380

NM_001943.5(DSG2):c.3G>A (p.Met1Ile)

rs1021457619

NM_001943.5(DSG2):c.45+1G>A

rs1568098570

NM_001943.5(DSG2):c.45+1G>C


NM_001943.5(DSG2):c.512_516del (p.Leu171fs)

rs1568105371

NM_001943.5(DSG2):c.523+1G>A

rs553299589

NM_001943.5(DSG2):c.523+1_523+2del

rs1598810829

NM_001943.5(DSG2):c.523+2T>C

rs397516709

NM_001943.5(DSG2):c.618_625del (p.Tyr207fs)

rs1598811348

NM_001943.5(DSG2):c.667del (p.Thr223fs)

rs1555671335

NM_001943.5(DSG2):c.690+1G>A

rs750176752

NM_001943.5(DSG2):c.6911G>A

rs1555671441

NM_001943.5(DSG2):c.792T>A (p.Asp264Glu)

rs869025388

NM_001943.5(DSG2):c.803_810dup (p.Val271fs)


NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs)

rs794728100

NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)

rs770921270

NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)

rs185821167

NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)

rs752432726

NM_001943.5(DSG2):c.882dup (p.Val295fs)

rs1187924885

NM_001943.5(DSG2):c.91del (p.Thr31fs)

rs758282201

NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)

rs397516712
