NM_004999.4(MYO6):c.*2535_*2538dup
|
rs149527616
|
0.00304
|
NM_002473.5(MYH9):c.-182G>T
|
rs868824019
|
0.00179
|
NM_006005.3(WFS1):c.*366_*369del
|
rs71537671
|
0.00032
|
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu)
|
rs139867659
|
0.00019
|
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)
|
rs151319255
|
0.00019
|
NM_001145809.2(MYH14):c.3819C>T (p.Ala1273=)
|
rs750779364
|
0.00012
|
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln)
|
rs150494393
|
0.00011
|
NM_024009.3(GJB3):c.*75del
|
rs1057515478
|
0.00006
|
NM_001145809.2(MYH14):c.543C>T (p.Ala181=)
|
rs746669662
|
0.00004
|
NM_000260.4(MYO7A):c.-160G>A
|
rs576789908
|
0.00003
|
NM_002473.6(MYH9):c.2226C>T (p.Leu742=)
|
rs762499584
|
0.00003
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
NM_006005.3(WFS1):c.1290G>A (p.Ser430=)
|
rs752100338
|
0.00002
|
NM_001145809.2(MYH14):c.5C>T (p.Ala2Val)
|
rs750407725
|
0.00001
|
NM_002700.3(POU4F3):c.798A>G (p.Pro266=)
|
rs572492254
|
0.00001
|
NM_004999.3(MYO6):c.-261G>A
|
rs886061758
|
0.00001
|
NM_005379.4(MYO1A):c.522C>T (p.Leu174=)
|
rs561295735
|
0.00001
|
NM_005422.4(TECTA):c.1049G>A (p.Arg350Gln)
|
rs137951168
|
0.00001
|
NM_005422.4(TECTA):c.1285G>A (p.Val429Met)
|
rs544916783
|
0.00001
|
NM_000260.4(MYO7A):c.2759G>A (p.Arg920Gln)
|
rs565162134
|
|
NM_001145809.2(MYH14):c.*382TC[12]
|
rs376379600
|
|
NM_001145809.2(MYH14):c.*382TC[9]
|
rs376379600
|
|
NM_001145809.2(MYH14):c.3207C>G (p.Phe1069Leu)
|
rs886054593
|
|
NM_002473.6(MYH9):c.*198dup
|
rs886057475
|
|
NM_002473.6(MYH9):c.2632-8_2632-6del
|
rs773975934
|
|
NM_002473.6(MYH9):c.519-10del
|
rs754795681
|
|
NM_004004.6(GJB2):c.*1291_*1294del
|
rs886050025
|
|
NM_004086.2(COCH):c.-66C>T
|
rs886050442
|
|
NM_004100.5(EYA4):c.*1142del
|
rs886061091
|
|
NM_004100.5(EYA4):c.*2479del
|
rs886061095
|
|
NM_004100.5(EYA4):c.*737dup
|
rs749389761
|
|
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del)
|
rs727504461
|
|
NM_004817.4(TJP2):c.1671+18_1671+19del
|
rs1057515615
|
|
NM_004817.4(TJP2):c.2275+24del
|
rs749189119
|
|
NM_004817.4(TJP2):c.3408-6dup
|
rs778863371
|
|
NM_004999.4(MYO6):c.*1441TAAAT[1]
|
rs886061769
|
|
NM_004999.4(MYO6):c.*2029del
|
rs886061771
|
|
NM_004999.4(MYO6):c.*2881_*2882del
|
rs397812617
|
|
NM_004999.4(MYO6):c.*3473del
|
rs886061777
|
|
NM_005379.4(MYO1A):c.-194_-192del
|
rs886049698
|
|
NM_005379.4(MYO1A):c.932AAG[1] (p.Glu312del)
|
rs747939115
|
|
NM_005422.4(TECTA):c.1694G>A (p.Cys565Tyr)
|
rs886047838
|
|
NM_005422.4(TECTA):c.3762G>A (p.Met1254Ile)
|
rs886047842
|
|
NM_005982.4(SIX1):c.*1268AT[1]
|
rs3832952
|
|
NM_005982.4(SIX1):c.*1571T>C
|
rs886050567
|
|
NM_005982.4(SIX1):c.*268CAAA[2]
|
rs886050570
|
|
NM_005982.4(SIX1):c.*765_*766del
|
rs33943216
|
|
NM_006005.3(WFS1):c.*356_*357insTT
|
rs568320906
|
|
NM_006005.3(WFS1):c.*357CTTT[2]
|
rs373643818
|
|
NM_006005.3(WFS1):c.*365_*369del
|
rs886059535
|
|
NM_006005.3(WFS1):c.*683delinsTGGCTGTGGGGGA
|
rs886059540
|
|
NM_006005.3(WFS1):c.*724_*727del
|
rs71537674
|
|
NM_024009.3(GJB3):c.*120C>T
|
rs1057515479
|
|
NM_024009.3(GJB3):c.*532del
|
rs935438706
|
|
NM_138691.3(TMC1):c.2261-15_2261-14del
|
rs777589679
|
|
NM_139319.3(SLC17A8):c.*1496_*1497insT
|
rs886048798
|
|
NM_139319.3(SLC17A8):c.*1498_*1499insTT
|
rs886048799
|
|
NM_139319.3(SLC17A8):c.*1498dup
|
rs886048799
|
|
NM_139319.3(SLC17A8):c.*1501_*1502insGT
|
rs11418303
|
|
NM_139319.3(SLC17A8):c.*1513_*1521del
|
rs59689031
|
|
NM_139319.3(SLC17A8):c.*1520_*1521dup
|
rs59689031
|
|
NM_139319.3(SLC17A8):c.*1521dup
|
rs59689031
|
|
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del)
|
rs141689561
|
|