NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=)
|
rs41311123
|
0.00859
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=)
|
rs201683984
|
0.00236
|
NM_000371.4(TTR):c.360C>T (p.Ser120=)
|
rs150127220
|
0.00128
|
NM_000371.4(TTR):c.417G>A (p.Thr139=)
|
rs2276382
|
0.00104
|
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)
|
rs1800131
|
0.00101
|
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)
|
rs144206959
|
0.00097
|
NM_001065.4(TNFRSF1A):c.789T>C (p.Thr263=)
|
rs201290189
|
0.00069
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=)
|
rs147075345
|
0.00020
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser)
|
rs202157633
|
0.00014
|
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=)
|
rs375752426
|
0.00011
|
NM_000335.5(SCN5A):c.3388-7T>C
|
rs41310769
|
0.00009
|
NM_000518.5(HBB):c.316-179A>C
|
rs185607297
|
0.00009
|
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=)
|
rs146904189
|
0.00006
|
NM_000335.5(SCN5A):c.1281C>T (p.Thr427=)
|
rs375989197
|
0.00004
|
NM_000435.3(NOTCH3):c.825G>A (p.Val275=)
|
rs138837495
|
0.00004
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
NM_000431.4(MVK):c.700C>T (p.Leu234=)
|
rs199909816
|
0.00003
|
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=)
|
rs587781162
|
0.00002
|
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=)
|
rs544057915
|
0.00002
|
NM_000518.5(HBB):c.93-40C>T
|
rs556727592
|
0.00002
|
NM_000243.3(MEFV):c.540G>C (p.Pro180=)
|
rs104895139
|
0.00001
|
NM_000335.5(SCN5A):c.5772C>G (p.Ser1924=)
|
rs199687668
|
0.00001
|
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=)
|
rs538707712
|
0.00001
|
NM_000431.4(MVK):c.945G>A (p.Leu315=)
|
rs752469036
|
0.00001
|
NM_000492.4(CFTR):c.1845A>G (p.Lys615=)
|
rs1792032957
|
0.00001
|
NM_000335.5(SCN5A):c.4296+9C>A
|
rs572950088
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=)
|
rs146904189
|
|
NM_000435.3(NOTCH3):c.579A>C (p.Leu193=)
|
|
|
NM_000435.3(NOTCH3):c.849C>T (p.Asn283=)
|
|
|
NM_000518.4(HBB):c.-92C>G
|
rs397515291
|
|
NM_000518.5(HBB):c.33C>A (p.Ala11=)
|
rs35799536
|
|
NM_000518.5(HBB):c.4G>A (p.Val2Met)
|
rs33958358
|
|
NM_001065.4(TNFRSF1A):c.714G>A (p.Arg238=)
|
rs200376188
|
|