NM_004646.4(NPHS1):c.559G>A (p.Val187Met)
|
rs199646884
|
0.00016
|
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe)
|
rs570069789
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_004646.4(NPHS1):c.794G>C (p.Cys265Ser)
|
rs748287435
|
0.00003
|
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly)
|
rs755254230
|
0.00002
|
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr)
|
rs386833933
|
0.00002
|
NM_004646.4(NPHS1):c.1103C>T (p.Pro368Leu)
|
rs386833867
|
0.00001
|
NM_004646.4(NPHS1):c.3109+2T>G
|
rs765534006
|
0.00001
|
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
NM_004646.4(NPHS1):c.3287-2A>C
|
rs758432802
|
0.00001
|
NM_004646.4(NPHS1):c.527-1G>A
|
rs771143648
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NC_000019.9:g.(?_36330129)_(36330519_?)del
|
|
|
NM_004646.4(NPHS1):c.1012+2T>A
|
|
|
NM_004646.4(NPHS1):c.1049C>A (p.Ser350Tyr)
|
rs570069789
|
|
NM_004646.4(NPHS1):c.1097G>A (p.Ser366Asn)
|
rs2146827117
|
|
NM_004646.4(NPHS1):c.1102C>T (p.Pro368Ser)
|
rs386833866
|
|
NM_004646.4(NPHS1):c.1316-1G>C
|
rs1973171785
|
|
NM_004646.4(NPHS1):c.1441-1G>T
|
rs2146824388
|
|
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
|
|
|
NM_004646.4(NPHS1):c.1592G>T (p.Gly531Val)
|
rs1281962144
|
|
NM_004646.4(NPHS1):c.1867T>C (p.Cys623Arg)
|
rs2146823273
|
|
NM_004646.4(NPHS1):c.2071+1G>T
|
rs2146822164
|
|
NM_004646.4(NPHS1):c.2071+2del
|
rs2146822162
|
|
NM_004646.4(NPHS1):c.2072-6C>G
|
rs200253809
|
|
NM_004646.4(NPHS1):c.2083C>T (p.Arg695Trp)
|
rs2146822039
|
|
NM_004646.4(NPHS1):c.2132G>C (p.Arg711Pro)
|
rs926025297
|
|
NM_004646.4(NPHS1):c.2387G>A (p.Gly796Glu)
|
rs2146819844
|
|
NM_004646.4(NPHS1):c.2416G>A (p.Ala806Thr)
|
rs2146819794
|
|
NM_004646.4(NPHS1):c.2506+1G>A
|
rs1973073001
|
|
NM_004646.4(NPHS1):c.2507-2A>G
|
rs2146819530
|
|
NM_004646.4(NPHS1):c.2663_2663+9del
|
rs771953692
|
|
NM_004646.4(NPHS1):c.275-1G>C
|
rs144118716
|
|
NM_004646.4(NPHS1):c.2815+1G>C
|
rs2146818902
|
|
NM_004646.4(NPHS1):c.2816-2A>G
|
|
|
NM_004646.4(NPHS1):c.286C>G (p.Leu96Val)
|
rs386833929
|
|
NM_004646.4(NPHS1):c.287T>A (p.Leu96Gln)
|
|
|
NM_004646.4(NPHS1):c.2927+1G>A
|
rs386833930
|
|
NM_004646.4(NPHS1):c.2927+1G>C
|
|
|
NM_004646.4(NPHS1):c.2927+1G>T
|
|
|
NM_004646.4(NPHS1):c.2927+2T>C
|
|
|
NM_004646.4(NPHS1):c.3110-2A>G
|
rs2146812253
|
|
NM_004646.4(NPHS1):c.314A>C (p.Asp105Ala)
|
|
|
NM_004646.4(NPHS1):c.3287-2A>G
|
rs758432802
|
|
NM_004646.4(NPHS1):c.3312-1G>C
|
|
|
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)
|
rs786205518
|
|
NM_004646.4(NPHS1):c.3387+2T>C
|
rs2146807429
|
|
NM_004646.4(NPHS1):c.3481+4A>T
|
rs1057524695
|
|
NM_004646.4(NPHS1):c.397+1G>C
|
|
|
NM_004646.4(NPHS1):c.397+2T>A
|
rs1054950770
|
|
NM_004646.4(NPHS1):c.398-2A>G
|
rs1555763974
|
|
NM_004646.4(NPHS1):c.526+1G>C
|
rs371515262
|
|
NM_004646.4(NPHS1):c.608+1G>T
|
rs2146829967
|
|
NM_004646.4(NPHS1):c.609-2A>C
|
rs386833955
|
|
NM_004646.4(NPHS1):c.712+1G>A
|
|
|
NM_004646.4(NPHS1):c.713-2A>T
|
rs2146828046
|
|
NM_004646.4(NPHS1):c.928G>T (p.Asp310Tyr)
|
|
|