Unique variants in gene NHSL2

Information The variants shown are described using the NM_001013627.2 transcript reference sequence.

164 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.281-10313T>C r.(=) p.(=) g.71341616T>C Copied from the Exome Variant Server NHSL2_000001 2/3600 2/2391 0/1209
1 c.281-10218A>G r.(=) p.(=) g.71341711A>G Copied from the Exome Variant Server NHSL2_000002 3362/3600 2389/2391 973/1209
1 c.281-9948C>T r.(=) p.(=) g.71341981C>T Copied from the Exome Variant Server NHSL2_000003 537/3600 194/2391 343/1209
1 c.281-9923A>G r.(=) p.(=) g.71342006A>G Copied from the Exome Variant Server NHSL2_000004 3511/3599 2389/2390 1122/1209
1 c.281-9902A>G r.(=) p.(=) g.71342027A>G Copied from the Exome Variant Server NHSL2_000005 3579/3600 2391/2391 1188/1209
1 c.281-9603G>A r.(=) p.(=) g.71342326G>A Copied from the Exome Variant Server NHSL2_000006 40/3600 1/2391 39/1209
1 c.281-9508del r.(=) p.(=) g.71342421del Copied from the Exome Variant Server NHSL2_000007 674/5151 289/3281 385/1870
1 c.281-9334C>G r.(=) p.(=) g.71342595C>G Copied from the Exome Variant Server NHSL2_000008 493/3600 283/2391 210/1209
1 c.281-9330T>C r.(=) p.(=) g.71342599T>C Copied from the Exome Variant Server NHSL2_000009 2572/3600 2091/2391 481/1209
1 c.281-8869G>A r.(=) p.(=) g.71343060G>A Copied from the Exome Variant Server NHSL2_000010 106/3600 0/2391 106/1209
1 c.281-8728C>T r.(=) p.(=) g.71343201C>T Copied from the Exome Variant Server NHSL2_000011 3/3600 0/2391 3/1209
1 c.281-8555_281-8544del r.(=) p.(=) g.71343374_71343385del Copied from the Exome Variant Server NHSL2_000012 8/6480 5/4010 3/2470
1 c.281-8496C>T r.(=) p.(=) g.71343433C>T Copied from the Exome Variant Server NHSL2_000013 538/3600 195/2391 343/1209
1 c.281-8433C>T r.(=) p.(=) g.71343496C>T Copied from the Exome Variant Server NHSL2_000014 18/3600 17/2391 1/1209
1 c.281-8394G>A r.(=) p.(=) g.71343535G>A Copied from the Exome Variant Server NHSL2_000015 539/3600 195/2391 344/1209
1 c.281-7941del r.(=) p.(=) g.71343988del Copied from the Exome Variant Server NHSL2_000016 92/5272 7/3338 85/1934
1 c.281-7938_281-7929del r.(=) p.(=) g.71343991_71344000del Copied from the Exome Variant Server NHSL2_000017 69/5264 1/3340 68/1924
1 c.281-7937del r.(=) p.(=) g.71343992del Copied from the Exome Variant Server NHSL2_000018 67/5250 0/3337 67/1913
1 c.281-7935_281-7928del r.(=) p.(=) g.71343994_71344001del Copied from the Exome Variant Server NHSL2_000019 67/5238 2/3320 65/1918
1 c.281-7934_281-7928del r.(=) p.(=) g.71343995_71344001del Copied from the Exome Variant Server NHSL2_000021 70/5259 3/3330 67/1929
1 c.281-7879del r.(=) p.(=) g.71344050del Copied from the Exome Variant Server NHSL2_000022 1/5317 1/3339 0/1978
1 c.281-7810del r.(=) p.(=) g.71344119del Copied from the Exome Variant Server NHSL2_000025 8/5743 4/3545 4/2198
1 c.281-7738A>G r.(=) p.(=) g.71344191A>G Copied from the Exome Variant Server NHSL2_000026 1/3600 1/2391 0/1209
1 c.281-7626T>C r.(=) p.(=) g.71344303T>C Copied from the Exome Variant Server NHSL2_000028 2175/3600 1914/2391 261/1209
1 c.281-7568G>A r.(=) p.(=) g.71344361G>A Copied from the Exome Variant Server NHSL2_000030 1/3600 1/2391 0/1209
1 c.281-7454C>T r.(=) p.(=) g.71344475C>T Copied from the Exome Variant Server NHSL2_000020 2/3600 2/2391 0/1209
1 c.281-7379C>T r.(=) p.(=) g.71344550C>T Copied from the Exome Variant Server NHSL2_000023 1/3600 0/2391 1/1209
1 c.281-7341T>C r.(=) p.(=) g.71344588T>C Copied from the Exome Variant Server NHSL2_000024 2030/3600 1898/2391 132/1209
1 c.281-7316C>T r.(=) p.(=) g.71344613C>T Copied from the Exome Variant Server NHSL2_000027 12/3600 11/2391 1/1209
1 c.281-7259G>A r.(=) p.(=) g.71344670G>A Copied from the Exome Variant Server NHSL2_000029 1/3600 0/2391 1/1209
1 c.281-7216C>T r.(=) p.(=) g.71344713C>T Copied from the Exome Variant Server NHSL2_000031 13/3600 0/2391 13/1209
1 c.281-7202_281-7199del r.(=) p.(=) g.71344727_71344730del Copied from the Exome Variant Server NHSL2_000032 23/7290 14/4689 9/2601
1 c.281-7202_281-7199dup r.(=) p.(=) g.71344727_71344730dup Copied from the Exome Variant Server NHSL2_000033 26/7290 20/4689 6/2601
1 c.281-7169G>A r.(=) p.(=) g.71344760G>A Copied from the Exome Variant Server NHSL2_000034 459/3600 193/2391 266/1209
1 c.281-7162T>G r.(=) p.(=) g.71344767T>G Copied from the Exome Variant Server NHSL2_000035 459/3600 193/2391 266/1209
1 c.281-2229C>T r.(?) p.(Arg564His) g.71349700C>T Copied from the Exome Variant Server NHSL2_000036 19/9728 1/6460 18/3268
1 c.281-2176G>A r.(=) p.(=) g.71349753G>A Copied from the Exome Variant Server NHSL2_000037 5579/9723 5072/6457 507/3266
1 c.281-2155T>C r.(=) p.(=) g.71349774T>C Copied from the Exome Variant Server NHSL2_000038 5938/9787 5125/6467 813/3320
1 c.281-2148C>T r.(?) p.(Arg537His) g.71349781C>T Copied from the Exome Variant Server NHSL2_000039 4/9767 0/6455 4/3312
1 c.281-2138G>A r.(?) p.(Arg534Cys) g.71349791G>A Copied from the Exome Variant Server NHSL2_000040 3/9801 3/6455 0/3346
1 c.281-2125G>C r.(=) p.(=) g.71349804G>C Copied from the Exome Variant Server NHSL2_000041 2/9827 2/6459 0/3368
1 c.281-2122G>C r.(=) p.(=) g.71349807G>C Copied from the Exome Variant Server NHSL2_000042 91/9857 0/6473 91/3384
1 c.281-2070C>T r.(?) p.(Arg511Gln) g.71349859C>T Copied from the Exome Variant Server NHSL2_000043 2/9979 1/6502 1/3477
1 c.281-2009C>G r.(?) p.(Glu491Gln) g.71349920C>G Copied from the Exome Variant Server NHSL2_000044 1/10123 1/6554 0/3569
1 c.281-2006C>G r.(?) p.(Ala490Pro) g.71349923C>G Copied from the Exome Variant Server NHSL2_000045 3/10151 3/6570 0/3581
1 c.281-1969C>T r.(=) p.(=) g.71349960C>T Copied from the Exome Variant Server NHSL2_000046 1/10354 1/6627 0/3727
1 c.281-1966G>A r.(=) p.(=) g.71349963G>A Copied from the Exome Variant Server NHSL2_000048 1/10378 0/6635 1/3743
1 c.281-1936C>T r.(=) p.(=) g.71349993C>T Copied from the Exome Variant Server NHSL2_000050 145/10402 0/6643 145/3759
1 c.281-1881T>C r.(?) p.(Tyr448Cys) g.71350048T>C Copied from the Exome Variant Server NHSL2_000052 1/10372 0/6631 1/3741
1 c.281-1796T>G r.(?) p.(Ser420Arg) g.71350133T>G Copied from the Exome Variant Server NHSL2_000054 656/10282 578/6597 78/3685
1 c.281-1791C>A r.(?) p.(Gly418Val) g.71350138C>A Copied from the Exome Variant Server NHSL2_000047 1/10286 0/6605 1/3681
1 c.281-1789del r.(?) p.(Gly418Glufs*47) g.71350140del Copied from the Exome Variant Server NHSL2_000049 19/9852 2/6333 17/3519
1 c.281-1731_281-1729del r.(?) p.(Glu400del) g.71350198_71350200del Copied from the Exome Variant Server NHSL2_000051 18/9625 8/6241 10/3384
1 c.281-1713T>C r.(?) p.(Glu392Gly) g.71350216T>C Copied from the Exome Variant Server NHSL2_000053 1/10057 1/6516 0/3541
1 c.281-1708_281-1706del r.(?) p.(Lys390del) g.71350221_71350223del Copied from the Exome Variant Server NHSL2_000055 7/9536 7/6202 0/3334
1 c.281-1676C>T r.(?) p.(Glu380Lys) g.71350253C>T Copied from the Exome Variant Server NHSL2_000056 4/9970 0/6496 4/3474
1 c.281-1663_281-1661del r.(?) p.(Glu375del) g.71350266_71350268del Copied from the Exome Variant Server NHSL2_000057 4/9504 2/6232 2/3272
1 c.281-1635A>G r.(?) p.(Met366Thr) g.71350294A>G Copied from the Exome Variant Server NHSL2_000058 57/9974 0/6522 57/3452
1 c.281-1595G>A r.(?) p.(Arg353Cys) g.71350334G>A Copied from the Exome Variant Server NHSL2_000059 1/10013 1/6533 0/3480
1 c.281-1539T>C r.(?) p.(Asn334Ser) g.71350390T>C Copied from the Exome Variant Server NHSL2_000060 4/9837 1/6503 3/3334
1 c.281-1465T>A r.(?) p.(Arg309Ser) g.71350464T>A Copied from the Exome Variant Server NHSL2_000061 8/9714 0/6450 8/3264
1 c.281-1429C>T r.(=) p.(=) g.71350500C>T Copied from the Exome Variant Server NHSL2_000062 9/9673 0/6441 9/3232
1 c.281-1424C>G r.(?) p.(Asp296His) g.71350505C>G Copied from the Exome Variant Server NHSL2_000063 2/9656 2/6434 0/3222
1 c.281-1402G>C r.(=) p.(=) g.71350527G>C Copied from the Exome Variant Server NHSL2_000065 1/9622 1/6418 0/3204
1 c.281-1294G>A r.(=) p.(=) g.71350635G>A Copied from the Exome Variant Server NHSL2_000068 1/9832 0/6498 1/3334
1 c.281-1199G>A r.(=) p.(=) g.71350730G>A Copied from the Exome Variant Server NHSL2_000070 1/9733 1/6443 0/3290
1 c.281-1083G>A r.(?) p.(Pro182Leu) g.71350846G>A Copied from the Exome Variant Server NHSL2_000072 1/9582 0/6403 1/3179
1 c.281-961C>T r.(=) p.(=) g.71350968C>T Copied from the Exome Variant Server NHSL2_000075 1/9224 1/6186 0/3038
1 c.281-874G>T r.(?) p.(Ser112Arg) g.71351055G>T Copied from the Exome Variant Server NHSL2_000077 8/9583 8/6373 0/3210
1 c.281-724G>C r.(=) p.(=) g.71351205G>C Copied from the Exome Variant Server NHSL2_000079 2/9810 2/6472 0/3338
1 c.281-715del r.(?) p.(Ile60*) g.71351214del Copied from the Exome Variant Server NHSL2_000081 94/9426 66/6220 28/3206
1 c.281-630T>C r.(?) p.(Asn31Ser) g.71351299T>C Copied from the Exome Variant Server NHSL2_000083 91/9608 0/6405 91/3203
1 c.281-592C>A r.(=) p.(=) g.71351337C>A Copied from the Exome Variant Server NHSL2_000085 181/9497 3/6353 178/3144
1 c.281-573C>T r.(?) p.(Arg12His) g.71351356C>T Copied from the Exome Variant Server NHSL2_000087 2/9345 0/6267 2/3078
1 c.281-516G>A r.(=) p.(=) g.71351413G>A Copied from the Exome Variant Server NHSL2_000090 1/7701 1/5183 0/2518
1 c.281-490T>C r.(=) p.(=) g.71351439T>C Copied from the Exome Variant Server NHSL2_000064 1/7292 0/4896 1/2396
1 c.300G>T r.(=) p.(=) g.71351948G>T Copied from the Exome Variant Server NHSL2_000066 12/3600 0/2391 12/1209
1 c.487C>T r.(?) p.(Arg163Cys) g.71353991C>T Copied from the Exome Variant Server NHSL2_000067 1/3600 1/2391 0/1209
1 c.544C>T r.(?) p.(Arg182Cys) g.71354048C>T Copied from the Exome Variant Server NHSL2_000069 26/3600 0/2391 26/1209
1 c.651C>T r.(=) p.(=) g.71354445C>T Copied from the Exome Variant Server NHSL2_000071 6/3600 0/2391 6/1209
1 c.729G>A r.(=) p.(=) g.71354523G>A Copied from the Exome Variant Server NHSL2_000073 16/3600 14/2391 2/1209
1 c.845G>A r.(?) p.(Arg282Gln) g.71357028G>A Copied from the Exome Variant Server NHSL2_000074 2/3600 2/2391 0/1209
1 c.851G>A r.(?) p.(Arg284Gln) g.71357034G>A Copied from the Exome Variant Server NHSL2_000076 1/3600 0/2391 1/1209
1 c.892+18G>A r.(=) p.(=) g.71357093G>A Copied from the Exome Variant Server NHSL2_000078 3279/3600 2391/2391 888/1209
1 c.929C>G r.(?) p.(Ser310Cys) g.71358327C>G Copied from the Exome Variant Server NHSL2_000080 1/3600 1/2391 0/1209
1 c.940G>A r.(?) p.(Asp314Asn) g.71358338G>A Copied from the Exome Variant Server NHSL2_000082 1/3600 0/2391 1/1209
1 c.1034T>C r.(?) p.(Leu345Pro) g.71358432T>C Copied from the Exome Variant Server NHSL2_000164 6/3600 6/2391 0/1209
1 c.1075C>T r.(?) p.(Arg359Trp) g.71358473C>T Copied from the Exome Variant Server NHSL2_000084 1/10476 0/6666 1/3810
1 c.1100T>C r.(?) p.(Met367Thr) g.71358498T>C Copied from the Exome Variant Server NHSL2_000086 1/10536 1/6705 0/3831
1 c.1194C>G r.(=) p.(=) g.71358592C>G Copied from the Exome Variant Server NHSL2_000088 1/10563 1/6728 0/3835
1 c.1243G>C r.(?) p.(Gly415Arg) g.71358641G>C Copied from the Exome Variant Server NHSL2_000089 3/10563 3/6728 0/3835
1 c.1329C>T r.(=) p.(=) g.71358727C>T Copied from the Exome Variant Server NHSL2_000091 2/10563 1/6728 1/3835
1 c.1330G>A r.(?) p.(Ala444Thr) g.71358728G>A Copied from the Exome Variant Server NHSL2_000092 2/10563 1/6728 1/3835
1 c.1358G>A r.(?) p.(Gly453Glu) g.71358756G>A Copied from the Exome Variant Server NHSL2_000093 16/10563 0/6728 16/3835
1 c.1379G>A r.(?) p.(Arg460His) g.71358777G>A Copied from the Exome Variant Server NHSL2_000094 3/10563 3/6728 0/3835
1 c.1398C>T r.(=) p.(=) g.71358796C>T Copied from the Exome Variant Server NHSL2_000095 1/10563 0/6728 1/3835
1 c.1446G>A r.(=) p.(=) g.71358844G>A Copied from the Exome Variant Server NHSL2_000096 65/10547 0/6718 65/3829
1 c.1532A>G r.(?) p.(Asp511Gly) g.71358930A>G Copied from the Exome Variant Server NHSL2_000097 1/10435 0/6633 1/3802
1 c.1560G>T r.(?) p.(Glu520Asp) g.71358958G>T Copied from the Exome Variant Server NHSL2_000099 1/10460 0/6654 1/3806
1 c.1562C>T r.(?) p.(Ala521Val) g.71358960C>T Copied from the Exome Variant Server NHSL2_000100 3/10463 0/6656 3/3807
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