All transcript variants in gene TINF2

Information The variants shown are described using the NM_001099274.1 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-19C>T r.(=) p.(=) g.24711557G>A Copied from the Exome Variant Server TINF2_000065 1/11326 1/7810 0/3516
?/? c.62A>G r.(?) p.(Gln21Arg) g.24711477T>C Copied from the Exome Variant Server TINF2_000064 3/12238 3/8298 0/3940
?/? c.63G>C r.(?) p.(Gln21His) g.24711476C>G Copied from the Exome Variant Server TINF2_000063 1/12260 1/8306 0/3954
?/? c.74G>C r.(?) p.(Gly25Ala) g.24711465C>G Copied from the Exome Variant Server TINF2_000062 15/12302 15/8318 0/3984
?/? c.112C>T r.(=) p.(=) g.24711427G>A Copied from the Exome Variant Server TINF2_000061 1/12470 0/8392 1/4078
?/? c.127G>A r.(?) p.(Ala43Thr) g.24711412C>T Copied from the Exome Variant Server TINF2_000060 2/12522 0/8414 2/4108
?/? c.159C>T r.(=) p.(=) g.24711380G>A Copied from the Exome Variant Server TINF2_000059 1/12484 1/8406 0/4078
?/? c.176T>C r.(?) p.(Met59Thr) g.24711363A>G Copied from the Exome Variant Server TINF2_000058 1/12400 1/8376 0/4024
?/? c.193-33C>G r.(=) p.(=) g.24711233G>C Copied from the Exome Variant Server TINF2_000057 2/12198 2/8280 0/3918
?/? c.250A>C r.(?) p.(Asn84His) g.24711143T>G Copied from the Exome Variant Server TINF2_000056 1/12072 0/8246 1/3826
?/? c.297+14G>A r.(=) p.(=) g.24711082C>T Copied from the Exome Variant Server TINF2_000055 1/12152 0/8294 1/3858
?/? c.297+15G>A r.(=) p.(=) g.24711081C>T Copied from the Exome Variant Server TINF2_000054 1/12160 1/8298 0/3862
?/? c.297+38A>T r.(=) p.(=) g.24711058T>A Copied from the Exome Variant Server TINF2_000053 1/12170 1/8284 0/3886
?/? c.297+45G>A r.(=) p.(=) g.24711051C>T Copied from the Exome Variant Server TINF2_000052 65/12180 1/8286 64/3894
?/? c.359A>G r.(?) p.(Gln120Arg) g.24710921T>C Copied from the Exome Variant Server TINF2_000051 1/11948 0/8216 1/3732
?/? c.371C>T r.(?) p.(Ala124Val) g.24710909G>A Copied from the Exome Variant Server TINF2_000050 4/11904 2/8198 2/3706
?/? c.399+32A>G r.(=) p.(=) g.24710849T>C Copied from the Exome Variant Server TINF2_000049 3/11818 2/8162 1/3656
?/? c.399+46del r.(=) p.(=) g.24710835del Copied from the Exome Variant Server TINF2_000048 291/11272 144/7780 147/3492
?/? c.400-18_400-17insCCT r.(=) p.(=) g.24710534_24710535insAGG Copied from the Exome Variant Server TINF2_000047 747/11544 9/7908 738/3636
?/? c.400-9C>T r.(=) p.(=) g.24710526G>A Copied from the Exome Variant Server TINF2_000046 12/12076 0/8262 12/3814
?/? c.403C>T r.(?) p.(Leu135Phe) g.24710514G>A Copied from the Exome Variant Server TINF2_000045 2/12100 2/8274 0/3826
?/? c.507+6G>A r.(=) p.(=) g.24710404C>T Copied from the Exome Variant Server TINF2_000044 1/12468 0/8388 1/4080
?/? c.507+31A>T r.(=) p.(=) g.24710379T>A Copied from the Exome Variant Server TINF2_000043 3/12512 3/8406 0/4106
?/? c.508-42_508-38del r.(=) p.(=) g.24710360_24710364del Copied from the Exome Variant Server TINF2_000042 1/12034 1/8048 0/3986
?/? c.508-28G>T r.(=) p.(=) g.24710350C>A Copied from the Exome Variant Server TINF2_000041 1/12582 1/8438 0/4144
?/? c.520C>T r.(=) p.(=) g.24710310G>A Copied from the Exome Variant Server TINF2_000040 3/12570 1/8430 2/4140
?/? c.604+36G>A r.(=) p.(=) g.24710190C>T Copied from the Exome Variant Server TINF2_000039 1/12080 1/8246 0/3834
?/? c.605-41C>T r.(=) p.(=) g.24710122G>A Copied from the Exome Variant Server TINF2_000038 73/11918 0/8190 73/3728
?/? c.605-31T>C r.(=) p.(=) g.24710112A>G Copied from the Exome Variant Server TINF2_000037 2/11898 0/8188 2/3710
?/? c.605-17C>T r.(=) p.(=) g.24710098G>A Copied from the Exome Variant Server TINF2_000036 1/11920 1/8208 0/3712
?/? c.622T>C r.(?) p.(Ser208Pro) g.24710064A>G Copied from the Exome Variant Server TINF2_000035 1/12070 1/8268 0/3802
?/? c.640C>T r.(?) p.(Pro214Ser) g.24710046G>A Copied from the Exome Variant Server TINF2_000034 1/12154 1/8278 0/3876
?/? c.684C>T r.(=) p.(=) g.24710002G>A Copied from the Exome Variant Server TINF2_000033 3/12308 3/8322 0/3986
?/? c.686A>G r.(?) p.(Asn229Ser) g.24710000T>C Copied from the Exome Variant Server TINF2_000032 1/12308 1/8322 0/3986
?/? c.710G>A r.(?) p.(Gly237Asp) g.24709976C>T Copied from the Exome Variant Server TINF2_000031 453/12312 4/8332 449/3980
?/? c.721C>T r.(?) p.(Pro241Ser) g.24709965G>A Copied from the Exome Variant Server TINF2_000030 97/12312 1/8322 96/3990
?/? c.734C>A r.(?) p.(Ser245Tyr) g.24709952G>T Copied from the Exome Variant Server TINF2_000029 4/12272 4/8308 0/3964
?/? c.771C>T r.(=) p.(=) g.24709915G>A Copied from the Exome Variant Server TINF2_000028 11/12170 7/8272 4/3898
?/? c.802G>C r.(?) p.(Val268Leu) g.24709884C>G Copied from the Exome Variant Server TINF2_000027 1/12074 1/8248 0/3826
?/? c.819C>T r.(=) p.(=) g.24709867G>A Copied from the Exome Variant Server TINF2_000026 2/12064 2/8258 0/3806
?/? c.841G>A r.(?) p.(Glu281Lys) g.24709845C>T Copied from the Exome Variant Server TINF2_000025 5/12218 0/8304 5/3914
?/? c.936C>A r.(?) p.(Tyr312*) g.24709750G>T Copied from the Exome Variant Server TINF2_000024 2/12474 1/8372 1/4102
?/? c.991_992del r.(?) p.(Pro331Metfs*15) g.24709694_24709695del Copied from the Exome Variant Server TINF2_000023 3/11798 3/7976 0/3822
?/? c.1029C>T r.(=) p.(=) g.24709657G>A Copied from the Exome Variant Server TINF2_000022 1/12296 0/8332 1/3964
?/? c.1030C>T r.(?) p.(Pro344Ser) g.24709656G>A Copied from the Exome Variant Server TINF2_000021 2/12284 0/8326 2/3958
?/? c.1052A>G r.(?) p.(Glu351Gly) g.24709634T>C Copied from the Exome Variant Server TINF2_000020 1/12332 1/8336 0/3996
?/? c.1059G>A r.(=) p.(=) g.24709627C>T Copied from the Exome Variant Server TINF2_000019 4/12366 0/8352 4/4014
?/? c.1061+4_1061+7del r.spl? p.? g.24709618_24709621del Copied from the Exome Variant Server TINF2_000018 2/11856 0/7992 2/3864
?/? c.1061+37T>C r.(=) p.(=) g.24709588A>G Copied from the Exome Variant Server TINF2_000017 10/12434 0/8370 10/4064
?/? c.1076G>A r.(?) p.(Cys359Tyr) g.24709522C>T Copied from the Exome Variant Server TINF2_000016 1/12270 1/8346 0/3924
?/? c.1081A>G r.(?) p.(Met361Val) g.24709517T>C Copied from the Exome Variant Server TINF2_000015 1/12246 1/8336 0/3910
?/? c.1084G>C r.(?) p.(Asp362His) g.24709514C>G Copied from the Exome Variant Server TINF2_000014 2/12216 0/8332 2/3884
?/? c.1092G>A r.(=) p.(=) g.24709506C>T Copied from the Exome Variant Server TINF2_000013 61/12158 54/8300 7/3858
?/? c.1093A>G r.(?) p.(Arg365Gly) g.24709505T>C Copied from the Exome Variant Server TINF2_000012 1/12150 1/8296 0/3854
?/? c.1129+15T>A r.(=) p.(=) g.24709454A>T Copied from the Exome Variant Server TINF2_000011 30/12122 0/8256 30/3866
?/? c.1129+36C>T r.(=) p.(=) g.24709433G>A Copied from the Exome Variant Server TINF2_000010 1/12126 0/8254 1/3872
?/? c.1129+50_1129+51insACT r.(=) p.(=) g.24709418_24709419insAGT Copied from the Exome Variant Server TINF2_000009 36/11618 0/7894 36/3724
?/? c.1139C>T r.(?) p.(Pro380Leu) g.24709352G>A Copied from the Exome Variant Server TINF2_000008 2/12336 2/8338 0/3998
?/? c.1140G>A r.(=) p.(=) g.24709351C>T Copied from the Exome Variant Server TINF2_000007 763/12356 10/8348 753/4008
?/? c.1166T>C r.(?) p.(Ile389Thr) g.24709325A>G Copied from the Exome Variant Server TINF2_000006 3/12274 0/8318 3/3956
?/? c.1221+1G>A r.spl? p.? g.24709269C>T Copied from the Exome Variant Server TINF2_000005 1/12146 1/8258 0/3888
?/? c.1236C>T r.(=) p.(=) g.24709123G>A Copied from the Exome Variant Server TINF2_000004 62/12042 59/8238 3/3804
?/? c.1288C>T r.(?) p.(Pro430Ser) g.24709071G>A Copied from the Exome Variant Server TINF2_000003 1/12060 1/8246 0/3814
?/? c.1290C>G r.(=) p.(=) g.24709069G>C Copied from the Exome Variant Server TINF2_000002 5/12066 5/8250 0/3816
?/? c.1307C>T r.(?) p.(Ala436Val) g.24709052G>A Copied from the Exome Variant Server TINF2_000001 1/12066 1/8248 0/3818
./. c.*1158T>C r.(=) p.(=) g.24707845A>G Copied from the Exome Variant Server GMPR2_000062 5/12300 5/8350 0/3950
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