Unique variants in gene BMP15

Information The variants shown are described using the NM_005448.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-22G>T r.(=) p.(=) g.50653762G>T Copied from the Exome Variant Server BMP15_000001 2/10561 2/6726 0/3835
1 c.-9C>G r.(=) p.(=) g.50653775C>G Copied from the Exome Variant Server BMP15_000002 2156/10561 1548/6726 608/3835
1 c.13A>C r.(?) p.(Ser5Arg) g.50653796A>C Copied from the Exome Variant Server BMP15_000003 444/10560 1/6726 443/3834
1 c.46G>A r.(?) p.(Val16Met) g.50653829G>A Copied from the Exome Variant Server BMP15_000004 1/10560 0/6726 1/3834
1 c.162C>T r.(=) p.(=) g.50653945C>T Copied from the Exome Variant Server BMP15_000005 3/10554 2/6724 1/3830
1 c.181C>T r.(?) p.(Arg61Trp) g.50653964C>T Copied from the Exome Variant Server BMP15_000006 1/10545 1/6722 0/3823
1 c.188T>A r.(?) p.(Leu63Gln) g.50653971T>A Copied from the Exome Variant Server BMP15_000007 2/10549 2/6722 0/3827
1 c.202C>T r.(?) p.(Arg68Trp) g.50653985C>T Copied from the Exome Variant Server BMP15_000008 13/10553 12/6724 1/3829
1 c.223C>T r.(?) p.(Arg75Trp) g.50654006C>T Copied from the Exome Variant Server BMP15_000009 1/10552 1/6721 0/3831
1 c.226C>T r.(?) p.(Arg76Cys) g.50654009C>T Copied from the Exome Variant Server BMP15_000010 1/10555 0/6723 1/3832
1 c.269T>C r.(?) p.(Ile90Thr) g.50654052T>C Copied from the Exome Variant Server BMP15_000011 1/10549 1/6719 0/3830
1 c.308A>G r.(?) p.(Asn103Ser) g.50654091A>G Copied from the Exome Variant Server BMP15_000012 578/10503 535/6690 43/3813
1 c.328+24G>A r.(=) p.(=) g.50654135G>A Copied from the Exome Variant Server BMP15_000013 1/10215 0/6505 1/3710
1 c.329-41A>G r.(=) p.(=) g.50658716A>G Copied from the Exome Variant Server BMP15_000014 104/10562 0/6727 104/3835
1 c.329-36C>G r.(=) p.(=) g.50658721C>G Copied from the Exome Variant Server BMP15_000015 1/10562 0/6727 1/3835
1 c.345G>C r.(?) p.(Gln115His) g.50658773G>C Copied from the Exome Variant Server BMP15_000016 2/10562 2/6727 0/3835
1 c.352G>A r.(?) p.(Gly118Ser) g.50658780G>A Copied from the Exome Variant Server BMP15_000017 1/10562 1/6727 0/3835
1 c.409T>A r.(?) p.(Tyr137Asn) g.50658837T>A Copied from the Exome Variant Server BMP15_000018 4/10562 0/6727 4/3835
1 c.413G>A r.(?) p.(Arg138His) g.50658841G>A Copied from the Exome Variant Server BMP15_000019 1/10562 1/6727 0/3835
1 c.416A>G r.(?) p.(His139Arg) g.50658844A>G Copied from the Exome Variant Server BMP15_000020 1/10562 1/6727 0/3835
1 c.430A>G r.(?) p.(Thr144Ala) g.50658858A>G Copied from the Exome Variant Server BMP15_000021 1/10562 1/6727 0/3835
1 c.434G>A r.(?) p.(Arg145His) g.50658862G>A Copied from the Exome Variant Server BMP15_000022 1/10562 0/6727 1/3835
1 c.443T>C r.(?) p.(Leu148Pro) g.50658871T>C Copied from the Exome Variant Server BMP15_000023 97/10562 4/6727 93/3835
1 c.520C>T r.(?) p.(Pro174Ser) g.50658948C>T Copied from the Exome Variant Server BMP15_000024 2/10562 2/6727 0/3835
1 c.538G>A r.(?) p.(Ala180Thr) g.50658966G>A Copied from the Exome Variant Server BMP15_000025 107/10562 95/6727 12/3835
1 c.581T>C r.(?) p.(Phe194Ser) g.50659009T>C Copied from the Exome Variant Server BMP15_000026 13/10562 12/6727 1/3835
1 c.661T>G r.(?) p.(Trp221Gly) g.50659089T>G Copied from the Exome Variant Server BMP15_000027 1/10562 1/6727 0/3835
1 c.730C>T r.(?) p.(Arg244Trp) g.50659158C>T Copied from the Exome Variant Server BMP15_000028 1/10562 1/6727 0/3835
1 c.731G>A r.(?) p.(Arg244Gln) g.50659159G>A Copied from the Exome Variant Server BMP15_000029 1/10562 1/6727 0/3835
1 c.755G>T r.(?) p.(Gly252Val) g.50659183G>T Copied from the Exome Variant Server BMP15_000030 1/10562 1/6727 0/3835
1 c.782_783insTCT r.(?) p.(Leu263dup) g.50659210_50659211insTCT Copied from the Exome Variant Server BMP15_000031 1706/10204 35/6483 1671/3721
1 c.807A>G r.(=) p.(=) g.50659235A>G Copied from the Exome Variant Server BMP15_000032 1/10562 1/6727 0/3835
1 c.819A>C r.(=) p.(=) g.50659247A>C Copied from the Exome Variant Server BMP15_000033 102/10562 3/6727 99/3835
1 c.852C>T r.(=) p.(=) g.50659280C>T Copied from the Exome Variant Server BMP15_000034 1767/10562 37/6727 1730/3835
1 c.860A>G r.(?) p.(Glu287Gly) g.50659288A>G Copied from the Exome Variant Server BMP15_000035 1/10562 1/6727 0/3835
1 c.862A>G r.(?) p.(Asn288Asp) g.50659290A>G Copied from the Exome Variant Server BMP15_000036 7/10562 0/6727 7/3835
1 c.895A>G r.(?) p.(Ser299Gly) g.50659323A>G Copied from the Exome Variant Server BMP15_000037 1/10562 1/6727 0/3835
1 c.968C>A r.(?) p.(Thr323Asn) g.50659396C>A Copied from the Exome Variant Server BMP15_000038 1/10562 1/6727 0/3835
1 c.1009C>A r.(?) p.(His337Asn) g.50659437C>A Copied from the Exome Variant Server BMP15_000039 2/10562 2/6727 0/3835
1 c.1011C>T r.(=) p.(=) g.50659439C>T Copied from the Exome Variant Server BMP15_000040 50/10562 2/6727 48/3835
1 c.1060C>T r.(?) p.(Arg354Trp) g.50659488C>T Copied from the Exome Variant Server BMP15_000041 1/10562 1/6727 0/3835
1 c.1077G>A r.(=) p.(=) g.50659505G>A Copied from the Exome Variant Server BMP15_000042 2/10562 1/6727 1/3835
1 c.1140G>A r.(=) p.(=) g.50659568G>A Copied from the Exome Variant Server BMP15_000043 2/10562 2/6727 0/3835
1 c.*1C>T r.(=) p.(=) g.50659608C>T Copied from the Exome Variant Server BMP15_000044 1/10562 0/6727 1/3835
1 c.*13G>A r.(=) p.(=) g.50659620G>A Copied from the Exome Variant Server BMP15_000045 217/10560 1/6725 216/3835
Legend