Unique variants in gene CHRM1

Information The variants shown are described using the NM_000738.2 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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.-32G>C r.(=) p.(=) g.62678604C>G Copied from the Exome Variant Server CHRM1_000040 2/12998 2/8596 0/4402
1 c.-14C>T r.(=) p.(=) g.62678586G>A Copied from the Exome Variant Server CHRM1_000039 13/12998 12/8596 1/4402
1 c.-6G>C r.(=) p.(=) g.62678578C>G Copied from the Exome Variant Server CHRM1_000036 1/12998 0/8596 1/4402
1 c.81C>T r.(=) p.(=) g.62678492G>A Copied from the Exome Variant Server CHRM1_000034 1/12998 0/8596 1/4402
1 c.96G>T r.(=) p.(=) g.62678477C>A Copied from the Exome Variant Server CHRM1_000032 1/12998 1/8596 0/4402
1 c.161C>T r.(?) p.(Thr54Met) g.62678412G>A Copied from the Exome Variant Server CHRM1_000048 1/12998 0/8596 1/4402
1 c.162G>A r.(=) p.(=) g.62678411C>T Copied from the Exome Variant Server CHRM1_000047 11/12998 1/8596 10/4402
1 c.210T>C r.(=) p.(=) g.62678363A>G Copied from the Exome Variant Server CHRM1_000046 1/12998 1/8596 0/4402
1 c.222C>T r.(=) p.(=) g.62678351G>A Copied from the Exome Variant Server CHRM1_000045 1/12998 1/8596 0/4402
1 c.248C>A r.(?) p.(Thr83Asn) g.62678325G>T Copied from the Exome Variant Server CHRM1_000044 2/12998 2/8596 0/4402
1 c.267C>A r.(=) p.(=) g.62678306G>T Copied from the Exome Variant Server CHRM1_000043 869/12998 775/8596 94/4402
1 c.336C>T r.(=) p.(=) g.62678237G>A Copied from the Exome Variant Server CHRM1_000042 1/12998 0/8596 1/4402
1 c.351G>T r.(=) p.(=) g.62678222C>A Copied from the Exome Variant Server CHRM1_000041 1/12998 1/8596 0/4402
1 c.415C>A r.(?) p.(Pro139Thr) g.62678158G>T Copied from the Exome Variant Server CHRM1_000038 1/12998 1/8596 0/4402
1 c.439G>A r.(?) p.(Gly147Ser) g.62678134C>T Copied from the Exome Variant Server CHRM1_000037 1/12998 0/8596 1/4402
1 c.618G>A r.(=) p.(=) g.62677955C>T Copied from the Exome Variant Server CHRM1_000035 1/12998 1/8596 0/4402
1 c.624C>T r.(=) p.(=) g.62677949G>A Copied from the Exome Variant Server CHRM1_000033 1/12998 1/8596 0/4402
1 c.630C>T r.(=) p.(=) g.62677943G>A Copied from the Exome Variant Server CHRM1_000031 3/12998 0/8596 3/4402
1 c.638G>A r.(?) p.(Arg213Gln) g.62677935C>T Copied from the Exome Variant Server CHRM1_000030 1/12998 1/8596 0/4402
1 c.684C>T r.(=) p.(=) g.62677889G>A Copied from the Exome Variant Server CHRM1_000029 3/12998 0/8596 3/4402
1 c.690G>A r.(=) p.(=) g.62677883C>T Copied from the Exome Variant Server CHRM1_000028 2/12998 1/8596 1/4402
1 c.720C>T r.(=) p.(=) g.62677853G>A Copied from the Exome Variant Server CHRM1_000027 2/12996 2/8594 0/4402
1 c.732T>A r.(=) p.(=) g.62677841A>T Copied from the Exome Variant Server CHRM1_000026 2/12994 2/8594 0/4400
1 c.741G>A r.(=) p.(=) g.62677832C>T Copied from the Exome Variant Server CHRM1_000025 1/12990 1/8592 0/4398
1 c.783C>T r.(=) p.(=) g.62677790G>A Copied from the Exome Variant Server CHRM1_000024 188/12886 174/8546 14/4340
1 c.825G>A r.(=) p.(=) g.62677748C>T Copied from the Exome Variant Server CHRM1_000023 1/12998 1/8596 0/4402
1 c.869C>T r.(?) p.(Ser290Phe) g.62677704G>A Copied from the Exome Variant Server CHRM1_000022 2/12998 0/8596 2/4402
1 c.870C>T r.(=) p.(=) g.62677703G>A Copied from the Exome Variant Server CHRM1_000021 1/12998 0/8596 1/4402
1 c.971A>G r.(?) p.(Asn324Ser) g.62677602T>C Copied from the Exome Variant Server CHRM1_000020 3/12998 3/8596 0/4402
1 c.987G>A r.(=) p.(=) g.62677586C>T Copied from the Exome Variant Server CHRM1_000018 1/12998 0/8596 1/4402
1 c.1016A>T r.(?) p.(Lys339Met) g.62677557T>A Copied from the Exome Variant Server CHRM1_000019 1/12998 1/8596 0/4402
1 c.1044G>A r.(=) p.(=) g.62677529C>T Copied from the Exome Variant Server CHRM1_000017 803/12998 307/8596 496/4402
1 c.1061C>A r.(?) p.(Thr354Asn) g.62677512G>T Copied from the Exome Variant Server CHRM1_000016 2/12998 2/8596 0/4402
1 c.1068G>T r.(=) p.(=) g.62677505C>A Copied from the Exome Variant Server CHRM1_000015 1/12998 1/8596 0/4402
1 c.1137A>C r.(=) p.(=) g.62677436T>G Copied from the Exome Variant Server CHRM1_000014 17/12998 0/8596 17/4402
1 c.1140G>A r.(=) p.(=) g.62677433C>T Copied from the Exome Variant Server CHRM1_000013 1/12998 0/8596 1/4402
1 c.1221C>T r.(=) p.(=) g.62677352G>A Copied from the Exome Variant Server CHRM1_000012 543/12998 488/8596 55/4402
1 c.1296del r.(?) p.(Leu433Cysfs*129) g.62677277del Copied from the Exome Variant Server CHRM1_000011 1/12518 0/8254 1/4264
1 c.1307G>T r.(?) p.(Arg436Leu) g.62677266C>A Copied from the Exome Variant Server CHRM1_000010 1/12998 1/8596 0/4402
1 c.1353C>T r.(=) p.(=) g.62677220G>A Copied from the Exome Variant Server CHRM1_000009 871/12998 776/8596 95/4402
1 c.1360C>T r.(?) p.(Arg454Cys) g.62677213G>A Copied from the Exome Variant Server CHRM1_000008 1/12998 1/8596 0/4402
1 c.1372C>T r.(?) p.(Arg458Cys) g.62677201G>A Copied from the Exome Variant Server CHRM1_000007 2/12998 0/8596 2/4402
1 c.1373G>A r.(?) p.(Arg458His) g.62677200C>T Copied from the Exome Variant Server CHRM1_000006 1/12998 1/8596 0/4402
1 c.*2A>G r.(=) p.(=) g.62677188T>C Copied from the Exome Variant Server CHRM1_000005 402/12998 12/8596 390/4402
1 c.*10C>T r.(=) p.(=) g.62677180G>A Copied from the Exome Variant Server CHRM1_000004 5/12998 0/8596 5/4402
1 c.*13C>A r.(=) p.(=) g.62677177G>T Copied from the Exome Variant Server CHRM1_000003 120/12998 0/8596 120/4402
1 c.*15G>A r.(=) p.(=) g.62677175C>T Copied from the Exome Variant Server CHRM1_000002 1/12998 0/8596 1/4402
1 c.*36C>T r.(=) p.(=) g.62677154G>A Copied from the Exome Variant Server CHRM1_000001 3/12998 0/8596 3/4402
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