All transcript variants in gene CHM

Information The variants shown are described using the NM_000390.2 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.8A>G r.(?) p.(Asp3Gly) g.85302529T>C Copied from the Exome Variant Server CHM_000099 3/10563 3/6728 0/3835
?/? c.11C>G r.(?) p.(Thr4Ser) g.85302526G>C Copied from the Exome Variant Server CHM_000098 1/10563 0/6728 1/3835
?/? c.29A>G r.(?) p.(Asp10Gly) g.85302508T>C Copied from the Exome Variant Server CHM_000097 2/10563 2/6728 0/3835
?/? c.37G>C r.(?) p.(Val13Leu) g.85302500C>G Copied from the Exome Variant Server CHM_000096 1/10563 0/6728 1/3835
?/? c.50-19C>T r.(=) p.(=) g.85282580G>A Copied from the Exome Variant Server CHM_000095 4/10563 4/6728 0/3835
?/? c.50-18G>A r.(=) p.(=) g.85282579C>T Copied from the Exome Variant Server CHM_000094 11/10563 0/6728 11/3835
?/? c.95G>A r.(?) p.(Arg32Gln) g.85282516C>T Copied from the Exome Variant Server CHM_000093 1/10563 0/6728 1/3835
?/? c.116+13A>G r.(=) p.(=) g.85282482T>C Copied from the Exome Variant Server CHM_000092 2/10563 0/6728 2/3835
?/? c.117-40C>G r.(=) p.(=) g.85236853G>C Copied from the Exome Variant Server CHM_000091 62/10275 55/6566 7/3709
?/? c.117-34del r.(=) p.(=) g.85236847del Copied from the Exome Variant Server CHM_000090 2/9939 1/6344 1/3595
?/? c.117-13_117-12insTT r.(=) p.(=) g.85236825_85236826insAA Copied from the Exome Variant Server CHM_000089 1164/9719 836/6220 328/3499
?/? c.117-12del r.(=) p.(=) g.85236825del Copied from the Exome Variant Server CHM_000088 1411/9719 856/6220 555/3499
?/? c.117-12dup r.(=) p.(=) g.85236825dup Copied from the Exome Variant Server CHM_000087 2511/9719 1747/6220 764/3499
?/? c.128A>G r.(?) p.(Tyr43Cys) g.85236802T>C Copied from the Exome Variant Server CHM_000086 1/10560 1/6725 0/3835
?/? c.162A>G r.(=) p.(=) g.85236768T>C Copied from the Exome Variant Server CHM_000085 3/10562 3/6727 0/3835
?/? c.182A>C r.(?) p.(Glu61Ala) g.85236748T>G Copied from the Exome Variant Server CHM_000084 1/10561 1/6726 0/3835
?/? c.189+12A>G r.(=) p.(=) g.85236729T>C Copied from the Exome Variant Server CHM_000083 1/10551 1/6721 0/3830
?/? c.189+44A>G r.(=) p.(=) g.85236697T>C Copied from the Exome Variant Server CHM_000082 2/10518 0/6697 2/3821
?/? c.189+54_189+55insG r.(=) p.(=) g.85236686_85236687insC Copied from the Exome Variant Server CHM_000081 1/10127 0/6431 1/3696
?/? c.205G>C r.(?) p.(Val69Leu) g.85233880C>G Copied from the Exome Variant Server CHM_000080 6/10563 0/6728 6/3835
?/? c.238C>T r.(?) p.(Leu80Phe) g.85233847G>A Copied from the Exome Variant Server CHM_000079 104/10563 2/6728 102/3835
?/? c.265A>T r.(?) p.(Ser89Cys) g.85233820T>A Copied from the Exome Variant Server CHM_000078 141/10563 133/6728 8/3835
?/? c.311C>G r.(?) p.(Ala104Gly) g.85233774G>C Copied from the Exome Variant Server CHM_000077 26/10563 0/6728 26/3835
?/? c.314+25A>C r.(=) p.(=) g.85233746T>G Copied from the Exome Variant Server CHM_000076 8/10561 0/6726 8/3835
?/? c.315-16T>C r.(=) p.(=) g.85219073A>G Copied from the Exome Variant Server CHM_000075 1/10466 0/6667 1/3799
?/? c.315-6T>C r.(=) p.(=) g.85219063A>G Copied from the Exome Variant Server CHM_000074 4/10503 0/6688 4/3815
?/? c.351A>G r.(=) p.(=) g.85219021T>C Copied from the Exome Variant Server CHM_000073 1789/10563 1639/6728 150/3835
?/? c.368C>T r.(?) p.(Ala123Val) g.85219004G>A Copied from the Exome Variant Server CHM_000072 1/10563 1/6728 0/3835
?/? c.422C>T r.(?) p.(Thr141Met) g.85218950G>A Copied from the Exome Variant Server CHM_000071 2/10563 2/6728 0/3835
?/? c.426G>A r.(=) p.(=) g.85218946C>T Copied from the Exome Variant Server CHM_000070 1/10563 0/6728 1/3835
?/? c.589A>G r.(?) p.(Ser197Gly) g.85218783T>C Copied from the Exome Variant Server CHM_000069 2/10563 2/6728 0/3835
?/? c.619A>G r.(?) p.(Thr207Ala) g.85218753T>C Copied from the Exome Variant Server CHM_000068 1/10563 1/6728 0/3835
?/? c.647C>G r.(?) p.(Thr216Ser) g.85218725G>C Copied from the Exome Variant Server CHM_000067 1/10563 0/6728 1/3835
?/? c.800G>A r.(?) p.(Arg267Gln) g.85213885C>T Copied from the Exome Variant Server CHM_000066 2/10563 2/6728 0/3835
?/? c.811G>A r.(?) p.(Val271Met) g.85213874C>T Copied from the Exome Variant Server CHM_000065 3/10563 1/6728 2/3835
?/? c.819+16A>T r.(=) p.(=) g.85213850T>A Copied from the Exome Variant Server CHM_000064 1/10563 1/6728 0/3835
?/? c.819+25_819+30del r.(=) p.(=) g.85213836_85213841del Copied from the Exome Variant Server CHM_000063 76/10205 0/6484 76/3721
?/? c.819+34C>G r.(=) p.(=) g.85213832G>C Copied from the Exome Variant Server CHM_000062 1/10562 0/6728 1/3834
?/? c.820-47T>G r.(=) p.(=) g.85213027A>C Copied from the Exome Variant Server CHM_000061 688/10535 4/6700 684/3835
?/? c.820-11_820-9del r.(=) p.(=) g.85212989_85212991del Copied from the Exome Variant Server CHM_000060 2/10194 0/6473 2/3721
?/? c.825G>A r.(=) p.(=) g.85212975C>T Copied from the Exome Variant Server CHM_000059 18/10552 1/6719 17/3833
?/? c.838G>C r.(?) p.(Asp280His) g.85212962C>G Copied from the Exome Variant Server CHM_000058 1/10551 0/6718 1/3833
?/? c.862A>C r.(?) p.(Thr288Pro) g.85212938T>G Copied from the Exome Variant Server CHM_000057 1/10555 1/6722 0/3833
?/? c.940+18T>C r.(=) p.(=) g.85212842A>G Copied from the Exome Variant Server CHM_000056 2/10520 2/6701 0/3819
?/? c.940+20G>C r.(=) p.(=) g.85212840C>G Copied from the Exome Variant Server CHM_000055 549/10520 4/6701 545/3819
?/? c.940+28C>T r.(=) p.(=) g.85212832G>A Copied from the Exome Variant Server CHM_000054 6/10514 0/6695 6/3819
?/? c.940+46T>C r.(=) p.(=) g.85212814A>G Copied from the Exome Variant Server CHM_000053 1/10498 1/6687 0/3811
?/? c.957A>G r.(=) p.(=) g.85211367T>C Copied from the Exome Variant Server CHM_000052 1/10563 1/6728 0/3835
?/? c.962A>G r.(?) p.(Tyr321Cys) g.85211362T>C Copied from the Exome Variant Server CHM_000051 1/10563 1/6728 0/3835
?/? c.990C>G r.(=) p.(=) g.85211334G>C Copied from the Exome Variant Server CHM_000050 1/10563 1/6728 0/3835
?/? c.1034C>T r.(?) p.(Ser345Leu) g.85211290G>A Copied from the Exome Variant Server CHM_000049 1/10563 0/6728 1/3835
?/? c.1040C>G r.(?) p.(Thr347Arg) g.85211284G>C Copied from the Exome Variant Server CHM_000048 1/10563 0/6728 1/3835
?/? c.1046G>A r.(?) p.(Ser349Asn) g.85211278C>T Copied from the Exome Variant Server CHM_000047 1/10563 1/6728 0/3835
?/? c.1100G>A r.(?) p.(Arg367Gln) g.85211224C>T Copied from the Exome Variant Server CHM_000046 7/10563 6/6728 1/3835
?/? c.1166+19T>A r.(=) p.(=) g.85211139A>T Copied from the Exome Variant Server CHM_000045 1/10563 0/6728 1/3835
?/? c.1167-36A>G r.(=) p.(=) g.85166379T>C Copied from the Exome Variant Server CHM_000044 1/10561 1/6726 0/3835
?/? c.1184G>A r.(?) p.(Gly395Asp) g.85166326C>T Copied from the Exome Variant Server CHM_000043 1/10561 1/6726 0/3835
?/? c.1185T>C r.(=) p.(=) g.85166325A>G Copied from the Exome Variant Server CHM_000042 4/10561 0/6726 4/3835
?/? c.1244+8T>A r.(=) p.(=) g.85166258A>T Copied from the Exome Variant Server CHM_000041 8/10559 7/6724 1/3835
?/? c.1244+34_1244+35insTC r.(=) p.(=) g.85166231_85166232insGA Copied from the Exome Variant Server CHM_000040 57/8975 41/5755 16/3220
?/? c.1244+44_1244+45del r.(=) p.(=) g.85166221_85166222del Copied from the Exome Variant Server CHM_000039 703/4986 411/3206 292/1780
?/? c.1244+39_1244+46del r.(=) p.(=) g.85166220_85166227del Copied from the Exome Variant Server CHM_000038 877/4805 541/3099 336/1706
?/? c.1244+45_1244+52del r.(=) p.(=) g.85166214_85166221del Copied from the Exome Variant Server CHM_000037 388/3876 229/2518 159/1358
?/? c.1244+57_1244+58del r.(=) p.(=) g.85166208_85166209del Copied from the Exome Variant Server CHM_000036 121/3141 75/2056 46/1085
?/? c.1244+57_1244+58dup r.(=) p.(=) g.85166208_85166209dup Copied from the Exome Variant Server CHM_000035 71/3141 15/2056 56/1085
?/? c.1244+59_1244+60del r.(=) p.(=) g.85166206_85166207del Copied from the Exome Variant Server CHM_000034 42/3139 18/2024 24/1115
?/? c.1245-2549G>A r.(=) p.(=) g.85158742C>T Copied from the Exome Variant Server CHM_000033 1/8125 1/5498 0/2627
?/? c.1245-2531_1245-2530insT r.(=) p.(=) g.85158723_85158724insA Copied from the Exome Variant Server CHM_000032 1/9234 1/5769 0/3465
?/? c.1245-2469A>T r.(=) p.(=) g.85158662T>A Copied from the Exome Variant Server CHM_000031 1/8125 1/5498 0/2627
?/? c.1245-49T>C r.(=) p.(=) g.85156242A>G Copied from the Exome Variant Server CHM_000030 1/10438 0/6635 1/3803
?/? c.1245-8_1245-6del r.(=) p.(=) g.85156199_85156201del Copied from the Exome Variant Server CHM_000029 6/10194 6/6475 0/3719
?/? c.1339G>A r.(?) p.(Val447Met) g.85156099C>T Copied from the Exome Variant Server CHM_000028 4/10563 0/6728 4/3835
?/? c.1349+10C>T r.(=) p.(=) g.85156079G>A Copied from the Exome Variant Server CHM_000027 4/10562 4/6727 0/3835
?/? c.1349+14C>T r.(=) p.(=) g.85156075G>A Copied from the Exome Variant Server CHM_000026 4/10562 0/6727 4/3835
?/? c.1349+21del r.(=) p.(=) g.85156068del Copied from the Exome Variant Server CHM_000025 26/10202 18/6482 8/3720
?/? c.1349+23G>A r.(=) p.(=) g.85156066C>T Copied from the Exome Variant Server CHM_000024 1/10560 0/6726 1/3834
?/? c.1350-52G>A r.(=) p.(=) g.85155766C>T Copied from the Exome Variant Server CHM_000023 2/6038 0/3621 2/2417
?/? c.1380T>C r.(=) p.(=) g.85155684A>G Copied from the Exome Variant Server CHM_000022 7/10561 0/6728 7/3833
?/? c.1413+12C>T r.(=) p.(=) g.85155639G>A Copied from the Exome Variant Server CHM_000021 1/10547 1/6721 0/3826
?/? c.1413+15A>G r.(=) p.(=) g.85155636T>C Copied from the Exome Variant Server CHM_000020 1/10542 1/6720 0/3822
?/? c.1413+26A>G r.(=) p.(=) g.85155625T>C Copied from the Exome Variant Server CHM_000019 1/10478 1/6681 0/3797
?/? c.1413+53C>T r.(=) p.(=) g.85155598G>A Copied from the Exome Variant Server CHM_000018 1/3595 1/2386 0/1209
?/? c.1488G>A r.(=) p.(=) g.85149215C>T Copied from the Exome Variant Server CHM_000017 16/10563 2/6728 14/3835
?/? c.1511-30C>G r.(=) p.(=) g.85134098G>C Copied from the Exome Variant Server CHM_000016 989/10459 15/6683 974/3776
?/? c.1511-6del r.(=) p.(=) g.85134074del Copied from the Exome Variant Server CHM_000015 289/10143 163/6452 126/3691
?/? c.1511-6dup r.(=) p.(=) g.85134074dup Copied from the Exome Variant Server CHM_000014 56/10143 41/6452 15/3691
?/? c.1610-29A>G r.(=) p.(=) g.85128246T>C Copied from the Exome Variant Server CHM_000013 1/9919 0/6304 1/3615
?/? c.1620A>G r.(=) p.(=) g.85128207T>C Copied from the Exome Variant Server CHM_000012 5/10557 0/6724 5/3833
?/? c.1633A>G r.(?) p.(Arg545Gly) g.85128194T>C Copied from the Exome Variant Server CHM_000011 1/10562 1/6727 0/3835
?/? c.1641G>T r.(=) p.(=) g.85128186C>A Copied from the Exome Variant Server CHM_000010 36/10563 30/6728 6/3835
?/? c.1664G>C r.(?) p.(Arg555Thr) g.85128163C>G Copied from the Exome Variant Server CHM_000009 1/10563 1/6728 0/3835
?/? c.1713C>T r.(=) p.(=) g.85128114G>A Copied from the Exome Variant Server CHM_000008 4/10563 4/6728 0/3835
?/? c.1739G>A r.(?) p.(Cys580Tyr) g.85128088C>T Copied from the Exome Variant Server CHM_000007 1/10563 1/6728 0/3835
?/? c.1770+4A>C r.spl? p.? g.85128053T>G Copied from the Exome Variant Server CHM_000006 1/10563 0/6728 1/3835
?/? c.1770+22A>G r.(=) p.(=) g.85128035T>C Copied from the Exome Variant Server CHM_000005 5/10563 0/6728 5/3835
?/? c.1771-4C>T r.spl? p.? g.85119830G>A Copied from the Exome Variant Server CHM_000004 2/10563 2/6728 0/3835
?/? c.1802A>G r.(?) p.(Asn601Ser) g.85119795T>C Copied from the Exome Variant Server CHM_000003 137/10563 0/6728 137/3835
?/? c.1878A>G r.(=) p.(=) g.85119719T>C Copied from the Exome Variant Server CHM_000002 1/10563 0/6728 1/3835
?/? c.1941C>T r.(=) p.(=) g.85119656G>A Copied from the Exome Variant Server CHM_000001 1/10563 0/6728 1/3835
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