| 基因名 | 突变 |
|---|---|
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95164135C>A,c.1757G>T,p.G586V |
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95158369C>T,c.1954G>A,p.E652K |
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95158308G>A,c.2015C>T,p.T672M |
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95158191C>A,c.2132G>T,p.S711I |
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95143186C>G,c.2202G>C,p.E734D |
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95143172T>G,c.2216A>C,p.E739A |
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95143164C>T,c.2224G>A,p.V742I |
| CDH17(NM_001144663,cadherin 17, LI cadherin (liver-intestine),832aa) | g.8:95142890C>T,c.2362G>A,p.A788T |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66951619T>G,c.55A>C,p.K19Q |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66949971G>A,c.421C>T,p.P141S |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66948304G>A,c.595C>T,p.L199F |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66948172G>A,c.727C>T,p.P243S |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66948130G>A,c.769C>T,p.H257Y |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66947138G>A,c.950C>T,p.A317V |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66946471G>A,c.1295C>T,p.T432M |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66945947C>T,c.1645G>A,p.A549T |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66945943G>A,c.1649C>T,p.T550M |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66944381G>A,c.1949C>T,p.A650V |
| CDH16(NM_004062,cadherin 16, KSP-cadherin,829aa) | g.16:66942330G>A,c.2455C>T,p.P819S |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89261482C>A,c.2364C>A,p.Y788X |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89261471G>A,c.2353G>A,p.G785R |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89261442G>A,c.2324G>A,p.R775Q |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89259988G>A,c.1966G>A,p.E656K |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89258747A>C,c.1750A>C,p.K584Q |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89258633C>T,c.1636C>T,p.P546S |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89256883C>T,c.1211C>T,p.T404I |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89256733del,c.1061del,p.354fs |
| CDH15(NM_004933,cadherin 15, type 1, M-cadherin (myotubule),814aa) | g.16:89249987C>T,c.389C>T,p.S130F |