COL3A1 collagen type III alpha 1 chain

Canonical transcript: NM_000090

282 unique variant annotations were identified in 163 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-189839242-C-T c.27C>T p.Ser9Ser Synonymous 1/51 - 1
2-189839252-CT-GC c.37_38delinsGC p.Leu13Ala Missense 1/51 - 2
2-189839257-T-A c.42T>A p.Ala14Ala Synonymous 1/51 - 1
2-189839257-T-C c.42T>C p.Ala14Ala Synonymous 1/51 - 1
2-189839257-T-G c.42T>G p.Ala14Ala Synonymous 1/51 - 1
2-189839284-A-C c.69A>C p.Ala23Ala Synonymous 1/51 - 1
2-189839284-A-G c.69A>G p.Ala23Ala Synonymous 1/51 - 1
2-189839284-A-T c.69A>T p.Ala23Ala Synonymous 1/51 - 1
2-189839289-A-G c.74A>G p.Gln25Arg Missense 1/51 - 1
2-189841052-T-C c.79+1758T>C - IntronicSNV - 1/50 1
2-189841613-A-G c.79+2319A>G - IntronicSNV - 1/50 4
2-189841753-C-A c.79+2459C>A - IntronicSNV - 1/50 2
2-189842214-G-A c.79+2920G>A - IntronicSNV - 1/50 1
2-189842822-A-T c.79+3528A>T - IntronicSNV - 1/50 3
2-189844000-A-G c.79+4706A>G - IntronicSNV - 1/50 3
2-189844304-C-A c.79+5010C>A - IntronicSNV - 1/50 1
2-189845515-A-C c.80-3971A>C - IntronicSNV - 1/50 3
2-189845515-A-G c.80-3971A>G - IntronicSNV - 1/50 3
2-189848384-T-A c.80-1102T>A - IntronicSNV - 1/50 2
2-189848468-T-C c.80-1018T>C - IntronicSNV - 1/50 2
2-189849330-A-G c.80-156A>G - IntronicSNV - 1/50 2
2-189849536-G-A c.130G>A p.Val44Ile Missense 2/51 - 1
2-189849551-C-A c.145C>A p.Pro49Thr Missense 2/51 - 1
2-189849551-C-G c.145C>G p.Pro49Ala Missense 2/51 - 1
2-189849632-A-G c.226A>G p.Asn76Asp Missense 2/51 - 1
2-189849642-T-A c.236T>A p.Ile79Asn Missense 2/51 - 1
2-189849672-C-T c.266C>T p.Pro89Leu Missense 2/51 - 1
2-189849773-A-G c.282+85A>G - IntronicSNV - 2/50 3
2-189849935-C-T c.295C>T p.Pro99Ser Missense 3/51 - 1
2-189849958-GCCCCAAGG-G c.318_325del p.Pro107Argfs*13 Frameshift 3/51 - 1
2-189850427-G-C c.370G>C p.Gly124Arg Missense 4/51 - 1
2-189850461-C-A c.404C>A p.Pro135His Missense 4/51 - 1
2-189850463-G-C c.406G>C p.Gly136Arg Missense 4/51 - 1
2-189850470-CC-C c.413del p.Pro138Leufs*27 Frameshift 4/51 - 1
2-189850485-C-T c.428C>T p.Ser143Leu Missense 4/51 - 1
2-189850580-G-A c.447+76G>A - IntronicSNV - 4/50 1
2-189850694-T-C c.447+190T>C - IntronicSNV - 4/50 2
2-189851792-C-T c.455C>T p.Ser152Phe Missense 5/51 - 1
2-189851795-C-T c.458C>T p.Pro153Leu Missense 5/51 - 1
2-189851816-T-TT c.479dup p.Lys161Glnfs*45 Frameshift 5/51 - 3
2-189851842-C-T c.505C>T p.Leu169Phe Missense 5/51 - 2
2-189851857-GGA-TGT c.520_522delinsTGT p.Gly174Cys Missense 5/51 - 2
2-189852115-T-A c.528+250T>A - IntronicSNV - 5/50 3
2-189852115-T-C c.528+250T>C - IntronicSNV - 5/50 3
2-189852809-C-A c.531C>A p.Gly177Gly Synonymous 6/51 - 1
2-189852809-C-G c.531C>G p.Gly177Gly Synonymous 6/51 - 1
2-189852809-C-T c.531C>T p.Gly177Gly Synonymous 6/51 - 1
2-189852833-CT-C c.555del p.Gly186Valfs*36 Frameshift 6/51 - 2
2-189852853-G-A c.575G>A p.Gly192Asp Missense 6/51 - 1
2-189853353-G-C c.620G>C p.Gly207Ala Missense 7/51 - 1
2-189854132-G-C c.647G>C p.Gly216Ala Missense 8/51 - 1
2-189854150-G-A c.665G>A p.Gly222Asp Missense 8/51 - 2
2-189854167-G-A c.682G>A p.Gly228Arg Missense 8/51 - 1
2-189854348-T-A c.690+173T>A - IntronicSNV - 8/50 2
2-189854349-T-C c.690+174T>C - IntronicSNV - 8/50 2
2-189854746-G-A c.691-76G>A - IntronicSNV - 8/50 1
2-189854840-G-A c.709G>A p.Gly237Arg Missense 9/51 - 2
2-189854850-G-T c.719G>T p.Gly240Val Missense 9/51 - 1
2-189854858-G-A c.727G>A p.Gly243Arg Missense 9/51 - 1
2-189854867-G-A c.736G>A p.Gly246Arg Missense 9/51 - 1
2-189854870-C-T c.739C>T p.Pro247Ser Missense 9/51 - 1
2-189855042-G-C c.754G>C p.Gly252Arg Missense 10/51 - 1
2-189855043-G-T c.755G>T p.Gly252Val Missense 10/51 - 3
2-189855166-A-G c.798+80A>G - IntronicSNV - 10/50 1
2-189855729-G-A c.799-1G>A - IntronicSNV - 10/50 1
2-189855742-C-T c.811C>T p.Arg271* Nonsense 11/51 - 3
2-189855743-G-A c.812G>A p.Arg271Gln Missense 11/51 - 8
2-189855752-A-G c.821A>G p.Glu274Gly Missense 11/51 - 1
2-189855757-G-A c.826G>A p.Gly276Ser Missense 11/51 - 1
2-189855943-G-A c.852+160G>A - IntronicSNV - 11/50 5
2-189856086-A-G c.853-127A>G - IntronicSNV - 11/50 2
2-189856222-G-T c.862G>T p.Gly288Cys Missense 12/51 - 1
2-189856255-A-G c.895A>G p.Met299Val Missense 12/51 - 1
2-189856258-G-A c.897+1G>A - IntronicSNV - 12/50 1
2-189856381-A-G c.898-14A>G - IntronicSNV - 12/50 1
2-189856394-G-C c.898-1G>C - IntronicSNV - 12/50 2
2-189856449-G-A c.951+1G>A - IntronicSNV - 13/50 2
2-189856453-G-A c.951+5G>A - IntronicSNV - 13/50 1
2-189856454-T-C c.951+6T>C - IntronicSNV - 13/50 1
2-189856671-C-T c.951+223C>T - IntronicSNV - 13/50 4
2-189856804-TACTTGAAGAAAACTCAACTCACTTGAGTCAGAATTTTGGTCAAAATATTACTCATGACC-T c.952-105_952-47del - Unclassified - 13/50 1
2-189856928-G-A c.970G>A p.Gly324Ser Missense 14/51 - 4
2-189856929-G-A c.971G>A p.Gly324Asp Missense 14/51 - 1
2-189856935-G-A c.977G>A p.Arg326Gln Missense 14/51 - 1
2-189857654-C-T c.1038C>T p.Ser346Ser Synonymous 15/51 - 1
2-189857993-T-C c.1051-94T>C - IntronicSNV - 15/50 3
2-189858169-G-A c.1133G>A p.Gly378Asp Missense 16/51 - 1
2-189858779-A-T c.1165A>T p.Asn389Tyr Missense 17/51 - 2
2-189858792-G-A c.1178G>A p.Gly393Asp Missense 17/51 - 1
2-189858969-G-A c.1204G>A p.Gly402Ser Missense 18/51 - 1
2-189859006-G-T c.1241G>T p.Gly414Val Missense 18/51 - 1
2-189859022-C-A c.1257C>A p.Ala419Ala Synonymous 18/51 - 1
2-189859022-C-G c.1257C>G p.Ala419Ala Synonymous 18/51 - 1
2-189859022-C-T c.1257C>T p.Ala419Ala Synonymous 18/51 - 1
2-189859023-G-C c.1258G>C p.Gly420Arg Missense 18/51 - 1
2-189859051-G-C c.1286G>C p.Gly429Ala Missense 18/51 - 1
2-189859073-T-A c.1293+15T>A - IntronicSNV - 18/50 1
2-189859300-C-T c.1327C>T p.Pro443Ser Missense 19/51 - 1
2-189859303-G-A c.1330G>A p.Gly444Arg Missense 19/51 - 1
2-189859310-G-A c.1337G>A p.Arg446His Missense 19/51 - 1
2-189859313-G-A c.1340G>A p.Gly447Asp Missense 19/51 - 1
2-189859321-G-A c.1347+1G>A - IntronicSNV - 19/50 2
2-189859547-C-T c.1445C>T p.Ala482Val Missense 20/51 - 1
2-189859787-C-T c.1471C>T p.Arg491* Nonsense 21/51 - 1
2-189859788-G-A c.1472G>A p.Arg491Gln Missense 21/51 - 1
2-189859802-C-T c.1486C>T p.Pro496Ser Missense 21/51 - 1
2-189859809-G-A c.1493G>A p.Gly498Asp Missense 21/51 - 1
2-189859817-G-A c.1501G>A p.Gly501Arg Missense 21/51 - 1
2-189859818-G-C c.1502G>C p.Gly501Ala Missense 21/51 - 1
2-189859908-C-T c.1509+83C>T - IntronicSNV - 21/50 1
2-189860128-C-T c.1510-290C>T - IntronicSNV - 21/50 2
2-189860144-G-T c.1510-274G>T - IntronicSNV - 21/50 2
2-189860434-G-A c.1526G>A p.Arg509His Missense 22/51 - 1
2-189860451-G-A c.1543G>A p.Ala515Thr Missense 22/51 - 1
2-189860458-C-T c.1550C>T p.Pro517Leu Missense 22/51 - 2
2-189860630-A-C c.1608+114A>C - IntronicSNV - 22/50 4
2-189860657-A-G c.1608+141A>G - IntronicSNV - 22/50 2
2-189860792-T-C c.1609-59T>C - IntronicSNV - 22/50 2
2-189860872-G-C c.1630G>C p.Gly544Arg Missense 23/51 - 1
2-189860901-T-A c.1659T>A p.Pro553Pro Synonymous 23/51 - 1
2-189860901-T-C c.1659T>C p.Pro553Pro Synonymous 23/51 - 1
2-189860901-T-G c.1659T>G p.Pro553Pro Synonymous 23/51 - 1
2-189860905-G-A c.1662+1G>A - IntronicSNV - 23/50 3
2-189861029-T-TCAC c.1663-95_1663-94insCAC - IntronicInsertion - 23/50 1
2-189861031-T-C c.1663-93T>C - IntronicSNV - 23/50 1
2-189861145-C-T c.1684C>T p.Arg562* Nonsense 24/51 - 1
2-189861158-C-T c.1697C>T p.Pro566Leu Missense 24/51 - 1
2-189861205-G-A c.1744G>A p.Gly582Ser Missense 24/51 - 1
2-189861223-G-A c.1761+1G>A - IntronicSNV - 24/50 1
2-189861396-T-A c.1761+174T>A - IntronicSNV - 24/50 1
2-189861915-C-T c.1786C>T p.Arg596* Nonsense 25/51 - 1
2-189861933-C-A c.1804C>A p.Pro602Thr Missense 25/51 - 5
2-189861933-C-G c.1804C>G p.Pro602Ala Missense 25/51 - 2
2-189861947-TA-T c.1815+3del - IntronicDeletion - 25/50 1
2-189861949-G-A c.1815+5G>A - IntronicSNV - 25/50 2
2-189861962-A-G c.1815+18A>G - IntronicSNV - 25/50 1
2-189862081-G-A c.1835G>A p.Gly612Asp Missense 26/51 - 2
2-189862097-G-A c.1851G>A p.Gln617Gln Synonymous 26/51 - 4
2-189862102-C-T c.1856C>T p.Pro619Leu Missense 26/51 - 1
2-189862105-C-T c.1859C>T p.Pro620Leu Missense 26/51 - 1
2-189862110-C-T c.1864C>T p.Pro622Ser Missense 26/51 - 1
2-189862352-G-A c.1870-74G>A - IntronicSNV - 26/50 2
2-189862454-G-T c.1898G>T p.Gly633Val Missense 27/51 - 1
2-189862808-A-C c.1924-184A>C - IntronicSNV - 27/50 1
2-189862890-G-A c.1924-102G>A - IntronicSNV - 27/50 1
2-189862890-G-C c.1924-102G>C - IntronicSNV - 27/50 1
2-189862995-T-C c.1927T>C p.Leu643Leu Synonymous 28/51 - 2
2-189863044-C-T c.1976C>T p.Pro659Leu Missense 28/51 - 1
2-189863389-C-T c.1978-11C>T - IntronicSNV - 28/50 1
2-189863424-C-A c.2002C>A p.Pro668Thr Missense 29/51 - 2
2-189864023-G-A c.2035G>A p.Ala679Thr Missense 30/51 - 5
2-189864038-G-A c.2050G>A p.Gly684Arg Missense 30/51 - 1
2-189864038-G-C c.2050G>C p.Gly684Arg Missense 30/51 - 1
2-189864080-G-A c.2092G>A p.Ala698Thr Missense 30/51 - 28
2-189864083-G-C c.2095G>C p.Gly699Arg Missense 30/51 - 1
2-189864096-C-T c.2108C>T p.Pro703Leu Missense 30/51 - 1
2-189864098-G-A c.2110G>A p.Glu704Lys Missense 30/51 - 1
2-189864197-G-A c.2123G>A p.Gly708Asp Missense 31/51 - 2
2-189864197-G-C c.2123G>C p.Gly708Ala Missense 31/51 - 2
2-189864197-G-T c.2123G>T p.Gly708Val Missense 31/51 - 2
2-189864224-G-A c.2150G>A p.Gly717Asp Missense 31/51 - 2
2-189864261-GA-G c.2187del p.Glu730Lysfs*61 Frameshift 31/51 - 1
2-189864269-G-T c.2195G>T p.Gly732Val Missense 31/51 - 2
2-189864296-G-A c.2222G>A p.Gly741Asp Missense 31/51 - 1
2-189864582-T-C c.2244T>C p.Gly748Gly Synonymous 32/51 - 5
2-189865225-G-T c.2283+604G>T - IntronicSNV - 32/50 1
2-189865657-G-A c.2284-466G>A - IntronicSNV - 32/50 1
2-189865657-G-T c.2284-466G>T - IntronicSNV - 32/50 1
2-189865673-G-A c.2284-450G>A - IntronicSNV - 32/50 1
2-189866124-G-A c.2285G>A p.Gly762Asp Missense 33/51 - 1
2-189866132-G-C c.2293G>C p.Gly765Arg Missense 33/51 - 1
2-189866134-GTCCTATTGGTCCTCCTGG-G c.2295_2312del p.Ile767_Pro772del InFrameDeletion 33/51 - 1
2-189866153-CCCA-C c.2314_2316del p.Pro772del InFrameDeletion 33/51 - 1
2-189866199-T-A c.2337+23T>A - IntronicSNV - 33/50 2
2-189867034-G-A c.2402G>A p.Gly801Asp Missense 35/51 - 1
2-189867042-G-A c.2410G>A p.Gly804Ser Missense 35/51 - 2
2-189867043-G-T c.2411G>T p.Gly804Val Missense 35/51 - 1
2-189867144-A-G c.2445+67A>G - IntronicSNV - 35/50 2
2-189867311-T-C c.2445+234T>C - IntronicSNV - 35/50 1
2-189867311-T-G c.2445+234T>G - IntronicSNV - 35/50 1
2-189867724-C-T c.2489C>T p.Pro830Leu Missense 36/51 - 1
2-189867729-G-A c.2494G>A p.Glu832Lys Missense 36/51 - 1
2-189867750-C-T c.2515C>T p.Pro839Ser Missense 36/51 - 1
2-189867763-G-A c.2528G>A p.Gly843Glu Missense 36/51 - 1
2-189867775-GT-AG c.2540_2541delinsAG p.Gly847Glu Missense 36/51 - 1
2-189867789-G-A c.2553+1G>A - IntronicSNV - 36/50 1
2-189867844-T-A c.2553+56T>A - IntronicSNV - 36/50 1
2-189867882-C-A c.2553+94C>A - IntronicSNV - 36/50 1
2-189867882-C-T c.2553+94C>T - IntronicSNV - 36/50 1
2-189868152-C-T c.2569C>T p.Gln857* Nonsense 37/51 - 1
2-189868381-G-A c.2608-79G>A - IntronicSNV - 37/50 2
2-189868410-C-T c.2608-50C>T - IntronicSNV - 37/50 2
2-189868717-G-A c.2671G>A p.Gly891Arg Missense 39/51 - 1
2-189868726-GG-AC c.2680_2681delinsAC p.Gly894Thr Missense 39/51 - 2
2-189868730-C-T c.2684C>T p.Pro895Leu Missense 39/51 - 1
2-189868735-G-A c.2689G>A p.Gly897Ser Missense 39/51 - 1
2-189868757-C-A c.2711C>A p.Pro904His Missense 39/51 - 1
2-189868768-G-T c.2722G>T p.Ala908Ser Missense 39/51 - 1
2-189868769-C-G c.2723C>G p.Ala908Gly Missense 39/51 - 2
2-189868769-C-T c.2723C>T p.Ala908Val Missense 39/51 - 1
2-189868781-G-A c.2735G>A p.Gly912Asp Missense 39/51 - 1
2-189868781-G-C c.2735G>C p.Gly912Ala Missense 39/51 - 1
2-189868848-G-A c.2802G>A p.Ser934Ser Synonymous 39/51 - 2
2-189868861-G-A c.2815G>A p.Gly939Ser Missense 39/51 - 1
2-189869026-G-A c.2867G>A p.Arg956Gln Missense 40/51 - 1
2-189870076-G-C c.2932G>C p.Gly978Arg Missense 41/51 - 1
2-189870085-G-A c.2941G>A p.Gly981Arg Missense 41/51 - 1
2-189870085-G-C c.2941G>C p.Gly981Arg Missense 41/51 - 1
2-189870102-C-T c.2958C>T p.Asn986Asn Synonymous 41/51 - 1
2-189870121-G-A c.2977G>A p.Gly993Ser Missense 41/51 - 1
2-189870121-G-T c.2977G>T p.Gly993Cys Missense 41/51 - 1
2-189870122-G-A c.2978G>A p.Gly993Asp Missense 41/51 - 1
2-189870140-G-A c.2996G>A p.Gly999Asp Missense 41/51 - 1
2-189870246-A-C c.3039+63A>C - IntronicSNV - 41/50 1
2-189870376-T-C c.3039+193T>C - IntronicSNV - 41/50 1
2-189870963-G-A c.3071G>A p.Arg1024Gln Missense 42/51 - 1
2-189871110-G-A c.3133G>A p.Ala1045Thr Missense 43/51 - 2
2-189871129-C-T c.3152C>T p.Pro1051Leu Missense 43/51 - 1
2-189871135-G-A c.3158G>A p.Gly1053Asp Missense 43/51 - 1
2-189871152-G-A c.3175G>A p.Gly1059Arg Missense 43/51 - 1
2-189871153-G-T c.3176G>T p.Gly1059Val Missense 43/51 - 1
2-189871475-C-G c.3202-188C>G - IntronicSNV - 43/50 1
2-189871475-C-T c.3202-188C>T - IntronicSNV - 43/50 1
2-189871573-A-G c.3202-90A>G - IntronicSNV - 43/50 2
2-189871623-G-A c.3202-40G>A - IntronicSNV - 43/50 2
2-189871627-C-T c.3202-36C>T - IntronicSNV - 43/50 2
2-189871687-C-G c.3226C>G p.Pro1076Ala Missense 44/51 - 1
2-189871688-C-T c.3227C>T p.Pro1076Leu Missense 44/51 - 1
2-189871691-G-T c.3230G>T p.Gly1077Val Missense 44/51 - 1
2-189872226-G-T c.3256G>T p.Gly1086Cys Missense 45/51 - 1
2-189872609-A-G c.3364-2A>G - IntronicSNV - 45/50 1
2-189872654-C-T c.3407C>T p.Ala1136Val Missense 46/51 - 1
2-189872657-G-A c.3410G>A p.Gly1137Asp Missense 46/51 - 1
2-189872740-G-T c.3418-21G>T - IntronicSNV - 46/50 1
2-189872773-C-T c.3430C>T p.Pro1144Ser Missense 47/51 - 1
2-189872774-C-T c.3431C>T p.Pro1144Leu Missense 47/51 - 1
2-189872789-G-A c.3446G>A p.Gly1149Asp Missense 47/51 - 1
2-189872842-G-C c.3499G>C p.Gly1167Arg Missense 47/51 - 1
2-189872851-G-A c.3508G>A p.Gly1170Ser Missense 47/51 - 1
2-189872854-G-A c.3511G>A p.Glu1171Lys Missense 47/51 - 1
2-189873649-G-A c.3526-1G>A - IntronicSNV - 47/50 1
2-189873650-G-A c.3526G>A p.Gly1176Ser Missense 48/51 - 1
2-189873668-G-A c.3544G>A p.Gly1182Arg Missense 48/51 - 1
2-189873669-G-A c.3545G>A p.Gly1182Glu Missense 48/51 - 1
2-189873669-G-T c.3545G>T p.Gly1182Val Missense 48/51 - 1
2-189873678-G-A c.3554G>A p.Gly1185Asp Missense 48/51 - 1
2-189873678-G-T c.3554G>T p.Gly1185Val Missense 48/51 - 1
2-189873687-G-A c.3563G>A p.Gly1188Glu Missense 48/51 - 1
2-189873731-G-A c.3607G>A p.Ala1203Thr Missense 48/51 - 1
2-189873737-A-G c.3613A>G p.Ile1205Val Missense 48/51 - 1
2-189873778-G-A c.3654G>A p.Pro1218Pro Synonymous 48/51 - 1
2-189873778-G-C c.3654G>C p.Pro1218Pro Synonymous 48/51 - 1
2-189873778-G-T c.3654G>T p.Pro1218Pro Synonymous 48/51 - 1
2-189873814-C-A c.3690C>A p.Asn1230Lys Missense 48/51 - 1
2-189873814-C-G c.3690C>G p.Asn1230Lys Missense 48/51 - 1
2-189873832-T-G c.3708T>G p.Thr1236Thr Synonymous 48/51 - 1
2-189873894-A-G c.3770A>G p.Asn1257Ser Missense 48/51 - 1
2-189873896-C-T c.3772C>T p.Pro1258Ser Missense 48/51 - 2
2-189873899-G-A c.3775G>A p.Ala1259Thr Missense 48/51 - 2
2-189873900-C-T c.3776C>T p.Ala1259Val Missense 48/51 - 1
2-189873932-C-A c.3808C>A p.Pro1270Thr Missense 48/51 - 1
2-189873932-C-G c.3808C>G p.Pro1270Ala Missense 48/51 - 1
2-189873942-A-G c.3818A>G p.Lys1273Arg Missense 48/51 - 4
2-189874873-C-A c.3824-31C>A - IntronicSNV - 48/50 2
2-189874873-C-G c.3824-31C>G - IntronicSNV - 48/50 2
2-189874926-C-A c.3846C>A p.Asn1282Lys Missense 49/51 - 1
2-189874926-C-G c.3846C>G p.Asn1282Lys Missense 49/51 - 1
2-189874931-G-A c.3851G>A p.Gly1284Glu Missense 49/51 - 1
2-189874949-T-C c.3869T>C p.Ile1290Thr Missense 49/51 - 1
2-189875018-A-G c.3938A>G p.Lys1313Arg Missense 49/51 - 9
2-189875092-G-A c.4011+1G>A - IntronicSNV - 49/50 1
2-189875125-A-G c.4011+34A>G - IntronicSNV - 49/50 1
2-189875237-T-G c.4012-137T>G - IntronicSNV - 49/50 1
2-189875374-T-A c.4012T>A p.Phe1338Ile Missense 50/51 - 1
2-189875383-G-A c.4021G>A p.Gly1341Ser Missense 50/51 - 1
2-189875421-T-G c.4059T>G p.His1353Gln Missense 50/51 - 2
2-189875620-G-A c.4254+4G>A - IntronicSNV - 50/50 1
2-189875695-T-G c.4254+79T>G - IntronicSNV - 50/50 1
2-189876375-A-G c.4276A>G p.Lys1426Glu Missense 51/51 - 1
2-189876393-C-T c.4294C>T p.Arg1432* Nonsense 51/51 - 2
2-189876394-G-T c.4295G>T p.Arg1432Leu Missense 51/51 - 1
2-189876418-C-T c.4319C>T p.Pro1440Leu Missense 51/51 - 2