PMID: 28002797

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget
Ashktorab, Hassan H, Mokarram, Pooneh P, Azimi, Hamed H, Olumi, Hasti H, Varma, Sudhir S, Nickerson, Michael L ML, Brim, Hassan H
2017-01-31

1850 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-7577427-G-A TP53 c.782+72C>T - IntronicSNV - 7/10
17-7579801-G-A TP53 c.74+38C>T - IntronicSNV - 2/10
17-7579801-G-T TP53 c.74+38C>A - IntronicSNV - 2/10
12-25362854-C-T KRAS c.451-9G>A - IntronicSNV - 4/4
17-7578645-C-G TP53 c.376-91G>C - IntronicSNV - 4/10
17-7578645-C-T TP53 c.376-91G>A - IntronicSNV - 4/10
3-30686414-A-G TGFBR2 c.263+7A>G - IntronicSNV - 2/6
3-30713126-T-A TGFBR2 c.455-4T>A - IntronicSNV - 3/6
3-30713126-T-C TGFBR2 c.455-4T>C - IntronicSNV - 3/6
3-30732821-C-A TGFBR2 c.1525-91C>A - IntronicSNV - 6/6
3-30733838-C-G TGFBR2 c.*747C>G - 3-UTRSNV 7/7 -
3-30733838-C-T TGFBR2 c.*747C>T - 3-UTRSNV 7/7 -
17-7576841-A-G TP53 c.993+12T>C - IntronicSNV - 9/10
5-112179909-C-A APC c.*86C>A - 3-UTRSNV 16/16 -
17-7577407-A-C TP53 c.782+92T>G - IntronicSNV - 7/10
17-7573057-G-A TP53 c.1101-49C>T - IntronicSNV - 10/10
17-7573897-T-A TP53 c.1100+30A>T - IntronicSNV - 10/10
17-7573897-T-C TP53 c.1100+30A>G - IntronicSNV - 10/10
17-7573897-T-G TP53 c.1100+30A>C - IntronicSNV - 10/10
5-112176559-T-A APC c.5268T>A p.S1756= Synonymous 16/16 -
2-48030838-A-T MSH6 c.3438+14A>T - IntronicSNV - 5/9
2-48027755-T-C MSH6 c.2633T>C p.V878A Missense 4/10 -
2-48025770-A-G MSH6 c.648A>G p.T216= Synonymous 4/10 -
2-48025770-A-T MSH6 c.648A>T p.T216= Synonymous 4/10 -
2-48025770-A-C MSH6 c.648A>C p.T216= Synonymous 4/10 -
17-7578210-T-A TP53 c.639A>T p.R213= Synonymous 6/11 -
17-7579579-C-T TP53 c.108G>A p.P36= Synonymous 4/11 -
7-140449150-T-C BRAF c.1929A>G p.G643= Synonymous 16/18 -
5-112177171-G-A APC c.5880G>A p.P1960= Synonymous 16/16 -
5-112176559-T-G APC c.5268T>G p.S1756= Synonymous 16/16 -
5-112176325-G-A APC c.5034G>A p.G1678= Synonymous 16/16 -
3-30713842-C-T TGFBR2 c.1167C>T p.N389= Synonymous 4/7 -
5-112162854-T-C APC c.1458T>C p.Y486= Synonymous 12/16 -
5-112164561-G-A APC c.1635G>A p.A545= Synonymous 14/16 -
5-112175426-G-T APC c.4135G>T p.E1379* Nonsense 16/16 -
17-7573935-A-T TP53 c.1092T>A p.A364= Synonymous 10/11 -
17-7576896-T-C TP53 c.950A>G p.Q317R Missense 9/11 -
17-7573935-A-G TP53 c.1092T>C p.A364= Synonymous 10/11 -
17-7573935-A-C TP53 c.1092T>G p.A364= Synonymous 10/11 -
2-48023115-T-C MSH6 c.540T>C p.D180= Synonymous 3/10 -
5-112102077-G-C APC c.190G>C p.G64R Missense 3/16 -
5-112173654-A-G APC c.2363A>G p.K788R Missense 16/16 -
5-112164616-C-T APC c.1690C>T p.R564* Nonsense 14/16 -
5-112102077-G-A APC c.190G>A p.G64R Missense 3/16 -
5-112178795-G-A APC c.7504G>A p.G2502S Missense 16/16 -
7-55210104-AG-CC EGFR c.214_215delAGinsCC p.R72P Missense 2/28 -
5-112178492-C-T APC c.7201C>T p.L2401= Synonymous 16/16 -
2-48026713-C-T MSH6 c.1591C>T p.P531S Missense 4/10 -
17-7577122-C-T TP53 c.816G>A p.V272= Synonymous 8/11 -
17-7577122-C-G TP53 c.816G>C p.V272= Synonymous 8/11 -
17-7577122-C-A TP53 c.816G>T p.V272= Synonymous 8/11 -
2-48027424-C-T MSH6 c.2302C>T p.P768S Missense 4/10 -
5-112174620-C-A APC c.3329C>A p.S1110* Nonsense 16/16 -
5-112164586-C-T APC c.1660C>T p.R554* Nonsense 14/16 -
2-48030588-C-T MSH6 c.3202C>T p.R1068* Nonsense 5/10 -
5-112174424-C-T APC c.3133C>T p.Q1045* Nonsense 16/16 -
5-112151261-C-T APC c.904C>T p.R302* Nonsense 9/16 -
2-48018081-A-G MSH6 c.276A>G p.P92= Synonymous 2/10 -
2-48022981-G-T MSH6 c.458-52G>T - IntronicSNV - 2/9
3-30686414-A-T TGFBR2 c.263+7A>T - IntronicSNV - 2/6
5-79950512-A-G DHFR c.1-204T>C - 5-UTRSNV 1/6 -
5-79950512-A-T DHFR c.1-204T>A - 5-UTRSNV 1/6 -
5-79950497-C-G DHFR c.1-189G>C - 5-UTRSNV 1/6 -
5-79950497-C-T DHFR c.1-189G>A - 5-UTRSNV 1/6 -
3-178866408-C-T PIK3CA c.-77+17C>T - intron_variant - 1/20
5-79950508-C-G DHFR c.1-200G>C - 5-UTRSNV 1/6 -
5-79950508-C-T DHFR c.1-200G>A - 5-UTRSNV 1/6 -
5-79950724-G-C DHFR c.1-416C>G - 5-UTRSNV 1/6 -
5-112151259-C-T APC c.902C>T p.P301L Missense 9/16 -
3-178952097-G-A PIK3CA c.3152G>A p.W1051* Nonsense 21/21 -
17-7579448-G-A TP53 c.239C>T p.P80L Missense 4/11 -
3-178921566-G-A PIK3CA c.1048G>A p.D350N Missense 5/21 -
3-178952003-G-A PIK3CA c.3058G>A p.A1020T Missense 21/21 -
18-48604665-G-A SMAD4 c.1487G>A p.R496H Missense 12/12 -
5-112175411-G-A APC c.4120G>A p.E1374K Missense 16/16 -
17-7578388-C-A TP53 c.542G>T p.R181L Missense 5/11 -
3-178952098-G-A PIK3CA c.3153G>A p.W1051* Nonsense 21/21 -
2-48030786-G-C MSH6 c.3400G>C p.G1134R Missense 5/10 -
3-178952042-C-T PIK3CA c.3097C>T p.Q1033* Nonsense 21/21 -
12-25378597-G-A KRAS c.401C>T p.A134V Missense 4/5 -
17-7578227-C-A TP53 c.622G>T p.D208Y Missense 6/11 -
3-178952115-G-A PIK3CA c.3170G>A p.W1057* Nonsense 21/21 -
3-178952116-G-A PIK3CA c.3171G>A p.W1057* Nonsense 21/21 -
17-7578498-C-A TP53 c.432G>T p.Q144H Missense 5/11 -
17-7578498-C-G TP53 c.432G>C p.Q144H Missense 5/11 -
5-112173389-G-T APC c.2098G>T p.D700Y Missense 16/16 -
2-48032125-G-T MSH6 c.3515G>T p.R1172I Missense 6/10 -
5-79950708-T-C MSH3 c.162T>C p.A54= Synonymous 1/24 -
5-79950567-G-A MSH3 c.21G>A p.A7= Synonymous 1/24 -
3-178947865-G-C PIK3CA c.2740G>C p.G914R Missense 19/21 -
5-112175348-G-T APC c.4057G>T p.E1353* Nonsense 16/16 -
7-140494209-G-A BRAF c.1039C>T p.R347* Nonsense 8/18 -
5-112174898-G-T APC c.3607G>T p.G1203* Nonsense 16/16 -
17-70117680-G-T SOX9 c.148G>T p.E50* Nonsense 1/3 -
2-48033551-C-G MSH6 c.3802-40C>G - IntronicSNV - 8/9
2-48033551-C-T MSH6 c.3802-40C>T - IntronicSNV - 8/9
18-48573689-A-G SMAD4 c.249+24A>G - IntronicSNV - 2/11
5-80021445-A-C MSH3 c.1453+61A>C - IntronicSNV - 9/23
7-140434597-G-A BRAF c.2128-27C>T - IntronicSNV - 17/17
12-25368462-C-T KRAS c.451-5617G>A - IntronicSNV - 4/4
2-48032937-T-A MSH6 c.3646+91T>A - IntronicSNV - 7/9
2-48032937-T-C MSH6 c.3646+91T>C - IntronicSNV - 7/9
2-48032937-T-G MSH6 c.3646+91T>G - IntronicSNV - 7/9
12-25378456-T-C KRAS c.450+92A>G - IntronicSNV - 4/4
3-178922430-A-G PIK3CA c.1145+54A>G - IntronicSNV - 6/20
7-140449071-C-G BRAF c.1992+16G>C - IntronicSNV - 16/17
12-25380071-T-G KRAS c.290+97A>C - IntronicSNV - 3/4
5-79950750-T-G DHFR c.1-442A>C - 5-UTRSNV 1/6 -
12-25380071-T-A KRAS c.290+97A>T - IntronicSNV - 3/4
17-7577644-C-G TP53 c.673-36G>C - IntronicSNV - 6/10
17-7577644-C-T TP53 c.673-36G>A - IntronicSNV - 6/10
5-112101970-T-C APC c.136-53T>C - IntronicSNV - 2/15
7-140477756-C-G BRAF c.1517+35G>C - IntronicSNV - 12/17
7-140449071-C-T BRAF c.1992+16G>A - IntronicSNV - 16/17
7-140477727-T-C BRAF c.1517+64A>G - IntronicSNV - 12/17
7-140476936-G-A BRAF c.1518-48C>T - IntronicSNV - 12/17
7-140507937-A-T BRAF c.609-75T>A - IntronicSNV - 4/17
17-7579473-G-C TP53 c.214C>G p.P72A Missense 4/11 -
7-140500135-C-T BRAF c.980+27G>A - IntronicSNV - 7/17
5-112175507-C-T APC c.4216C>T p.Q1406* Nonsense 16/16 -
2-48030670-G-A MSH6 c.3284G>A p.R1095H Missense 5/10 -
5-112174916-G-T APC c.3625G>T p.E1209* Nonsense 16/16 -
3-178941923-C-A PIK3CA c.2242C>A p.L748I Missense 15/21 -
5-112116558-A-G APC c.603A>G p.E201= Synonymous 6/16 -
5-79966029-G-A MSH3 c.693G>A p.P231= Synonymous 4/24 -
18-48586259-T-C SMAD4 c.928T>C p.F310L Missense 8/12 -
18-48586261-C-A SMAD4 c.930C>A p.F310L Missense 8/12 -
18-48586261-C-G SMAD4 c.930C>G p.F310L Missense 8/12 -
5-112178889-C-T APC c.7598C>T p.S2533F Missense 16/16 -
X-63410628-G-T AMER1 c.2539C>A p.H847N Missense 2/2 -
2-48030726-C-G MSH6 c.3340C>G p.L1114V Missense 5/10 -
17-7579426-T-A TP53 c.261A>T p.P87= Synonymous 4/11 -
12-25380236-A-C KRAS c.222T>G p.T74= Synonymous 3/5 -
3-178916953-A-G PIK3CA c.340A>G p.N114D Missense 2/21 -
7-140481428-T-C BRAF c.1380A>G p.G460= Synonymous 11/18 -
17-7579426-T-C TP53 c.261A>G p.P87= Synonymous 4/11 -
17-7579426-T-G TP53 c.261A>C p.P87= Synonymous 4/11 -
17-7579543-G-A TP53 c.144C>T p.D48= Synonymous 4/11 -
18-48603047-C-T SMAD4 c.1348C>T p.Q450* Nonsense 11/12 -
3-30733005-G-T TGFBR2 c.1618G>T p.E540* Nonsense 7/7 -
17-7574031-G-A TP53 c.996C>T p.I332= Synonymous 10/11 -
5-112175162-C-T APC c.3871C>T p.Q1291* Nonsense 16/16 -
5-112090719-G-C APC c.132G>C p.M44I Missense 2/16 -
5-112090719-G-A APC c.132G>A p.M44I Missense 2/16 -
5-112090719-G-T APC c.132G>T p.M44I Missense 2/16 -
7-140481393-T-C BRAF c.1415A>G p.Y472C Missense 11/18 -
17-7578223-CT-TG TP53 c.625_626delAGinsCA p.R209Q Missense 6/11 -
X-63411276-G-A AMER1 c.1891C>T p.R631* Nonsense 2/2 -
5-112175786-G-T APC c.4495G>T p.G1499* Nonsense 16/16 -
X-63410164-C-G AMER1 c.3003G>C p.M1001I Missense 2/2 -
X-63410164-C-T AMER1 c.3003G>A p.M1001I Missense 2/2 -
X-63410164-C-A AMER1 c.3003G>T p.M1001I Missense 2/2 -
X-63412095-G-A AMER1 c.1072C>T p.R358* Nonsense 2/2 -
3-178947157-G-A PIK3CA c.2593G>A p.G865S Missense 18/21 -
2-48032832-T-C MSH6 c.3632T>C p.L1211P Missense 7/10 -
5-112157594-G-T APC c.1314G>T p.M438I Missense 11/16 -
18-48581273-G-T SMAD4 c.577G>T p.E193* Nonsense 5/12 -
3-30713794-G-A TGFBR2 c.1119G>A p.M373I Missense 4/7 -
X-63410124-C-A AMER1 c.3043G>T p.E1015* Nonsense 2/2 -
5-112180921-T-C APC c.*1098T>C - 3-UTRSNV 16/16 -
3-30732970-G-A TGFBR2 c.1583G>A p.R528H Missense 7/7 -
3-30732904-C-T TGFBR2 c.1525-8C>T - IntronicSNV - 6/6
5-112181576-G-A APC c.*1753G>A - 3-UTRSNV 16/16 -
18-48586184-A-G SMAD4 c.905-52A>G - IntronicSNV - 7/11
18-48609968-A-G SMAD4 c.*5131A>G - 3-UTRSNV 12/12 -
18-48609968-A-T SMAD4 c.*5131A>T - 3-UTRSNV 12/12 -
3-178917005-A-G PIK3CA c.352+40A>G - IntronicSNV - 2/20
18-48586344-C-T SMAD4 c.955+58C>T - IntronicSNV - 8/11
5-79952426-G-C MSH3 c.358+76G>C - IntronicSNV - 2/23
5-79952426-G-T MSH3 c.358+76G>T - IntronicSNV - 2/23
5-79952426-G-A MSH3 c.358+76G>A - IntronicSNV - 2/23
5-112116632-C-T APC c.645+32C>T - IntronicSNV - 6/15
2-48025694-C-T MSH6 c.628-56C>T - IntronicSNV - 3/9
3-178952507-G-T PIK3CA c.*355G>T - IntergenicSNV 21/21 -
2-48010654-C-G MSH6 c.260+22C>G - IntronicSNV - 1/9
3-178922274-C-A PIK3CA c.1060-17C>A - IntronicSNV - 5/20
18-48610831-A-G SMAD4 c.*5994A>G - 3-UTRSNV 12/12 -
18-48610831-A-T SMAD4 c.*5994A>T - 3-UTRSNV 12/12 -
18-48610831-A-C SMAD4 c.*5994A>C - 3-UTRSNV 12/12 -
3-178922274-C-G PIK3CA c.1060-17C>G - IntronicSNV - 5/20
3-178927345-T-C PIK3CA c.1146-38T>C - IntronicSNV - 6/20
5-112181283-C-T APC c.*1460C>T - 3-UTRSNV 16/16 -
3-30735176-T-A TGFBR2 c.*2085T>A - 3-UTRSNV 7/7 -
5-112157650-C-G APC c.1370C>G p.S457* Nonsense 11/16 -
17-7577102-C-A TP53 c.836G>T p.G279V Missense 8/11 -
3-178922374-C-G PIK3CA c.1143C>G p.P381= Synonymous 6/21 -
3-178952020-C-T PIK3CA c.3075C>T p.T1025= Synonymous 21/21 -
18-48611260-G-C SMAD4 c.*6423G>C - 3-UTRSNV 12/12 -
5-112090644-G-C APC c.57G>C p.E19D Missense 2/16 -
5-112090644-G-T APC c.57G>T p.E19D Missense 2/16 -
3-178916785-C-T PIK3CA c.172C>T p.L58F Missense 2/21 -
5-112174682-C-T APC c.3391C>T p.Q1131* Nonsense 16/16 -
3-178916876-G-T PIK3CA c.263G>T p.R88L Missense 2/21 -
5-112176325-G-C APC c.5034G>C p.G1678= Synonymous 16/16 -
17-7578456-G-T TP53 c.474C>A p.R158= Synonymous 5/11 -
17-7578490-A-G TP53 c.440T>C p.V147A Missense 5/11 -
3-178919170-C-T PIK3CA c.655C>T p.Q219* Nonsense 4/21 -
18-48604664-C-T SMAD4 c.1486C>T p.R496C Missense 12/12 -
12-25378636-G-T KRAS c.362C>A p.P121H Missense 4/5 -
17-7578471-G-A TP53 c.459C>T p.P153= Synonymous 5/11 -
5-112164561-G-C APC c.1635G>C p.A545= Synonymous 14/16 -
17-7578456-G-C TP53 c.474C>G p.R158= Synonymous 5/11 -
17-7578456-G-A TP53 c.474C>T p.R158= Synonymous 5/11 -
3-178952065-G-A PIK3CA c.3120G>A p.M1040I Missense 21/21 -
3-178951977-C-T PIK3CA c.3032C>T p.P1011L Missense 21/21 -
7-140534459-G-A BRAF c.454C>T p.P152S Missense 3/18 -
18-48584814-C-T SMAD4 c.892C>T p.P298S Missense 7/12 -
5-112174751-G-T APC c.3460G>T p.E1154* Nonsense 16/16 -
18-48581223-G-A SMAD4 c.527G>A p.G176E Missense 5/12 -
5-112177171-G-C APC c.5880G>C p.P1960= Synonymous 16/16 -
X-63412059-C-T AMER1 c.1108G>A p.E370K Missense 2/2 -
3-178916948-T-A PIK3CA c.335T>A p.I112N Missense 2/21 -
5-112179753-A-G APC c.8462A>G p.D2821G Missense 16/16 -
5-112103085-G-C APC c.420G>C p.E140D Missense 4/16 -
17-7579337-C-A TP53 c.350G>T p.G117V Missense 4/11 -
5-112137024-C-T APC c.778C>T p.Q260* Nonsense 8/16 -
7-140508695-T-C BRAF c.605A>G p.D202G Missense 4/18 -
7-140501288-G-T BRAF c.784C>A p.Q262K Missense 6/18 -
3-30713691-G-T TGFBR2 c.1016G>T p.R339L Missense 4/7 -
7-140549928-G-A BRAF c.223C>T p.P75S Missense 2/18 -
5-112151233-G-T APC c.876G>T p.L292F Missense 9/16 -
5-112151233-G-C APC c.876G>C p.L292F Missense 9/16 -
3-30713505-A-G TGFBR2 c.830A>G p.K277R Missense 4/7 -
X-63411489-G-A AMER1 c.1678C>T p.R560W Missense 2/2 -
17-70120226-C-T SOX9 c.1228C>T p.Q410* Nonsense 3/3 -
18-48581285-A-G SMAD4 c.589A>G p.T197A Missense 5/12 -
5-112175630-C-T APC c.4339C>T p.Q1447* Nonsense 16/16 -
17-70119050-C-T SOX9 c.622C>T p.Q208* Nonsense 2/3 -
17-70119104-G-T SOX9 c.676G>T p.E226* Nonsense 2/3 -
17-7579567-C-G TP53 c.120G>C p.M40I Missense 4/11 -
17-7578373-T-C TP53 c.557A>G p.D186G Missense 5/11 -
17-7579567-C-T TP53 c.120G>A p.M40I Missense 4/11 -
17-7579567-C-A TP53 c.120G>T p.M40I Missense 4/11 -
2-48028063-A-G MSH6 c.2941A>G p.I981V Missense 4/10 -
3-178928068-C-G PIK3CA c.1346C>G p.P449R Missense 8/21 -
17-7579475-G-A TP53 c.212C>T p.P71L Missense 4/11 -
5-112174586-G-A APC c.3295G>A p.V1099I Missense 16/16 -
17-7572938-C-A TP53 c.1171G>T p.D391Y Missense 11/11 -
5-112175625-C-T APC c.4334C>T p.T1445I Missense 16/16 -
12-25398290-C-A KRAS c.29G>T p.G10V Missense 2/5 -
2-48028048-C-T MSH6 c.2926C>T p.R976C Missense 4/10 -
3-30733032-G-T TGFBR2 c.1645G>T p.G549W Missense 7/7 -
3-178951965-G-T PIK3CA c.3020G>T p.G1007V Missense 21/21 -
17-7572982-G-A TP53 c.1127C>T p.S376F Missense 11/11 -
17-70120477-C-A SOX9 c.1479C>A p.H493Q Missense 3/3 -
17-70120477-C-T SOX9 c.1479C>T p.H493= Synonymous 3/3 -
17-70120493-G-A SOX9 c.1495G>A p.E499K Missense 3/3 -
17-70120521-G-T SOX9 c.1523G>T p.R508L Missense 3/3 -
3-30733053-A-G TGFBR2 c.1666A>G p.K556E Missense 7/7 -
3-30733056-A-G TGFBR2 c.1669A>G p.I557V Missense 7/7 -
3-30733078-A-G TGFBR2 c.1691A>G p.N564S Missense 7/7 -
3-30733036-G-T TGFBR2 c.1649G>T p.R550M Missense 7/7 -
7-140534467-G-T BRAF c.446C>A p.P149H Missense 3/18 -
5-112179775-C-G APC c.8484C>G p.T2828= Synonymous 16/16 -
5-112179775-C-T APC c.8484C>T p.T2828= Synonymous 16/16 -
5-112179790-C-G APC c.8499C>G p.R2833= Synonymous 16/16 -
5-112179790-C-T APC c.8499C>T p.R2833= Synonymous 16/16 -
X-63409766-G-A AMER1 c.3401C>T p.A1134V Missense 2/2 -
X-63409783-G-A AMER1 c.3384C>T p.A1128= Synonymous 2/2 -
X-63409799-C-A AMER1 c.3368G>T p.S1123I Missense 2/2 -
X-63409800-T-C AMER1 c.3367A>G p.S1123G Missense 2/2 -
7-140534475-C-A BRAF c.438G>T p.R146= Synonymous 3/18 -
7-140534561-C-A BRAF c.352G>T p.D118Y Missense 3/18 -
7-140534596-C-A BRAF c.317G>T p.G106V Missense 3/18 -
7-140534603-C-T BRAF c.310G>A p.G104R Missense 3/18 -
5-112179431-C-T APC c.8140C>T p.R2714C Missense 16/16 -
17-7579910-C-T TP53 c.3G>A p.M1? Missense 2/11 -
5-112177203-C-A APC c.5912C>A p.S1971Y Missense 16/16 -
2-48025862-A-G MSH6 c.740A>G p.K247R Missense 4/10 -
7-140550001-G-T BRAF c.150C>A p.I50= Synonymous 2/18 -
7-140550001-G-A BRAF c.150C>T p.I50= Synonymous 2/18 -
5-112175217-A-G APC c.3926A>G p.E1309G Missense 16/16 -
17-7578471-G-T TP53 c.459C>A p.P153= Synonymous 5/11 -
17-7578420-C-T TP53 c.510G>A p.T170= Synonymous 5/11 -
17-7578420-C-A TP53 c.510G>T p.T170= Synonymous 5/11 -
17-7578408-C-T TP53 c.522G>A p.R174= Synonymous 5/11 -
3-30713519-G-A TGFBR2 c.844G>A p.E282K Missense 4/7 -
17-7579857-A-G TP53 c.56T>C p.F19S Missense 2/11 -
5-112175945-G-T APC c.4654G>T p.E1552* Nonsense 16/16 -
18-48604690-T-G SMAD4 c.1512T>G p.S504R Missense 12/12 -
17-7578192-G-A TP53 c.657C>T p.P219= Synonymous 6/11 -
17-7578470-C-A TP53 c.460G>T p.G154C Missense 5/11 -
5-112174241-G-A APC c.2950G>A p.E984K Missense 16/16 -
17-7573973-C-A TP53 c.1054G>T p.D352Y Missense 10/11 -
5-112154688-C-A APC c.959C>A p.S320* Nonsense 10/16 -
5-112154688-C-G APC c.959C>G p.S320* Nonsense 10/16 -
5-112179377-G-T APC c.8086G>T p.D2696Y Missense 16/16 -
5-112176702-T-A APC c.5411T>A p.V1804D Missense 16/16 -
2-48030680-C-A MSH6 c.3294C>A p.C1098* Nonsense 5/10 -
17-70119839-G-T SOX9 c.841G>T p.D281Y Missense 3/3 -
17-70119881-G-T SOX9 c.883G>T p.D295Y Missense 3/3 -
18-48603120-C-A SMAD4 c.1421C>A p.S474* Nonsense 11/12 -
2-48026025-G-T MSH6 c.903G>T p.K301N Missense 4/10 -
18-48603120-C-G SMAD4 c.1421C>G p.S474* Nonsense 11/12 -
3-178921639-C-A PIK3CA c.1059+62C>A - IntronicSNV - 5/20
3-178928310-C-T PIK3CA c.1496C>T p.S499F Missense 9/21 -
17-7579500-C-A TP53 c.187G>T p.A63S Missense 4/11 -
17-7579500-C-T TP53 c.187G>A p.A63T Missense 4/11 -
3-178922301-G-T PIK3CA c.1070G>T p.R357L Missense 6/21 -
2-48026318-C-T MSH6 c.1196C>T p.P399L Missense 4/10 -
5-80024670-G-A MSH3 c.1454G>A p.G485D Missense 10/24 -
2-48027747-G-C MSH6 c.2625G>C p.M875I Missense 4/10 -
2-48027747-G-A MSH6 c.2625G>A p.M875I Missense 4/10 -
2-48027747-G-T MSH6 c.2625G>T p.M875I Missense 4/10 -
3-178942530-G-T PIK3CA c.2337G>T p.L779= Synonymous 16/21 -
17-70119803-G-T SOX9 c.805G>T p.D269Y Missense 3/3 -
5-112175987-G-T APC c.4696G>T p.D1566Y Missense 16/16 -
3-178942530-G-C PIK3CA c.2337G>C p.L779= Synonymous 16/21 -
3-178942528-C-T PIK3CA c.2335C>T p.L779= Synonymous 16/21 -
18-48604749-G-A SMAD4 c.1571G>A p.W524* Nonsense 12/12 -
18-48604750-G-A SMAD4 c.1572G>A p.W524* Nonsense 12/12 -
17-70119806-T-C SOX9 c.808T>C p.F270L Missense 3/3 -
17-70119808-C-A SOX9 c.810C>A p.F270L Missense 3/3 -
17-70119808-C-G SOX9 c.810C>G p.F270L Missense 3/3 -
3-178942530-G-A PIK3CA c.2337G>A p.L779= Synonymous 16/21 -
7-140477847-C-T BRAF c.1461G>A p.V487= Synonymous 12/18 -
5-112177975-G-T APC c.6684G>T p.R2228S Missense 16/16 -
7-140477847-C-A BRAF c.1461G>T p.V487= Synonymous 12/18 -
5-112179351-C-T APC c.8060C>T p.S2687L Missense 16/16 -
5-112177975-G-C APC c.6684G>C p.R2228S Missense 16/16 -
17-7578420-C-G TP53 c.510G>C p.T170= Synonymous 5/11 -
7-140477847-C-G BRAF c.1461G>C p.V487= Synonymous 12/18 -
3-178919205-A-C PIK3CA c.690A>C p.R230= Synonymous 4/21 -
5-112179129-G-T APC c.7838G>T p.R2613I Missense 16/16 -
3-178916921-A-G PIK3CA c.308A>G p.E103G Missense 2/21 -
5-112179615-G-T APC c.8324G>T p.G2775V Missense 16/16 -
3-178919203-C-A PIK3CA c.688C>A p.R230= Synonymous 4/21 -
3-178919205-A-G PIK3CA c.690A>G p.R230= Synonymous 4/21 -
3-178919205-A-T PIK3CA c.690A>T p.R230= Synonymous 4/21 -
17-7579572-C-T TP53 c.115G>A p.A39T Missense 4/11 -
18-48604690-T-A SMAD4 c.1512T>A p.S504R Missense 12/12 -
18-48604688-A-C SMAD4 c.1510A>C p.S504R Missense 12/12 -
18-48575062-G-T SMAD4 c.256G>T p.G86C Missense 3/12 -
18-48573583-C-A SMAD4 c.167C>A p.S56Y Missense 2/12 -
17-7578212-G-T TP53 c.637C>A p.R213= Synonymous 6/11 -
17-7578210-T-G TP53 c.639A>C p.R213= Synonymous 6/11 -
5-112176461-C-A APC c.5170C>A p.L1724I Missense 16/16 -
17-7577482-G-A TP53 c.782+17C>T - IntronicSNV - 7/10
5-79960955-G-A MSH3 c.359-7G>A - IntronicSNV - 2/23
18-48581302-C-G SMAD4 c.606C>G p.A202= Synonymous 5/12 -
5-112175360-G-T APC c.4069G>T p.G1357* Nonsense 16/16 -
2-48028047-C-T MSH6 c.2925C>T p.N975= Synonymous 4/10 -
2-48026676-C-T MSH6 c.1554C>T p.T518= Synonymous 4/10 -
5-112154936-G-A APC c.1207G>A p.E403K Missense 10/16 -
18-48604810-G-A SMAD4 c.1632G>A p.P544= Synonymous 12/12 -
2-48033371-G-A MSH6 c.3675G>A p.T1225= Synonymous 8/10 -
2-48027615-C-T MSH6 c.2493C>T p.P831= Synonymous 4/10 -
2-48026159-C-G MSH6 c.1037C>G p.S346C Missense 4/10 -
5-112157650-C-A APC c.1370C>A p.S457* Nonsense 11/16 -
2-48026966-G-T MSH6 c.1844G>T p.C615F Missense 4/10 -
5-112173785-C-T APC c.2494C>T p.P832S Missense 16/16 -
2-48026980-G-A MSH6 c.1858G>A p.G620S Missense 4/10 -
12-25362815-G-T KRAS c.481C>A p.R161= Synonymous 5/5 -
12-25362813-T-G KRAS c.483A>C p.R161= Synonymous 5/5 -
12-25362813-T-C KRAS c.483A>G p.R161= Synonymous 5/5 -
12-25362813-T-A KRAS c.483A>T p.R161= Synonymous 5/5 -
2-48028226-G-T MSH6 c.3104G>T p.R1035L Missense 4/10 -
7-140476743-C-A BRAF c.1663G>T p.D555Y Missense 13/18 -
17-7573979-G-A TP53 c.1048C>T p.L350F Missense 10/11 -
18-48581271-C-T SMAD4 c.575C>T p.T192I Missense 5/12 -
17-7578510-G-T TP53 c.420C>A p.T140= Synonymous 5/11 -
17-7578510-G-C TP53 c.420C>G p.T140= Synonymous 5/11 -
17-7578510-G-A TP53 c.420C>T p.T140= Synonymous 5/11 -
2-48033613-G-A MSH6 c.3824G>A p.C1275Y Missense 9/10 -
17-7577068-G-T TP53 c.870C>A p.R290= Synonymous 8/11 -
17-7578192-G-T TP53 c.657C>A p.P219= Synonymous 6/11 -
17-7574031-G-T TP53 c.996C>A p.I332= Synonymous 10/11 -
17-7578528-A-G TP53 c.402T>C p.F134= Synonymous 5/11 -
17-7579507-T-G TP53 c.180A>C p.P60= Synonymous 4/11 -
17-7578519-C-G TP53 c.411G>C p.L137= Synonymous 5/11 -
18-48573423-A-G SMAD4 c.7A>G p.N3D Missense 2/12 -
5-112137040-G-A APC c.794G>A p.G265E Missense 8/16 -
5-112173928-G-C APC c.2637G>C p.Q879H Missense 16/16 -
5-112174724-G-A APC c.3433G>A p.E1145K Missense 16/16 -
5-112174620-C-G APC c.3329C>G p.S1110* Nonsense 16/16 -
18-48581268-C-T SMAD4 c.572C>T p.S191L Missense 5/12 -
5-112102939-T-C APC c.274T>C p.S92P Missense 4/16 -
2-48027103-G-T MSH6 c.1981G>T p.G661C Missense 4/10 -
5-79952154-G-A MSH3 c.238-76G>A - IntronicSNV - 1/23
7-140624426-C-A BRAF c.78G>T p.E26D Missense 1/18 -
17-70118876-G-T SOX9 c.448G>T p.E150* Nonsense 2/3 -
X-63410730-C-A AMER1 c.2437G>T p.D813Y Missense 2/2 -
3-178916821-T-C PIK3CA c.208T>C p.F70L Missense 2/21 -
3-178916823-C-A PIK3CA c.210C>A p.F70L Missense 2/21 -
3-178916823-C-G PIK3CA c.210C>G p.F70L Missense 2/21 -
18-48573461-C-A SMAD4 c.45C>A p.A15= Synonymous 2/12 -
18-48573461-C-G SMAD4 c.45C>G p.A15= Synonymous 2/12 -
18-48573461-C-T SMAD4 c.45C>T p.A15= Synonymous 2/12 -
5-112154946-T-C APC c.1217T>C p.V406A Missense 10/16 -
17-7573969-G-A TP53 c.1058C>T p.A353V Missense 10/11 -
17-7579542-C-A TP53 c.145G>T p.D49Y Missense 4/11 -
5-112176112-G-C APC c.4821G>C p.R1607S Missense 16/16 -
X-63411384-C-T AMER1 c.1783G>A p.A595T Missense 2/2 -
2-48018314-T-A MSH6 c.457+52T>A - IntronicSNV - 2/9
5-112174744-A-C APC c.3453A>C p.E1151D Missense 16/16 -
5-112174744-A-T APC c.3453A>T p.E1151D Missense 16/16 -
3-178947871-C-A PIK3CA c.2746C>A p.R916S Missense 19/21 -
5-112176325-G-T APC c.5034G>T p.G1678= Synonymous 16/16 -
5-79952321-G-T MSH3 c.329G>T p.G110V Missense 2/24 -
5-79966069-G-T MSH3 c.733G>T p.D245Y Missense 4/24 -
7-140534603-C-G BRAF c.310G>C p.G104R Missense 3/18 -
3-178942431-C-A PIK3CA c.2295-57C>A - IntronicSNV - 15/20
3-178942431-C-G PIK3CA c.2295-57C>G - IntronicSNV - 15/20
3-178942431-C-T PIK3CA c.2295-57C>T - IntronicSNV - 15/20
5-112177171-G-T APC c.5880G>T p.P1960= Synonymous 16/16 -
5-112176112-G-T APC c.4821G>T p.R1607S Missense 16/16 -
17-7577068-G-C TP53 c.870C>G p.R290= Synonymous 8/11 -
2-48027305-A-G MSH6 c.2183A>G p.K728R Missense 4/10 -
X-63412690-A-C AMER1 c.477T>G p.F159L Missense 2/2 -
17-70118937-C-T SOX9 c.509C>T p.P170L Missense 2/3 -
17-70117656-G-T SOX9 c.124G>T p.D42Y Missense 1/3 -
17-7577068-G-A TP53 c.870C>T p.R290= Synonymous 8/11 -
5-80088621-G-T MSH3 c.2613G>T p.L871= Synonymous 19/24 -
5-112177488-G-A APC c.6197G>A p.R2066K Missense 16/16 -
X-63412134-C-T AMER1 c.1033G>A p.A345T Missense 2/2 -
5-79950622-C-T MSH3 c.76C>T p.R26* Nonsense 1/24 -
17-70117808-G-T SOX9 c.276G>T p.P92= Synonymous 1/3 -
5-80088621-G-A MSH3 c.2613G>A p.L871= Synonymous 19/24 -
5-80088621-G-C MSH3 c.2613G>C p.L871= Synonymous 19/24 -
5-80088619-C-T MSH3 c.2611C>T p.L871= Synonymous 19/24 -
5-79965977-A-G MSH3 c.641A>G p.Q214R Missense 4/24 -
18-48581197-G-C SMAD4 c.501G>C p.E167D Missense 5/12 -
17-70119830-C-T SOX9 c.832C>T p.L278= Synonymous 3/3 -
3-178951961-C-A PIK3CA c.3016C>A p.L1006I Missense 21/21 -
5-80171579-C-G MSH3 c.3312C>G p.L1104= Synonymous 24/24 -
2-48027877-G-T MSH6 c.2755G>T p.E919* Nonsense 4/10 -
5-112173976-A-G APC c.2685A>G p.S895= Synonymous 16/16 -
3-178927461-T-C PIK3CA c.1224T>C p.S408= Synonymous 7/21 -
3-178922344-G-A PIK3CA c.1113G>A p.V371= Synonymous 6/21 -
7-140482864-C-A BRAF c.1271G>T p.R424L Missense 10/18 -
5-112173261-G-A APC c.1970G>A p.R657K Missense 16/16 -
7-140501309-G-T BRAF c.763C>A p.L255I Missense 6/18 -
3-178917631-C-A PIK3CA c.506C>A p.P169Q Missense 3/21 -
3-178919320-C-A PIK3CA c.805C>A p.Q269K Missense 4/21 -
18-48575095-C-A SMAD4 c.289C>A p.R97S Missense 3/12 -
5-79950718-G-C MSH3 c.172G>C p.A58P Missense 1/24 -
5-79950733-C-G MSH3 c.187C>G p.P63A Missense 1/24 -
18-48581301-C-T SMAD4 c.605C>T p.A202V Missense 5/12 -
18-48593502-C-T SMAD4 c.1253C>T p.A418V Missense 10/12 -
7-140549981-G-A BRAF c.170C>T p.T57I Missense 2/18 -
3-178916940-A-G PIK3CA c.327A>G p.E109= Synonymous 2/21 -
5-112090649-C-G APC c.62C>G p.S21* Nonsense 2/16 -
5-79968496-C-T MSH3 c.910-64C>T - IntronicSNV - 5/23
5-79952165-C-G MSH3 c.238-65C>G - IntronicSNV - 1/23
5-79968454-A-G MSH3 c.910-106A>G - IntronicSNV - 5/23
3-178928038-G-T PIK3CA c.1316G>T p.G439V Missense 8/21 -
2-48032166-G-A MSH6 c.3556G>A p.G1186S Missense 6/10 -
5-112173965-G-T APC c.2674G>T p.E892* Nonsense 16/16 -
X-63412996-C-T AMER1 c.171G>A p.M57I Missense 2/2 -
17-70118935-C-T SOX9 c.507C>T p.H169= Synonymous 2/3 -
3-178919314-C-T PIK3CA c.799C>T p.L267= Synonymous 4/21 -
5-80109535-G-T MSH3 c.2788G>T p.G930W Missense 20/24 -
5-112176278-G-T APC c.4987G>T p.E1663* Nonsense 16/16 -
5-112174488-G-T APC c.3197G>T p.R1066I Missense 16/16 -
5-80083390-C-G MSH3 c.2442C>G p.F814L Missense 18/24 -
5-112176719-G-T APC c.5428G>T p.D1810Y Missense 16/16 -
5-112170757-G-A APC c.1853G>A p.G618D Missense 15/16 -
X-63412951-G-C AMER1 c.216C>G p.F72L Missense 2/2 -
5-112128224-G-A APC c.727G>A p.E243K Missense 7/16 -
X-63410102-C-T AMER1 c.3065G>A p.R1022H Missense 2/2 -
X-63412244-G-T AMER1 c.923C>A p.P308Q Missense 2/2 -
5-112173713-G-T APC c.2422G>T p.D808Y Missense 16/16 -
5-112174434-G-T APC c.3143G>T p.R1048I Missense 16/16 -
17-70118911-G-A SOX9 c.483G>A p.L161= Synonymous 2/3 -
5-112173872-G-T APC c.2581G>T p.G861C Missense 16/16 -
X-63412008-C-T AMER1 c.1159G>A p.E387K Missense 2/2 -
17-7578410-T-G TP53 c.520A>C p.R174= Synonymous 5/11 -
X-63409938-G-A AMER1 c.3229C>T p.P1077S Missense 2/2 -
5-112102927-C-T APC c.262C>T p.R88W Missense 4/16 -
18-48573571-A-G SMAD4 c.155A>G p.D52G Missense 2/12 -
5-112154867-C-T APC c.1138C>T p.R380W Missense 10/16 -
5-80074624-G-T MSH3 c.2404G>T p.D802Y Missense 17/24 -
3-178928050-T-C PIK3CA c.1328T>C p.L443S Missense 8/21 -
5-112176224-G-T APC c.4933G>T p.E1645* Nonsense 16/16 -
18-48575066-G-A SMAD4 c.260G>A p.R87Q Missense 3/12 -
5-112162807-G-A APC c.1411G>A p.G471R Missense 12/16 -
3-178951920-G-T PIK3CA c.2975G>T p.R992L Missense 21/21 -
5-112102969-T-C APC c.304T>C p.S102P Missense 4/16 -
17-7578471-G-C TP53 c.459C>G p.P153= Synonymous 5/11 -
18-48604783-C-T SMAD4 c.1605C>T p.L535= Synonymous 12/12 -
18-48604783-C-G SMAD4 c.1605C>G p.L535= Synonymous 12/12 -
18-48604783-C-A SMAD4 c.1605C>A p.L535= Synonymous 12/12 -
5-112162807-G-C APC c.1411G>C p.G471R Missense 12/16 -
3-30686361-A-G TGFBR2 c.217A>G p.I73V Missense 2/7 -
5-79966197-G-A MSH3 c.792+69G>A - IntronicSNV - 4/23
X-63411122-G-A AMER1 c.2045C>T p.T682I Missense 2/2 -
7-140534641-G-A BRAF c.272C>T p.A91V Missense 3/18 -
2-48026360-G-A MSH6 c.1238G>A p.W413* Nonsense 4/10 -
2-48026361-G-A MSH6 c.1239G>A p.W413* Nonsense 4/10 -
X-63412200-C-T AMER1 c.967G>A p.D323N Missense 2/2 -
2-48030675-C-T MSH6 c.3289C>T p.P1097S Missense 5/10 -
2-48025889-G-A MSH6 c.767G>A p.S256N Missense 4/10 -
18-48584505-C-T SMAD4 c.678C>T p.A226= Synonymous 6/12 -
3-30648443-C-T TGFBR2 c.68C>T p.T23M Missense 1/7 -
12-25398316-C-T KRAS c.3G>A p.M1? Missense 2/5 -
2-48033636-A-G MSH6 c.3847A>G p.I1283V Missense 9/10 -
2-48010445-G-A MSH6 c.73G>A p.A25T Missense 1/10 -
18-48584725-G-T SMAD4 c.803G>T p.W268L Missense 7/12 -
3-178921476-G-A PIK3CA c.958G>A p.G320R Missense 5/21 -
2-48025798-G-T MSH6 c.676G>T p.E226* Nonsense 4/10 -
2-48030646-C-T MSH6 c.3260C>T p.P1087L Missense 5/10 -
2-48025906-G-T MSH6 c.784G>T p.D262Y Missense 4/10 -
5-112173368-A-T APC c.2077A>T p.K693* Nonsense 16/16 -
2-48032754-A-T MSH6 c.3557-3A>T - IntronicSNV - 6/9
17-7578521-G-A TP53 c.409C>T p.L137= Synonymous 5/11 -
3-178916920-G-A PIK3CA c.307G>A p.E103K Missense 2/21 -
12-25378658-C-T KRAS c.340G>A p.V114I Missense 4/5 -
17-7572943-C-A TP53 c.1166G>T p.G389V Missense 11/11 -
7-140494208-C-A BRAF c.1040G>T p.R347L Missense 8/18 -
X-63411438-G-A AMER1 c.1729C>T p.Q577* Nonsense 2/2 -
17-7579341-A-G TP53 c.346T>C p.S116P Missense 4/11 -
X-63410388-C-T AMER1 c.2779G>A p.D927N Missense 2/2 -
5-112176816-C-T APC c.5525C>T p.S1842L Missense 16/16 -
5-112175682-A-G APC c.4391A>G p.E1464G Missense 16/16 -
7-140501295-G-C BRAF c.777C>G p.F259L Missense 6/18 -
7-140453164-T-C BRAF c.1771A>G p.K591E Missense 15/18 -
5-112173848-G-A APC c.2557G>A p.E853K Missense 16/16 -
X-63409901-C-A AMER1 c.3266G>T p.R1089M Missense 2/2 -
X-63411079-C-G AMER1 c.2088G>C p.R696S Missense 2/2 -
3-178947872-G-A PIK3CA c.2747G>A p.R916H Missense 19/21 -
18-48604658-G-A SMAD4 c.1480G>A p.D494N Missense 12/12 -
X-63412872-G-T AMER1 c.295C>A p.L99M Missense 2/2 -
X-63411366-G-A AMER1 c.1801C>T p.R601* Nonsense 2/2 -
X-63412109-C-T AMER1 c.1058G>A p.R353Q Missense 2/2 -
X-63412535-G-A AMER1 c.632C>T p.A211V Missense 2/2 -
X-63410058-G-A AMER1 c.3109C>T p.Q1037* Nonsense 2/2 -
X-63413106-G-C AMER1 c.61C>G p.R21G Missense 2/2 -
X-63410348-C-T AMER1 c.2819G>A p.W940* Nonsense 2/2 -
X-63410598-G-A AMER1 c.2569C>T p.R857* Nonsense 2/2 -
5-112173877-C-G APC c.2586C>G p.N862K Missense 16/16 -
5-112170811-G-A APC c.1907G>A p.G636D Missense 15/16 -
3-30713833-C-T TGFBR2 c.1158C>T p.L386= Synonymous 4/7 -
2-48028015-AGG-CAT MSH6 c.2893_2895delAGGinsCAT p.R965H Missense 4/10 -
5-80088610-G-A MSH3 c.2602G>A p.D868N Missense 19/24 -
18-48573557-G-T SMAD4 c.141G>T p.L47= Synonymous 2/12 -
18-48573557-G-A SMAD4 c.141G>A p.L47= Synonymous 2/12 -
18-48573557-G-C SMAD4 c.141G>C p.L47= Synonymous 2/12 -
18-48573555-C-T SMAD4 c.139C>T p.L47= Synonymous 2/12 -
3-30686252-G-C TGFBR2 c.108G>C p.M36I Missense 2/7 -
5-112170696-C-T APC c.1792C>T p.H598Y Missense 15/16 -
X-63410360-T-C AMER1 c.2807A>G p.E936G Missense 2/2 -
5-112175606-C-T APC c.4315C>T p.P1439S Missense 16/16 -
X-63410347-C-T AMER1 c.2820G>A p.W940* Nonsense 2/2 -
18-48604760-C-T SMAD4 c.1582C>T p.H528Y Missense 12/12 -
5-112176194-G-A APC c.4903G>A p.G1635R Missense 16/16 -
5-112176194-G-C APC c.4903G>C p.G1635R Missense 16/16 -
5-112137030-G-T APC c.784G>T p.E262* Nonsense 8/16 -
5-80021296-C-T MSH3 c.1365C>T p.V455= Synonymous 9/24 -
17-7579369-G-A TP53 c.318C>T p.S106= Synonymous 4/11 -
7-140482896-C-T BRAF c.1239G>A p.V413= Synonymous 10/18 -
7-140482896-C-G BRAF c.1239G>C p.V413= Synonymous 10/18 -
7-140482896-C-A BRAF c.1239G>T p.V413= Synonymous 10/18 -
3-30713741-C-T TGFBR2 c.1066C>T p.R356W Missense 4/7 -
18-48584572-C-T SMAD4 c.745C>T p.Q249* Nonsense 6/12 -
X-63410110-T-C AMER1 c.3057A>G p.Q1019= Synonymous 2/2 -
17-70119991-G-A SOX9 c.993G>A p.A331= Synonymous 3/3 -
17-70119991-G-C SOX9 c.993G>C p.A331= Synonymous 3/3 -
17-70119991-G-T SOX9 c.993G>T p.A331= Synonymous 3/3 -
17-7578192-G-C TP53 c.657C>G p.P219= Synonymous 6/11 -
17-7577500-T-C TP53 c.781A>G p.S261G Missense 7/11 -
7-140482927-G-A BRAF c.1208C>T p.P403L Missense 10/18 -
5-112175609-C-T APC c.4318C>T p.P1440S Missense 16/16 -
7-140453171-G-A BRAF c.1764C>T p.L588= Synonymous 15/18 -
7-140453171-G-C BRAF c.1764C>G p.L588= Synonymous 15/18 -
7-140453171-G-T BRAF c.1764C>A p.L588= Synonymous 15/18 -
5-80021292-G-A MSH3 c.1361G>A p.R454Q Missense 9/24 -
2-48018254-C-T MSH6 c.449C>T p.P150L Missense 2/10 -
5-112174307-C-A APC c.3016C>A p.H1006N Missense 16/16 -
5-112178013-C-T APC c.6722C>T p.S2241L Missense 16/16 -
7-140439713-G-A BRAF c.2026C>T p.P676S Missense 17/18 -
18-48581269-G-A SMAD4 c.573G>A p.S191= Synonymous 5/12 -
3-178951994-G-T PIK3CA c.3049G>T p.D1017Y Missense 21/21 -
X-63411363-C-A AMER1 c.1804G>T p.E602* Nonsense 2/2 -
2-48026062-A-G MSH6 c.940A>G p.S314G Missense 4/10 -
X-63410133-C-T AMER1 c.3034G>A p.A1012T Missense 2/2 -
X-63411169-C-T AMER1 c.1998G>A p.L666= Synonymous 2/2 -
X-63411537-G-A AMER1 c.1630C>T p.P544S Missense 2/2 -
X-63410150-G-A AMER1 c.3017C>T p.S1006L Missense 2/2 -
X-63412499-G-A AMER1 c.668C>T p.A223V Missense 2/2 -
2-48032814-C-T MSH6 c.3614C>T p.T1205I Missense 7/10 -
17-70119946-G-A SOX9 c.948G>A p.T316= Synonymous 3/3 -
5-112177309-C-T APC c.6018C>T p.G2006= Synonymous 16/16 -
5-112177309-C-G APC c.6018C>G p.G2006= Synonymous 16/16 -
5-112177309-C-A APC c.6018C>A p.G2006= Synonymous 16/16 -
17-7579910-C-A TP53 c.3G>T p.M1? Missense 2/11 -
17-7578519-C-A TP53 c.411G>T p.L137= Synonymous 5/11 -
5-112176378-G-A APC c.5087G>A p.S1696N Missense 16/16 -
5-112102963-G-T APC c.298G>T p.E100* Nonsense 4/16 -
18-48573540-A-G SMAD4 c.124A>G p.S42G Missense 2/12 -
3-178919290-G-T PIK3CA c.775G>T p.E259* Nonsense 4/21 -
3-178927982-T-C PIK3CA c.1260T>C p.C420= Synonymous 8/21 -
17-7572995-T-A TP53 c.782+4504A>T p.K372* UnclassifiedSNV 11/11 -
5-80024750-G-T MSH3 c.1534G>T p.E512* Nonsense 10/24 -
2-48028032-G-C MSH6 c.2910G>C p.W970C Missense 4/10 -
18-48591943-A-G SMAD4 c.1106A>G p.N369S Missense 9/12 -
3-178942606-G-A PIK3CA c.2413G>A p.D805N Missense 16/21 -
2-48026057-G-A MSH6 c.935G>A p.R312K Missense 4/10 -
5-112090624-G-A APC c.37G>A p.V13I Missense 2/16 -
3-30713586-T-C TGFBR2 c.911T>C p.I304T Missense 4/7 -
5-112175585-C-T APC c.4294C>T p.P1432S Missense 16/16 -
X-63412532-G-A AMER1 c.635C>T p.P212L Missense 2/2 -
3-178928257-C-T PIK3CA c.1443C>T p.S481= Synonymous 9/21 -
7-140454004-C-T BRAF c.1724G>A p.R575K Missense 14/18 -
5-112176101-C-T APC c.4810C>T p.P1604S Missense 16/16 -
X-63412102-C-A AMER1 c.1065G>T p.G355= Synonymous 2/2 -
5-112174993-T-C APC c.3702T>C p.S1234= Synonymous 16/16 -
7-140434586-G-A BRAF c.2128-16C>T - IntronicSNV - 17/17
7-140434586-G-T BRAF c.2128-16C>A - IntronicSNV - 17/17
3-30715713-G-C TGFBR2 c.1371G>C p.M457I Missense 5/7 -
3-30715713-G-A TGFBR2 c.1371G>A p.M457I Missense 5/7 -
3-30715713-G-T TGFBR2 c.1371G>T p.M457I Missense 5/7 -
5-79974759-C-T MSH3 c.1187C>T p.A396V Missense 8/24 -
5-79968692-C-T MSH3 c.1027+15C>T - IntronicSNV - 6/23
X-63409783-G-T AMER1 c.3384C>A p.A1128= Synonymous 2/2 -
X-63409783-G-C AMER1 c.3384C>G p.A1128= Synonymous 2/2 -
X-63409995-G-A AMER1 c.3172C>T p.P1058S Missense 2/2 -
7-140494255-G-A BRAF c.993C>T p.L331= Synonymous 8/18 -
5-80024608-A-G MSH3 c.1454-62A>G - IntronicSNV - 9/23
7-140434620-A-G BRAF c.2128-50T>C - IntronicSNV - 17/17
18-48586244-C-T SMAD4 c.913C>T p.H305Y Missense 8/12 -
5-112157594-G-A APC c.1314G>A p.M438I Missense 11/16 -
3-30713444-G-A TGFBR2 c.769G>A p.E257K Missense 4/7 -
18-48573532-C-T SMAD4 c.116C>T p.A39V Missense 2/12 -
2-48032105-C-T MSH6 c.3495C>T p.C1165= Synonymous 6/10 -
X-63410060-A-G AMER1 c.3107T>C p.L1036P Missense 2/2 -
18-48604769-C-A SMAD4 c.1591C>A p.R531= Synonymous 12/12 -
5-112175306-GGT-TGA APC c.4015_4017delGGTinsTGA p.G1339* Nonsense 16/16 -
3-30713768-C-G TGFBR2 c.1093C>G p.H365D Missense 4/7 -
3-30713523-A-G TGFBR2 c.848A>G p.E283G Missense 4/7 -
3-30713759-C-T TGFBR2 c.1084C>T p.H362Y Missense 4/7 -
3-30713670-A-G TGFBR2 c.995A>G p.N332S Missense 4/7 -
3-30713765-G-A TGFBR2 c.1090G>A p.D364N Missense 4/7 -
3-30715697-T-G TGFBR2 c.1355T>G p.L452R Missense 5/7 -
3-30713792-A-G TGFBR2 c.1117A>G p.M373V Missense 4/7 -
3-30713821-C-G TGFBR2 c.1146C>G p.S382R Missense 4/7 -
3-30713821-C-A TGFBR2 c.1146C>A p.S382R Missense 4/7 -
3-30713819-A-C TGFBR2 c.1144A>C p.S382R Missense 4/7 -
3-30732938-G-T TGFBR2 c.1551G>T p.L517F Missense 7/7 -
3-30715718-C-A TGFBR2 c.1376C>A p.S459Y Missense 5/7 -
3-30729955-G-C TGFBR2 c.1476G>C p.L492F Missense 6/7 -
3-30732938-G-C TGFBR2 c.1551G>C p.L517F Missense 7/7 -
17-7579910-C-G TP53 c.3G>C p.M1? Missense 2/11 -
3-30732981-C-A TGFBR2 c.1594C>A p.Q532K Missense 7/7 -
3-30732990-G-T TGFBR2 c.1603G>T p.A535S Missense 7/7 -
3-30732999-T-C TGFBR2 c.1612T>C p.F538L Missense 7/7 -
3-30733001-C-A TGFBR2 c.1614C>A p.F538L Missense 7/7 -
3-30733001-C-G TGFBR2 c.1614C>G p.F538L Missense 7/7 -
3-30732964-A-G TGFBR2 c.1577A>G p.E526G Missense 7/7 -
5-112173893-G-T APC c.2602G>T p.E868* Nonsense 16/16 -
7-140501360-C-T BRAF c.712G>A p.V238I Missense 6/18 -
X-63409937-G-A AMER1 c.3230C>T p.P1077L Missense 2/2 -
3-178919092-G-A PIK3CA c.577G>A p.V193M Missense 4/21 -
17-70120442-G-T SOX9 c.1444G>T p.D482Y Missense 3/3 -
2-48027598-C-A MSH6 c.2476C>A p.H826N Missense 4/10 -
2-48026861-C-A MSH6 c.1739C>A p.S580* Nonsense 4/10 -
2-48032113-C-T MSH6 c.3503C>T p.T1168I Missense 6/10 -
17-70119918-C-T SOX9 c.920C>T p.P307L Missense 3/3 -
X-63413060-G-A AMER1 c.107C>T p.A36V Missense 2/2 -
5-112154814-G-A APC c.1085G>A p.G362D Missense 10/16 -
5-112175738-C-A APC c.4447C>A p.P1483T Missense 16/16 -
X-63412951-G-T AMER1 c.216C>A p.F72L Missense 2/2 -
X-63409970-C-A AMER1 c.3197G>T p.G1066V Missense 2/2 -
5-112176541-C-G APC c.5250C>G p.V1750= Synonymous 16/16 -
X-63409834-C-A AMER1 c.3333G>T p.K1111N Missense 2/2 -
5-112178935-A-G APC c.7644A>G p.K2548= Synonymous 16/16 -
X-63410340-C-A AMER1 c.2827G>T p.D943Y Missense 2/2 -
7-140476777-G-T BRAF c.1629C>A p.I543= Synonymous 13/18 -
3-178916838-A-G PIK3CA c.225A>G p.Q75= Synonymous 2/21 -
X-63409937-G-T AMER1 c.3230C>A p.P1077H Missense 2/2 -
17-7578519-C-T TP53 c.411G>A p.L137= Synonymous 5/11 -
17-70119832-G-T SOX9 c.834G>T p.L278= Synonymous 3/3 -
17-70119832-G-A SOX9 c.834G>A p.L278= Synonymous 3/3 -
17-70119832-G-C SOX9 c.834G>C p.L278= Synonymous 3/3 -
7-140476777-G-A BRAF c.1629C>T p.I543= Synonymous 13/18 -
5-112173395-G-T APC c.2104G>T p.G702W Missense 16/16 -
5-112179112-C-T APC c.7821C>T p.S2607= Synonymous 16/16 -
5-112179112-C-G APC c.7821C>G p.S2607= Synonymous 16/16 -
5-112179112-C-A APC c.7821C>A p.S2607= Synonymous 16/16 -
3-178917565-G-A PIK3CA c.440G>A p.C147Y Missense 3/21 -
3-178941956-C-A PIK3CA c.2275C>A p.H759N Missense 15/21 -
5-112177122-G-A APC c.5831G>A p.G1944E Missense 16/16 -
5-112174512-C-T APC c.3221C>T p.T1074I Missense 16/16 -
5-112174073-G-A APC c.2782G>A p.A928T Missense 16/16 -
18-48581197-G-T SMAD4 c.501G>T p.E167D Missense 5/12 -
3-30715651-G-T TGFBR2 c.1309G>T p.E437* Nonsense 5/7 -
17-70119956-G-T SOX9 c.958G>T p.G320C Missense 3/3 -
5-112179210-C-T APC c.7919C>T p.S2640L Missense 16/16 -
18-48573645-A-G SMAD4 c.229A>G p.T77A Missense 2/12 -
7-140439643-T-G BRAF c.2096A>C p.K699T Missense 17/18 -
3-30648431-G-A TGFBR2 c.56G>A p.R19H Missense 1/7 -
3-30686252-G-A TGFBR2 c.108G>A p.M36I Missense 2/7 -
5-112154724-G-T APC c.995G>T p.R332L Missense 10/16 -
7-140482932-G-T BRAF c.1203C>A p.T401= Synonymous 10/18 -
7-140482932-G-A BRAF c.1203C>T p.T401= Synonymous 10/18 -
7-140477875-C-T BRAF c.1433G>A p.G478D Missense 12/18 -
7-140508759-G-T BRAF c.541C>A p.L181I Missense 4/18 -
X-63413103-C-A AMER1 c.64G>T p.E22* Nonsense 2/2 -
5-79950618-G-T MSH3 c.72G>T p.L24F Missense 1/24 -
5-79950618-G-C MSH3 c.72G>C p.L24F Missense 1/24 -
5-112178367-C-G APC c.7076C>G p.S2359* Nonsense 16/16 -
7-140501297-A-G BRAF c.775T>C p.F259L Missense 6/18 -
7-140501295-G-T BRAF c.777C>A p.F259L Missense 6/18 -
3-178917484-C-T PIK3CA c.359C>T p.A120V Missense 3/21 -
17-70119076-C-T SOX9 c.648C>T p.S216= Synonymous 2/3 -
17-70119076-C-G SOX9 c.648C>G p.S216= Synonymous 2/3 -
17-70119076-C-A SOX9 c.648C>A p.S216= Synonymous 2/3 -
3-178917559-A-G PIK3CA c.434A>G p.N145S Missense 3/21 -
17-70119107-C-T SOX9 c.679C>T p.H227Y Missense 2/3 -
X-63410310-G-T AMER1 c.2857C>A p.P953T Missense 2/2 -
X-63411079-C-A AMER1 c.2088G>T p.R696S Missense 2/2 -
5-112180257-C-T APC c.*434C>T - 3-UTRSNV 16/16 -
5-112176541-C-A APC c.5250C>A p.V1750= Synonymous 16/16 -
5-112176541-C-T APC c.5250C>T p.V1750= Synonymous 16/16 -
18-48611359-C-T SMAD4 c.*6522C>T - 3-UTRSNV 12/12 -
18-48609920-G-A SMAD4 c.*5083G>A - 3-UTRSNV 12/12 -
18-48610384-A-G SMAD4 c.*5547A>G - 3-UTRSNV 12/12 -
18-48610007-C-T SMAD4 c.*5170C>T - 3-UTRSNV 12/12 -
3-30686200-A-G TGFBR2 c.95-39A>G - IntronicSNV - 1/6
5-79952390-T-C MSH3 c.358+40T>C - IntronicSNV - 2/23
5-79952390-T-G MSH3 c.358+40T>G - IntronicSNV - 2/23
5-80037371-A-G MSH3 c.1653+4A>G - IntronicSNV - 11/23
5-80021445-A-T MSH3 c.1453+61A>T - IntronicSNV - 9/23
5-79952402-G-T MSH3 c.358+52G>T - IntronicSNV - 2/23
5-80057337-G-A MSH3 c.1764-28G>A - IntronicSNV - 12/23
3-178942639-G-A PIK3CA c.2416+30G>A - IntronicSNV - 16/20
3-178916591-A-G PIK3CA c.1-23A>G - 5-UTRSNV 2/21 -
3-178921313-C-A PIK3CA c.814-19C>A - IntronicSNV - 4/20
3-178921313-C-T PIK3CA c.814-19C>T - IntronicSNV - 4/20
5-112164747-A-G APC c.1743+78A>G - IntronicSNV - 14/15
2-48028314-T-C MSH6 c.3172+20T>C - IntronicSNV - 4/9
5-79966178-G-A MSH3 c.792+50G>A - IntronicSNV - 4/23
5-80124801-G-A MSH3 c.2813+15241G>A - IntronicSNV - 20/23
5-80160610-T-A MSH3 c.3001-22T>A - IntronicSNV - 21/23
18-48604849-G-A SMAD4 c.*12G>A - 3-UTRSNV 12/12 -
18-48604849-G-T SMAD4 c.*12G>T - 3-UTRSNV 12/12 -
18-48575717-C-T SMAD4 c.454+23C>T - IntronicSNV - 4/11
18-48575008-T-C SMAD4 c.250-48T>C - IntronicSNV - 2/11
18-48592085-A-G SMAD4 c.1139+109A>G - IntronicSNV - 9/11
18-48604513-T-C SMAD4 c.1448-113T>C - IntronicSNV - 11/11
X-63407886-G-C AMER1 c.*1873C>G - 3-UTRSNV 2/2 -
X-63407886-G-T AMER1 c.*1873C>A - 3-UTRSNV 2/2 -
X-63408388-T-G AMER1 c.*1371A>C - 3-UTRSNV 2/2 -
X-63405763-T-C AMER1 c.*3996A>G - 3-UTRSNV 2/2 -
5-112174294-A-T APC c.3003A>T p.P1001= Synonymous 16/16 -
X-63412953-A-G AMER1 c.214T>C p.F72L Missense 2/2 -
17-7579507-T-C TP53 c.180A>G p.P60= Synonymous 4/11 -
5-112174294-A-G APC c.3003A>G p.P1001= Synonymous 16/16 -
5-112174294-A-C APC c.3003A>C p.P1001= Synonymous 16/16 -
2-48026892-C-A MSH6 c.1770C>A p.P590= Synonymous 4/10 -
18-48593511-C-T SMAD4 c.1262C>T p.A421V Missense 10/12 -
18-48573662-T-G SMAD4 c.246T>G p.L82= Synonymous 2/12 -
18-48573662-T-A SMAD4 c.246T>A p.L82= Synonymous 2/12 -
18-48573662-T-C SMAD4 c.246T>C p.L82= Synonymous 2/12 -
18-48593398-A-G SMAD4 c.1149A>G p.I383M Missense 10/12 -
2-48027854-G-T MSH6 c.2732G>T p.R911L Missense 4/10 -
2-48025900-G-A MSH6 c.778G>A p.G260S Missense 4/10 -
2-48030627-TT-CC MSH6 c.3241_3242delTTinsCC p.L1081P Missense 5/10 -
2-48010389-C-A MSH6 c.17C>A p.T6N Missense 1/10 -
2-48026892-C-T MSH6 c.1770C>T p.P590= Synonymous 4/10 -
2-48026892-C-G MSH6 c.1770C>G p.P590= Synonymous 4/10 -
2-48026277-G-C MSH6 c.1155G>C p.R385S Missense 4/10 -
2-48026277-G-T MSH6 c.1155G>T p.R385S Missense 4/10 -
2-48033643-T-C MSH6 c.3854T>C p.F1285S Missense 9/10 -
2-48026392-G-A MSH6 c.1270G>A p.V424I Missense 4/10 -
2-48025939-G-A MSH6 c.817G>A p.G273R Missense 4/10 -
2-48025939-G-C MSH6 c.817G>C p.G273R Missense 4/10 -
2-48026644-G-A MSH6 c.1522G>A p.V508M Missense 4/10 -
2-48023169-G-A MSH6 c.594G>A p.E198= Synonymous 3/10 -
2-48026491-G-A MSH6 c.1369G>A p.A457T Missense 4/10 -
2-48026433-C-T MSH6 c.1311C>T p.H437= Synonymous 4/10 -
2-48027556-C-G MSH6 c.2434C>G p.L812V Missense 4/10 -
2-48026440-G-A MSH6 c.1318G>A p.A440T Missense 4/10 -
2-48033790-G-T MSH6 c.4001G>T p.R1334L Missense 9/10 -
2-48026771-C-A MSH6 c.1649C>A p.S550Y Missense 4/10 -
2-48028211-A-G MSH6 c.3089A>G p.K1030R Missense 4/10 -
2-48026074-G-T MSH6 c.952G>T p.E318* Nonsense 4/10 -
2-48025934-A-G MSH6 c.812A>G p.E271G Missense 4/10 -
2-48026116-G-T MSH6 c.994G>T p.E332* Nonsense 4/10 -
2-48026931-G-C MSH6 c.1809G>C p.K603N Missense 4/10 -
2-48026931-G-T MSH6 c.1809G>T p.K603N Missense 4/10 -
2-48026062-AG-TA MSH6 c.940_941delAGinsTA p.S314Y Missense 4/10 -
2-48027847-TT-CC MSH6 c.2725_2726delTTinsCC p.L909P Missense 4/10 -
2-48033371-G-T MSH6 c.3675G>T p.T1225= Synonymous 8/10 -
2-48033371-G-C MSH6 c.3675G>C p.T1225= Synonymous 8/10 -
2-48018122-G-A MSH6 c.317G>A p.W106* Nonsense 2/10 -
2-48018123-G-A MSH6 c.318G>A p.W106* Nonsense 2/10 -
2-48026601-G-A MSH6 c.1479G>A p.E493= Synonymous 4/10 -
2-48027919-T-C MSH6 c.2797T>C p.F933L Missense 4/10 -
2-48027921-T-A MSH6 c.2799T>A p.F933L Missense 4/10 -
2-48027921-T-G MSH6 c.2799T>G p.F933L Missense 4/10 -
2-48023078-C-A MSH6 c.503C>A p.A168E Missense 3/10 -
2-48026685-A-G MSH6 c.1563A>G p.T521= Synonymous 4/10 -
2-48026685-A-T MSH6 c.1563A>T p.T521= Synonymous 4/10 -
2-48026685-A-C MSH6 c.1563A>C p.T521= Synonymous 4/10 -
2-48026290-G-T MSH6 c.1168G>T p.D390Y Missense 4/10 -
2-48025892-A-G MSH6 c.770A>G p.D257G Missense 4/10 -
2-48026282-A-G MSH6 c.1160A>G p.D387G Missense 4/10 -
2-48026352-G-C MSH6 c.1230G>C p.M410I Missense 4/10 -
2-48026352-G-A MSH6 c.1230G>A p.M410I Missense 4/10 -
2-48026352-G-T MSH6 c.1230G>T p.M410I Missense 4/10 -
2-48027135-G-T MSH6 c.2013G>T p.L671F Missense 4/10 -
2-48027135-G-C MSH6 c.2013G>C p.L671F Missense 4/10 -
2-48010622-G-A MSH6 c.250G>A p.A84T Missense 1/10 -
2-48027613-C-A MSH6 c.2491C>A p.P831T Missense 4/10 -
2-48033958-G-A MSH6 c.4042G>A p.E1348K Missense 10/10 -
2-48033672-C-A MSH6 c.3883C>A p.P1295T Missense 9/10 -
2-48010390-C-A MSH6 c.18C>A p.T6= Synonymous 1/10 -
2-48010390-C-G MSH6 c.18C>G p.T6= Synonymous 1/10 -
2-48010390-C-T MSH6 c.18C>T p.T6= Synonymous 1/10 -
2-48027841-G-A MSH6 c.2719G>A p.V907I Missense 4/10 -
2-48026044-G-T MSH6 c.922G>T p.G308C Missense 4/10 -
2-48018142-C-A MSH6 c.337C>A p.H113N Missense 2/10 -
2-48027744-C-A MSH6 c.2622C>A p.I874= Synonymous 4/10 -
2-48027744-C-T MSH6 c.2622C>T p.I874= Synonymous 4/10 -
2-48010608-C-A MSH6 c.236C>A p.S79* Nonsense 1/10 -
2-48027336-G-A MSH6 c.2214G>A p.V738= Synonymous 4/10 -
2-48027336-G-C MSH6 c.2214G>C p.V738= Synonymous 4/10 -
2-48027336-G-T MSH6 c.2214G>T p.V738= Synonymous 4/10 -
2-48027089-C-A MSH6 c.1967C>A p.P656H Missense 4/10 -
2-48023157-A-C MSH6 c.582A>C p.A194= Synonymous 3/10 -
2-48023157-A-G MSH6 c.582A>G p.A194= Synonymous 3/10 -
2-48023157-A-T MSH6 c.582A>T p.A194= Synonymous 3/10 -
2-48026296-G-T MSH6 c.1174G>T p.D392Y Missense 4/10 -
2-48026025-G-C MSH6 c.903G>C p.K301N Missense 4/10 -
2-48026963-C-A MSH6 c.1841C>A p.S614Y Missense 4/10 -
2-48026002-G-A MSH6 c.880G>A p.V294I Missense 4/10 -
2-48030705-G-A MSH6 c.3319G>A p.D1107N Missense 5/10 -
2-48010408-C-T MSH6 c.36C>T p.P12= Synonymous 1/10 -
2-48010408-C-G MSH6 c.36C>G p.P12= Synonymous 1/10 -
2-48010408-C-A MSH6 c.36C>A p.P12= Synonymous 1/10 -
2-48010460-G-T MSH6 c.88G>T p.E30* Nonsense 1/10 -
2-48025778-G-A MSH6 c.656G>A p.S219N Missense 4/10 -
2-48026973-T-G MSH6 c.1851T>G p.L617= Synonymous 4/10 -
2-48026973-T-A MSH6 c.1851T>A p.L617= Synonymous 4/10 -
2-48026973-T-C MSH6 c.1851T>C p.L617= Synonymous 4/10 -
2-48026159-C-A MSH6 c.1037C>A p.S346Y Missense 4/10 -
2-48026000-C-A MSH6 c.878C>A p.P293H Missense 4/10 -
2-48026515-G-A MSH6 c.1393G>A p.A465T Missense 4/10 -
2-48033958-G-T MSH6 c.4042G>T p.E1348* Nonsense 10/10 -
2-48033967-C-A MSH6 c.4051C>A p.H1351N Missense 10/10 -
2-48030602-T-G MSH6 c.3216T>G p.G1072= Synonymous 5/10 -
2-48030602-T-A MSH6 c.3216T>A p.G1072= Synonymous 5/10 -
2-48030602-T-C MSH6 c.3216T>C p.G1072= Synonymous 5/10 -
2-48033661-A-G MSH6 c.3872A>G p.K1291R Missense 9/10 -
2-48033729-C-A MSH6 c.3940C>A p.Q1314K Missense 9/10 -
2-48027387-A-G MSH6 c.2265A>G p.E755= Synonymous 4/10 -
2-48032116-C-A MSH6 c.3506C>A p.P1169Q Missense 6/10 -
2-48030732-G-T MSH6 c.3346G>T p.G1116C Missense 5/10 -
2-48026123-A-G MSH6 c.1001A>G p.K334R Missense 4/10 -
2-48027064-A-T MSH6 c.1942A>T p.S648C Missense 4/10 -
2-48026753-A-G MSH6 c.1631A>G p.E544G Missense 4/10 -
2-48025946-G-A MSH6 c.824G>A p.S275N Missense 4/10 -
2-48028009-G-T MSH6 c.2887G>T p.G963C Missense 4/10 -
2-48033609-G-T MSH6 c.3820G>T p.E1274* Nonsense 9/10 -
2-48026540-T-A MSH6 c.1418T>A p.L473Q Missense 4/10 -
2-48026781-T-A MSH6 c.1659T>A p.T553= Synonymous 4/10 -
2-48026781-T-G MSH6 c.1659T>G p.T553= Synonymous 4/10 -
2-48026781-T-C MSH6 c.1659T>C p.T553= Synonymous 4/10 -
2-48030797-G-C MSH6 c.3411G>C p.M1137I Missense 5/10 -
2-48030797-G-A MSH6 c.3411G>A p.M1137I Missense 5/10 -
2-48030797-G-T MSH6 c.3411G>T p.M1137I Missense 5/10 -
2-48027615-C-G MSH6 c.2493C>G p.P831= Synonymous 4/10 -
2-48027615-C-A MSH6 c.2493C>A p.P831= Synonymous 4/10 -
2-48018110-G-A MSH6 c.305G>A p.G102D Missense 2/10 -
2-48030780-G-A MSH6 c.3394G>A p.V1132I Missense 5/10 -
2-48018109-G-A MSH6 c.304G>A p.G102S Missense 2/10 -
2-48010444-G-T MSH6 c.72G>T p.S24= Synonymous 1/10 -
2-48010444-G-C MSH6 c.72G>C p.S24= Synonymous 1/10 -
2-48010444-G-A MSH6 c.72G>A p.S24= Synonymous 1/10 -
2-48032111-C-T MSH6 c.3501C>T p.L1167= Synonymous 6/10 -
2-48032111-C-G MSH6 c.3501C>G p.L1167= Synonymous 6/10 -
2-48032111-C-A MSH6 c.3501C>A p.L1167= Synonymous 6/10 -
2-48028032-G-T MSH6 c.2910G>T p.W970C Missense 4/10 -
2-48030612-C-A MSH6 c.3226C>A p.R1076S Missense 5/10 -
2-48027266-A-G MSH6 c.2144A>G p.D715G Missense 4/10 -
2-48027682-A-G MSH6 c.2560A>G p.K854E Missense 4/10 -
2-48026797-T-C MSH6 c.1675T>C p.C559R Missense 4/10 -
2-48027603-T-C MSH6 c.2481T>C p.N827= Synonymous 4/10 -
2-48030593-G-T MSH6 c.3207G>T p.G1069= Synonymous 5/10 -
2-48030593-G-A MSH6 c.3207G>A p.G1069= Synonymous 5/10 -
2-48030593-G-C MSH6 c.3207G>C p.G1069= Synonymous 5/10 -
2-48026676-C-A MSH6 c.1554C>A p.T518= Synonymous 4/10 -
2-48026676-C-G MSH6 c.1554C>G p.T518= Synonymous 4/10 -
2-48018181-TCA-AAC MSH6 c.376_378delTCAinsAAC p.S126N Missense 2/10 -
2-48027432-T-G MSH6 c.2310T>G p.G770= Synonymous 4/10 -
2-48027432-T-A MSH6 c.2310T>A p.G770= Synonymous 4/10 -
2-48027432-T-C MSH6 c.2310T>C p.G770= Synonymous 4/10 -
5-80109454-A-G MSH3 c.2707A>G p.S903G Missense 20/24 -
18-48591840-G-A SMAD4 c.1003G>A p.V335I Missense 9/12 -
18-48581357-T-C SMAD4 c.661T>C p.S221P Missense 5/12 -
18-48581302-C-A SMAD4 c.606C>A p.A202= Synonymous 5/12 -
18-48581302-C-T SMAD4 c.606C>T p.A202= Synonymous 5/12 -
18-48586257-C-T SMAD4 c.926C>T p.A309V Missense 8/12 -
18-48591797-T-G SMAD4 c.960T>G p.P320= Synonymous 9/12 -
18-48591797-T-A SMAD4 c.960T>A p.P320= Synonymous 9/12 -
18-48591797-T-C SMAD4 c.960T>C p.P320= Synonymous 9/12 -
18-48584811-C-T SMAD4 c.889C>T p.H297Y Missense 7/12 -
18-48604817-G-T SMAD4 c.1639G>T p.D547Y Missense 12/12 -
18-48604733-A-G SMAD4 c.1555A>G p.K519E Missense 12/12 -
18-48573430-C-G SMAD4 c.14C>G p.S5C Missense 2/12 -
18-48575128-G-C SMAD4 c.322G>C p.E108Q Missense 3/12 -
18-48584716-C-T SMAD4 c.794C>T p.T265I Missense 7/12 -
18-48584815-C-A SMAD4 c.893C>A p.P298H Missense 7/12 -
18-48593479-G-A SMAD4 c.1230G>A p.Q410= Synonymous 10/12 -
18-48584746-C-T SMAD4 c.824C>T p.P275L Missense 7/12 -
18-48584806-C-A SMAD4 c.884C>A p.P295Q Missense 7/12 -
18-48591845-A-T SMAD4 c.1008A>T p.G336= Synonymous 9/12 -
18-48591845-A-G SMAD4 c.1008A>G p.G336= Synonymous 9/12 -
18-48591845-A-C SMAD4 c.1008A>C p.G336= Synonymous 9/12 -
18-48593438-G-A SMAD4 c.1189G>A p.V397I Missense 10/12 -
18-48584723-C-A SMAD4 c.801C>A p.T267= Synonymous 7/12 -
18-48584723-C-G SMAD4 c.801C>G p.T267= Synonymous 7/12 -
18-48584723-C-T SMAD4 c.801C>T p.T267= Synonymous 7/12 -
18-48591805-G-T SMAD4 c.968G>T p.W323L Missense 9/12 -
18-48593470-C-A SMAD4 c.1221C>A p.V407= Synonymous 10/12 -
18-48593470-C-G SMAD4 c.1221C>G p.V407= Synonymous 10/12 -
18-48593470-C-T SMAD4 c.1221C>T p.V407= Synonymous 10/12 -
18-48584738-G-C SMAD4 c.816G>C p.R272S Missense 7/12 -
18-48584738-G-T SMAD4 c.816G>T p.R272S Missense 7/12 -
18-48584593-C-A SMAD4 c.766C>A p.Q256K Missense 6/12 -
18-48584581-G-T SMAD4 c.754G>T p.G252* Nonsense 6/12 -
18-48581220-A-G SMAD4 c.524A>G p.E175G Missense 5/12 -
18-48581275-G-C SMAD4 c.579G>C p.E193D Missense 5/12 -
18-48581275-G-T SMAD4 c.579G>T p.E193D Missense 5/12 -
18-48581238-C-A SMAD4 c.542C>A p.T181N Missense 5/12 -
18-48591961-C-T SMAD4 c.1124C>T p.A375V Missense 9/12 -
18-48604661-C-T SMAD4 c.1483C>T p.L495F Missense 12/12 -
18-48581269-G-T SMAD4 c.573G>T p.S191= Synonymous 5/12 -
18-48581269-G-C SMAD4 c.573G>C p.S191= Synonymous 5/12 -
18-48575210-G-T SMAD4 c.404G>T p.R135L Missense 3/12 -
18-48584539-T-C SMAD4 c.712T>C p.L238= Synonymous 6/12 -
18-48584541-G-A SMAD4 c.714G>A p.L238= Synonymous 6/12 -
18-48604810-G-T SMAD4 c.1632G>T p.P544= Synonymous 12/12 -
18-48604810-G-C SMAD4 c.1632G>C p.P544= Synonymous 12/12 -
18-48591913-G-T SMAD4 c.1076G>T p.G359V Missense 9/12 -
18-48584764-C-T SMAD4 c.842C>T p.P281L Missense 7/12 -
18-48593528-C-A SMAD4 c.1279C>A p.H427N Missense 10/12 -
18-48575113-G-A SMAD4 c.307G>A p.D103N Missense 3/12 -
18-48591915-G-T SMAD4 c.1078G>T p.D360Y Missense 9/12 -
18-48591872-C-A SMAD4 c.1035C>A p.C345* Nonsense 9/12 -
18-48584612-A-G SMAD4 c.785A>G p.H262R Missense 6/12 -
18-48603051-C-A SMAD4 c.1352C>A p.A451E Missense 11/12 -
18-48591911-A-T SMAD4 c.1074A>T p.G358= Synonymous 9/12 -
18-48591911-A-G SMAD4 c.1074A>G p.G358= Synonymous 9/12 -
18-48591911-A-C SMAD4 c.1074A>C p.G358= Synonymous 9/12 -
18-48603116-G-A SMAD4 c.1417G>A p.G473R Missense 11/12 -
18-48603116-G-C SMAD4 c.1417G>C p.G473R Missense 11/12 -
18-48584505-C-A SMAD4 c.678C>A p.A226= Synonymous 6/12 -
18-48584505-C-G SMAD4 c.678C>G p.A226= Synonymous 6/12 -
18-48604771-G-A SMAD4 c.1593G>A p.R531= Synonymous 12/12 -
18-48604771-G-C SMAD4 c.1593G>C p.R531= Synonymous 12/12 -
18-48604771-G-T SMAD4 c.1593G>T p.R531= Synonymous 12/12 -
18-48584778-G-A SMAD4 c.856G>A p.G286S Missense 7/12 -
18-48604821-C-T SMAD4 c.1643C>T p.P548L Missense 12/12 -
18-48591811-C-A SMAD4 c.974C>A p.S325Y Missense 9/12 -
18-48584497-C-A SMAD4 c.670C>A p.Q224K Missense 6/12 -
18-48603117-G-T SMAD4 c.1418G>T p.G473V Missense 11/12 -
18-48575164-G-T SMAD4 c.358G>T p.D120Y Missense 3/12 -
3-30713836-G-T TGFBR2 c.1161G>T p.V387= Synonymous 4/7 -
3-30648417-C-A TGFBR2 c.42C>A p.I14= Synonymous 1/7 -
3-30648417-C-T TGFBR2 c.42C>T p.I14= Synonymous 1/7 -
3-30686324-C-A TGFBR2 c.180C>A p.T60= Synonymous 2/7 -
3-30686324-C-G TGFBR2 c.180C>G p.T60= Synonymous 2/7 -
3-30686324-C-T TGFBR2 c.180C>T p.T60= Synonymous 2/7 -
3-30713190-T-G TGFBR2 c.515T>G p.L172R Missense 4/7 -
3-30713154-T-C TGFBR2 c.479T>C p.L160S Missense 4/7 -
3-30729933-A-T TGFBR2 c.1454A>T p.E485V Missense 6/7 -
3-30691847-G-T TGFBR2 c.349G>T p.A117S Missense 3/7 -
3-30691772-G-T TGFBR2 c.274G>T p.D92Y Missense 3/7 -
3-30713767-T-C TGFBR2 c.1092T>C p.D364= Synonymous 4/7 -
3-30729988-C-T TGFBR2 c.1509C>T p.F503= Synonymous 6/7 -
3-30729914-C-A TGFBR2 c.1435C>A p.R479= Synonymous 6/7 -
3-30729916-G-A TGFBR2 c.1437G>A p.R479= Synonymous 6/7 -
3-30729916-G-C TGFBR2 c.1437G>C p.R479= Synonymous 6/7 -
3-30729916-G-T TGFBR2 c.1437G>T p.R479= Synonymous 6/7 -
3-30713800-C-A TGFBR2 c.1125C>A p.I375= Synonymous 4/7 -
3-30713800-C-T TGFBR2 c.1125C>T p.I375= Synonymous 4/7 -
3-30715629-C-A TGFBR2 c.1287C>A p.V429= Synonymous 5/7 -
3-30715629-C-G TGFBR2 c.1287C>G p.V429= Synonymous 5/7 -
3-30715629-C-T TGFBR2 c.1287C>T p.V429= Synonymous 5/7 -
3-30729955-G-T TGFBR2 c.1476G>T p.L492F Missense 6/7 -
3-30713203-G-T TGFBR2 c.528G>T p.L176= Synonymous 4/7 -
3-30713203-G-A TGFBR2 c.528G>A p.L176= Synonymous 4/7 -
3-30713203-G-C TGFBR2 c.528G>C p.L176= Synonymous 4/7 -
3-30713201-C-T TGFBR2 c.526C>T p.L176= Synonymous 4/7 -
3-30713806-C-T TGFBR2 c.1131C>T p.H377= Synonymous 4/7 -
3-30691839-A-G TGFBR2 c.341A>G p.E114G Missense 3/7 -
3-30713158-G-T TGFBR2 c.483G>T p.L161F Missense 4/7 -
3-30713158-G-C TGFBR2 c.483G>C p.L161F Missense 4/7 -
3-30691818-C-T TGFBR2 c.320C>T p.P107L Missense 3/7 -
3-30713160-T-C TGFBR2 c.485T>C p.L162P Missense 4/7 -
3-30691809-C-A TGFBR2 c.311C>A p.P104H Missense 3/7 -
3-30713569-T-C TGFBR2 c.894T>C p.N298= Synonymous 4/7 -
3-30691908-C-A TGFBR2 c.410C>A p.S137Y Missense 3/7 -
3-30691884-C-A TGFBR2 c.386C>A p.P129H Missense 3/7 -
3-30713265-T-G TGFBR2 c.590T>G p.L197R Missense 4/7 -
3-30733017-C-A TGFBR2 c.1630C>A p.L544M Missense 7/7 -
3-30715599-G-A TGFBR2 c.1257G>A p.V419= Synonymous 5/7 -
3-30715599-G-C TGFBR2 c.1257G>C p.V419= Synonymous 5/7 -
3-30715599-G-T TGFBR2 c.1257G>T p.V419= Synonymous 5/7 -
3-30648444-G-A TGFBR2 c.69G>A p.T23= Synonymous 1/7 -
3-30648444-G-T TGFBR2 c.69G>T p.T23= Synonymous 1/7 -
3-30648444-G-C TGFBR2 c.69G>C p.T23= Synonymous 1/7 -
3-30686314-G-T TGFBR2 c.170G>T p.R57I Missense 2/7 -
3-30686336-G-T TGFBR2 c.192G>T p.Q64H Missense 2/7 -
3-30686336-G-C TGFBR2 c.192G>C p.Q64H Missense 2/7 -
3-30648468-G-T TGFBR2 c.93G>T p.S31= Synonymous 1/7 -
3-30648468-G-C TGFBR2 c.93G>C p.S31= Synonymous 1/7 -
3-30648468-G-A TGFBR2 c.93G>A p.S31= Synonymous 1/7 -
3-30713470-G-T TGFBR2 c.795G>T p.Q265H Missense 4/7 -
3-30713470-G-C TGFBR2 c.795G>C p.Q265H Missense 4/7 -
3-30691947-C-T TGFBR2 c.449C>T p.S150L Missense 3/7 -
3-30691910-T-C TGFBR2 c.412T>C p.C138R Missense 3/7 -
3-30715731-A-C TGFBR2 c.1389A>C p.A463= Synonymous 5/7 -
3-30715731-A-G TGFBR2 c.1389A>G p.A463= Synonymous 5/7 -
3-30715731-A-T TGFBR2 c.1389A>T p.A463= Synonymous 5/7 -
3-30686252-G-T TGFBR2 c.108G>T p.M36I Missense 2/7 -
3-30713367-G-T TGFBR2 c.692G>T p.C231F Missense 4/7 -
3-30691772-G-A TGFBR2 c.274G>A p.D92N Missense 3/7 -
3-30732986-T-C TGFBR2 c.1599T>C p.C533= Synonymous 7/7 -
3-30686360-C-T TGFBR2 c.216C>T p.S72= Synonymous 2/7 -
3-30648390-G-T TGFBR2 c.15G>T p.L5= Synonymous 1/7 -
3-30648390-G-A TGFBR2 c.15G>A p.L5= Synonymous 1/7 -
3-30648390-G-C TGFBR2 c.15G>C p.L5= Synonymous 1/7 -
3-30648388-C-T TGFBR2 c.13C>T p.L5= Synonymous 1/7 -
3-30691889-G-T TGFBR2 c.391G>T p.E131* Nonsense 3/7 -
3-30648382-C-A TGFBR2 c.7C>A p.R3= Synonymous 1/7 -
3-30648384-G-A TGFBR2 c.9G>A p.R3= Synonymous 1/7 -
3-30648384-G-C TGFBR2 c.9G>C p.R3= Synonymous 1/7 -
3-30648384-G-T TGFBR2 c.9G>T p.R3= Synonymous 1/7 -
3-30691825-T-C TGFBR2 c.327T>C p.H109= Synonymous 3/7 -
3-30713836-G-A TGFBR2 c.1161G>A p.V387= Synonymous 4/7 -
3-30713836-G-C TGFBR2 c.1161G>C p.V387= Synonymous 4/7 -
2-48026881-G-A MSH6 c.1759G>A p.A587T Missense 4/10 -
2-48026667-G-C MSH6 c.1545G>C p.R515S Missense 4/10 -
2-48026667-G-T MSH6 c.1545G>T p.R515S Missense 4/10 -
2-48030708-T-C MSH6 c.3322T>C p.F1108L Missense 5/10 -
2-48030710-T-A MSH6 c.3324T>A p.F1108L Missense 5/10 -
2-48030710-T-G MSH6 c.3324T>G p.F1108L Missense 5/10 -
2-48026969-C-A MSH6 c.1847C>A p.S616Y Missense 4/10 -
2-48030657-C-T MSH6 c.3271C>T p.L1091F Missense 5/10 -
2-48026718-T-G MSH6 c.1596T>G p.S532= Synonymous 4/10 -
2-48026718-T-C MSH6 c.1596T>C p.S532= Synonymous 4/10 -
2-48026718-T-A MSH6 c.1596T>A p.S532= Synonymous 4/10 -
2-48027263-C-A MSH6 c.2141C>A p.S714Y Missense 4/10 -
2-48027297-C-A MSH6 c.2175C>A p.I725= Synonymous 4/10 -
2-48027297-C-T MSH6 c.2175C>T p.I725= Synonymous 4/10 -
5-80057476-C-T MSH3 c.1875C>T p.L625= Synonymous 13/24 -
12-25398311-T-C KRAS c.8A>G p.E3G Missense 2/5 -
12-25380289-C-A KRAS c.169G>T p.D57Y Missense 3/5 -
12-25398316-C-G KRAS c.3G>C p.M1? Missense 2/5 -
12-25398316-C-A KRAS c.3G>T p.M1? Missense 2/5 -
12-25378587-A-G KRAS c.411T>C p.Y137= Synonymous 4/5 -
5-80040380-C-A MSH3 c.1709C>A p.S570* Nonsense 12/24 -
5-80040380-C-G MSH3 c.1709C>G p.S570* Nonsense 12/24 -
5-80021381-A-G MSH3 c.1450A>G p.K484E Missense 9/24 -
5-80024776-C-T MSH3 c.1560C>T p.S520= Synonymous 10/24 -
5-80024776-C-G MSH3 c.1560C>G p.S520= Synonymous 10/24 -
5-80024776-C-A MSH3 c.1560C>A p.S520= Synonymous 10/24 -
5-80057441-C-A MSH3 c.1840C>A p.H614N Missense 13/24 -
5-80168953-C-T MSH3 c.3149C>T p.P1050L Missense 23/24 -
5-80088634-C-A MSH3 c.2626C>A p.Q876K Missense 19/24 -
5-79970938-T-C MSH3 c.1164T>C p.I388= Synonymous 7/24 -
5-79970938-T-A MSH3 c.1164T>A p.I388= Synonymous 7/24 -
5-80088616-T-C MSH3 c.2608T>C p.L870= Synonymous 19/24 -
5-80088618-G-A MSH3 c.2610G>A p.L870= Synonymous 19/24 -
5-79968066-G-A MSH3 c.796G>A p.A266T Missense 5/24 -
5-79952304-C-T MSH3 c.312C>T p.V104= Synonymous 2/24 -
5-79970886-T-C MSH3 c.1112T>C p.I371T Missense 7/24 -
5-79950662-C-A MSH3 c.116C>A p.S39Y Missense 1/24 -
5-80040402-G-A MSH3 c.1731G>A p.K577= Synonymous 12/24 -
5-80064679-A-G MSH3 c.2110A>G p.K704E Missense 15/24 -
5-79952247-A-G MSH3 c.255A>G p.R85= Synonymous 2/24 -
5-79952245-A-C MSH3 c.253A>C p.R85= Synonymous 2/24 -
5-80088607-A-C MSH3 c.2599A>C p.I867L Missense 19/24 -
5-80149950-A-C MSH3 c.2815A>C p.M939L Missense 21/24 -
5-80149950-A-T MSH3 c.2815A>T p.M939L Missense 21/24 -
5-79952258-G-T MSH3 c.266G>T p.R89I Missense 2/24 -
5-79966073-C-T MSH3 c.737C>T p.A246V Missense 4/24 -
5-79968166-C-A MSH3 c.896C>A p.A299E Missense 5/24 -
5-80074651-C-A MSH3 c.2431C>A p.L811I Missense 17/24 -
5-80057476-C-G MSH3 c.1875C>G p.L625= Synonymous 13/24 -
5-80057476-C-A MSH3 c.1875C>A p.L625= Synonymous 13/24 -
5-80171652-G-T MSH3 c.3385G>T p.E1129* Nonsense 24/24 -
5-79970945-G-A MSH3 c.1171G>A p.V391M Missense 7/24 -
5-80037353-A-G MSH3 c.1639A>G p.I547V Missense 11/24 -
5-79974747-G-A MSH3 c.1175G>A p.G392E Missense 8/24 -
5-79952304-C-A MSH3 c.312C>A p.V104= Synonymous 2/24 -
5-79952304-C-G MSH3 c.312C>G p.V104= Synonymous 2/24 -
5-80083419-C-T MSH3 c.2471C>T p.A824V Missense 18/24 -
5-80160633-T-C MSH3 c.3002T>C p.V1001A Missense 22/24 -
5-80071534-T-C MSH3 c.2275T>C p.S759P Missense 16/24 -
5-80064809-T-C MSH3 c.2240T>C p.V747A Missense 15/24 -
5-80063806-G-T MSH3 c.1951G>T p.E651* Nonsense 14/24 -
5-80109475-G-A MSH3 c.2728G>A p.A910T Missense 20/24 -
5-80071550-T-G MSH3 c.2291T>G p.I764R Missense 16/24 -
5-80083442-G-T MSH3 c.2494G>T p.D832Y Missense 18/24 -
5-80109406-G-T MSH3 c.2659G>T p.D887Y Missense 20/24 -
5-80024734-C-A MSH3 c.1518C>A p.I506= Synonymous 10/24 -
5-80024734-C-T MSH3 c.1518C>T p.I506= Synonymous 10/24 -
5-80168947-A-G MSH3 c.3143A>G p.Q1048R Missense 23/24 -
3-178928281-G-C PIK3CA c.1467G>C p.M489I Missense 9/21 -
5-79961165-C-A MSH3 c.562C>A p.R188S Missense 3/24 -
5-80024675-C-T MSH3 c.1459C>T p.Q487* Nonsense 10/24 -
5-79961143-A-C MSH3 c.540A>C p.A180= Synonymous 3/24 -
5-79961143-A-G MSH3 c.540A>G p.A180= Synonymous 3/24 -
5-79961143-A-T MSH3 c.540A>T p.A180= Synonymous 3/24 -
5-79968070-C-T MSH3 c.800C>T p.A267V Missense 5/24 -
5-79966050-A-G MSH3 c.714A>G p.E238= Synonymous 4/24 -
5-80083427-C-A MSH3 c.2479C>A p.H827N Missense 18/24 -
5-79952341-G-A MSH3 c.349G>A p.G117S Missense 2/24 -
5-80168999-A-C MSH3 c.3195A>C p.A1065= Synonymous 23/24 -
5-80168999-A-G MSH3 c.3195A>G p.A1065= Synonymous 23/24 -
5-80168999-A-T MSH3 c.3195A>T p.A1065= Synonymous 23/24 -
5-80150007-G-A MSH3 c.2872G>A p.D958N Missense 21/24 -
5-79965950-C-A MSH3 c.614C>A p.S205* Nonsense 4/24 -
5-79965950-C-G MSH3 c.614C>G p.S205* Nonsense 4/24 -
5-79961058-A-G MSH3 c.455A>G p.Q152R Missense 3/24 -
5-80171579-C-T MSH3 c.3312C>T p.L1104= Synonymous 24/24 -
5-80171579-C-A MSH3 c.3312C>A p.L1104= Synonymous 24/24 -
5-80024673-C-T MSH3 c.1457C>T p.S486F Missense 10/24 -
5-80171601-A-G MSH3 c.3334A>G p.T1112A Missense 24/24 -
5-80149977-G-T MSH3 c.2842G>T p.G948* Nonsense 21/24 -
5-80037347-C-A MSH3 c.1633C>A p.L545M Missense 11/24 -
5-80109555-C-T MSH3 c.2808C>T p.F936= Synonymous 20/24 -
5-80150099-C-A MSH3 c.2964C>A p.A988= Synonymous 21/24 -
5-80150099-C-G MSH3 c.2964C>G p.A988= Synonymous 21/24 -
5-80150099-C-T MSH3 c.2964C>T p.A988= Synonymous 21/24 -
5-79966045-A-G MSH3 c.709A>G p.I237V Missense 4/24 -
5-80171672-T-G MSH3 c.3405T>G p.L1135= Synonymous 24/24 -
5-80171672-T-A MSH3 c.3405T>A p.L1135= Synonymous 24/24 -
5-80171672-T-C MSH3 c.3405T>C p.L1135= Synonymous 24/24 -
5-80150010-A-G MSH3 c.2875A>G p.T959A Missense 21/24 -
5-79968656-A-G MSH3 c.1006A>G p.K336E Missense 6/24 -
5-80063823-A-G MSH3 c.1968A>G p.I656M Missense 14/24 -
5-80150116-T-A MSH3 c.2981T>A p.L994H Missense 21/24 -
5-80083388-T-C MSH3 c.2440T>C p.F814L Missense 18/24 -
5-80083390-C-A MSH3 c.2442C>A p.F814L Missense 18/24 -
5-79974872-G-T MSH3 c.1300G>T p.E434* Nonsense 8/24 -
5-80160677-G-T MSH3 c.3046G>T p.E1016* Nonsense 22/24 -
5-79950679-G-C MSH3 c.133G>C p.D45H Missense 1/24 -
5-80109528-G-A MSH3 c.2781G>A p.A927= Synonymous 20/24 -
5-80109528-G-C MSH3 c.2781G>C p.A927= Synonymous 20/24 -
5-80109528-G-T MSH3 c.2781G>T p.A927= Synonymous 20/24 -
5-79970811-C-A MSH3 c.1037C>A p.P346H Missense 7/24 -
5-80057378-C-A MSH3 c.1777C>A p.R593= Synonymous 13/24 -
5-80057380-G-A MSH3 c.1779G>A p.R593= Synonymous 13/24 -
5-80057380-G-C MSH3 c.1779G>C p.R593= Synonymous 13/24 -
5-80057380-G-T MSH3 c.1779G>T p.R593= Synonymous 13/24 -
5-79974762-C-T MSH3 c.1190C>T p.T397I Missense 8/24 -
5-79961119-C-A MSH3 c.516C>A p.I172= Synonymous 3/24 -
5-79961119-C-T MSH3 c.516C>T p.I172= Synonymous 3/24 -
5-80071574-G-T MSH3 c.2315G>T p.G772V Missense 16/24 -
5-80109449-G-T MSH3 c.2702G>T p.G901V Missense 20/24 -
5-79965934-C-G MSH3 c.598C>G p.L200V Missense 4/24 -
5-80021375-G-A MSH3 c.1444G>A p.D482N Missense 9/24 -
5-80150003-G-T MSH3 c.2868G>T p.L956= Synonymous 21/24 -
5-80150003-G-A MSH3 c.2868G>A p.L956= Synonymous 21/24 -
5-80150003-G-C MSH3 c.2868G>C p.L956= Synonymous 21/24 -
5-80150001-C-T MSH3 c.2866C>T p.L956= Synonymous 21/24 -
5-80040407-G-T MSH3 c.1736G>T p.W579L Missense 12/24 -
5-80150088-G-T MSH3 c.2953G>T p.D985Y Missense 21/24 -
3-178922361-C-A PIK3CA c.1130C>A p.P377H Missense 6/21 -
3-178948086-C-T PIK3CA c.2858C>T p.P953L Missense 20/21 -
3-178916783-C-A PIK3CA c.170C>A p.P57H Missense 2/21 -
3-178927462-G-A PIK3CA c.1225G>A p.V409I Missense 7/21 -
3-178921492-A-G PIK3CA c.974A>G p.K325R Missense 5/21 -
3-178921543-C-T PIK3CA c.1025C>T p.T342I Missense 5/21 -
3-178921415-G-C PIK3CA c.897G>C p.M299I Missense 5/21 -
3-178921415-G-A PIK3CA c.897G>A p.M299I Missense 5/21 -
3-178921415-G-T PIK3CA c.897G>T p.M299I Missense 5/21 -
3-178919094-G-A PIK3CA c.579G>A p.V193= Synonymous 4/21 -
3-178919094-G-C PIK3CA c.579G>C p.V193= Synonymous 4/21 -
3-178919094-G-T PIK3CA c.579G>T p.V193= Synonymous 4/21 -
3-178917557-G-T PIK3CA c.432G>T p.L144= Synonymous 3/21 -
3-178942516-G-A PIK3CA c.2323G>A p.A775T Missense 16/21 -
3-178919148-C-A PIK3CA c.633C>A p.I211= Synonymous 4/21 -
3-178919148-C-T PIK3CA c.633C>T p.I211= Synonymous 4/21 -
3-178927461-T-G PIK3CA c.1224T>G p.S408= Synonymous 7/21 -
3-178927461-T-A PIK3CA c.1224T>A p.S408= Synonymous 7/21 -
3-178916745-C-A PIK3CA c.132C>A p.T44= Synonymous 2/21 -
3-178916745-C-G PIK3CA c.132C>G p.T44= Synonymous 2/21 -
3-178916745-C-T PIK3CA c.132C>T p.T44= Synonymous 2/21 -
3-178942489-C-A PIK3CA c.2296C>A p.L766I Missense 16/21 -
3-178927420-G-A PIK3CA c.1183G>A p.D395N Missense 7/21 -
3-178951913-G-A PIK3CA c.2968G>A p.A990T Missense 21/21 -
3-178919222-C-A PIK3CA c.707C>A p.S236Y Missense 4/21 -
3-178927476-G-C PIK3CA c.1239G>C p.K413N Missense 7/21 -
3-178927476-G-T PIK3CA c.1239G>T p.K413N Missense 7/21 -
3-178921522-G-T PIK3CA c.1004G>T p.R335I Missense 5/21 -
3-178922349-C-A PIK3CA c.1118C>A p.T373N Missense 6/21 -
3-178941901-G-A PIK3CA c.2220G>A p.R740= Synonymous 15/21 -
3-178941899-A-C PIK3CA c.2218A>C p.R740= Synonymous 15/21 -
3-178921550-G-A PIK3CA c.1032G>A p.V344= Synonymous 5/21 -
3-178921550-G-C PIK3CA c.1032G>C p.V344= Synonymous 5/21 -
3-178921550-G-T PIK3CA c.1032G>T p.V344= Synonymous 5/21 -
3-178919316-G-T PIK3CA c.801G>T p.L267= Synonymous 4/21 -
3-178919316-G-A PIK3CA c.801G>A p.L267= Synonymous 4/21 -
3-178919316-G-C PIK3CA c.801G>C p.L267= Synonymous 4/21 -
3-178928281-G-A PIK3CA c.1467G>A p.M489I Missense 9/21 -
3-178928281-G-T PIK3CA c.1467G>T p.M489I Missense 9/21 -
3-178921343-C-T PIK3CA c.825C>T p.S275= Synonymous 5/21 -
3-178922347-C-T PIK3CA c.1116C>T p.N372= Synonymous 6/21 -
3-178941959-C-A PIK3CA c.2278C>A p.Q760K Missense 15/21 -
3-178921502-G-T PIK3CA c.984G>T p.W328C Missense 5/21 -
3-178921502-G-C PIK3CA c.984G>C p.W328C Missense 5/21 -
3-178942492-G-T PIK3CA c.2299G>T p.E767* Nonsense 16/21 -
3-178922342-G-A PIK3CA c.1111G>A p.V371M Missense 6/21 -
3-178916938-G-T PIK3CA c.325G>T p.E109* Nonsense 2/21 -
3-178922328-C-A PIK3CA c.1097C>A p.P366H Missense 6/21 -
3-178948161-A-G PIK3CA c.2933A>G p.E978G Missense 20/21 -
3-178952039-G-T PIK3CA c.3094G>T p.E1032* Nonsense 21/21 -
3-178919117-A-G PIK3CA c.602A>G p.N201S Missense 4/21 -
3-178919227-C-T PIK3CA c.712C>T p.Q238* Nonsense 4/21 -
3-178921476-G-C PIK3CA c.958G>C p.G320R Missense 5/21 -
3-178941911-T-C PIK3CA c.2230T>C p.F744L Missense 15/21 -
3-178941913-C-A PIK3CA c.2232C>A p.F744L Missense 15/21 -
3-178941913-C-G PIK3CA c.2232C>G p.F744L Missense 15/21 -
3-178947101-G-T PIK3CA c.2537G>T p.G846V Missense 18/21 -
3-178943800-A-G PIK3CA c.2467A>G p.I823V Missense 17/21 -
3-178941882-T-C PIK3CA c.2201T>C p.F734S Missense 15/21 -
3-178921366-C-A PIK3CA c.848C>A p.P283H Missense 5/21 -
3-178919153-A-C PIK3CA c.638A>C p.H213P Missense 4/21 -
3-178942502-G-T PIK3CA c.2309G>T p.R770L Missense 16/21 -
3-178922344-G-C PIK3CA c.1113G>C p.V371= Synonymous 6/21 -
3-178922344-G-T PIK3CA c.1113G>T p.V371= Synonymous 6/21 -
5-112103085-G-T APC c.420G>T p.E140D Missense 4/16 -
5-112174697-G-T APC c.3406G>T p.E1136* Nonsense 16/16 -
5-112102931-C-T APC c.266C>T p.S89L Missense 4/16 -
5-112177169-C-T APC c.5878C>T p.P1960S Missense 16/16 -
5-112177128-C-T APC c.5837C>T p.A1946V Missense 16/16 -
5-112164613-T-C APC c.1687T>C p.L563= Synonymous 14/16 -
5-112164615-G-A APC c.1689G>A p.L563= Synonymous 14/16 -
5-112174626-C-T APC c.3335C>T p.T1112I Missense 16/16 -
5-112154665-G-A APC c.936G>A p.V312= Synonymous 10/16 -
5-112154665-G-C APC c.936G>C p.V312= Synonymous 10/16 -
5-112154665-G-T APC c.936G>T p.V312= Synonymous 10/16 -
5-112090684-C-A APC c.97C>A p.H33N Missense 2/16 -
5-112175355-C-A APC c.4064C>A p.S1355Y Missense 16/16 -
5-112174714-C-A APC c.3423C>A p.T1141= Synonymous 16/16 -
5-112174714-C-G APC c.3423C>G p.T1141= Synonymous 16/16 -
5-112174714-C-T APC c.3423C>T p.T1141= Synonymous 16/16 -
5-112176150-C-T APC c.4859C>T p.S1620L Missense 16/16 -
5-112176220-T-C APC c.4929T>C p.C1643= Synonymous 16/16 -
5-112162847-A-G APC c.1451A>G p.E484G Missense 12/16 -
5-112173381-C-A APC c.2090C>A p.A697E Missense 16/16 -
5-112151209-G-C APC c.852G>C p.M284I Missense 9/16 -
5-112151209-G-A APC c.852G>A p.M284I Missense 9/16 -
5-112151209-G-T APC c.852G>T p.M284I Missense 9/16 -
5-112173695-G-T APC c.2404G>T p.D802Y Missense 16/16 -
5-112128196-G-A APC c.699G>A p.Q233= Synonymous 7/16 -
5-112176116-C-T APC c.4825C>T p.P1609S Missense 16/16 -
5-112179304-T-G APC c.8013T>G p.S2671= Synonymous 16/16 -
5-112179304-T-C APC c.8013T>C p.S2671= Synonymous 16/16 -
5-112179304-T-A APC c.8013T>A p.S2671= Synonymous 16/16 -
5-112173928-G-T APC c.2637G>T p.Q879H Missense 16/16 -
5-112175948-G-A APC c.4657G>A p.A1553T Missense 16/16 -
5-112151205-G-T APC c.848G>T p.R283L Missense 9/16 -
5-112173976-A-T APC c.2685A>T p.S895= Synonymous 16/16 -
5-112173976-A-C APC c.2685A>C p.S895= Synonymous 16/16 -
5-112177371-T-C APC c.6080T>C p.L2027P Missense 16/16 -
5-112178171-G-A APC c.6880G>A p.G2294R Missense 16/16 -
5-112178171-G-C APC c.6880G>C p.G2294R Missense 16/16 -
5-112173584-G-T APC c.2293G>T p.D765Y Missense 16/16 -
5-112151218-A-G APC c.861A>G p.E287= Synonymous 9/16 -
5-112174843-C-A APC c.3552C>A p.A1184= Synonymous 16/16 -
5-112174843-C-G APC c.3552C>G p.A1184= Synonymous 16/16 -
5-112174843-C-T APC c.3552C>T p.A1184= Synonymous 16/16 -
5-112103048-G-A APC c.383G>A p.R128K Missense 4/16 -
5-112178145-T-C APC c.6854T>C p.V2285A Missense 16/16 -
5-112170854-G-A APC c.1950G>A p.E650= Synonymous 15/16 -
5-112090643-A-C APC c.56A>C p.E19A Missense 2/16 -
5-112174541-G-T APC c.3250G>T p.D1084Y Missense 16/16 -
5-112174691-G-T APC c.3400G>T p.D1134Y Missense 16/16 -
5-112176127-G-T APC c.4836G>T p.L1612= Synonymous 16/16 -
5-112176127-G-A APC c.4836G>A p.L1612= Synonymous 16/16 -
5-112176127-G-C APC c.4836G>C p.L1612= Synonymous 16/16 -
5-112176125-C-T APC c.4834C>T p.L1612= Synonymous 16/16 -
5-112175115-G-A APC c.3824G>A p.S1275N Missense 16/16 -
5-112176690-A-G APC c.5399A>G p.N1800S Missense 16/16 -
5-112176744-A-G APC c.5453A>G p.N1818S Missense 16/16 -
5-112178367-C-A APC c.7076C>A p.S2359* Nonsense 16/16 -
5-112177686-C-A APC c.6395C>A p.S2132* Nonsense 16/16 -
5-112177686-C-G APC c.6395C>G p.S2132* Nonsense 16/16 -
5-112177631-AGT-TGA APC c.6340_6342delAGTinsTGA p.S2114* Nonsense 16/16 -
5-112116600-G-A APC c.645G>A p.Q215= Synonymous 6/16 -
5-112090657-C-A APC c.70C>A p.R24= Synonymous 2/16 -
5-112090659-A-C APC c.72A>C p.R24= Synonymous 2/16 -
5-112090659-A-G APC c.72A>G p.R24= Synonymous 2/16 -
5-112090659-A-T APC c.72A>T p.R24= Synonymous 2/16 -
5-112174798-G-C APC c.3507G>C p.E1169D Missense 16/16 -
5-112174798-G-T APC c.3507G>T p.E1169D Missense 16/16 -
5-112176986-G-T APC c.5695G>T p.E1899* Nonsense 16/16 -
5-112177094-C-T APC c.5803C>T p.Q1935* Nonsense 16/16 -
5-112176382-A-G APC c.5091A>G p.T1697= Synonymous 16/16 -
5-112176382-A-T APC c.5091A>T p.T1697= Synonymous 16/16 -
5-112176382-A-C APC c.5091A>C p.T1697= Synonymous 16/16 -
5-112178196-C-T APC c.6905C>T p.S2302L Missense 16/16 -
5-112176960-C-A APC c.5669C>A p.S1890* Nonsense 16/16 -
5-112176960-C-G APC c.5669C>G p.S1890* Nonsense 16/16 -
5-112176637-T-C APC c.5346T>C p.N1782= Synonymous 16/16 -
5-112178955-C-A APC c.7664C>A p.S2555* Nonsense 16/16 -
5-112178955-C-G APC c.7664C>G p.S2555* Nonsense 16/16 -
5-112177503-T-C APC c.6212T>C p.I2071T Missense 16/16 -
5-112179632-G-A APC c.8341G>A p.V2781M Missense 16/16 -
5-112178634-C-T APC c.7343C>T p.P2448L Missense 16/16 -
5-112178231-C-T APC c.6940C>T p.Q2314* Nonsense 16/16 -
5-112178592-G-T APC c.7301G>T p.R2434I Missense 16/16 -
5-112177565-C-A APC c.6274C>A p.L2092I Missense 16/16 -
5-112177406-T-C APC c.6115T>C p.L2039= Synonymous 16/16 -
5-112177408-G-A APC c.6117G>A p.L2039= Synonymous 16/16 -
5-112179283-T-C APC c.7992T>C p.C2664= Synonymous 16/16 -
5-112175834-T-C APC c.4543T>C p.F1515L Missense 16/16 -
5-112175836-T-A APC c.4545T>A p.F1515L Missense 16/16 -
5-112175836-T-G APC c.4545T>G p.F1515L Missense 16/16 -
5-112177536-A-G APC c.6245A>G p.D2082G Missense 16/16 -
5-112177394-G-T APC c.6103G>T p.E2035* Nonsense 16/16 -
5-112179457-G-T APC c.8166G>T p.L2722= Synonymous 16/16 -
5-112179457-G-A APC c.8166G>A p.L2722= Synonymous 16/16 -
5-112179457-G-C APC c.8166G>C p.L2722= Synonymous 16/16 -
5-112179455-C-T APC c.8164C>T p.L2722= Synonymous 16/16 -
5-112170673-G-A APC c.1769G>A p.S590N Missense 15/16 -
5-112177779-A-G APC c.6488A>G p.K2163R Missense 16/16 -
5-112175249-G-A APC c.3958G>A p.V1320M Missense 16/16 -
5-112177859-G-T APC c.6568G>T p.G2190* Nonsense 16/16 -
5-112163682-T-G APC c.1605T>G p.S535= Synonymous 13/16 -
5-112163682-T-C APC c.1605T>C p.S535= Synonymous 13/16 -
5-112163682-T-A APC c.1605T>A p.S535= Synonymous 13/16 -
5-112177194-C-A APC c.5903C>A p.S1968Y Missense 16/16 -
5-112177725-G-A APC c.6434G>A p.G2145E Missense 16/16 -
5-112116585-G-C APC c.630G>C p.M210I Missense 6/16 -
5-112116585-G-A APC c.630G>A p.M210I Missense 6/16 -
5-112116585-G-T APC c.630G>T p.M210I Missense 6/16 -
5-112178901-CT-AA APC c.7610_7611delCTinsAA p.S2537* Nonsense 16/16 -
5-112179171-C-T APC c.7880C>T p.S2627F Missense 16/16 -
5-112177669-A-C APC c.6378A>C p.R2126S Missense 16/16 -
5-112177669-A-T APC c.6378A>T p.R2126S Missense 16/16 -
5-112174966-C-A APC c.3675C>A p.A1225= Synonymous 16/16 -
5-112174966-C-G APC c.3675C>G p.A1225= Synonymous 16/16 -
5-112174966-C-T APC c.3675C>T p.A1225= Synonymous 16/16 -
5-112179300-G-T APC c.8009G>T p.R2670I Missense 16/16 -
5-112177079-C-T APC c.5788C>T p.Q1930* Nonsense 16/16 -
5-112177905-C-A APC c.6614C>A p.S2205Y Missense 16/16 -
5-112178263-T-G APC c.6972T>G p.P2324= Synonymous 16/16 -
5-112178263-T-A APC c.6972T>A p.P2324= Synonymous 16/16 -
5-112178263-T-C APC c.6972T>C p.P2324= Synonymous 16/16 -
5-112178147-G-T APC c.6856G>T p.A2286S Missense 16/16 -
5-112178688-C-A APC c.7397C>A p.S2466Y Missense 16/16 -
5-112164597-A-C APC c.1671A>C p.V557= Synonymous 14/16 -
5-112164597-A-G APC c.1671A>G p.V557= Synonymous 14/16 -
5-112164597-A-T APC c.1671A>T p.V557= Synonymous 14/16 -
5-112178001-G-T APC c.6710G>T p.R2237L Missense 16/16 -
5-112179538-A-T APC c.8247A>T p.S2749= Synonymous 16/16 -
5-112179538-A-G APC c.8247A>G p.S2749= Synonymous 16/16 -
5-112179538-A-C APC c.8247A>C p.S2749= Synonymous 16/16 -
5-112174756-A-G APC c.3465A>G p.E1155= Synonymous 16/16 -
5-112174784-A-G APC c.3493A>G p.K1165E Missense 16/16 -
5-112176425-G-A APC c.5134G>A p.E1712K Missense 16/16 -
5-112170859-A-G APC c.1955A>G p.H652R Missense 15/16 -
5-112177098-C-A APC c.5807C>A p.S1936* Nonsense 16/16 -
5-112177098-C-G APC c.5807C>G p.S1936* Nonsense 16/16 -
5-112179050-G-A APC c.7759G>A p.E2587K Missense 16/16 -
5-112176877-G-T APC c.5586G>T p.L1862F Missense 16/16 -
5-112176877-G-C APC c.5586G>C p.L1862F Missense 16/16 -
5-112179666-A-G APC c.8375A>G p.K2792R Missense 16/16 -
5-112177279-G-A APC c.5988G>A p.Q1996= Synonymous 16/16 -
5-112178985-G-T APC c.7694G>T p.R2565I Missense 16/16 -
5-112178975-A-T APC c.7684A>T p.S2562C Missense 16/16 -
5-112090606-G-A APC c.19G>A p.D7N Missense 2/16 -
5-112157629-T-C APC c.1349T>C p.V450A Missense 11/16 -
5-112176769-G-A APC c.5478G>A p.K1826= Synonymous 16/16 -
5-112175566-T-C APC c.4275T>C p.D1425= Synonymous 16/16 -
5-112116490-T-C APC c.535T>C p.S179P Missense 6/16 -
5-112176864-G-T APC c.5573G>T p.R1858L Missense 16/16 -
5-112178168-G-T APC c.6877G>T p.G2293C Missense 16/16 -
5-112176826-T-C APC c.5535T>C p.H1845= Synonymous 16/16 -
5-112178922-CA-GT APC c.7631_7632delCAinsGT p.S2544C Missense 16/16 -
5-112179200-G-T APC c.7909G>T p.G2637C Missense 16/16 -
5-112176063-C-T APC c.4772C>T p.A1591V Missense 16/16 -
5-112116559-G-T APC c.604G>T p.E202* Nonsense 6/16 -
5-112128192-G-T APC c.695G>T p.R232L Missense 7/16 -
5-112179633-T-C APC c.8342T>C p.V2781A Missense 16/16 -
5-112177959-C-T APC c.6668C>T p.S2223L Missense 16/16 -
5-112174646-C-A APC c.3355C>A p.H1119N Missense 16/16 -
5-112175747-G-T APC c.4456G>T p.D1486Y Missense 16/16 -
5-112155019-C-T APC c.1290C>T p.G430= Synonymous 10/16 -
5-112155019-C-G APC c.1290C>G p.G430= Synonymous 10/16 -
5-112155019-C-A APC c.1290C>A p.G430= Synonymous 10/16 -
5-112175167-G-A APC c.3876G>A p.T1292= Synonymous 16/16 -
5-112175167-G-T APC c.3876G>T p.T1292= Synonymous 16/16 -
5-112175167-G-C APC c.3876G>C p.T1292= Synonymous 16/16 -
5-112175298-G-T APC c.4007G>T p.R1336I Missense 16/16 -
5-112175618-C-A APC c.4327C>A p.P1443T Missense 16/16 -
5-112176386-G-T APC c.5095G>T p.E1699* Nonsense 16/16 -
5-112177302-C-A APC c.6011C>A p.A2004E Missense 16/16 -
5-112176282-C-A APC c.4991C>A p.S1664Y Missense 16/16 -
5-112174814-C-A APC c.3523C>A p.Q1175K Missense 16/16 -
5-112175057-C-A APC c.3766C>A p.Q1256K Missense 16/16 -
5-112154896-C-T APC c.1167C>T p.N389= Synonymous 10/16 -
5-112173425-C-A APC c.2134C>A p.H712N Missense 16/16 -
5-112178552-T-A APC c.7261T>A p.S2421T Missense 16/16 -
5-112175276-C-A APC c.3985C>A p.H1329N Missense 16/16 -
5-112179664-G-C APC c.8373G>C p.R2791S Missense 16/16 -
5-112179664-G-T APC c.8373G>T p.R2791S Missense 16/16 -
5-112178781-C-A APC c.7490C>A p.S2497* Nonsense 16/16 -
5-112178846-G-T APC c.7555G>T p.D2519Y Missense 16/16 -
5-112090649-C-A APC c.62C>A p.S21* Nonsense 2/16 -
5-112175446-C-T APC c.4155C>T p.S1385= Synonymous 16/16 -
5-112174559-C-A APC c.3268C>A p.Q1090K Missense 16/16 -
5-112179500-G-T APC c.8209G>T p.E2737* Nonsense 16/16 -
5-112179446-G-T APC c.8155G>T p.E2719* Nonsense 16/16 -
5-112176210-G-T APC c.4919G>T p.R1640L Missense 16/16 -
5-112116578-A-G APC c.623A>G p.Q208R Missense 6/16 -
5-112154853-G-A APC c.1124G>A p.G375D Missense 10/16 -
5-112179775-C-A APC c.8484C>A p.T2828= Synonymous 16/16 -
5-112175724-G-T APC c.4433G>T p.R1478M Missense 16/16 -
5-112173261-G-T APC c.1970G>T p.R657I Missense 16/16 -
5-112177486-C-T APC c.6195C>T p.P2065= Synonymous 16/16 -
5-112177486-C-G APC c.6195C>G p.P2065= Synonymous 16/16 -
5-112177486-C-A APC c.6195C>A p.P2065= Synonymous 16/16 -
5-112175251-G-A APC c.3960G>A p.V1320= Synonymous 16/16 -
5-112175251-G-C APC c.3960G>C p.V1320= Synonymous 16/16 -
5-112175251-G-T APC c.3960G>T p.V1320= Synonymous 16/16 -
5-112176793-C-A APC c.5502C>A p.V1834= Synonymous 16/16 -
5-112176793-C-G APC c.5502C>G p.V1834= Synonymous 16/16 -
5-112176793-C-T APC c.5502C>T p.V1834= Synonymous 16/16 -
5-112176284-C-A APC c.4993C>A p.P1665T Missense 16/16 -
5-112178008-C-T APC c.6717C>T p.S2239= Synonymous 16/16 -
5-112102915-G-T APC c.250G>T p.G84* Nonsense 4/16 -
5-112154851-G-T APC c.1122G>T p.R374= Synonymous 10/16 -
5-112090721-A-G APC c.134A>G p.K45R Missense 2/16 -
5-112175568-G-A APC c.4277G>A p.S1426N Missense 16/16 -
5-112154821-C-T APC c.1092C>T p.D364= Synonymous 10/16 -
5-112177842-A-G APC c.6551A>G p.E2184G Missense 16/16 -
5-112178897-C-A APC c.7606C>A p.P2536T Missense 16/16 -
5-112157626-C-A APC c.1346C>A p.A449D Missense 11/16 -
5-112154947-C-A APC c.1218C>A p.V406= Synonymous 10/16 -
5-112154947-C-G APC c.1218C>G p.V406= Synonymous 10/16 -
5-112154947-C-T APC c.1218C>T p.V406= Synonymous 10/16 -
5-112177712-G-A APC c.6421G>A p.G2141R Missense 16/16 -
5-112177712-G-C APC c.6421G>C p.G2141R Missense 16/16 -
5-112154849-C-A APC c.1120C>A p.R374= Synonymous 10/16 -
5-112154851-G-A APC c.1122G>A p.R374= Synonymous 10/16 -
5-112154851-G-C APC c.1122G>C p.R374= Synonymous 10/16 -
5-112178922-C-A APC c.7631C>A p.S2544* Nonsense 16/16 -
5-112178922-C-G APC c.7631C>G p.S2544* Nonsense 16/16 -
5-112176588-A-G APC c.5297A>G p.D1766G Missense 16/16 -
5-112176534-A-G APC c.5243A>G p.D1748G Missense 16/16 -
5-112176446-G-T APC c.5155G>T p.E1719* Nonsense 16/16 -
5-112157594-G-C APC c.1314G>C p.M438I Missense 11/16 -
5-112176408-C-A APC c.5117C>A p.S1706* Nonsense 16/16 -
5-112176408-C-G APC c.5117C>G p.S1706* Nonsense 16/16 -
5-112179698-T-C APC c.8407T>C p.S2803P Missense 16/16 -
5-112176194-G-T APC c.4903G>T p.G1635W Missense 16/16 -
5-112175283-G-A APC c.3992G>A p.R1331K Missense 16/16 -
5-112175361-G-T APC c.4070G>T p.G1357V Missense 16/16 -
5-112175307-G-T APC c.4016G>T p.G1339V Missense 16/16 -
5-112176863-C-A APC c.5572C>A p.R1858= Synonymous 16/16 -
5-112176865-A-C APC c.5574A>C p.R1858= Synonymous 16/16 -
5-112176865-A-G APC c.5574A>G p.R1858= Synonymous 16/16 -
5-112176865-A-T APC c.5574A>T p.R1858= Synonymous 16/16 -
5-112176056-C-A APC c.4765C>A p.R1589S Missense 16/16 -
5-112157609-A-G APC c.1329A>G p.E443= Synonymous 11/16 -
5-112178805-G-T APC c.7514G>T p.R2505L Missense 16/16 -
5-112175858-A-C APC c.4567A>C p.R1523= Synonymous 16/16 -
5-112176511-T-G APC c.5220T>G p.P1740= Synonymous 16/16 -
5-112176511-T-A APC c.5220T>A p.P1740= Synonymous 16/16 -
5-112176511-T-C APC c.5220T>C p.P1740= Synonymous 16/16 -
5-112175557-T-C APC c.4266T>C p.D1422= Synonymous 16/16 -
5-112175781-C-T APC c.4490C>T p.P1497L Missense 16/16 -
5-112177099-A-T APC c.5808A>T p.S1936= Synonymous 16/16 -
5-112177099-A-G APC c.5808A>G p.S1936= Synonymous 16/16 -
5-112177099-A-C APC c.5808A>C p.S1936= Synonymous 16/16 -
5-112116588-A-G APC c.633A>G p.E211= Synonymous 6/16 -
5-112177256-G-A APC c.5965G>A p.E1989K Missense 16/16 -
5-112179387-A-G APC c.8096A>G p.D2699G Missense 16/16 -
5-112175190-A-G APC c.3899A>G p.N1300S Missense 16/16 -
5-112178875-T-C APC c.7584T>C p.I2528= Synonymous 16/16 -
5-112178875-T-A APC c.7584T>A p.I2528= Synonymous 16/16 -
5-112175112-G-A APC c.3821G>A p.C1274Y Missense 16/16 -
5-112154965-G-T APC c.1236G>T p.Q412H Missense 10/16 -
5-112154965-G-C APC c.1236G>C p.Q412H Missense 10/16 -
5-112154911-G-T APC c.1182G>T p.Q394H Missense 10/16 -
5-112154911-G-C APC c.1182G>C p.Q394H Missense 10/16 -
5-112151278-T-C APC c.921T>C p.H307= Synonymous 9/16 -
5-112179483-C-T APC c.8192C>T p.P2731L Missense 16/16 -
5-112179181-T-A APC c.7890T>A p.V2630= Synonymous 16/16 -
5-112179181-T-C APC c.7890T>C p.V2630= Synonymous 16/16 -
5-112179181-T-G APC c.7890T>G p.V2630= Synonymous 16/16 -
5-112178030-T-C APC c.6739T>C p.S2247P Missense 16/16 -
5-112177603-T-C APC c.6312T>C p.I2104= Synonymous 16/16 -
5-112177603-T-A APC c.6312T>A p.I2104= Synonymous 16/16 -
5-112179790-C-A APC c.8499C>A p.R2833= Synonymous 16/16 -
5-112173412-C-T APC c.2121C>T p.L707= Synonymous 16/16 -
5-112173412-C-G APC c.2121C>G p.L707= Synonymous 16/16 -
5-112173412-C-A APC c.2121C>A p.L707= Synonymous 16/16 -
5-112155004-A-G APC c.1275A>G p.E425= Synonymous 10/16 -
5-112154881-T-G APC c.1152T>G p.S384R Missense 10/16 -
5-112154881-T-A APC c.1152T>A p.S384R Missense 10/16 -
5-112154879-A-C APC c.1150A>C p.S384R Missense 10/16 -
5-112174334-G-T APC c.3043G>T p.D1015Y Missense 16/16 -
5-112177026-C-T APC c.5735C>T p.A1912V Missense 16/16 -
5-112175107-A-T APC c.3816A>T p.S1272= Synonymous 16/16 -
5-112175107-A-G APC c.3816A>G p.S1272= Synonymous 16/16 -
5-112175107-A-C APC c.3816A>C p.S1272= Synonymous 16/16 -
5-112178551-T-G APC c.7260T>G p.S2420= Synonymous 16/16 -
5-112178551-T-C APC c.7260T>C p.S2420= Synonymous 16/16 -
5-112178551-T-A APC c.7260T>A p.S2420= Synonymous 16/16 -
5-112177572-C-T APC c.6281C>T p.P2094L Missense 16/16 -
5-112177584-A-G APC c.6293A>G p.N2098S Missense 16/16 -
5-112175605-A-G APC c.4314A>G p.T1438= Synonymous 16/16 -
5-112175605-A-T APC c.4314A>T p.T1438= Synonymous 16/16 -
5-112175605-A-C APC c.4314A>C p.T1438= Synonymous 16/16 -
5-112175860-A-G APC c.4569A>G p.R1523= Synonymous 16/16 -
17-7579507-T-A TP53 c.180A>T p.P60= Synonymous 4/11 -
12-25380230-C-T KRAS c.228G>A p.E76= Synonymous 3/5 -
12-25380236-A-T KRAS c.222T>A p.T74= Synonymous 3/5 -
12-25380236-A-G KRAS c.222T>C p.T74= Synonymous 3/5 -
7-140500242-T-G BRAF c.900A>C p.I300= Synonymous 7/18 -
X-63411684-G-T AMER1 c.1483C>A p.L495I Missense 2/2 -
X-63411724-A-C AMER1 c.1443T>G p.D481E Missense 2/2 -
7-140500242-T-A BRAF c.900A>T p.I300= Synonymous 7/18 -
7-140439705-G-T BRAF c.2034C>A p.L678= Synonymous 17/18 -
X-63411622-A-C AMER1 c.1545T>G p.L515= Synonymous 2/2 -
X-63411622-A-T AMER1 c.1545T>A p.L515= Synonymous 2/2 -
X-63411622-A-G AMER1 c.1545T>C p.L515= Synonymous 2/2 -
X-63411619-C-T AMER1 c.1548G>A p.E516= Synonymous 2/2 -
X-63410555-C-A AMER1 c.2612G>T p.R871L Missense 2/2 -
X-63411624-G-T AMER1 c.1543C>A p.L515I Missense 2/2 -
X-63411162-C-A AMER1 c.2005G>T p.G669W Missense 2/2 -
X-63410560-G-A AMER1 c.2607C>T p.L869= Synonymous 2/2 -
X-63410560-G-C AMER1 c.2607C>G p.L869= Synonymous 2/2 -
X-63410560-G-T AMER1 c.2607C>A p.L869= Synonymous 2/2 -
X-63410667-G-T AMER1 c.2500C>A p.L834I Missense 2/2 -
X-63411419-G-T AMER1 c.1748C>A p.A583E Missense 2/2 -
X-63410178-G-A AMER1 c.2989C>T p.P997S Missense 2/2 -
X-63410932-G-A AMER1 c.2235C>T p.Y745= Synonymous 2/2 -
X-63410342-C-A AMER1 c.2825G>T p.R942L Missense 2/2 -
X-63410460-C-A AMER1 c.2707G>T p.E903* Nonsense 2/2 -
X-63410494-C-G AMER1 c.2673G>C p.R891S Missense 2/2 -
X-63410494-C-A AMER1 c.2673G>T p.R891S Missense 2/2 -
X-63411796-C-T AMER1 c.1371G>A p.Q457= Synonymous 2/2 -
X-63410525-C-A AMER1 c.2642G>T p.R881L Missense 2/2 -
X-63411397-G-T AMER1 c.1770C>A p.A590= Synonymous 2/2 -
X-63411397-G-C AMER1 c.1770C>G p.A590= Synonymous 2/2 -
X-63411397-G-A AMER1 c.1770C>T p.A590= Synonymous 2/2 -
X-63411412-G-T AMER1 c.1755C>A p.A585= Synonymous 2/2 -
X-63411412-G-C AMER1 c.1755C>G p.A585= Synonymous 2/2 -
X-63411412-G-A AMER1 c.1755C>T p.A585= Synonymous 2/2 -
X-63410988-T-C AMER1 c.2179A>G p.M727V Missense 2/2 -
X-63411058-C-G AMER1 c.2109G>C p.K703N Missense 2/2 -
X-63411058-C-A AMER1 c.2109G>T p.K703N Missense 2/2 -
X-63411437-T-C AMER1 c.1730A>G p.Q577R Missense 2/2 -
X-63411993-C-T AMER1 c.1174G>A p.E392K Missense 2/2 -
X-63410599-A-G AMER1 c.2568T>C p.S856= Synonymous 2/2 -
X-63411904-C-G AMER1 c.1263G>C p.M421I Missense 2/2 -
X-63411904-C-T AMER1 c.1263G>A p.M421I Missense 2/2 -
X-63411904-C-A AMER1 c.1263G>T p.M421I Missense 2/2 -
X-63411446-C-A AMER1 c.1721G>T p.R574L Missense 2/2 -
X-63411481-C-T AMER1 c.1686G>A p.V562= Synonymous 2/2 -
X-63411481-C-G AMER1 c.1686G>C p.V562= Synonymous 2/2 -
X-63411481-C-A AMER1 c.1686G>T p.V562= Synonymous 2/2 -
X-63411735-C-T AMER1 c.1432G>A p.G478R Missense 2/2 -
X-63411735-C-G AMER1 c.1432G>C p.G478R Missense 2/2 -
X-63411505-C-G AMER1 c.1662G>C p.M554I Missense 2/2 -
X-63411505-C-T AMER1 c.1662G>A p.M554I Missense 2/2 -
X-63411505-C-A AMER1 c.1662G>T p.M554I Missense 2/2 -
X-63411579-C-A AMER1 c.1588G>T p.G530C Missense 2/2 -
X-63411654-G-T AMER1 c.1513C>A p.L505I Missense 2/2 -
X-63411651-A-G AMER1 c.1516T>C p.Y506H Missense 2/2 -
X-63410117-C-A AMER1 c.3050G>T p.G1017V Missense 2/2 -
X-63411197-C-A AMER1 c.1970G>T p.R657M Missense 2/2 -
X-63411083-C-A AMER1 c.2084G>T p.W695L Missense 2/2 -
X-63411612-G-A AMER1 c.1555C>T p.P519S Missense 2/2 -
X-63411827-C-T AMER1 c.1340G>A p.G447D Missense 2/2 -
X-63411030-C-A AMER1 c.2137G>T p.D713Y Missense 2/2 -
X-63411135-G-T AMER1 c.2032C>A p.H678N Missense 2/2 -
X-63411625-G-C AMER1 c.1542C>G p.S514R Missense 2/2 -
X-63411625-G-T AMER1 c.1542C>A p.S514R Missense 2/2 -
X-63409960-G-C AMER1 c.3207C>G p.P1069= Synonymous 2/2 -
X-63411627-T-G AMER1 c.1540A>C p.S514R Missense 2/2 -
X-63410076-C-A AMER1 c.3091G>T p.G1031C Missense 2/2 -
X-63411677-C-A AMER1 c.1490G>T p.R497L Missense 2/2 -
X-63411623-A-T AMER1 c.1544T>A p.L515H Missense 2/2 -
X-63410986-C-G AMER1 c.2181G>C p.M727I Missense 2/2 -
X-63410986-C-T AMER1 c.2181G>A p.M727I Missense 2/2 -
X-63410986-C-A AMER1 c.2181G>T p.M727I Missense 2/2 -
X-63410156-G-A AMER1 c.3011C>T p.S1004L Missense 2/2 -
X-63410906-G-A AMER1 c.2261C>T p.P754L Missense 2/2 -
X-63410065-A-G AMER1 c.3102T>C p.Y1034= Synonymous 2/2 -
X-63411704-C-G AMER1 c.1463G>C p.G488A Missense 2/2 -
X-63411620-T-A AMER1 c.1547A>T p.E516V Missense 2/2 -
X-63413061-C-T AMER1 c.106G>A p.A36T Missense 2/2 -
X-63412752-T-A AMER1 c.415A>T p.T139S Missense 2/2 -
X-63409960-G-A AMER1 c.3207C>T p.P1069= Synonymous 2/2 -
X-63409960-G-T AMER1 c.3207C>A p.P1069= Synonymous 2/2 -
X-63409974-C-A AMER1 c.3193G>T p.G1065* Nonsense 2/2 -
X-63410218-A-C AMER1 c.2949T>G p.P983= Synonymous 2/2 -
X-63410218-A-T AMER1 c.2949T>A p.P983= Synonymous 2/2 -
X-63410218-A-G AMER1 c.2949T>C p.P983= Synonymous 2/2 -
X-63410043-G-T AMER1 c.3124C>A p.Q1042K Missense 2/2 -
X-63412735-C-G AMER1 c.432G>C p.K144N Missense 2/2 -
X-63412735-C-A AMER1 c.432G>T p.K144N Missense 2/2 -
X-63412942-C-A AMER1 c.225G>T p.G75= Synonymous 2/2 -
X-63412942-C-T AMER1 c.225G>A p.G75= Synonymous 2/2 -
X-63412942-C-G AMER1 c.225G>C p.G75= Synonymous 2/2 -
X-63412888-G-A AMER1 c.279C>T p.S93= Synonymous 2/2 -
X-63409870-G-A AMER1 c.3297C>T p.P1099= Synonymous 2/2 -
X-63409870-G-C AMER1 c.3297C>G p.P1099= Synonymous 2/2 -
X-63409870-G-T AMER1 c.3297C>A p.P1099= Synonymous 2/2 -
2-48027111-T-A MSH6 c.1989T>A p.T663= Synonymous 4/10 -
2-48027111-T-G MSH6 c.1989T>G p.T663= Synonymous 4/10 -
2-48027111-T-C MSH6 c.1989T>C p.T663= Synonymous 4/10 -
7-140500219-G-A BRAF c.923C>T p.A308V Missense 7/18 -
7-140501318-G-T BRAF c.754C>A p.R252= Synonymous 6/18 -
7-140501316-T-G BRAF c.756A>C p.R252= Synonymous 6/18 -
7-140501316-T-C BRAF c.756A>G p.R252= Synonymous 6/18 -
7-140501316-T-A BRAF c.756A>T p.R252= Synonymous 6/18 -
7-140449102-G-T BRAF c.1977C>A p.I659= Synonymous 16/18 -
7-140449102-G-A BRAF c.1977C>T p.I659= Synonymous 16/18 -
7-140507780-G-T BRAF c.691C>A p.P231T Missense 5/18 -
7-140481457-C-A BRAF c.1351G>T p.E451* Nonsense 11/18 -
7-140439660-C-G BRAF c.2079G>C p.M693I Missense 17/18 -
7-140439660-C-T BRAF c.2079G>A p.M693I Missense 17/18 -
7-140439660-C-A BRAF c.2079G>T p.M693I Missense 17/18 -
7-140508732-G-T BRAF c.568C>A p.L190I Missense 4/18 -
7-140507827-G-T BRAF c.644C>A p.S215Y Missense 5/18 -
7-140494194-C-A BRAF c.1054G>T p.D352Y Missense 8/18 -
7-140487365-C-A BRAF c.1160G>T p.G387V Missense 9/18 -
7-140439705-G-A BRAF c.2034C>T p.L678= Synonymous 17/18 -
7-140439705-G-C BRAF c.2034C>G p.L678= Synonymous 17/18 -
7-140482937-C-A BRAF c.1198G>T p.A400S Missense 10/18 -
7-140501340-G-T BRAF c.732C>A p.T244= Synonymous 6/18 -
7-140501340-G-C BRAF c.732C>G p.T244= Synonymous 6/18 -
7-140501340-G-A BRAF c.732C>T p.T244= Synonymous 6/18 -
7-140476880-C-A BRAF c.1526G>T p.R509L Missense 13/18 -
7-140453094-G-T BRAF c.1841C>A p.S614Y Missense 15/18 -
7-140477803-A-G BRAF c.1505T>C p.V502A Missense 12/18 -
7-140477828-G-A BRAF c.1480C>T p.Q494* Nonsense 12/18 -
7-140501223-A-G BRAF c.849T>C p.Y283= Synonymous 6/18 -
7-140500225-G-A BRAF c.917C>T p.S306F Missense 7/18 -
7-140439656-C-A BRAF c.2083G>T p.E695* Nonsense 17/18 -
7-140439676-G-T BRAF c.2063C>A p.A688D Missense 17/18 -
7-140494239-A-G BRAF c.1009T>C p.S337P Missense 8/18 -
7-140500240-G-T BRAF c.902C>A p.P301Q Missense 7/18 -
7-140501226-A-G BRAF c.846T>C p.N282= Synonymous 6/18 -
7-140449110-A-G BRAF c.1969T>C p.S657P Missense 16/18 -
X-63411724-A-T AMER1 c.1443T>A p.D481E Missense 2/2 -
X-63413141-G-A AMER1 c.26C>T p.A9V Missense 2/2 -
X-63410321-T-G AMER1 c.2846A>C p.Y949S Missense 2/2 -
X-63409834-C-G AMER1 c.3333G>C p.K1111N Missense 2/2 -
X-63410367-C-A AMER1 c.2800G>T p.E934* Nonsense 2/2 -
X-63410628-G-A AMER1 c.2539C>T p.H847Y Missense 2/2 -
X-63411806-A-G AMER1 c.1361T>C p.L454S Missense 2/2 -
X-63410519-G-A AMER1 c.2648C>T p.P883L Missense 2/2 -
X-63413033-G-T AMER1 c.134C>A p.S45Y Missense 2/2 -
X-63412617-C-T AMER1 c.550G>A p.V184I Missense 2/2 -
X-63412430-G-T AMER1 c.737C>A p.S246Y Missense 2/2 -
X-63411813-C-A AMER1 c.1354G>T p.E452* Nonsense 2/2 -
X-63411144-G-A AMER1 c.2023C>T p.Q675* Nonsense 2/2 -
X-63412687-G-A AMER1 c.480C>T p.P160= Synonymous 2/2 -
X-63412687-G-C AMER1 c.480C>G p.P160= Synonymous 2/2 -
X-63412687-G-T AMER1 c.480C>A p.P160= Synonymous 2/2 -
X-63411275-C-A AMER1 c.1892G>T p.R631L Missense 2/2 -
X-63411106-G-T AMER1 c.2061C>A p.T687= Synonymous 2/2 -
X-63411106-G-C AMER1 c.2061C>G p.T687= Synonymous 2/2 -
X-63411106-G-A AMER1 c.2061C>T p.T687= Synonymous 2/2 -
X-63410395-C-T AMER1 c.2772G>A p.Q924= Synonymous 2/2 -
X-63411157-T-G AMER1 c.2010A>C p.V670= Synonymous 2/2 -
X-63411157-T-C AMER1 c.2010A>G p.V670= Synonymous 2/2 -
X-63411157-T-A AMER1 c.2010A>T p.V670= Synonymous 2/2 -
X-63412405-G-T AMER1 c.762C>A p.A254= Synonymous 2/2 -
X-63412405-G-C AMER1 c.762C>G p.A254= Synonymous 2/2 -
X-63412405-G-A AMER1 c.762C>T p.A254= Synonymous 2/2 -
X-63410555-C-T AMER1 c.2612G>A p.R871Q Missense 2/2 -
X-63410557-A-C AMER1 c.2610T>G p.P870= Synonymous 2/2 -
X-63410557-A-T AMER1 c.2610T>A p.P870= Synonymous 2/2 -
X-63410557-A-G AMER1 c.2610T>C p.P870= Synonymous 2/2 -
X-63411439-C-T AMER1 c.1728G>A p.E576= Synonymous 2/2 -
X-63411391-C-G AMER1 c.1776G>C p.E592D Missense 2/2 -
X-63411391-C-A AMER1 c.1776G>T p.E592D Missense 2/2 -
X-63412899-G-T AMER1 c.268C>A p.L90I Missense 2/2 -
X-63411680-G-T AMER1 c.1487C>A p.P496H Missense 2/2 -
X-63412996-C-G AMER1 c.171G>C p.M57I Missense 2/2 -
X-63412996-C-A AMER1 c.171G>T p.M57I Missense 2/2 -
X-63412548-G-A AMER1 c.619C>T p.H207Y Missense 2/2 -
X-63412195-T-A AMER1 c.972A>T p.S324= Synonymous 2/2 -
X-63412195-T-C AMER1 c.972A>G p.S324= Synonymous 2/2 -
X-63412195-T-G AMER1 c.972A>C p.S324= Synonymous 2/2 -
X-63413059-C-T AMER1 c.108G>A p.A36= Synonymous 2/2 -
X-63413059-C-G AMER1 c.108G>C p.A36= Synonymous 2/2 -
X-63413059-C-A AMER1 c.108G>T p.A36= Synonymous 2/2 -
X-63412854-C-A AMER1 c.313G>T p.G105C Missense 2/2 -
X-63411169-C-A AMER1 c.1998G>T p.L666= Synonymous 2/2 -
X-63411169-C-G AMER1 c.1998G>C p.L666= Synonymous 2/2 -
X-63411171-G-A AMER1 c.1996C>T p.L666= Synonymous 2/2 -
X-63412751-G-A AMER1 c.416C>T p.T139I Missense 2/2 -
X-63412497-G-T AMER1 c.670C>A p.P224T Missense 2/2 -
X-63411881-G-A AMER1 c.1286C>T p.T429I Missense 2/2 -
X-63410199-T-C AMER1 c.2968A>G p.R990G Missense 2/2 -
X-63413085-C-A AMER1 c.82G>T p.G28* Nonsense 2/2 -
X-63413077-C-G AMER1 c.90G>C p.K30N Missense 2/2 -
X-63413077-C-A AMER1 c.90G>T p.K30N Missense 2/2 -
X-63412506-A-G AMER1 c.661T>C p.F221L Missense 2/2 -
X-63412504-G-T AMER1 c.663C>A p.F221L Missense 2/2 -
X-63412504-G-C AMER1 c.663C>G p.F221L Missense 2/2 -
X-63412717-G-T AMER1 c.450C>A p.A150= Synonymous 2/2 -
X-63412717-G-C AMER1 c.450C>G p.A150= Synonymous 2/2 -
X-63412717-G-A AMER1 c.450C>T p.A150= Synonymous 2/2 -
X-63410539-A-C AMER1 c.2628T>G p.P876= Synonymous 2/2 -
X-63410539-A-T AMER1 c.2628T>A p.P876= Synonymous 2/2 -
X-63410539-A-G AMER1 c.2628T>C p.P876= Synonymous 2/2 -
X-63411098-C-A AMER1 c.2069G>T p.S690I Missense 2/2 -
X-63412102-C-T AMER1 c.1065G>A p.G355= Synonymous 2/2 -
X-63412102-C-G AMER1 c.1065G>C p.G355= Synonymous 2/2 -
X-63412520-C-T AMER1 c.647G>A p.C216Y Missense 2/2 -
X-63412805-G-T AMER1 c.362C>A p.P121H Missense 2/2 -
X-63412778-G-T AMER1 c.389C>A p.S130Y Missense 2/2 -
X-63410204-G-A AMER1 c.2963C>T p.P988L Missense 2/2 -
X-63411871-G-A AMER1 c.1296C>T p.G432= Synonymous 2/2 -
X-63411871-G-C AMER1 c.1296C>G p.G432= Synonymous 2/2 -
X-63411871-G-T AMER1 c.1296C>A p.G432= Synonymous 2/2 -
X-63410347-C-A AMER1 c.2820G>T p.W940C Missense 2/2 -
X-63410347-C-G AMER1 c.2820G>C p.W940C Missense 2/2 -
X-63412071-G-T AMER1 c.1096C>A p.Q366K Missense 2/2 -
X-63412110-G-T AMER1 c.1057C>A p.R353= Synonymous 2/2 -
X-63412108-T-G AMER1 c.1059A>C p.R353= Synonymous 2/2 -
X-63412108-T-C AMER1 c.1059A>G p.R353= Synonymous 2/2 -
X-63412108-T-A AMER1 c.1059A>T p.R353= Synonymous 2/2 -
7-140501344-A-G BRAF c.728T>C p.F243S Missense 6/18 -
7-140508777-C-T BRAF c.523G>A p.V175I Missense 4/18 -
7-140476753-G-T BRAF c.1653C>A p.I551= Synonymous 13/18 -
7-140476753-G-A BRAF c.1653C>T p.I551= Synonymous 13/18 -
7-140476866-G-T BRAF c.1540C>A p.L514I Missense 13/18 -
7-140501220-G-A BRAF c.852C>T p.D284= Synonymous 6/18 -
7-140508768-G-T BRAF c.532C>A p.R178= Synonymous 4/18 -
7-140508766-T-G BRAF c.534A>C p.R178= Synonymous 4/18 -
7-140508766-T-C BRAF c.534A>G p.R178= Synonymous 4/18 -
7-140508766-T-A BRAF c.534A>T p.R178= Synonymous 4/18 -
7-140494197-C-T BRAF c.1051G>A p.E351K Missense 8/18 -
7-140494255-G-C BRAF c.993C>G p.L331= Synonymous 8/18 -
7-140494255-G-T BRAF c.993C>A p.L331= Synonymous 8/18 -
7-140476841-T-C BRAF c.1565A>G p.K522R Missense 13/18 -
7-140501242-G-T BRAF c.830C>A p.P277Q Missense 6/18 -
7-140534477-G-T BRAF c.436C>A p.R146= Synonymous 3/18 -
7-140534475-C-T BRAF c.438G>A p.R146= Synonymous 3/18 -
7-140534475-C-G BRAF c.438G>C p.R146= Synonymous 3/18 -
7-140476862-A-G BRAF c.1544T>C p.L515P Missense 13/18 -
7-140549916-G-T BRAF c.235C>A p.L79M Missense 2/18 -
7-140439657-T-G BRAF c.2082A>C p.A694= Synonymous 17/18 -
7-140439657-T-C BRAF c.2082A>G p.A694= Synonymous 17/18 -
7-140439657-T-A BRAF c.2082A>T p.A694= Synonymous 17/18 -
7-140476849-A-G BRAF c.1557T>C p.Y519= Synonymous 13/18 -
17-70117742-C-G SOX9 c.210C>G p.P70= Synonymous 1/3 -
17-70119928-C-T SOX9 c.930C>T p.H310= Synonymous 3/3 -
17-70117829-C-A SOX9 c.297C>A p.S99R Missense 1/3 -
17-70117827-A-C SOX9 c.295A>C p.S99R Missense 1/3 -
17-70117707-G-T SOX9 c.175G>T p.D59Y Missense 1/3 -
17-70117712-G-T SOX9 c.180G>T p.L60= Synonymous 1/3 -
17-70117712-G-A SOX9 c.180G>A p.L60= Synonymous 1/3 -
17-70117712-G-C SOX9 c.180G>C p.L60= Synonymous 1/3 -
17-70117710-C-T SOX9 c.178C>T p.L60= Synonymous 1/3 -
17-70119088-G-C SOX9 c.660G>C p.E220D Missense 2/3 -
17-70119088-G-T SOX9 c.660G>T p.E220D Missense 2/3 -
17-70117758-G-T SOX9 c.226G>T p.A76S Missense 1/3 -
17-70120179-G-T SOX9 c.1181G>T p.R394L Missense 3/3 -
17-70118911-G-T SOX9 c.483G>T p.L161= Synonymous 2/3 -
17-70118911-G-C SOX9 c.483G>C p.L161= Synonymous 2/3 -
17-70118909-C-T SOX9 c.481C>T p.L161= Synonymous 2/3 -
17-70118866-G-T SOX9 c.438G>T p.L146= Synonymous 2/3 -
17-70119103-C-G SOX9 c.675C>G p.G225= Synonymous 2/3 -
17-70119103-C-A SOX9 c.675C>A p.G225= Synonymous 2/3 -
17-70120294-C-T SOX9 c.1296C>T p.Y432= Synonymous 3/3 -
17-70118874-G-T SOX9 c.446G>T p.S149I Missense 2/3 -
17-70117688-G-A SOX9 c.156G>A p.T52= Synonymous 1/3 -
17-70117688-G-T SOX9 c.156G>T p.T52= Synonymous 1/3 -
17-70117688-G-C SOX9 c.156G>C p.T52= Synonymous 1/3 -
17-70119981-C-T SOX9 c.983C>T p.P328L Missense 3/3 -
17-70119974-G-T SOX9 c.976G>T p.A326S Missense 3/3 -
17-70119759-G-T SOX9 c.761G>T p.R254L Missense 3/3 -
17-70119902-G-T SOX9 c.904G>T p.G302C Missense 3/3 -
17-70119912-G-T SOX9 c.914G>T p.G305V Missense 3/3 -
17-70117616-G-C SOX9 c.84G>C p.E28D Missense 1/3 -
17-70117616-G-T SOX9 c.84G>T p.E28D Missense 1/3 -
17-70120319-G-T SOX9 c.1321G>T p.D441Y Missense 3/3 -
17-70120419-G-T SOX9 c.1421G>T p.R474L Missense 3/3 -
17-70118998-G-C SOX9 c.570G>C p.E190D Missense 2/3 -
17-70118998-G-T SOX9 c.570G>T p.E190D Missense 2/3 -
17-70120300-C-T SOX9 c.1302C>T p.P434= Synonymous 3/3 -
17-70120300-C-G SOX9 c.1302C>G p.P434= Synonymous 3/3 -
17-70120300-C-A SOX9 c.1302C>A p.P434= Synonymous 3/3 -
17-70119028-C-T SOX9 c.600C>T p.P200= Synonymous 2/3 -
17-70119028-C-G SOX9 c.600C>G p.P200= Synonymous 2/3 -
17-70119028-C-A SOX9 c.600C>A p.P200= Synonymous 2/3 -
17-70117727-G-A SOX9 c.195G>A p.E65= Synonymous 1/3 -
17-70120390-C-T SOX9 c.1392C>T p.S464= Synonymous 3/3 -
17-70120390-C-G SOX9 c.1392C>G p.S464= Synonymous 3/3 -
17-70120390-C-A SOX9 c.1392C>A p.S464= Synonymous 3/3 -
17-70117742-C-T SOX9 c.210C>T p.P70= Synonymous 1/3 -
17-70117742-C-A SOX9 c.210C>A p.P70= Synonymous 1/3 -
17-70117674-C-A SOX9 c.142C>A p.P48T Missense 1/3 -
17-70117655-G-T SOX9 c.123G>T p.S41= Synonymous 1/3 -
17-70117655-G-C SOX9 c.123G>C p.S41= Synonymous 1/3 -
17-70117655-G-A SOX9 c.123G>A p.S41= Synonymous 1/3 -
17-70117775-C-T SOX9 c.243C>T p.L81= Synonymous 1/3 -
17-70117775-C-G SOX9 c.243C>G p.L81= Synonymous 1/3 -
17-70117775-C-A SOX9 c.243C>A p.L81= Synonymous 1/3 -
17-70120328-G-T SOX9 c.1330G>T p.D444Y Missense 3/3 -
17-70119946-G-T SOX9 c.948G>T p.T316= Synonymous 3/3 -
17-70119946-G-C SOX9 c.948G>C p.T316= Synonymous 3/3 -
17-70117817-C-A SOX9 c.285C>A p.V95= Synonymous 1/3 -
17-70117817-C-G SOX9 c.285C>G p.V95= Synonymous 1/3 -
17-70117817-C-T SOX9 c.285C>T p.V95= Synonymous 1/3 -
17-70119868-T-C SOX9 c.870T>C p.D290= Synonymous 3/3 -
17-70117808-G-A SOX9 c.276G>A p.P92= Synonymous 1/3 -
17-70117808-G-C SOX9 c.276G>C p.P92= Synonymous 1/3 -
17-70119739-G-T SOX9 c.741G>T p.P247= Synonymous 3/3 -
17-70119739-G-A SOX9 c.741G>A p.P247= Synonymous 3/3 -
17-70119739-G-C SOX9 c.741G>C p.P247= Synonymous 3/3 -
17-70119961-C-A SOX9 c.963C>A p.I321= Synonymous 3/3 -
17-70119961-C-T SOX9 c.963C>T p.I321= Synonymous 3/3 -
17-70117562-G-C SOX9 c.30G>C p.M10I Missense 1/3 -
17-70117562-G-A SOX9 c.30G>A p.M10I Missense 1/3 -
17-70117562-G-T SOX9 c.30G>T p.M10I Missense 1/3 -
17-70119993-G-C SOX9 c.995G>C p.G332A Missense 3/3 -
17-70120123-G-T SOX9 c.1125G>T p.Q375H Missense 3/3 -
17-70120123-G-C SOX9 c.1125G>C p.Q375H Missense 3/3 -
17-70120477-C-G SOX9 c.1479C>G p.H493Q Missense 3/3 -
17-70119827-G-T SOX9 c.829G>T p.E277* Nonsense 3/3 -
7-140449131-T-C BRAF c.1948A>G p.M650V Missense 16/18 -
7-140508781-A-G BRAF c.519T>C p.C173= Synonymous 4/18 -
7-140501352-T-C BRAF c.720A>G p.K240= Synonymous 6/18 -
17-70118866-G-A SOX9 c.438G>A p.L146= Synonymous 2/3 -
17-70118866-G-C SOX9 c.438G>C p.L146= Synonymous 2/3 -
17-70118864-C-T SOX9 c.436C>T p.L146= Synonymous 2/3 -
17-70119895-G-T SOX9 c.897G>T p.P299= Synonymous 3/3 -
17-70119895-G-A SOX9 c.897G>A p.P299= Synonymous 3/3 -
17-70119895-G-C SOX9 c.897G>C p.P299= Synonymous 3/3 -
17-70120333-C-T SOX9 c.1335C>T p.H445= Synonymous 3/3 -
17-70119812-G-T SOX9 c.814G>T p.D272Y Missense 3/3 -
17-70117594-C-T SOX9 c.62C>T p.A21V Missense 1/3 -
17-70120189-C-A SOX9 c.1191C>A p.I397= Synonymous 3/3 -
17-70120189-C-T SOX9 c.1191C>T p.I397= Synonymous 3/3 -
17-70117682-G-C SOX9 c.150G>C p.E50D Missense 1/3 -
17-70117682-G-T SOX9 c.150G>T p.E50D Missense 1/3 -
17-70117549-C-A SOX9 c.17C>A p.P6H Missense 1/3 -
17-70119802-C-A SOX9 c.804C>A p.I268= Synonymous 3/3 -
17-70119802-C-T SOX9 c.804C>T p.I268= Synonymous 3/3 -
17-70117829-C-G SOX9 c.297C>G p.S99R Missense 1/3 -
17-70119103-C-T SOX9 c.675C>T p.G225= Synonymous 2/3 -