PMID: 22703879

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

American journal of human genetics
JJ Johnston, WS Rubinstein, FM Facio, D Ng, LN Singh, JK Teer, JC Mullikin, LG Biesecker
2012-07-13

455 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
5-112102982-G-A APC c.317G>A p.Arg106His Missense 4/16 -
1-161326532-G-C SDHC c.307G>C p.Val103Leu Missense 5/6 -
16-2134508-G-T TSC2 c.4285G>T p.Ala1429Ser Missense 34/42 -
13-32893271-A-G BRCA2 c.125A>G p.Tyr42Cys Missense 3/27 -
7-116418845-G-C MET c.3356G>C p.Gly1119Ala Missense 17/21 -
13-32913690-C-T BRCA2 c.5198C>T p.Ser1733Phe Missense 11/27 -
13-32913804-G-A BRCA2 c.5312G>A p.Gly1771Asp Missense 11/27 -
9-21974640-C-G CDKN2A c.150+37G>C - IntronicSNV - 1/2
9-135779052-G-A TSC1 c.2194C>T p.His732Tyr Missense 17/23 -
9-98231193-A-C PTCH1 c.2090T>G p.Leu697Arg Missense 14/24 -
16-68857442-G-A CDH1 c.2077G>A p.Gly693Ser Missense 13/16 -
11-64575048-C-G MEN1 c.774G>C p.Ser258Ser Synonymous 4/10 -
13-32972761-A-G BRCA2 c.10111A>G p.Thr3371Ala Missense 27/27 -
17-41223048-A-G BRCA1 c.4883T>C p.Met1628Thr Missense 15/23 -
13-32911463-A-G BRCA2 c.2971A>G p.Asn991Asp Missense 11/27 -
10-43610119-G-A RET c.2071G>A p.Gly691Ser Missense 11/20 -
3-37092025-C-T MLH1 c.2152C>T p.His718Tyr Missense 19/19 -
2-47698159-G-A MSH2 c.1717G>A p.Ala573Thr Missense 11/16 -
7-116339141-G-A MET c.3G>A p.Met1Ile Missense 2/21 -
13-32907179-G-C BRCA2 c.1564G>C p.Gly522Arg Missense 10/27 -
17-41222975-C-T BRCA1 c.4956G>A p.Met1652Ile Missense 15/23 -
9-98209214-G-A PTCH1 c.4324C>T p.Arg1442Trp Missense 23/24 -
11-111957665-G-A SDHD c.34G>A p.Gly12Ser Missense 1/4 -
17-41251884-A-G BRCA1 c.455T>C p.Leu152Pro Missense 7/23 -
7-6017265-G-A PMS2 c.2399C>T p.Pro800Leu Missense 14/15 -
17-17124835-A-T FLCN c.887T>A p.Leu296Gln Missense 8/8 -
11-111958677-A-G SDHD c.149A>G p.His50Arg Missense 2/4 -
2-48026308-C-G MSH6 c.1186C>G p.Leu396Val Missense 4/10 -
7-116340186-A-C MET c.1048A>C p.Lys350Gln Missense 2/21 -
7-6026959-G-C PMS2 c.1437C>G p.His479Gln Missense 11/15 -
2-47702191-A-G MSH2 c.1787A>G p.Asn596Ser Missense 12/16 -
9-98268777-C-G PTCH1 c.306G>C p.Leu102Phe Missense 2/24 -
9-135779171-C-T TSC1 c.2075G>A p.Arg692Gln Missense 17/23 -
16-2112558-G-A TSC2 c.1318G>A p.Gly440Ser Missense 13/42 -
7-6031639-T-C PMS2 c.953A>G p.Tyr318Cys Missense 9/15 -
1-17354297-A-G SDHB c.487T>C p.Ser163Pro Missense 5/8 -
10-43615129-T-C RET c.2543T>C p.Met848Thr Missense 14/20 -
10-43615129-T-A RET c.2543T>A p.Met848Lys Missense 14/20 -
2-47702368-T-C MSH2 c.1964T>C p.Val655Ala Missense 12/16 -
7-116339140-T-C MET c.2T>C p.Met1Thr Missense 2/21 -
16-2133798-G-A TSC2 c.3986G>A p.Arg1329His Missense 33/42 -
7-6045634-T-C PMS2 c.52A>G p.Ile18Val Missense 2/15 -
2-48033622-C-G MSH6 c.3833C>G p.Pro1278Arg Missense 9/10 -
13-49033829-C-T RB1 c.1966C>T p.Arg656Trp Missense 20/27 -
13-32906637-G-T BRCA2 c.1022G>T p.Cys341Phe Missense 10/27 -
13-32945172-A-C BRCA2 c.8567A>C p.Glu2856Ala Missense 20/27 -
4-55133770-A-T PDGFRA c.983A>T p.Asn328Ile Missense 7/23 -
4-55561809-A-G KIT c.199A>G p.Thr67Ala Missense 2/21 -
5-112173588-C-T APC c.2297C>T p.Ala766Val Missense 16/16 -
9-135772927-G-C TSC1 c.2696C>G p.Thr899Ser Missense 21/23 -
11-61205157-C-T SDHAF2 c.97C>T p.Arg33Cys Missense 2/4 -
16-2134448-C-T TSC2 c.4225C>T p.Arg1409Trp Missense 34/42 -
1-193202272-T-C CDC73 c.1304T>C p.Met435Thr Missense 14/17 -
5-112103053-A-G APC c.388A>G p.Ser130Gly Missense 4/16 -
9-98268850-CCAC-C PTCH1 c.232_234delTGG p.Trp78delTrp InFrameDeletion 2/24 -
7-6026988-G-A PMS2 c.1408C>T p.Pro470Ser Missense 11/15 -
5-112174464-A-G APC c.3173A>G p.Asp1058Gly Missense 16/16 -
7-116339745-T-A MET c.607T>A p.Ser203Thr Missense 2/21 -
7-6026607-T-A PMS2 c.1789A>T p.Thr597Ser Missense 11/15 -
17-41243725-T-C BRCA1 c.3823A>G p.Ile1275Val Missense 10/23 -
16-2133701-G-A TSC2 c.3889G>A p.Ala1297Thr Missense 33/42 -
17-29556218-C-G NF1 c.2585C>G p.Thr862Ser Missense 21/57 -
2-48028160-A-C MSH6 c.3038A>C p.Lys1013Thr Missense 4/10 -
4-55156496-A-G PDGFRA c.2897A>G p.His966Arg Missense 22/23 -
16-2112580-C-T TSC2 c.1340C>T p.Ala447Val Missense 13/42 -
7-6022480-C-T PMS2 c.2149G>A p.Val717Met Missense 12/15 -
10-88683473-C-G BMPR1A c.1596C>G p.Ile532Met Missense 13/13 -
5-112178015-A-G APC c.6724A>G p.Ser2242Gly Missense 16/16 -
7-6017331-A-G PMS2 c.2333T>C p.Phe778Ser Missense 14/15 -
4-55569909-A-G KIT c.776A>G p.Tyr259Cys Missense 5/21 -
9-21970916-C-T CDKN2A c.442G>A p.Ala148Thr Missense 2/3 -
16-2108821-C-G TSC2 c.922C>G p.Arg308Gly Missense 10/42 -
13-32907407-A-G BRCA2 c.1792A>G p.Thr598Ala Missense 10/27 -
2-48026989-C-G MSH6 c.1867C>G p.Pro623Ala Missense 4/10 -
4-55136805-G-A PDGFRA c.1127G>A p.Arg376Gln Missense 8/23 -
5-112174677-T-C APC c.3386T>C p.Leu1129Ser Missense 16/16 -
7-116395446-G-C MET c.1739G>C p.Arg580Thr Missense 6/21 -
13-32918706-A-G BRCA2 c.6853A>G p.Ile2285Val Missense 12/27 -
13-32937636-AC-A BRCA2 c.8297delC p.Thr2766Asnfs*11 Frameshift 18/27 -
2-47630334-G-A MSH2 c.4G>A p.Ala2Thr Missense 1/16 -
7-116371827-G-C MET c.1306G>C p.Glu436Gln Missense 3/21 -
10-88681353-G-A BMPR1A c.1243G>A p.Glu415Lys Missense 11/13 -
17-29550554-T-C NF1 c.1814T>C p.Ile605Thr Missense 16/57 -
17-41244524-C-T BRCA1 c.3024G>A p.Met1008Ile Missense 10/23 -
1-241676935-T-A FH c.346A>T p.Ile116Phe Missense 3/10 -
9-135781005-G-C TSC1 c.1960C>G p.Gln654Glu Missense 15/23 -
5-112137067-C-T APC c.821C>T p.Ser274Phe Missense 8/16 -
10-89690828-G-A PTEN c.235G>A p.Ala79Thr Missense 4/9 -
9-135781205-T-C TSC1 c.1760A>G p.Lys587Arg Missense 15/23 -
1-161326623-G-A SDHC c.398G>A p.Arg133Gln Missense 5/6 -
3-37092019-G-A MLH1 c.2146G>A p.Val716Met Missense 19/19 -
16-2120559-G-A TSC2 c.1819G>A p.Ala607Thr Missense 17/42 -
1-241669324-C-T FH c.883G>A p.Ala295Thr Missense 6/10 -
4-55138648-T-C PDGFRA c.1325T>C p.Leu442Pro Missense 9/23 -
2-47643436-G-T MSH2 c.944G>T p.Gly315Val Missense 6/16 -
9-98229479-T-C PTCH1 c.2479A>G p.Ser827Gly Missense 15/24 -
7-116371753-C-T MET c.1232C>T p.Ala411Val Missense 3/21 -
9-98270610-C-T PTCH1 c.34G>A p.Asp12Asn Missense 1/24 -
7-6037052-C-A PMS2 c.708G>T p.Leu236Phe Missense 7/15 -
17-17131355-C-G FLCN c.97G>C p.Asp33His Missense 4/8 -
3-37089086-C-G MLH1 c.1808C>G p.Pro603Arg Missense 16/19 -
17-41244952-G-A BRCA1 c.2596C>T p.Arg866Cys Missense 10/23 -
13-32914046-G-T BRCA2 c.5554G>T p.Val1852Phe Missense 11/27 -
17-41243422-G-A BRCA1 c.4096+30C>T - IntronicSNV - 10/22
7-116371813-T-C MET c.1292T>C p.Met431Thr Missense 3/21 -
7-6026775-T-C PMS2 c.1621A>G p.Lys541Glu Missense 11/15 -
5-112179057-A-G APC c.7766A>G p.Glu2589Gly Missense 16/16 -
13-32907504-C-T BRCA2 c.1889C>T p.Thr630Ile Missense 10/27 -
18-48575682-C-A SMAD4 c.442C>A p.Leu148Met Missense 4/12 -
7-6013049-C-G PMS2 c.2570G>C p.Gly857Ala Missense 15/15 -
7-6026865-T-C PMS2 c.1531A>G p.Thr511Ala Missense 11/15 -
7-6045627-C-T PMS2 c.59G>A p.Arg20Gln Missense 2/15 -
16-68855981-C-T CDH1 c.1789C>T p.Pro597Ser Missense 12/16 -
5-112176516-G-A APC c.5225G>A p.Arg1742His Missense 16/16 -
1-45800150-T-C MUTYH c.70A>G p.Ser24Gly Missense 2/16 -
16-2138508-G-C TSC2 c.5321G>C p.Ser1774Thr Missense 42/42 -
16-2120487-G-A TSC2 c.1747G>A p.Ala583Thr Missense 17/42 -
16-2114287-C-G TSC2 c.1458C>G p.Asn486Lys Missense 15/42 -
13-32912073-G-A BRCA2 c.3581G>A p.Gly1194Asp Missense 11/27 -
7-116403122-A-G MET c.2383A>G p.Asn795Asp Missense 11/21 -
4-55130065-C-G PDGFRA c.599C>G p.Thr200Ser Missense 4/23 -
5-112175240-G-C APC c.3949G>C p.Glu1317Gln Missense 16/16 -
17-29422331-G-A NF1 c.4G>A p.Ala2Thr Missense 1/57 -
13-32914224-A-T BRCA2 c.5732A>T p.Asp1911Val Missense 11/27 -
7-6026864-G-A PMS2 c.1532C>T p.Thr511Met Missense 11/15 -
11-111965614-T-G SDHD c.400T>G p.Leu134Val Missense 4/4 -
4-55569972-C-T KIT c.839C>T p.Ala280Val Missense 5/21 -
17-29483010-A-G NF1 c.70A>G p.Lys24Glu Missense 2/57 -
7-116339139-A-G MET c.1A>G p.Met1Val Missense 2/21 -
9-135787731-C-T TSC1 c.851G>A p.Arg284His Missense 9/23 -
7-6026601-C-T PMS2 c.1795G>A p.Asp599Asn Missense 11/15 -
10-43600607-C-A RET c.833C>A p.Thr278Asn Missense 4/20 -
9-98244269-C-A PTCH1 c.708G>T p.Trp236Cys Missense 5/24 -
3-37067306-G-A MLH1 c.1217G>A p.Ser406Asn Missense 12/19 -
5-112174643-A-G APC c.3352A>G p.Asn1118Asp Missense 16/16 -
5-112173968-G-A APC c.2677G>A p.Glu893Lys Missense 16/16 -
16-2135245-G-T TSC2 c.4584G>T p.Glu1528Asp Missense 36/42 -
17-41219694-C-A BRCA1 c.5005G>T p.Ala1669Ser Missense 16/23 -
17-41245233-A-G BRCA1 c.2315T>C p.Val772Ala Missense 10/23 -
13-32953971-C-T BRCA2 c.9038C>T p.Thr3013Ile Missense 23/27 -
5-112175675-A-G APC c.4384A>G p.Lys1462Glu Missense 16/16 -
7-116436156-C-G MET c.4151C>G p.Ala1384Gly Missense 21/21 -
1-161326566-A-T SDHC c.341A>T p.His114Leu Missense 5/6 -
17-41244130-T-C BRCA1 c.3418A>G p.Ser1140Gly Missense 10/23 -
2-48030603-C-T MSH6 c.3217C>T p.Pro1073Ser Missense 5/10 -
7-116371918-G-A MET c.1392+5G>A - IntronicSNV - 3/20
7-116340157-A-G MET c.1019A>G p.Asp340Gly Missense 2/21 -
9-98212185-C-T PTCH1 c.3487G>A p.Gly1163Ser Missense 21/24 -
7-116340318-C-A MET c.1180C>A p.His394Asn Missense 2/21 -
13-32953640-G-A BRCA2 c.8941G>A p.Glu2981Lys Missense 22/27 -
13-32910842-A-G BRCA2 c.2350A>G p.Met784Val Missense 11/27 -
13-32953550-G-A BRCA2 c.8851G>A p.Ala2951Thr Missense 22/27 -
3-37090075-T-C MLH1 c.1964T>C p.Ile655Thr Missense 17/19 -
3-37058999-C-T MLH1 c.793C>T p.Arg265Cys Missense 10/19 -
13-32914830-A-G BRCA2 c.6338A>G p.Asn2113Ser Missense 11/27 -
9-135786451-G-T TSC1 c.1079C>A p.Thr360Asn Missense 11/23 -
13-32913085-A-T BRCA2 c.4593A>T p.Lys1531Asn Missense 11/27 -
9-135779180-C-T TSC1 c.2066G>A p.Arg689His Missense 17/23 -
5-112164557-T-C APC c.1631T>C p.Ile544Thr Missense 14/16 -
9-135786868-G-A TSC1 c.1001C>T p.Ser334Leu Missense 10/23 -
4-55151547-T-C PDGFRA c.2333T>C p.Val778Ala Missense 17/23 -
1-45795027-C-T MUTYH c.1592G>A p.Arg531Gln Missense 16/16 -
1-45795027-C-G MUTYH c.1592G>C p.Arg531Pro Missense 16/16 -
10-43597961-C-T RET c.509C>T p.Thr170Ile Missense 3/20 -
10-43596033-G-A RET c.200G>A p.Arg67His Missense 2/20 -
17-41243509-T-C BRCA1 c.4039A>G p.Arg1347Gly Missense 10/23 -
7-116371900-G-A MET c.1379G>A p.Gly460Asp Missense 3/21 -
10-43620335-C-T RET c.2944C>T p.Arg982Cys Missense 18/20 -
13-32914236-C-T BRCA2 c.5744C>T p.Thr1915Met Missense 11/27 -
1-161326488-C-A SDHC c.263C>A p.Ser88* Nonsense 5/6 -
16-2134269-C-T TSC2 c.4046C>T p.Ala1349Val Missense 34/42 -
2-48027789-G-T MSH6 c.2667G>T p.Gln889His Missense 4/10 -
13-32972380-G-A BRCA2 c.9730G>A p.Val3244Ile Missense 27/27 -
17-41245471-C-T BRCA1 c.2077G>A p.Asp693Asn Missense 10/23 -
16-2110795-G-A TSC2 c.1100G>A p.Arg367Gln Missense 11/42 -
1-45800146-C-T MUTYH c.74G>A p.Gly25Asp Missense 2/16 -
9-98209511-C-T PTCH1 c.4027G>A p.Gly1343Arg Missense 23/24 -
7-6017373-C-T PMS2 c.2291G>A p.Arg764Lys Missense 14/15 -
1-241667542-A-G FH c.908T>C p.Leu303Ser Missense 7/10 -
18-48604751-A-G SMAD4 c.1573A>G p.Ile525Val Missense 12/12 -
13-32914817-G-A BRCA2 c.6325G>A p.Val2109Ile Missense 11/27 -
1-45796943-G-A MUTYH c.1378C>T p.Gln460* Nonsense 14/16 -
13-32950861-G-A BRCA2 c.8687G>A p.Arg2896His Missense 21/27 -
17-29686006-G-T NF1 c.8070G>T p.Leu2690Phe Missense 55/57 -
2-47630358-C-A MSH2 c.28C>A p.Gln10Lys Missense 1/16 -
17-41246315-A-C BRCA1 c.1233T>G p.Asp411Glu Missense 10/23 -
1-45800156-C-T MUTYH c.64G>A p.Val22Met Missense 2/16 -
7-6026685-G-T PMS2 c.1711C>A p.Leu571Ile Missense 11/15 -
4-55575669-G-A KIT c.1195G>A p.Val399Ile Missense 7/21 -
17-41246061-C-T BRCA1 c.1487G>A p.Arg496His Missense 10/23 -
2-48018236-G-T MSH6 c.431G>T p.Ser144Ile Missense 2/10 -
17-29653037-A-G NF1 c.4972A>G p.Ile1658Val Missense 36/57 -
9-98209648-C-T PTCH1 c.3890G>A p.Arg1297Gln Missense 23/24 -
5-112179153-C-G APC c.7862C>G p.Ser2621Cys Missense 16/16 -
16-2130198-G-A TSC2 c.3430G>A p.Val1144Met Missense 30/42 -
9-98218617-C-T PTCH1 c.3247G>A p.Val1083Met Missense 19/24 -
7-6026532-ATA-A PMS2 c.1864_1865delAT p.Met622Glufs*5 Frameshift 11/15 -
4-55133806-G-A PDGFRA c.1019G>A p.Arg340Gln Missense 7/23 -
17-17124763-C-T FLCN c.959G>A p.Arg320Lys Missense 8/8 -
13-32906766-C-T BRCA2 c.1151C>T p.Ser384Phe Missense 10/27 -
2-48026221-C-A MSH6 c.1099C>A p.His367Asn Missense 4/10 -
7-116411990-C-T MET c.2975C>T p.Thr992Ile Missense 14/21 -
3-37053550-G-A MLH1 c.637G>A p.Val213Met Missense 8/19 -
22-24143292-C-G SMARCB1 c.500+24C>G - IntronicSNV - 4/8
16-2133726-C-T TSC2 c.3914C>T p.Pro1305Leu Missense 33/42 -
5-112128224-G-T APC c.727G>T p.Glu243* Nonsense 7/16 -
2-48026740-C-A MSH6 c.1618C>A p.Leu540Ile Missense 4/10 -
3-37067240-T-A MLH1 c.1151T>A p.Val384Asp Missense 12/19 -
1-17355115-C-T SDHB c.403G>A p.Val135Met Missense 4/8 -
16-2138605-T-G TSC2 c.5418T>G p.Phe1806Leu Missense 42/42 -
5-112174770-C-A APC c.3479C>A p.Thr1160Lys Missense 16/16 -
17-41223028-C-T BRCA1 c.4903G>A p.Glu1635Lys Missense 15/23 -
13-32906480-A-C BRCA2 c.865A>C p.Asn289His Missense 10/27 -
7-6035210-G-T PMS2 c.858C>A p.Asp286Glu Missense 8/15 -
13-49033835-G-A RB1 c.1972G>A p.Ala658Thr Missense 20/27 -
5-112176461-C-G APC c.5170C>G p.Leu1724Val Missense 16/16 -
9-98209367-G-A PTCH1 c.4171C>T p.Arg1391Trp Missense 23/24 -
17-41243586-G-C BRCA1 c.3962C>G p.Ser1321Cys Missense 10/23 -
1-45797505-C-A MUTYH c.1005G>T p.Gln335His Missense 12/16 -
1-45797505-C-G MUTYH c.1005G>C p.Gln335His Missense 12/16 -
1-17350472-A-G SDHB c.638T>C p.Met213Thr Missense 6/8 -
7-116339642-G-T MET c.504G>T p.Glu168Asp Missense 2/21 -
4-55138608-G-A PDGFRA c.1285G>A p.Gly429Arg Missense 9/23 -
1-161326520-T-A SDHC c.295T>A p.Tyr99Asn Missense 5/6 -
17-41245759-C-T BRCA1 c.1789G>A p.Glu597Lys Missense 10/23 -
2-47643457-G-A MSH2 c.965G>A p.Gly322Asp Missense 6/16 -
9-98209693-G-A PTCH1 c.3845C>T p.Pro1282Leu Missense 23/24 -
7-116395517-C-G MET c.1810C>G p.Leu604Val Missense 6/21 -
17-29553484-C-T NF1 c.2033C>T p.Pro678Leu Missense 18/57 -
13-32910800-A-C BRCA2 c.2308A>C p.Ile770Leu Missense 11/27 -
5-112173495-C-T APC c.2204C>T p.Ala735Val Missense 16/16 -
13-32912750-G-T BRCA2 c.4258G>T p.Asp1420Tyr Missense 11/27 -
1-45797401-G-A MUTYH c.1109C>T p.Ala370Val Missense 12/16 -
4-55569954-C-T KIT c.821C>T p.Thr274Met Missense 5/21 -
7-116395419-A-C MET c.1712A>C p.Asn571Thr Missense 6/21 -
2-47705476-G-A MSH2 c.2276G>A p.Gly759Glu Missense 14/16 -
9-98224163-C-T PTCH1 c.2678G>A p.Arg893His Missense 16/24 -
5-112179179-G-A APC c.7888G>A p.Val2630Ile Missense 16/16 -
11-61205112-A-G SDHAF2 c.52A>G p.Arg18Gly Missense 2/4 -
5-112090640-T-A APC c.53T>A p.Met18Lys Missense 2/16 -
10-43613908-A-T RET c.2372A>T p.Tyr791Phe Missense 13/20 -
17-7579882-C-G TP53 c.31G>C p.Glu11Gln Missense 2/11 -
13-32914814-C-T BRCA2 c.6322C>T p.Arg2108Cys Missense 11/27 -
4-55141054-C-T PDGFRA c.1700C>T p.Pro567Leu Missense 12/23 -
17-41215930-G-C BRCA1 c.5113C>G p.Leu1705Val Missense 17/23 -
9-21970985-C-G CDKN2A c.373G>C p.Asp125His Missense 2/3 -
5-112178112-C-T APC c.6821C>T p.Ala2274Val Missense 16/16 -
9-135786904-A-G TSC1 c.965T>C p.Met322Thr Missense 10/23 -
3-37089130-AA-GC MLH1 c.1852_1853delAAinsGC p.Lys618Ala Missense 16/19 -
17-29677273-A-G NF1 c.7331A>G p.Asp2444Gly Missense 49/57 -
5-112178795-G-A APC c.7504G>A p.Gly2502Ser Missense 16/16 -
1-45795043-G-T MUTYH c.1576C>A p.Leu526Met Missense 16/16 -
13-32907129-T-C BRCA2 c.1514T>C p.Ile505Thr Missense 10/27 -
7-6026530-C-T PMS2 c.1866G>A p.Met622Ile Missense 11/15 -
2-48027547-G-A MSH6 c.2425G>A p.Val809Ile Missense 4/10 -
17-41245090-T-C BRCA1 c.2458A>G p.Lys820Glu Missense 10/23 -
13-32913271-A-C BRCA2 c.4779A>C p.Glu1593Asp Missense 11/27 -
17-17124804-C-T FLCN c.918G>A p.Trp306* Nonsense 8/8 -
1-45798591-T-C MUTYH c.494A>G p.Glu165Gly Missense 6/16 -
16-2138546-G-A TSC2 c.5359G>A p.Gly1787Ser Missense 42/42 -
7-6045633-A-G PMS2 c.53T>C p.Ile18Thr Missense 2/15 -
16-68847382-T-C CDH1 c.1304T>C p.Ile435Thr Missense 9/16 -
5-112154969-C-T APC c.1240C>T p.Arg414Cys Missense 10/16 -
4-55561707-G-C KIT c.97G>C p.Glu33Gln Missense 2/21 -
5-112090639-A-G APC c.52A>G p.Met18Val Missense 2/16 -
10-43601830-G-A RET c.874G>A p.Val292Met Missense 5/20 -
9-98231100-G-A PTCH1 c.2183C>T p.Thr728Met Missense 14/24 -
16-68855966-G-A CDH1 c.1774G>A p.Ala592Thr Missense 12/16 -
18-48575113-G-C SMAD4 c.307G>C p.Asp103His Missense 3/12 -
2-47690186-T-C MSH2 c.1403T>C p.Phe468Ser Missense 9/16 -
7-6026598-T-C PMS2 c.1798A>G p.Met600Val Missense 11/15 -
2-48010488-G-A MSH6 c.116G>A p.Gly39Glu Missense 1/10 -
16-2112591-A-G TSC2 c.1351A>G p.Arg451Gly Missense 13/42 -
13-32914592-C-T BRCA2 c.6100C>T p.Arg2034Cys Missense 11/27 -
9-135771689-G-A TSC1 c.3428C>T p.Pro1143Leu Missense 23/23 -
9-135802677-G-T TSC1 c.121C>A p.Leu41Ile Missense 4/23 -
5-112178706-C-T APC c.7415C>T p.Ala2472Val Missense 16/16 -
10-88683186-TCA-AAC BMPR1A c.1396_1398delTCAinsAAC p.Ser466Asn Missense 12/13 -
16-2132449-C-T TSC2 c.3827C>T p.Ser1276Phe Missense 32/42 -
16-68842735-G-A CDH1 c.671G>A p.Arg224His Missense 5/16 -
11-64577241-C-A MEN1 c.341G>T p.Ser114Ile Missense 2/10 -
5-112162891-C-G APC c.1495C>G p.Arg499Gly Missense 12/16 -
2-47698172-T-C MSH2 c.1730T>C p.Ile577Thr Missense 11/16 -
5-112103044-A-G APC c.379A>G p.Ser127Gly Missense 4/16 -
3-37090074-A-G MLH1 c.1963A>G p.Ile655Val Missense 17/19 -
5-112176683-A-G APC c.5392A>G p.Asn1798Asp Missense 16/16 -
9-135781317-G-C TSC1 c.1648C>G p.Gln550Glu Missense 15/23 -
1-45800167-G-A MUTYH c.53C>T p.Pro18Leu Missense 2/16 -
2-48026512-A-T MSH6 c.1390A>T p.Ile464Phe Missense 4/10 -
16-2137900-C-G TSC2 c.5026C>G p.Leu1676Val Missense 39/42 -
16-2124321-C-A TSC2 c.2476C>A p.Leu826Met Missense 22/42 -
13-32914839-A-G BRCA2 c.6347A>G p.His2116Arg Missense 11/27 -
5-112175666-TACT-T APC c.4375_4377delACT p.Thr1459delThr InFrameDeletion 16/16 -
9-98209594-G-A PTCH1 c.3944C>T p.Pro1315Leu Missense 23/24 -
1-161293426-C-T SDHC c.43C>T p.Arg15* Nonsense 2/6 -
9-21974601-GA-G CDKN2A c.150+76delT - IntronicDeletion - 1/2
17-41245027-G-A BRCA1 c.2521C>T p.Arg841Trp Missense 10/23 -
13-32913974-TAAATT-T BRCA2 c.5482_5486delAAATT p.Lys1828Valfs*4 Frameshift 11/27 -
5-112176756-T-A APC c.5465T>A p.Val1822Asp Missense 16/16 -
10-43595999-C-A RET c.166C>A p.Leu56Met Missense 2/20 -
5-112174540-T-G APC c.3249T>G p.Asp1083Glu Missense 16/16 -
2-47703652-C-T MSH2 c.2152C>T p.Gln718* Nonsense 13/16 -
9-98247979-T-C PTCH1 c.572A>G p.Tyr191Cys Missense 3/24 -
9-21970979-C-A CDKN2A c.379G>T p.Ala127Ser Missense 2/3 -
7-6018238-A-G PMS2 c.2264T>C p.Ile755Thr Missense 13/15 -
7-116395422-G-C MET c.1715G>C p.Ser572Thr Missense 6/21 -
4-55592079-C-T KIT c.1403C>T p.Pro468Leu Missense 9/21 -
5-112128192-G-A APC c.695G>A p.Arg232Gln Missense 7/16 -
17-29679412-C-T NF1 c.7532C>T p.Ala2511Val Missense 50/57 -
11-64571960-C-A MEN1 c.1694G>T p.Gly565Val Missense 10/10 -
18-48573565-A-G SMAD4 c.149A>G p.Lys50Arg Missense 2/12 -
17-29667530-C-T NF1 c.6866C>T p.Pro2289Leu Missense 46/57 -
17-41251790-A-T BRCA1 c.547+2T>A - IntronicSNV - 7/22
4-55598066-G-A KIT c.2263G>A p.Ala755Thr Missense 16/21 -
5-112178164-A-T APC c.6873A>T p.Gln2291His Missense 16/16 -
5-112173729-A-G APC c.2438A>G p.Asn813Ser Missense 16/16 -
3-10183800-A-G VHL c.269A>G p.Asn90Ser Missense 1/3 -
5-112174759-AAGA-A APC c.3468_3470delAGA p.Glu1157delGlu InFrameDeletion 16/16 -
17-29508805-T-G NF1 c.730+2T>G - IntronicSNV - 7/56
17-41244429-C-T BRCA1 c.3119G>A p.Ser1040Asn Missense 10/23 -
17-17124815-C-T FLCN c.907G>A p.Gly303Arg Missense 8/8 -
17-41226503-C-G BRCA1 c.4520G>C p.Arg1507Thr Missense 14/23 -
13-32953529-A-T BRCA2 c.8830A>T p.Ile2944Phe Missense 22/27 -
4-55570043-A-G KIT c.910A>G p.Thr304Ala Missense 5/21 -
16-2134985-TCTT-T TSC2 c.4527_4529delCTT p.Phe1510delPhe InFrameDeletion 35/42 -
17-41244252-G-A BRCA1 c.3296C>T p.Pro1099Leu Missense 10/23 -
2-47698190-A-G MSH2 c.1748A>G p.Asn583Ser Missense 11/16 -
17-17129431-A-G FLCN c.396+59T>C - IntronicSNV - 5/7
13-48919246-A-T RB1 c.411A>T p.Glu137Asp Missense 4/27 -
1-45795060-C-T MUTYH c.1559G>A p.Arg520His Missense 16/16 -
10-43609990-G-A RET c.1942G>A p.Val648Ile Missense 11/20 -
18-48575101-T-A SMAD4 c.295T>A p.Trp99Arg Missense 3/12 -
7-116417488-G-A MET c.3305G>A p.Gly1102Asp Missense 16/21 -
1-161284203-C-G SDHC c.8C>G p.Ala3Gly Missense 1/6 -
1-17380507-G-A SDHB c.8C>T p.Ala3Val Missense 1/8 -
1-17380507-G-C SDHB c.8C>G p.Ala3Gly Missense 1/8 -
1-45796195-G-A MUTYH c.1502C>T p.Thr501Ile Missense 15/16 -
10-88683223-G-A BMPR1A c.1433G>A p.Arg478His Missense 12/13 -
16-2131755-C-T TSC2 c.3770C>T p.Ala1257Val Missense 31/42 -
9-135785870-T-C TSC1 c.1263+88A>G - IntronicSNV - 12/22
1-45798063-C-T MUTYH c.779G>A p.Trp260* Nonsense 9/16 -
13-32912007-C-T BRCA2 c.3515C>T p.Ser1172Leu Missense 11/27 -
16-2138555-G-A TSC2 c.5368G>A p.Val1790Met Missense 42/42 -
16-2108843-C-T TSC2 c.944C>T p.Ser315Leu Missense 10/42 -
17-29665120-A-G NF1 c.6719A>G p.His2240Arg Missense 44/57 -
4-55133592-T-C PDGFRA c.896T>C p.Val299Ala Missense 6/23 -
17-41197708-T-G BRCA1 c.5579A>C p.His1860Pro Missense 23/23 -
2-47739551-A-G KCNK12 c.*8495T>C - IntergenicSNV 2/2 -
1-45797434-G-A MUTYH c.1076C>T p.Ala359Val Missense 12/16 -
18-48581261-C-T SMAD4 c.565C>T p.Arg189Cys Missense 5/12 -
4-55139771-T-C PDGFRA c.1432T>C p.Ser478Pro Missense 10/23 -
16-2138570-C-T TSC2 c.5383C>T p.Arg1795Cys Missense 42/42 -
7-116417485-A-G MET c.3302A>G p.Asp1101Gly Missense 16/21 -
17-41246812-A-C BRCA1 c.736T>G p.Leu246Val Missense 10/23 -
17-29496957-T-A NF1 c.528T>A p.Asp176Glu Missense 5/57 -
3-37067255-G-A MLH1 c.1166G>A p.Arg389Gln Missense 12/19 -
5-112173899-C-T APC c.2608C>T p.Pro870Ser Missense 16/16 -
17-41256155-G-T BRCA1 c.425C>A p.Pro142His Missense 6/23 -
4-55127448-G-A PDGFRA c.236G>A p.Gly79Asp Missense 3/23 -
5-112116562-C-G APC c.607C>G p.Gln203Glu Missense 6/16 -
17-41228575-G-A BRCA1 c.4414C>T p.Leu1472Phe Missense 13/23 -
13-32912054-A-G BRCA2 c.3562A>G p.Ile1188Val Missense 11/27 -
13-32906579-A-C BRCA2 c.964A>C p.Lys322Gln Missense 10/27 -
5-112178327-C-T APC c.7036C>T p.Pro2346Ser Missense 16/16 -
10-43620373-A-C RET c.2982A>C p.Lys994Asn Missense 18/20 -
9-98242365-T-C PTCH1 c.953A>G p.Asp318Gly Missense 7/24 -
17-29509642-G-T NF1 c.847G>T p.Asp283Tyr Missense 8/57 -
10-43623563-T-C RET c.3191T>C p.Met1064Thr Missense 20/20 -
1-45797228-C-T MUTYH c.1178G>A p.Gly393Asp Missense 13/16 -
9-98221935-C-T PTCH1 c.2834G>A p.Arg945Gln Missense 17/24 -
7-6038749-C-T PMS2 c.695G>A p.Gly232Glu Missense 6/15 -
7-116371758-C-A MET c.1237C>A p.Arg413Ser Missense 3/21 -
5-112163681-C-T APC c.1604C>T p.Ser535Phe Missense 13/16 -
13-32937521-G-A BRCA2 c.8182G>A p.Val2728Ile Missense 18/27 -
11-64572018-T-C MEN1 c.1636A>G p.Thr546Ala Missense 10/10 -
7-116339248-T-C MET c.110T>C p.Val37Ala Missense 2/21 -
22-30064419-A-T NF2 c.983A>T p.Glu328Val Missense 10/16 -
2-47641430-C-T MSH2 c.815C>T p.Ala272Val Missense 5/16 -
13-32910456-C-G BRCA2 c.1964C>G p.Pro655Arg Missense 11/27 -
16-68845646-G-A CDH1 c.892G>A p.Ala298Thr Missense 7/16 -
7-6026636-C-T PMS2 c.1760G>A p.Ser587Asn Missense 11/15 -
2-47657075-A-G MSH2 c.1271A>G p.His424Arg Missense 7/16 -
17-41226488-C-A BRCA1 c.4535G>T p.Ser1512Ile Missense 14/23 -
10-89692927-A-T PTEN c.411A>T p.Ala137Ala Synonymous 5/9 -
10-43600559-T-C RET c.785T>C p.Val262Ala Missense 4/20 -
9-98270558-C-G PTCH1 c.86G>C p.Gly29Ala Missense 1/24 -
4-55156603-G-T PDGFRA c.3004G>T p.Asp1002Tyr Missense 22/23 -
5-112179008-A-G APC c.7717A>G p.Ile2573Val Missense 16/16 -
17-41243835-G-A BRCA1 c.3713C>T p.Pro1238Leu Missense 10/23 -
17-41246860-C-A BRCA1 c.688G>T p.Glu230* Nonsense 10/23 -
13-32930633-C-T BRCA2 c.7504C>T p.Arg2502Cys Missense 15/27 -
16-2114289-C-G TSC2 c.1460C>G p.Ser487* Nonsense 15/42 -
2-47702241-A-C MSH2 c.1837A>C p.Asn613His Missense 12/16 -
17-41243765-T-A BRCA1 c.3783A>T p.Leu1261Phe Missense 10/23 -
13-32930673-C-T BRCA2 c.7544C>T p.Thr2515Ile Missense 15/27 -
5-112175663-C-T APC c.4372C>T p.Pro1458Ser Missense 16/16 -
16-2098675-G-A TSC2 c.59G>A p.Gly20Glu Missense 2/42 -
2-48026648-T-C MSH6 c.1526T>C p.Val509Ala Missense 4/10 -
13-32972884-A-G BRCA2 c.10234A>G p.Ile3412Val Missense 27/27 -
17-17129618-C-A FLCN c.268G>T p.Ala90Ser Missense 5/8 -
1-45798475-T-C MUTYH c.527A>G p.Tyr176Cys Missense 7/16 -
5-112174875-T-C APC c.3584T>C p.Phe1195Ser Missense 16/16 -
9-135772014-C-T TSC1 c.3103G>A p.Gly1035Ser Missense 23/23 -
16-2110765-C-T TSC2 c.1070C>T p.Ala357Val Missense 11/42 -
9-21970928-G-A CDKN2A c.430C>T p.Arg144Cys Missense 2/3 -
7-116371825-G-A MET c.1304G>A p.Ser435Asn Missense 3/21 -
17-41246814-T-A BRCA1 c.734A>T p.Asp245Val Missense 10/23 -
10-43613824-A-T RET c.2288A>T p.Asn763Ile Missense 13/20 -
7-116371866-G-A MET c.1345G>A p.Asp449Asn Missense 3/21 -
1-241661240-G-C FH c.1421C>G p.Thr474Arg Missense 10/10 -
7-6026708-C-A PMS2 c.1688G>T p.Arg563Leu Missense 11/15 -
1-161332200-T-C SDHC c.487T>C p.Ser163Pro Missense 6/6 -
17-29576025-A-G NF1 c.3998A>G p.Glu1333Gly Missense 30/57 -
1-45799215-T-C MUTYH c.209A>G p.Glu70Gly Missense 3/16 -
3-37089020-C-T MLH1 c.1742C>T p.Pro581Leu Missense 16/19 -
13-32953616-C-T BRCA2 c.8917C>T p.Arg2973Cys Missense 22/27 -
9-98220308-G-A PTCH1 c.3155C>T p.Thr1052Met Missense 18/24 -
7-116339337-A-G MET c.199A>G p.Thr67Ala Missense 2/21 -
5-112103085-G-C APC c.420G>C p.Glu140Asp Missense 4/16 -
5-112179750-C-T APC c.8459C>T p.Thr2820Ile Missense 16/16 -
10-88635779-C-A BMPR1A c.4C>A p.Pro2Thr Missense 3/13 -
13-32914044-T-G BRCA2 c.5552T>G p.Ile1851Ser Missense 11/27 -
13-32893214-GAT-G BRCA2 c.68_69delAT - SpliceAcceptorDeletion 3/27 -
9-98209213-C-T PTCH1 c.4325G>A p.Arg1442Gln Missense 23/24 -
7-6043626-TTCT-T PMS2 c.232_234delGAA p.Glu78delGlu InFrameDeletion 3/15 -
2-47705625-G-A MSH2 c.2425G>A p.Glu809Lys Missense 14/16 -
2-48027755-T-C MSH6 c.2633T>C p.Val878Ala Missense 4/10 -
7-6026942-G-T PMS2 c.1454C>A p.Thr485Lys Missense 11/15 -
7-116340086-A-G MET c.948A>G p.Ile316Met Missense 2/21 -
13-32890647-C-T BRCA2 c.50C>T p.Thr17Ile Missense 2/27 -
2-48026486-A-C MSH6 c.1364A>C p.Asn455Thr Missense 4/10 -
17-41245699-T-C BRCA1 c.1849A>G p.Thr617Ala Missense 10/23 -
9-98229473-C-T PTCH1 c.2485G>A p.Val829Met Missense 15/24 -
17-41244765-C-T BRCA1 c.2783G>A p.Gly928Asp Missense 10/23 -
16-2121610-G-A TSC2 c.1939G>A p.Asp647Asn Missense 18/42 -
17-17127268-T-C FLCN c.586A>G p.Ile196Val Missense 6/8 -
1-45797172-G-A MUTYH c.1234C>T p.Leu412Phe Missense 13/16 -
4-55564596-T-G KIT c.484T>G p.Phe162Val Missense 3/21 -
5-112179048-G-T APC c.7757G>T p.Ser2586Ile Missense 16/16 -
2-47703646-G-A MSH2 c.2146G>A p.Asp716Asn Missense 13/16 -
16-68856041-G-A CDH1 c.1849G>A p.Ala617Thr Missense 12/16 -
11-64575505-C-T MEN1 c.527G>A p.Arg176Gln Missense 3/10 -
2-47656972-C-T MSH2 c.1168C>T p.Leu390Phe Missense 7/16 -
7-116340105-A-G MET c.967A>G p.Ser323Gly Missense 2/21 -
9-98231110-G-A PTCH1 c.2173C>T p.Pro725Ser Missense 14/24 -
13-32929309-A-G BRCA2 c.7319A>G p.His2440Arg Missense 14/27 -
17-41246305-C-T BRCA1 c.1243G>A p.Val415Ile Missense 10/23 -
13-32914666-TT-T BRCA2 c.6174delT p.Phe2058Leufs*12 Frameshift 11/27 -
17-29685632-A-T NF1 c.8042A>T p.Tyr2681Phe Missense 54/57 -
7-116411923-C-T MET c.2908C>T p.Arg970Cys Missense 14/21 -
10-43615532-G-A RET c.2611G>A p.Val871Ile Missense 15/20 -
4-55131118-C-T PDGFRA c.661C>T p.Leu221Phe Missense 5/23 -
4-55575673-A-G KIT c.1199A>G p.Asn400Ser Missense 7/21 -
4-55133886-G-A PDGFRA c.1099G>A p.Val367Met Missense 7/23 -
13-32937488-G-T BRCA2 c.8149G>T p.Ala2717Ser Missense 18/27 -