Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50185650_50185778delCA2809756914COL1A1c.4248+1_4249-1del
c.3978+1_3979-1del
c.3330+1_3331-1del
c.4050+1_4051-1del
17g.50185719_50185723delCA2263913813COL1A1c.4248+60_4248+64del (n.4248+60_4248+64del)
c.3978+60_3978+64del (n.3978+60_3978+64del)
c.3330+60_3330+64del (n.3330+60_3330+64del)
c.4050+60_4050+64del (n.4050+60_4050+64del)
 dbSNP
17g.50185720G>ACA2638704592COL1A1c.4248+58C>T (n.4248+58C>T)
c.3978+58C>T (n.3978+58C>T)
c.3330+58C>T (n.3330+58C>T)
c.4050+58C>T (n.4050+58C>T)
 gnomAD v4
17g.50185722C>TCA2638704593COL1A1c.4248+56G>A (n.4248+56G>A)
c.3978+56G>A (n.3978+56G>A)
c.3330+56G>A (n.3330+56G>A)
c.4050+56G>A (n.4050+56G>A)
 gnomAD v4
17g.50185723C>TCA2638704594COL1A1c.4248+55G>A (n.4248+55G>A)
c.3978+55G>A (n.3978+55G>A)
c.3330+55G>A (n.3330+55G>A)
c.4050+55G>A (n.4050+55G>A)
 gnomAD v4
17g.50185728delCA2638704595COL1A1c.4248+54del (n.4248+54del)
c.3978+54del (n.3978+54del)
c.3330+54del (n.3330+54del)
c.4050+54del (n.4050+54del)
 gnomAD v4
17g.50185726A>GCA2638704596COL1A1c.4248+52T>C (n.4248+52T>C)
c.3978+52T>C (n.3978+52T>C)
c.3330+52T>C (n.3330+52T>C)
c.4050+52T>C (n.4050+52T>C)
 gnomAD v4
17g.50185726_50185727insCACACCCAACACCA2809756932COL1A1c.4248+51_4248+52insGTGTTGGGTGTG (n.4248+51_4248+52insGTGTTGGGTGTG)
c.3978+51_3978+52insGTGTTGGGTGTG (n.3978+51_3978+52insGTGTTGGGTGTG)
c.3330+51_3330+52insGTGTTGGGTGTG (n.3330+51_3330+52insGTGTTGGGTGTG)
c.4050+51_4050+52insGTGTTGGGTGTG (n.4050+51_4050+52insGTGTTGGGTGTG)
17g.50185728A=CA2263913815COL1A1c.4248+50T= (n.4248+50T=)
c.3978+50T= (n.3978+50T=)
c.3330+50T= (n.3330+50T=)
c.4050+50T= (n.4050+50T=)
17g.50185728A>GCA2576316979COL1A1c.4248+50T>C (n.4248+50T>C)
c.3978+50T>C (n.3978+50T>C)
c.3330+50T>C (n.3330+50T>C)
c.4050+50T>C (n.4050+50T>C)
 gnomAD v4
17g.50185728A>TCA291542777COL1A1c.4248+50T>A (n.4248+50T>A)
c.3978+50T>A (n.3978+50T>A)
c.3330+50T>A (n.3330+50T>A)
c.4050+50T>A (n.4050+50T>A)
 dbSNP
17g.50185730C>TCA2638704597COL1A1c.4248+48G>A (n.4248+48G>A)
c.3978+48G>A (n.3978+48G>A)
c.3330+48G>A (n.3330+48G>A)
c.4050+48G>A (n.4050+48G>A)
 gnomAD v4
17g.50185733A>TCA2638704598COL1A1c.4248+45T>A (n.4248+45T>A)
c.3978+45T>A (n.3978+45T>A)
c.3330+45T>A (n.3330+45T>A)
c.4050+45T>A (n.4050+45T>A)
 gnomAD v4
17g.50185734A=CA2263913816COL1A1c.4248+44T= (n.4248+44T=)
c.3978+44T= (n.3978+44T=)
c.3330+44T= (n.3330+44T=)
c.4050+44T= (n.4050+44T=)
17g.50185734A>CCA291542778COL1A1c.4248+44T>G (n.4248+44T>G)
c.3978+44T>G (n.3978+44T>G)
c.3330+44T>G (n.3330+44T>G)
c.4050+44T>G (n.4050+44T>G)
 dbSNP
17g.50185734A>GCA2576316980COL1A1c.4248+44T>C (n.4248+44T>C)
c.3978+44T>C (n.3978+44T>C)
c.3330+44T>C (n.3330+44T>C)
c.4050+44T>C (n.4050+44T>C)
17g.50185735G>CCA8644209COL1A1c.4248+43C>G (n.4248+43C>G)
c.3978+43C>G (n.3978+43C>G)
c.3330+43C>G (n.3330+43C>G)
c.4050+43C>G (n.4050+43C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185735G=CA2263913817COL1A1c.4248+43C= (n.4248+43C=)
c.3978+43C= (n.3978+43C=)
c.3330+43C= (n.3330+43C=)
c.4050+43C= (n.4050+43C=)
17g.50185736delCA2638704599COL1A1c.4248+43del (n.4248+43del)
c.3978+43del (n.3978+43del)
c.3330+43del (n.3330+43del)
c.4050+43del (n.4050+43del)
 gnomAD v4
17g.50185736G>ACA8644210COL1A1c.4248+42C>T (n.4248+42C>T)
c.3978+42C>T (n.3978+42C>T)
c.3330+42C>T (n.3330+42C>T)
c.4050+42C>T (n.4050+42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185736G=CA2263913818COL1A1c.4248+42C= (n.4248+42C=)
c.3978+42C= (n.3978+42C=)
c.3330+42C= (n.3330+42C=)
c.4050+42C= (n.4050+42C=)
17g.50185737C=CA2263913819COL1A1c.4248+41G= (n.4248+41G=)
c.3978+41G= (n.3978+41G=)
c.3330+41G= (n.3330+41G=)
c.4050+41G= (n.4050+41G=)
17g.50185737C>TCA8644211COL1A1c.4248+41G>A (n.4248+41G>A)
c.3978+41G>A (n.3978+41G>A)
c.3330+41G>A (n.3330+41G>A)
c.4050+41G>A (n.4050+41G>A)
 dbSNP ExAC gnomAD v4
17g.50185738C=CA2263913820COL1A1c.4248+40G= (n.4248+40G=)
c.3978+40G= (n.3978+40G=)
c.3330+40G= (n.3330+40G=)
c.4050+40G= (n.4050+40G=)
17g.50185738C>TCA8644212COL1A1c.4248+40G>A (n.4248+40G>A)
c.3978+40G>A (n.3978+40G>A)
c.3330+40G>A (n.3330+40G>A)
c.4050+40G>A (n.4050+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185739G>ACA8644213COL1A1c.4248+39C>T (n.4248+39C>T)
c.3978+39C>T (n.3978+39C>T)
c.3330+39C>T (n.3330+39C>T)
c.4050+39C>T (n.4050+39C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185739G=CA2263913821COL1A1c.4248+39C= (n.4248+39C=)
c.3978+39C= (n.3978+39C=)
c.3330+39C= (n.3330+39C=)
c.4050+39C= (n.4050+39C=)
17g.50185740G>ACA2733839128COL1A1c.4248+38C>T (n.4248+38C>T)
c.3978+38C>T (n.3978+38C>T)
c.3330+38C>T (n.3330+38C>T)
c.4050+38C>T (n.4050+38C>T)
 dbSNP
17g.50185740G>TCA2638704600COL1A1c.4248+38C>A (n.4248+38C>A)
c.3978+38C>A (n.3978+38C>A)
c.3330+38C>A (n.3330+38C>A)
c.4050+38C>A (n.4050+38C>A)
 gnomAD v4
17g.50185744G>ACA772780289COL1A1c.4248+34C>T (n.4248+34C>T)
c.3978+34C>T (n.3978+34C>T)
c.3330+34C>T (n.3330+34C>T)
c.4050+34C>T (n.4050+34C>T)
 dbSNP gnomAD v4
17g.50185744G=CA2263913822COL1A1c.4248+34C= (n.4248+34C=)
c.3978+34C= (n.3978+34C=)
c.3330+34C= (n.3330+34C=)
c.4050+34C= (n.4050+34C=)
17g.50185745G>ACA2263913824COL1A1c.4248+33C>T (n.4248+33C>T)
c.3978+33C>T (n.3978+33C>T)
c.3330+33C>T (n.3330+33C>T)
c.4050+33C>T (n.4050+33C>T)
 dbSNP gnomAD v4
17g.50185745G=CA2263913823COL1A1c.4248+33C= (n.4248+33C=)
c.3978+33C= (n.3978+33C=)
c.3330+33C= (n.3330+33C=)
c.4050+33C= (n.4050+33C=)
17g.50185746T>GCA2263913826COL1A1c.4248+32A>C (n.4248+32A>C)
c.3978+32A>C (n.3978+32A>C)
c.3330+32A>C (n.3330+32A>C)
c.4050+32A>C (n.4050+32A>C)
 dbSNP
17g.50185746T=CA2263913825COL1A1c.4248+32A= (n.4248+32A=)
c.3978+32A= (n.3978+32A=)
c.3330+32A= (n.3330+32A=)
c.4050+32A= (n.4050+32A=)
17g.50185747G>CCA291542779COL1A1c.4248+31C>G (n.4248+31C>G)
c.3978+31C>G (n.3978+31C>G)
c.3330+31C>G (n.3330+31C>G)
c.4050+31C>G (n.4050+31C>G)
 dbSNP gnomAD v4
17g.50185747G=CA2263913827COL1A1c.4248+31C= (n.4248+31C=)
c.3978+31C= (n.3978+31C=)
c.3330+31C= (n.3330+31C=)
c.4050+31C= (n.4050+31C=)
17g.50185748G>ACA8644214COL1A1c.4248+30C>T (n.4248+30C>T)
c.3978+30C>T (n.3978+30C>T)
c.3330+30C>T (n.3330+30C>T)
c.4050+30C>T (n.4050+30C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185748G=CA2263913828COL1A1c.4248+30C= (n.4248+30C=)
c.3978+30C= (n.3978+30C=)
c.3330+30C= (n.3330+30C=)
c.4050+30C= (n.4050+30C=)
17g.50185749G>ACA2638704601COL1A1c.4248+29C>T (n.4248+29C>T)
c.3978+29C>T (n.3978+29C>T)
c.3330+29C>T (n.3330+29C>T)
c.4050+29C>T (n.4050+29C>T)
 gnomAD v4
17g.50185750G=CA2263913829COL1A1c.4248+28C= (n.4248+28C=)
c.3978+28C= (n.3978+28C=)
c.3330+28C= (n.3330+28C=)
c.4050+28C= (n.4050+28C=)
17g.50185750G>TCA291542780COL1A1c.4248+28C>A (n.4248+28C>A)
c.3978+28C>A (n.3978+28C>A)
c.3330+28C>A (n.3330+28C>A)
c.4050+28C>A (n.4050+28C>A)
 dbSNP gnomAD v4
17g.50185751C>ACA8644215COL1A1c.4248+27G>T (n.4248+27G>T)
c.3978+27G>T (n.3978+27G>T)
c.3330+27G>T (n.3330+27G>T)
c.4050+27G>T (n.4050+27G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185751C=CA2263913830COL1A1c.4248+27G= (n.4248+27G=)
c.3978+27G= (n.3978+27G=)
c.3330+27G= (n.3330+27G=)
c.4050+27G= (n.4050+27G=)
17g.50185751C>TCA291542781COL1A1c.4248+27G>A (n.4248+27G>A)
c.3978+27G>A (n.3978+27G>A)
c.3330+27G>A (n.3330+27G>A)
c.4050+27G>A (n.4050+27G>A)
 dbSNP gnomAD v2 gnomAD v4
17g.50185752C=CA2263913831COL1A1c.4248+26G= (n.4248+26G=)
c.3978+26G= (n.3978+26G=)
c.3330+26G= (n.3330+26G=)
c.4050+26G= (n.4050+26G=)
17g.50185752C>TCA772780295COL1A1c.4248+26G>A (n.4248+26G>A)
c.3978+26G>A (n.3978+26G>A)
c.3330+26G>A (n.3330+26G>A)
c.4050+26G>A (n.4050+26G>A)
 dbSNP
17g.50185753C>TCA2638704602COL1A1c.4248+25G>A (n.4248+25G>A)
c.3978+25G>A (n.3978+25G>A)
c.3330+25G>A (n.3330+25G>A)
c.4050+25G>A (n.4050+25G>A)
 gnomAD v4
17g.50185754T>GCA291542782COL1A1c.4248+24A>C (n.4248+24A>C)
c.3978+24A>C (n.3978+24A>C)
c.3330+24A>C (n.3330+24A>C)
c.4050+24A>C (n.4050+24A>C)
 dbSNP gnomAD v4
17g.50185754T=CA2263913832COL1A1c.4248+24A= (n.4248+24A=)
c.3978+24A= (n.3978+24A=)
c.3330+24A= (n.3330+24A=)
c.4050+24A= (n.4050+24A=)
17g.50185755G>ACA8644216COL1A1c.4248+23C>T (n.4248+23C>T)
c.3978+23C>T (n.3978+23C>T)
c.3330+23C>T (n.3330+23C>T)
c.4050+23C>T (n.4050+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185755G=CA2263913833COL1A1c.4248+23C= (n.4248+23C=)
c.3978+23C= (n.3978+23C=)
c.3330+23C= (n.3330+23C=)
c.4050+23C= (n.4050+23C=)
17g.50185756C>TCA2809756935COL1A1c.4248+22G>A (n.4248+22G>A)
c.3978+22G>A (n.3978+22G>A)
c.3330+22G>A (n.3330+22G>A)
c.4050+22G>A (n.4050+22G>A)
17g.50185758T>CCA8644217COL1A1c.4248+20A>G (n.4248+20A>G)
c.3978+20A>G (n.3978+20A>G)
c.3330+20A>G (n.3330+20A>G)
c.4050+20A>G (n.4050+20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185758T=CA2263913834COL1A1c.4248+20A= (n.4248+20A=)
c.3978+20A= (n.3978+20A=)
c.3330+20A= (n.3330+20A=)
c.4050+20A= (n.4050+20A=)
17g.50185760G>TCA2638704605COL1A1c.4248+18C>A (n.4248+18C>A)
c.3978+18C>A (n.3978+18C>A)
c.3330+18C>A (n.3330+18C>A)
c.4050+18C>A (n.4050+18C>A)
 gnomAD v4
17g.50185761G>ACA2556591589COL1A1c.4248+17C>T (n.4248+17C>T)
c.3978+17C>T (n.3978+17C>T)
c.3330+17C>T (n.3330+17C>T)
c.4050+17C>T (n.4050+17C>T)
 ClinVar gnomAD v4
17g.50185762G>ACA772780298COL1A1c.4248+16C>T (n.4248+16C>T)
c.3978+16C>T (n.3978+16C>T)
c.3330+16C>T (n.3330+16C>T)
c.4050+16C>T (n.4050+16C>T)
 dbSNP
17g.50185762G=CA2263913835COL1A1c.4248+16C= (n.4248+16C=)
c.3978+16C= (n.3978+16C=)
c.3330+16C= (n.3330+16C=)
c.4050+16C= (n.4050+16C=)
17g.50185762G>TCA291542783COL1A1c.4248+16C>A (n.4248+16C>A)
c.3978+16C>A (n.3978+16C>A)
c.3330+16C>A (n.3330+16C>A)
c.4050+16C>A (n.4050+16C>A)
 dbSNP gnomAD v4
17g.50185764T>CCA2638704609COL1A1c.4248+14A>G (n.4248+14A>G)
c.3978+14A>G (n.3978+14A>G)
c.3330+14A>G (n.3330+14A>G)
c.4050+14A>G (n.4050+14A>G)
 gnomAD v4
17g.50185765T>ACA2263913837COL1A1c.4248+13A>T (n.4248+13A>T)
c.3978+13A>T (n.3978+13A>T)
c.3330+13A>T (n.3330+13A>T)
c.4050+13A>T (n.4050+13A>T)
 dbSNP
17g.50185765T=CA2263913836COL1A1c.4248+13A= (n.4248+13A=)
c.3978+13A= (n.3978+13A=)
c.3330+13A= (n.3330+13A=)
c.4050+13A= (n.4050+13A=)
17g.50185766C>TCA2576316981COL1A1c.4248+12G>A (n.4248+12G>A)
c.3978+12G>A (n.3978+12G>A)
c.3330+12G>A (n.3330+12G>A)
c.4050+12G>A (n.4050+12G>A)
17g.50185767T>CCA2809756938COL1A1c.4248+11A>G (n.4248+11A>G)
c.3978+11A>G (n.3978+11A>G)
c.3330+11A>G (n.3330+11A>G)
c.4050+11A>G (n.4050+11A>G)
17g.50185770delCA2638704611COL1A1c.4248+10del (n.4248+10del)
c.3978+10del (n.3978+10del)
c.3330+10del (n.3330+10del)
c.4050+10del (n.4050+10del)
 gnomAD v4
17g.50185769G>CCA2638704613COL1A1c.4248+9C>G (n.4248+9C>G)
c.3978+9C>G (n.3978+9C>G)
c.3330+9C>G (n.3330+9C>G)
c.4050+9C>G (n.4050+9C>G)
 gnomAD v4
17g.50185774_50185777dupCA2638704616COL1A1c.4248+4_4248+7dup (n.4248+4_4248+7dup)
c.3978+4_3978+7dup (n.3978+4_3978+7dup)
c.3330+4_3330+7dup (n.3330+4_3330+7dup)
c.4050+4_4050+7dup (n.4050+4_4050+7dup)
 gnomAD v4
17g.50185772A=CA2263913838COL1A1c.4248+6T= (n.4248+6T=)
c.3978+6T= (n.3978+6T=)
c.3330+6T= (n.3330+6T=)
c.4050+6T= (n.4050+6T=)
17g.50185772A>GCA291542784COL1A1c.4248+6T>C (n.4248+6T>C)
c.3978+6T>C (n.3978+6T>C)
c.3330+6T>C (n.3330+6T>C)
c.4050+6T>C (n.4050+6T>C)
 ClinVar dbSNP gnomAD v4
17g.50185773C>GCA2580094164COL1A1c.4248+5G>C (n.4248+5G>C)
c.3978+5G>C (n.3978+5G>C)
c.3330+5G>C (n.3330+5G>C)
c.4050+5G>C (n.4050+5G>C)
 ClinVar gnomAD v4
17g.50185773C>TCA2638704623COL1A1c.4248+5G>A (n.4248+5G>A)
c.3978+5G>A (n.3978+5G>A)
c.3330+5G>A (n.3330+5G>A)
c.4050+5G>A (n.4050+5G>A)
 gnomAD v4
17g.50185774T>CCA8644218COL1A1c.4248+4A>G (n.4248+4A>G)
c.3978+4A>G (n.3978+4A>G)
c.3330+4A>G (n.3330+4A>G)
c.4050+4A>G (n.4050+4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185774T>GCA2576316982COL1A1c.4248+4A>C (n.4248+4A>C)
c.3978+4A>C (n.3978+4A>C)
c.3330+4A>C (n.3330+4A>C)
c.4050+4A>C (n.4050+4A>C)
 gnomAD v4
17g.50185774T=CA2263913839COL1A1c.4248+4A= (n.4248+4A=)
c.3978+4A= (n.3978+4A=)
c.3330+4A= (n.3330+4A=)
c.4050+4A= (n.4050+4A=)
17g.50185775C>TCA2739268222COL1A1c.4248+3G>A (n.4248+3G>A)
c.3978+3G>A (n.3978+3G>A)
c.3330+3G>A (n.3330+3G>A)
c.4050+3G>A (n.4050+3G>A)
 ClinVar
17g.50185776A=CA2263913840COL1A1c.4248+2T= (n.4248+2T=)
c.3978+2T= (n.3978+2T=)
c.3330+2T= (n.3330+2T=)
c.4050+2T= (n.4050+2T=)
17g.50185776A>CCA291542785COL1A1c.4248+2T>G (n.4248+2T>G)
c.3978+2T>G (n.3978+2T>G)
c.3330+2T>G (n.3330+2T>G)
c.4050+2T>G (n.4050+2T>G)
 dbSNP
17g.50185776A>GCA400191113COL1A1c.4248+2T>C (n.4248+2T>C)
c.3978+2T>C (n.3978+2T>C)
c.3330+2T>C (n.3330+2T>C)
c.4050+2T>C (n.4050+2T>C)
 ClinVar dbSNP
17g.50185776A>TCA291542786COL1A1c.4248+2T>A (n.4248+2T>A)
c.3978+2T>A (n.3978+2T>A)
c.3330+2T>A (n.3330+2T>A)
c.4050+2T>A (n.4050+2T>A)
 dbSNP
17g.50185776_50185783delinsTGCA2695226431COL1A1c.4243_4248+2delinsCA
c.3973_3978+2delinsCA
c.3325_3330+2delinsCA
c.4045_4050+2delinsCA
17g.50185777C>ACA400191129COL1A1c.4248+1G>T (n.4248+1G>T)
c.3978+1G>T (n.3978+1G>T)
c.3330+1G>T (n.3330+1G>T)
c.4050+1G>T (n.4050+1G>T)
17g.50185777C=CA2263913841COL1A1c.4248+1G= (n.4248+1G=)
c.3978+1G= (n.3978+1G=)
c.3330+1G= (n.3330+1G=)
c.4050+1G= (n.4050+1G=)
17g.50185777C>GCA291542787COL1A1c.4248+1G>C (n.4248+1G>C)
c.3978+1G>C (n.3978+1G>C)
c.3330+1G>C (n.3330+1G>C)
c.4050+1G>C (n.4050+1G>C)
 dbSNP
17g.50185777C>TCA291542788COL1A1c.4248+1G>A (n.4248+1G>A)
c.3978+1G>A (n.3978+1G>A)
c.3330+1G>A (n.3330+1G>A)
c.4050+1G>A (n.4050+1G>A)
 ClinVar dbSNP
17g.50185778C>ACA500991506COL1A1c.4248G>T (p.Thr1416=)
c.3978G>T (p.Thr1326=)
c.3330G>T (p.Thr1110=)
c.4050G>T (p.Thr1350=)
17g.50185778C=CA2263913843COL1A1c.4248G= (p.Thr1416=)
c.3978G= (p.Thr1326=)
c.3330G= (p.Thr1110=)
c.4050G= (p.Thr1350=)
17g.50185778C>GCA500991507COL1A1c.4248G>C (p.Thr1416=)
c.3978G>C (p.Thr1326=)
c.3330G>C (p.Thr1110=)
c.4050G>C (p.Thr1350=)
 dbSNP gnomAD v2 gnomAD v4
17g.50185778C>TCA8644219COL1A1c.4248G>A (p.Thr1416=)
c.3978G>A (p.Thr1326=)
c.3330G>A (p.Thr1110=)
c.4050G>A (p.Thr1350=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50185778_50185779delinsCGCA2263913842COL1A1c.4247_4248delinsCG (p.Thr1416=)
c.3977_3978delinsCG (p.Thr1326=)
c.3329_3330delinsCG (p.Thr1110=)
c.4049_4050delinsCG (p.Thr1350=)
17g.50185780_50185790dupCA2695226432COL1A1c.4238_4248dup (p.Ser1417MetfsTer14)
c.3968_3978dup (p.Ser1327MetfsTer14)
c.3320_3330dup (p.Ser1111MetfsTer14)
c.4040_4050dup (p.Ser1351MetfsTer14)
17g.50185779delCA261265COL1A1c.4247del (p.Thr1416ArgfsTer11)
c.3977del (p.Thr1326ArgfsTer11)
c.3329del (p.Thr1110ArgfsTer11)
c.4049del (p.Thr1350ArgfsTer11)
 ClinVar dbSNP
17g.50185779G>ACA400191138COL1A1c.4247C>T (p.Thr1416Met)
c.3977C>T (p.Thr1326Met)
c.3329C>T (p.Thr1110Met)
c.4049C>T (p.Thr1350Met)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.50185779G>CCA400191143COL1A1c.4247C>G (p.Thr1416Arg)
c.3977C>G (p.Thr1326Arg)
c.3329C>G (p.Thr1110Arg)
c.4049C>G (p.Thr1350Arg)
17g.50185779G=CA2263913844COL1A1c.4247C= (p.Thr1416=)
c.3977C= (p.Thr1326=)
c.3329C= (p.Thr1110=)
c.4049C= (p.Thr1350=)
17g.50185779G>TCA400191146COL1A1c.4247C>A (p.Thr1416Lys)
c.3977C>A (p.Thr1326Lys)
c.3329C>A (p.Thr1110Lys)
c.4049C>A (p.Thr1350Lys)
17g.50185780T>ACA400191153COL1A1c.4246A>T (p.Thr1416Ser)
c.3976A>T (p.Thr1326Ser)
c.3328A>T (p.Thr1110Ser)
c.4048A>T (p.Thr1350Ser)
17g.50185780T>CCA400191157COL1A1c.4246A>G (p.Thr1416Ala)
c.3976A>G (p.Thr1326Ala)
c.3328A>G (p.Thr1110Ala)
c.4048A>G (p.Thr1350Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.50185780T>GCA400191162COL1A1c.4246A>C (p.Thr1416Pro)
c.3976A>C (p.Thr1326Pro)
c.3328A>C (p.Thr1110Pro)
c.4048A>C (p.Thr1350Pro)
17g.50185780T=CA2263913845COL1A1c.4246A= (p.Thr1416=)
c.3976A= (p.Thr1326=)
c.3328A= (p.Thr1110=)
c.4048A= (p.Thr1350=)
17g.50185781G>ACA500991509COL1A1c.4245C>T (p.Cys1415=)
c.3975C>T (p.Cys1325=)
c.3327C>T (p.Cys1109=)
c.4047C>T (p.Cys1349=)
 dbSNP
17g.50185781G>CCA400191167COL1A1c.4245C>G (p.Cys1415Trp)
c.3975C>G (p.Cys1325Trp)
c.3327C>G (p.Cys1109Trp)
c.4047C>G (p.Cys1349Trp)
17g.50185781G=CA2263913846COL1A1c.4245C= (p.Cys1415=)
c.3975C= (p.Cys1325=)
c.3327C= (p.Cys1109=)
c.4047C= (p.Cys1349=)
17g.50185781G>TCA400191169COL1A1c.4245C>A (p.Cys1415Ter)
c.3975C>A (p.Cys1325Ter)
c.3327C>A (p.Cys1109Ter)
c.4047C>A (p.Cys1349Ter)
 ClinVar dbSNP
17g.50185782C>ACA400191176COL1A1c.4244G>T (p.Cys1415Phe)
c.3974G>T (p.Cys1325Phe)
c.3326G>T (p.Cys1109Phe)
c.4046G>T (p.Cys1349Phe)
 COSMIC
17g.50185782C>GCA400191179COL1A1c.4244G>C (p.Cys1415Ser)
c.3974G>C (p.Cys1325Ser)
c.3326G>C (p.Cys1109Ser)
c.4046G>C (p.Cys1349Ser)
17g.50185782C>TCA400191184COL1A1c.4244G>A (p.Cys1415Tyr)
c.3974G>A (p.Cys1325Tyr)
c.3326G>A (p.Cys1109Tyr)
c.4046G>A (p.Cys1349Tyr)
17g.50185783A>CCA400191189COL1A1c.4243T>G (p.Cys1415Gly)
c.3973T>G (p.Cys1325Gly)
c.3325T>G (p.Cys1109Gly)
c.4045T>G (p.Cys1349Gly)
17g.50185783A>GCA400191192COL1A1c.4243T>C (p.Cys1415Arg)
c.3973T>C (p.Cys1325Arg)
c.3325T>C (p.Cys1109Arg)
c.4045T>C (p.Cys1349Arg)
17g.50185783A>TCA400191191COL1A1c.4243T>A (p.Cys1415Ser)
c.3973T>A (p.Cys1325Ser)
c.3325T>A (p.Cys1109Ser)
c.4045T>A (p.Cys1349Ser)
17g.50185784G>ACA500991513COL1A1c.4242C>T (p.Gly1414=)
c.3972C>T (p.Gly1324=)
c.3324C>T (p.Gly1108=)
c.4044C>T (p.Gly1348=)
 ClinVar
17g.50185784G>CCA500991514COL1A1c.4242C>G (p.Gly1414=)
c.3972C>G (p.Gly1324=)
c.3324C>G (p.Gly1108=)
c.4044C>G (p.Gly1348=)
17g.50185784G>TCA500991515COL1A1c.4242C>A (p.Gly1414=)
c.3972C>A (p.Gly1324=)
c.3324C>A (p.Gly1108=)
c.4044C>A (p.Gly1348=)
17g.50185785C>ACA400191199COL1A1c.4241G>T (p.Gly1414Val)
c.3971G>T (p.Gly1324Val)
c.3323G>T (p.Gly1108Val)
c.4043G>T (p.Gly1348Val)
 ClinVar
17g.50185785C=CA2263913847COL1A1c.4241G= (p.Gly1414=)
c.3971G= (p.Gly1324=)
c.3323G= (p.Gly1108=)
c.4043G= (p.Gly1348=)
17g.50185785C>GCA400191208COL1A1c.4241G>C (p.Gly1414Ala)
c.3971G>C (p.Gly1324Ala)
c.3323G>C (p.Gly1108Ala)
c.4043G>C (p.Gly1348Ala)
17g.50185785C>TCA400191211COL1A1c.4241G>A (p.Gly1414Asp)
c.3971G>A (p.Gly1324Asp)
c.3323G>A (p.Gly1108Asp)
c.4043G>A (p.Gly1348Asp)
 dbSNP gnomAD v2 gnomAD v4
17g.50185786C>ACA400191215COL1A1c.4240G>T (p.Gly1414Cys)
c.3970G>T (p.Gly1324Cys)
c.3322G>T (p.Gly1108Cys)
c.4042G>T (p.Gly1348Cys)
17g.50185786C>GCA400191218COL1A1c.4240G>C (p.Gly1414Arg)
c.3970G>C (p.Gly1324Arg)
c.3322G>C (p.Gly1108Arg)
c.4042G>C (p.Gly1348Arg)
17g.50185786C>TCA400191222COL1A1c.4240G>A (p.Gly1414Ser)
c.3970G>A (p.Gly1324Ser)
c.3322G>A (p.Gly1108Ser)
c.4042G>A (p.Gly1348Ser)
17g.50185787A=CA2263913848COL1A1c.4239T= (p.Asp1413=)
c.3969T= (p.Asp1323=)
c.3321T= (p.Asp1107=)
c.4041T= (p.Asp1347=)
17g.50185787A>CCA400191228COL1A1c.4239T>G (p.Asp1413Glu)
c.3969T>G (p.Asp1323Glu)
c.3321T>G (p.Asp1107Glu)
c.4041T>G (p.Asp1347Glu)
17g.50185787A>GCA8644220COL1A1c.4239T>C (p.Asp1413=)
c.3969T>C (p.Asp1323=)
c.3321T>C (p.Asp1107=)
c.4041T>C (p.Asp1347=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185787A>TCA400191234COL1A1c.4239T>A (p.Asp1413Glu)
c.3969T>A (p.Asp1323Glu)
c.3321T>A (p.Asp1107Glu)
c.4041T>A (p.Asp1347Glu)
 ClinVar dbSNP
17g.50185788T>ACA400191238COL1A1c.4238A>T (p.Asp1413Val)
c.3968A>T (p.Asp1323Val)
c.3320A>T (p.Asp1107Val)
c.4040A>T (p.Asp1347Val)
17g.50185788T>CCA400191242COL1A1c.4238A>G (p.Asp1413Gly)
c.3968A>G (p.Asp1323Gly)
c.3320A>G (p.Asp1107Gly)
c.4040A>G (p.Asp1347Gly)
 ClinVar dbSNP
17g.50185788T>GCA400191245COL1A1c.4238A>C (p.Asp1413Ala)
c.3968A>C (p.Asp1323Ala)
c.3320A>C (p.Asp1107Ala)
c.4040A>C (p.Asp1347Ala)
17g.50185789C>ACA400191258COL1A1c.4237G>T (p.Asp1413Tyr)
c.3967G>T (p.Asp1323Tyr)
c.3319G>T (p.Asp1107Tyr)
c.4039G>T (p.Asp1347Tyr)
17g.50185789C=CA2263913849COL1A1c.4237G= (p.Asp1413=)
c.3967G= (p.Asp1323=)
c.3319G= (p.Asp1107=)
c.4039G= (p.Asp1347=)
17g.50185789C>GCA400191252COL1A1c.4237G>C (p.Asp1413His)
c.3967G>C (p.Asp1323His)
c.3319G>C (p.Asp1107His)
c.4039G>C (p.Asp1347His)
17g.50185789C>TCA291542789COL1A1c.4237G>A (p.Asp1413Asn)
c.3967G>A (p.Asp1323Asn)
c.3319G>A (p.Asp1107Asn)
c.4039G>A (p.Asp1347Asn)
 ClinVar dbSNP
17g.50185791_50185799delCA2695226436COL1A1c.4229_4237del (p.Val1410_Val1412del)
c.3959_3967del (p.Val1320_Val1322del)
c.3311_3319del (p.Val1104_Val1106del)
c.4031_4039del (p.Val1344_Val1346del)
17g.50185790G>ACA8644221COL1A1c.4236C>T (p.Val1412=)
c.3966C>T (p.Val1322=)
c.3318C>T (p.Val1106=)
c.4038C>T (p.Val1346=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185790G>CCA500991520COL1A1c.4236C>G (p.Val1412=)
c.3966C>G (p.Val1322=)
c.3318C>G (p.Val1106=)
c.4038C>G (p.Val1346=)
 gnomAD v4
17g.50185790G=CA2263913850COL1A1c.4236C= (p.Val1412=)
c.3966C= (p.Val1322=)
c.3318C= (p.Val1106=)
c.4038C= (p.Val1346=)
17g.50185790G>TCA8644222COL1A1c.4236C>A (p.Val1412=)
c.3966C>A (p.Val1322=)
c.3318C>A (p.Val1106=)
c.4038C>A (p.Val1346=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185791A=CA2263913851COL1A1c.4235T= (p.Val1412=)
c.3965T= (p.Val1322=)
c.3317T= (p.Val1106=)
c.4037T= (p.Val1346=)
17g.50185791A>CCA400191274COL1A1c.4235T>G (p.Val1412Gly)
c.3965T>G (p.Val1322Gly)
c.3317T>G (p.Val1106Gly)
c.4037T>G (p.Val1346Gly)
17g.50185791A>GCA400191279COL1A1c.4235T>C (p.Val1412Ala)
c.3965T>C (p.Val1322Ala)
c.3317T>C (p.Val1106Ala)
c.4037T>C (p.Val1346Ala)
 dbSNP gnomAD v4
17g.50185791A>TCA400191281COL1A1c.4235T>A (p.Val1412Asp)
c.3965T>A (p.Val1322Asp)
c.3317T>A (p.Val1106Asp)
c.4037T>A (p.Val1346Asp)
17g.50185792C>ACA400191286COL1A1c.4234G>T (p.Val1412Phe)
c.3964G>T (p.Val1322Phe)
c.3316G>T (p.Val1106Phe)
c.4036G>T (p.Val1346Phe)
17g.50185792C=CA2263913852COL1A1c.4234G= (p.Val1412=)
c.3964G= (p.Val1322=)
c.3316G= (p.Val1106=)
c.4036G= (p.Val1346=)
17g.50185792C>GCA400191292COL1A1c.4234G>C (p.Val1412Leu)
c.3964G>C (p.Val1322Leu)
c.3316G>C (p.Val1106Leu)
c.4036G>C (p.Val1346Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.50185792C>TCA400191294COL1A1c.4234G>A (p.Val1412Ile)
c.3964G>A (p.Val1322Ile)
c.3316G>A (p.Val1106Ile)
c.4036G>A (p.Val1346Ile)
17g.50185793A>CCA500991522COL1A1c.4233T>G (p.Thr1411=)
c.3963T>G (p.Thr1321=)
c.3315T>G (p.Thr1105=)
c.4035T>G (p.Thr1345=)
17g.50185793A>GCA500991523COL1A1c.4233T>C (p.Thr1411=)
c.3963T>C (p.Thr1321=)
c.3315T>C (p.Thr1105=)
c.4035T>C (p.Thr1345=)
17g.50185793A>TCA500991524COL1A1c.4233T>A (p.Thr1411=)
c.3963T>A (p.Thr1321=)
c.3315T>A (p.Thr1105=)
c.4035T>A (p.Thr1345=)
17g.50185794G>ACA400191299COL1A1c.4232C>T (p.Thr1411Ile)
c.3962C>T (p.Thr1321Ile)
c.3314C>T (p.Thr1105Ile)
c.4034C>T (p.Thr1345Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.50185794G>CCA400191304COL1A1c.4232C>G (p.Thr1411Ser)
c.3962C>G (p.Thr1321Ser)
c.3314C>G (p.Thr1105Ser)
c.4034C>G (p.Thr1345Ser)
17g.50185794G=CA2263913853COL1A1c.4232C= (p.Thr1411=)
c.3962C= (p.Thr1321=)
c.3314C= (p.Thr1105=)
c.4034C= (p.Thr1345=)
17g.50185794G>TCA400191307COL1A1c.4232C>A (p.Thr1411Asn)
c.3962C>A (p.Thr1321Asn)
c.3314C>A (p.Thr1105Asn)
c.4034C>A (p.Thr1345Asn)
 gnomAD v4
17g.50185795T>ACA400191334COL1A1c.4231A>T (p.Thr1411Ser)
c.3961A>T (p.Thr1321Ser)
c.3313A>T (p.Thr1105Ser)
c.4033A>T (p.Thr1345Ser)
17g.50185795T>CCA400191328COL1A1c.4231A>G (p.Thr1411Ala)
c.3961A>G (p.Thr1321Ala)
c.3313A>G (p.Thr1105Ala)
c.4033A>G (p.Thr1345Ala)
17g.50185795T>GCA400191323COL1A1c.4231A>C (p.Thr1411Pro)
c.3961A>C (p.Thr1321Pro)
c.3313A>C (p.Thr1105Pro)
c.4033A>C (p.Thr1345Pro)
17g.50185796G>ACA500991527COL1A1c.4230C>T (p.Val1410=)
c.3960C>T (p.Val1320=)
c.3312C>T (p.Val1104=)
c.4032C>T (p.Val1344=)
 gnomAD v4
17g.50185796G>CCA500991526COL1A1c.4230C>G (p.Val1410=)
c.3960C>G (p.Val1320=)
c.3312C>G (p.Val1104=)
c.4032C>G (p.Val1344=)
17g.50185796G>TCA500991528COL1A1c.4230C>A (p.Val1410=)
c.3960C>A (p.Val1320=)
c.3312C>A (p.Val1104=)
c.4032C>A (p.Val1344=)
17g.50185797A>CCA400191336COL1A1c.4229T>G (p.Val1410Gly)
c.3959T>G (p.Val1320Gly)
c.3311T>G (p.Val1104Gly)
c.4031T>G (p.Val1344Gly)
17g.50185797A>GCA400191345COL1A1c.4229T>C (p.Val1410Ala)
c.3959T>C (p.Val1320Ala)
c.3311T>C (p.Val1104Ala)
c.4031T>C (p.Val1344Ala)
17g.50185797A>TCA400191342COL1A1c.4229T>A (p.Val1410Asp)
c.3959T>A (p.Val1320Asp)
c.3311T>A (p.Val1104Asp)
c.4031T>A (p.Val1344Asp)
17g.50185798C>ACA400191350COL1A1c.4228G>T (p.Val1410Phe)
c.3958G>T (p.Val1320Phe)
c.3310G>T (p.Val1104Phe)
c.4030G>T (p.Val1344Phe)
17g.50185798C=CA2263913854COL1A1c.4228G= (p.Val1410=)
c.3958G= (p.Val1320=)
c.3310G= (p.Val1104=)
c.4030G= (p.Val1344=)
17g.50185798C>GCA400191355COL1A1c.4228G>C (p.Val1410Leu)
c.3958G>C (p.Val1320Leu)
c.3310G>C (p.Val1104Leu)
c.4030G>C (p.Val1344Leu)
 gnomAD v4
17g.50185798C>TCA8644223COL1A1c.4228G>A (p.Val1410Ile)
c.3958G>A (p.Val1320Ile)
c.3310G>A (p.Val1104Ile)
c.4030G>A (p.Val1344Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185799G>ACA8644224COL1A1c.4227C>T (p.Ser1409=)
c.3957C>T (p.Ser1319=)
c.3309C>T (p.Ser1103=)
c.4029C>T (p.Ser1343=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185799G>CCA400191366COL1A1c.4227C>G (p.Ser1409Arg)
c.3957C>G (p.Ser1319Arg)
c.3309C>G (p.Ser1103Arg)
c.4029C>G (p.Ser1343Arg)
17g.50185799G=CA2263913855COL1A1c.4227C= (p.Ser1409=)
c.3957C= (p.Ser1319=)
c.3309C= (p.Ser1103=)
c.4029C= (p.Ser1343=)
17g.50185799G>TCA400191370COL1A1c.4227C>A (p.Ser1409Arg)
c.3957C>A (p.Ser1319Arg)
c.3309C>A (p.Ser1103Arg)
c.4029C>A (p.Ser1343Arg)
17g.50185800C>ACA400191382COL1A1c.4226G>T (p.Ser1409Ile)
c.3956G>T (p.Ser1319Ile)
c.3308G>T (p.Ser1103Ile)
c.4028G>T (p.Ser1343Ile)
 ClinVar dbSNP gnomAD v4
17g.50185800C=CA2263913856COL1A1c.4226G= (p.Ser1409=)
c.3956G= (p.Ser1319=)
c.3308G= (p.Ser1103=)
c.4028G= (p.Ser1343=)
17g.50185800C>GCA400191386COL1A1c.4226G>C (p.Ser1409Thr)
c.3956G>C (p.Ser1319Thr)
c.3308G>C (p.Ser1103Thr)
c.4028G>C (p.Ser1343Thr)
17g.50185800C>TCA400191390COL1A1c.4226G>A (p.Ser1409Asn)
c.3956G>A (p.Ser1319Asn)
c.3308G>A (p.Ser1103Asn)
c.4028G>A (p.Ser1343Asn)
 gnomAD v4
17g.50185801T>ACA400191395COL1A1c.4225A>T (p.Ser1409Cys)
c.3955A>T (p.Ser1319Cys)
c.3307A>T (p.Ser1103Cys)
c.4027A>T (p.Ser1343Cys)
17g.50185801T>CCA400191399COL1A1c.4225A>G (p.Ser1409Gly)
c.3955A>G (p.Ser1319Gly)
c.3307A>G (p.Ser1103Gly)
c.4027A>G (p.Ser1343Gly)
 dbSNP gnomAD v4
17g.50185801T>GCA400191402COL1A1c.4225A>C (p.Ser1409Arg)
c.3955A>C (p.Ser1319Arg)
c.3307A>C (p.Ser1103Arg)
c.4027A>C (p.Ser1343Arg)
17g.50185801T=CA2263913857COL1A1c.4225A= (p.Ser1409=)
c.3955A= (p.Ser1319=)
c.3307A= (p.Ser1103=)
c.4027A= (p.Ser1343=)
17g.50185802G>ACA8644225COL1A1c.4224C>T (p.Tyr1408=)
c.3954C>T (p.Tyr1318=)
c.3306C>T (p.Tyr1102=)
c.4026C>T (p.Tyr1342=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185802G>CCA400191405COL1A1c.4224C>G (p.Tyr1408Ter)
c.3954C>G (p.Tyr1318Ter)
c.3306C>G (p.Tyr1102Ter)
c.4026C>G (p.Tyr1342Ter)
17g.50185802G=CA2263913858COL1A1c.4224C= (p.Tyr1408=)
c.3954C= (p.Tyr1318=)
c.3306C= (p.Tyr1102=)
c.4026C= (p.Tyr1342=)
17g.50185802G>TCA400191409COL1A1c.4224C>A (p.Tyr1408Ter)
c.3954C>A (p.Tyr1318Ter)
c.3306C>A (p.Tyr1102Ter)
c.4026C>A (p.Tyr1342Ter)
17g.50185803T>ACA400191420COL1A1c.4223A>T (p.Tyr1408Phe)
c.3953A>T (p.Tyr1318Phe)
c.3305A>T (p.Tyr1102Phe)
c.4025A>T (p.Tyr1342Phe)
17g.50185803T>CCA400191423COL1A1c.4223A>G (p.Tyr1408Cys)
c.3953A>G (p.Tyr1318Cys)
c.3305A>G (p.Tyr1102Cys)
c.4025A>G (p.Tyr1342Cys)
17g.50185803T>GCA400191426COL1A1c.4223A>C (p.Tyr1408Ser)
c.3953A>C (p.Tyr1318Ser)
c.3305A>C (p.Tyr1102Ser)
c.4025A>C (p.Tyr1342Ser)
17g.50185804A>CCA400191432COL1A1c.4222T>G (p.Tyr1408Asp)
c.3952T>G (p.Tyr1318Asp)
c.3304T>G (p.Tyr1102Asp)
c.4024T>G (p.Tyr1342Asp)
17g.50185804A>GCA400191435COL1A1c.4222T>C (p.Tyr1408His)
c.3952T>C (p.Tyr1318His)
c.3304T>C (p.Tyr1102His)
c.4024T>C (p.Tyr1342His)
17g.50185804A>TCA400191437COL1A1c.4222T>A (p.Tyr1408Asn)
c.3952T>A (p.Tyr1318Asn)
c.3304T>A (p.Tyr1102Asn)
c.4024T>A (p.Tyr1342Asn)
17g.50185805G>ACA500991531COL1A1c.4221C>T (p.Thr1407=)
c.3951C>T (p.Thr1317=)
c.3303C>T (p.Thr1101=)
c.4023C>T (p.Thr1341=)
17g.50185805G>CCA500991532COL1A1c.4221C>G (p.Thr1407=)
c.3951C>G (p.Thr1317=)
c.3303C>G (p.Thr1101=)
c.4023C>G (p.Thr1341=)
17g.50185805G>TCA500991533COL1A1c.4221C>A (p.Thr1407=)
c.3951C>A (p.Thr1317=)
c.3303C>A (p.Thr1101=)
c.4023C>A (p.Thr1341=)
17g.50185806G>ACA400191442COL1A1c.4220C>T (p.Thr1407Ile)
c.3950C>T (p.Thr1317Ile)
c.3302C>T (p.Thr1101Ile)
c.4022C>T (p.Thr1341Ile)
17g.50185806G>CCA400191445COL1A1c.4220C>G (p.Thr1407Ser)
c.3950C>G (p.Thr1317Ser)
c.3302C>G (p.Thr1101Ser)
c.4022C>G (p.Thr1341Ser)
17g.50185806G>TCA400191449COL1A1c.4220C>A (p.Thr1407Asn)
c.3950C>A (p.Thr1317Asn)
c.3302C>A (p.Thr1101Asn)
c.4022C>A (p.Thr1341Asn)
17g.50185807T>ACA400191460COL1A1c.4219A>T (p.Thr1407Ser)
c.3949A>T (p.Thr1317Ser)
c.3301A>T (p.Thr1101Ser)
c.4021A>T (p.Thr1341Ser)
17g.50185807T>CCA400191463COL1A1c.4219A>G (p.Thr1407Ala)
c.3949A>G (p.Thr1317Ala)
c.3301A>G (p.Thr1101Ala)
c.4021A>G (p.Thr1341Ala)
 gnomAD v4
17g.50185807T>GCA400191466COL1A1c.4219A>C (p.Thr1407Pro)
c.3949A>C (p.Thr1317Pro)
c.3301A>C (p.Thr1101Pro)
c.4021A>C (p.Thr1341Pro)
17g.50185808G>ACA500991537COL1A1c.4218C>T (p.Phe1406=)
c.3948C>T (p.Phe1316=)
c.3300C>T (p.Phe1100=)
c.4020C>T (p.Phe1340=)
 gnomAD v4
17g.50185808G>CCA400191472COL1A1c.4218C>G (p.Phe1406Leu)
c.3948C>G (p.Phe1316Leu)
c.3300C>G (p.Phe1100Leu)
c.4020C>G (p.Phe1340Leu)
17g.50185808G>TCA400191475COL1A1c.4218C>A (p.Phe1406Leu)
c.3948C>A (p.Phe1316Leu)
c.3300C>A (p.Phe1100Leu)
c.4020C>A (p.Phe1340Leu)
 gnomAD v4
17g.50185809A>CCA400191488COL1A1c.4217T>G (p.Phe1406Cys)
c.3947T>G (p.Phe1316Cys)
c.3299T>G (p.Phe1100Cys)
c.4019T>G (p.Phe1340Cys)
17g.50185809A>GCA400191492COL1A1c.4217T>C (p.Phe1406Ser)
c.3947T>C (p.Phe1316Ser)
c.3299T>C (p.Phe1100Ser)
c.4019T>C (p.Phe1340Ser)
17g.50185809A>TCA400191495COL1A1c.4217T>A (p.Phe1406Tyr)
c.3947T>A (p.Phe1316Tyr)
c.3299T>A (p.Phe1100Tyr)
c.4019T>A (p.Phe1340Tyr)
 gnomAD v4
17g.50185810A>CCA400191499COL1A1c.4216T>G (p.Phe1406Val)
c.3946T>G (p.Phe1316Val)
c.3298T>G (p.Phe1100Val)
c.4018T>G (p.Phe1340Val)
17g.50185810A>GCA400191501COL1A1c.4216T>C (p.Phe1406Leu)
c.3946T>C (p.Phe1316Leu)
c.3298T>C (p.Phe1100Leu)
c.4018T>C (p.Phe1340Leu)
17g.50185810A>TCA400191504COL1A1c.4216T>A (p.Phe1406Ile)
c.3946T>A (p.Phe1316Ile)
c.3298T>A (p.Phe1100Ile)
c.4018T>A (p.Phe1340Ile)
17g.50185811G>ACA500991538COL1A1c.4215C>T (p.Arg1405=)
c.3945C>T (p.Arg1315=)
c.3297C>T (p.Arg1099=)
c.4017C>T (p.Arg1339=)
 dbSNP gnomAD v4
17g.50185811G>CCA500991539COL1A1c.4215C>G (p.Arg1405=)
c.3945C>G (p.Arg1315=)
c.3297C>G (p.Arg1099=)
c.4017C>G (p.Arg1339=)
17g.50185811G=CA2263913859COL1A1c.4215C= (p.Arg1405=)
c.3945C= (p.Arg1315=)
c.3297C= (p.Arg1099=)
c.4017C= (p.Arg1339=)
17g.50185811G>TCA500991540COL1A1c.4215C>A (p.Arg1405=)
c.3945C>A (p.Arg1315=)
c.3297C>A (p.Arg1099=)
c.4017C>A (p.Arg1339=)
 dbSNP
17g.50185812C>ACA400191507COL1A1c.4214G>T (p.Arg1405Leu)
c.3944G>T (p.Arg1315Leu)
c.3296G>T (p.Arg1099Leu)
c.4016G>T (p.Arg1339Leu)
17g.50185812C=CA2263913860COL1A1c.4214G= (p.Arg1405=)
c.3944G= (p.Arg1315=)
c.3296G= (p.Arg1099=)
c.4016G= (p.Arg1339=)
17g.50185812C>GCA400191512COL1A1c.4214G>C (p.Arg1405Pro)
c.3944G>C (p.Arg1315Pro)
c.3296G>C (p.Arg1099Pro)
c.4016G>C (p.Arg1339Pro)
 gnomAD v4
17g.50185812C>TCA8644226COL1A1c.4214G>A (p.Arg1405His)
c.3944G>A (p.Arg1315His)
c.3296G>A (p.Arg1099His)
c.4016G>A (p.Arg1339His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.50185813G>ACA400191518COL1A1c.4213C>T (p.Arg1405Cys)
c.3943C>T (p.Arg1315Cys)
c.3295C>T (p.Arg1099Cys)
c.4015C>T (p.Arg1339Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.50185813G>CCA400191521COL1A1c.4213C>G (p.Arg1405Gly)
c.3943C>G (p.Arg1315Gly)
c.3295C>G (p.Arg1099Gly)
c.4015C>G (p.Arg1339Gly)
17g.50185813G=CA2263913861COL1A1c.4213C= (p.Arg1405=)
c.3943C= (p.Arg1315=)
c.3295C= (p.Arg1099=)
c.4015C= (p.Arg1339=)
17g.50185813G>TCA400191524COL1A1c.4213C>A (p.Arg1405Ser)
c.3943C>A (p.Arg1315Ser)
c.3295C>A (p.Arg1099Ser)
c.4015C>A (p.Arg1339Ser)
 ClinVar
17g.50185814G>ACA8644227COL1A1c.4212C>T (p.Ser1404=)
c.3942C>T (p.Ser1314=)
c.3294C>T (p.Ser1098=)
c.4014C>T (p.Ser1338=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185814G>CCA400191529COL1A1c.4212C>G (p.Ser1404Arg)
c.3942C>G (p.Ser1314Arg)
c.3294C>G (p.Ser1098Arg)
c.4014C>G (p.Ser1338Arg)
17g.50185814G=CA2263913862COL1A1c.4212C= (p.Ser1404=)
c.3942C= (p.Ser1314=)
c.3294C= (p.Ser1098=)
c.4014C= (p.Ser1338=)
17g.50185814G>TCA400191527COL1A1c.4212C>A (p.Ser1404Arg)
c.3942C>A (p.Ser1314Arg)
c.3294C>A (p.Ser1098Arg)
c.4014C>A (p.Ser1338Arg)
 gnomAD v4
17g.50185815C>ACA400191532COL1A1c.4211G>T (p.Ser1404Ile)
c.3941G>T (p.Ser1314Ile)
c.3293G>T (p.Ser1098Ile)
c.4013G>T (p.Ser1338Ile)
17g.50185815C=CA2263913863COL1A1c.4211G= (p.Ser1404=)
c.3941G= (p.Ser1314=)
c.3293G= (p.Ser1098=)
c.4013G= (p.Ser1338=)
17g.50185815C>GCA400191533COL1A1c.4211G>C (p.Ser1404Thr)
c.3941G>C (p.Ser1314Thr)
c.3293G>C (p.Ser1098Thr)
c.4013G>C (p.Ser1338Thr)
17g.50185815C>TCA8644228COL1A1c.4211G>A (p.Ser1404Asn)
c.3941G>A (p.Ser1314Asn)
c.3293G>A (p.Ser1098Asn)
c.4013G>A (p.Ser1338Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185816T>ACA400191540COL1A1c.4210A>T (p.Ser1404Cys)
c.3940A>T (p.Ser1314Cys)
c.3292A>T (p.Ser1098Cys)
c.4012A>T (p.Ser1338Cys)
17g.50185816T>CCA8644229COL1A1c.4210A>G (p.Ser1404Gly)
c.3940A>G (p.Ser1314Gly)
c.3292A>G (p.Ser1098Gly)
c.4012A>G (p.Ser1338Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.50185816T>GCA400191546COL1A1c.4210A>C (p.Ser1404Arg)
c.3940A>C (p.Ser1314Arg)
c.3292A>C (p.Ser1098Arg)
c.4012A>C (p.Ser1338Arg)
17g.50185816T=CA2263913864COL1A1c.4210A= (p.Ser1404=)
c.3940A= (p.Ser1314=)
c.3292A= (p.Ser1098=)
c.4012A= (p.Ser1338=)
17g.50185817G>ACA291542791COL1A1c.4209C>T (p.Asn1403=)
c.3939C>T (p.Asn1313=)
c.3291C>T (p.Asn1097=)
c.4011C>T (p.Asn1337=)
 dbSNP gnomAD v4
17g.50185817G>CCA400191552COL1A1c.4209C>G (p.Asn1403Lys)
c.3939C>G (p.Asn1313Lys)
c.3291C>G (p.Asn1097Lys)
c.4011C>G (p.Asn1337Lys)
17g.50185817G=CA2263913865COL1A1c.4209C= (p.Asn1403=)
c.3939C= (p.Asn1313=)
c.3291C= (p.Asn1097=)
c.4011C= (p.Asn1337=)
17g.50185817G>TCA400191555COL1A1c.4209C>A (p.Asn1403Lys)
c.3939C>A (p.Asn1313Lys)
c.3291C>A (p.Asn1097Lys)
c.4011C>A (p.Asn1337Lys)
17g.50185817_50185818insGGGCA291542790COL1A1c.4209_4210insCCC (p.Asn1403_Ser1404insPro)
c.3939_3940insCCC (p.Asn1313_Ser1314insPro)
c.3291_3292insCCC (p.Asn1097_Ser1098insPro)
c.4011_4012insCCC (p.Asn1337_Ser1338insPro)
 dbSNP
17g.50185818T>ACA400191559COL1A1c.4208A>T (p.Asn1403Ile)
c.3938A>T (p.Asn1313Ile)
c.3290A>T (p.Asn1097Ile)
c.4010A>T (p.Asn1337Ile)
17g.50185818T>CCA400191563COL1A1c.4208A>G (p.Asn1403Ser)
c.3938A>G (p.Asn1313Ser)
c.3290A>G (p.Asn1097Ser)
c.4010A>G (p.Asn1337Ser)
17g.50185818T>GCA8644230COL1A1c.4208A>C (p.Asn1403Thr)
c.3938A>C (p.Asn1313Thr)
c.3290A>C (p.Asn1097Thr)
c.4010A>C (p.Asn1337Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.50185818T=CA2263913866COL1A1c.4208A= (p.Asn1403=)
c.3938A= (p.Asn1313=)
c.3290A= (p.Asn1097=)
c.4010A= (p.Asn1337=)
17g.50185819T>ACA400191575COL1A1c.4207A>T (p.Asn1403Tyr)
c.3937A>T (p.Asn1313Tyr)
c.3289A>T (p.Asn1097Tyr)
c.4009A>T (p.Asn1337Tyr)
17g.50185819T>CCA400191581COL1A1c.4207A>G (p.Asn1403Asp)
c.3937A>G (p.Asn1313Asp)
c.3289A>G (p.Asn1097Asp)
c.4009A>G (p.Asn1337Asp)
17g.50185819T>GCA400191579COL1A1c.4207A>C (p.Asn1403His)
c.3937A>C (p.Asn1313His)
c.3289A>C (p.Asn1097His)
c.4009A>C (p.Asn1337His)

Number of alleles fetched