Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50185650_50185778del | CA2809756914 | COL1A1 | c.4248+1_4249-1del c.3978+1_3979-1del c.3330+1_3331-1del c.4050+1_4051-1del | |
17 | g.50185708G>A | CA2638704586 | COL1A1 | c.4249-60C>T (n.4249-60C>T) c.3979-60C>T (n.3979-60C>T) c.3331-60C>T (n.3331-60C>T) c.4051-60C>T (n.4051-60C>T) | gnomAD v4 |
17 | g.50185708G= | CA2263913806 | COL1A1 | c.4249-60C= (n.4249-60C=) c.3979-60C= (n.3979-60C=) c.3331-60C= (n.3331-60C=) c.4051-60C= (n.4051-60C=) | |
17 | g.50185708G>T | CA2263913807 | COL1A1 | c.4249-60C>A (n.4249-60C>A) c.3979-60C>A (n.3979-60C>A) c.3331-60C>A (n.3331-60C>A) c.4051-60C>A (n.4051-60C>A) | dbSNP |
17 | g.50185710A>T | CA2638704587 | COL1A1 | c.4249-62T>A (n.4249-62T>A) c.3979-62T>A (n.3979-62T>A) c.3331-62T>A (n.3331-62T>A) c.4051-62T>A (n.4051-62T>A) | gnomAD v4 |
17 | g.50185711C= | CA2263913808 | COL1A1 | c.4249-63G= (n.4249-63G=) c.3979-63G= (n.3979-63G=) c.3331-63G= (n.3331-63G=) c.4051-63G= (n.4051-63G=) | |
17 | g.50185711C>G | CA2263913809 | COL1A1 | c.4249-63G>C (n.4249-63G>C) c.3979-63G>C (n.3979-63G>C) c.3331-63G>C (n.3331-63G>C) c.4051-63G>C (n.4051-63G>C) | dbSNP gnomAD v4 |
17 | g.50185711C>T | CA2263913810 | COL1A1 | c.4249-63G>A (n.4249-63G>A) c.3979-63G>A (n.3979-63G>A) c.3331-63G>A (n.3331-63G>A) c.4051-63G>A (n.4051-63G>A) | dbSNP |
17 | g.50185712T>A | CA2576316976 | COL1A1 | c.4249-64A>T (n.4249-64A>T) c.3979-64A>T (n.3979-64A>T) c.3331-64A>T (n.3331-64A>T) c.4051-64A>T (n.4051-64A>T) | gnomAD v4 |
17 | g.50185713A= | CA2263913812 | COL1A1 | c.4249-65T= (n.4249-65T=) c.3979-65T= (n.3979-65T=) c.3331-65T= (n.3331-65T=) c.4051-65T= (n.4051-65T=) | |
17 | g.50185713A>G | CA772780278 | COL1A1 | c.4249-65T>C (n.4249-65T>C) c.3979-65T>C (n.3979-65T>C) c.3331-65T>C (n.3331-65T>C) c.4051-65T>C (n.4051-65T>C) | dbSNP gnomAD v4 |
17 | g.50185713_50185718delinsATGGCC | CA2263913811 | COL1A1 | c.4248+60_4249-65delinsGGCCAT (n.4248+60_4249-65delinsGGCCAT) c.3978+60_3979-65delinsGGCCAT (n.3978+60_3979-65delinsGGCCAT) c.3330+60_3331-65delinsGGCCAT (n.3330+60_3331-65delinsGGCCAT) c.4050+60_4051-65delinsGGCCAT (n.4050+60_4051-65delinsGGCCAT) | |
17 | g.50185714T>A | CA2638704589 | COL1A1 | c.4248+64A>T (n.4248+64A>T) c.3978+64A>T (n.3978+64A>T) c.3330+64A>T (n.3330+64A>T) c.4050+64A>T (n.4050+64A>T) | gnomAD v4 |
17 | g.50185714T>C | CA291542776 | COL1A1 | c.4248+64A>G (n.4248+64A>G) c.3978+64A>G (n.3978+64A>G) c.3330+64A>G (n.3330+64A>G) c.4050+64A>G (n.4050+64A>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.50185714T= | CA2263913814 | COL1A1 | c.4248+64A= (n.4248+64A=) c.3978+64A= (n.3978+64A=) c.3330+64A= (n.3330+64A=) c.4050+64A= (n.4050+64A=) | |
17 | g.50185719_50185723del | CA2263913813 | COL1A1 | c.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 |
17 | g.50185716G>A | CA2576316977 | COL1A1 | c.4248+62C>T (n.4248+62C>T) c.3978+62C>T (n.3978+62C>T) c.3330+62C>T (n.3330+62C>T) c.4050+62C>T (n.4050+62C>T) | gnomAD v4 |
17 | g.50185717C>T | CA2638704590 | COL1A1 | c.4248+61G>A (n.4248+61G>A) c.3978+61G>A (n.3978+61G>A) c.3330+61G>A (n.3330+61G>A) c.4050+61G>A (n.4050+61G>A) | gnomAD v4 |
17 | g.50185718C>A | CA2576316978 | COL1A1 | c.4248+60G>T (n.4248+60G>T) c.3978+60G>T (n.3978+60G>T) c.3330+60G>T (n.3330+60G>T) c.4050+60G>T (n.4050+60G>T) | |
17 | g.50185718C>T | CA2638704591 | COL1A1 | c.4248+60G>A (n.4248+60G>A) c.3978+60G>A (n.3978+60G>A) c.3330+60G>A (n.3330+60G>A) c.4050+60G>A (n.4050+60G>A) | gnomAD v4 |
17 | g.50185720G>A | CA2638704592 | COL1A1 | c.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 |
17 | g.50185722C>T | CA2638704593 | COL1A1 | c.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 |
17 | g.50185723C>T | CA2638704594 | COL1A1 | c.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 |
17 | g.50185728del | CA2638704595 | COL1A1 | c.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 |
17 | g.50185726A>G | CA2638704596 | COL1A1 | c.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 |
17 | g.50185726_50185727insCACACCCAACAC | CA2809756932 | COL1A1 | c.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) | |
17 | g.50185728A= | CA2263913815 | COL1A1 | c.4248+50T= (n.4248+50T=) c.3978+50T= (n.3978+50T=) c.3330+50T= (n.3330+50T=) c.4050+50T= (n.4050+50T=) | |
17 | g.50185728A>G | CA2576316979 | COL1A1 | c.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 |
17 | g.50185728A>T | CA291542777 | COL1A1 | c.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 |
17 | g.50185730C>T | CA2638704597 | COL1A1 | c.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 |
17 | g.50185733A>T | CA2638704598 | COL1A1 | c.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 |
17 | g.50185734A= | CA2263913816 | COL1A1 | c.4248+44T= (n.4248+44T=) c.3978+44T= (n.3978+44T=) c.3330+44T= (n.3330+44T=) c.4050+44T= (n.4050+44T=) | |
17 | g.50185734A>C | CA291542778 | COL1A1 | c.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 |
17 | g.50185734A>G | CA2576316980 | COL1A1 | c.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) | |
17 | g.50185735G>C | CA8644209 | COL1A1 | c.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 |
17 | g.50185735G= | CA2263913817 | COL1A1 | c.4248+43C= (n.4248+43C=) c.3978+43C= (n.3978+43C=) c.3330+43C= (n.3330+43C=) c.4050+43C= (n.4050+43C=) | |
17 | g.50185736del | CA2638704599 | COL1A1 | c.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 |
17 | g.50185736G>A | CA8644210 | COL1A1 | c.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 |
17 | g.50185736G= | CA2263913818 | COL1A1 | c.4248+42C= (n.4248+42C=) c.3978+42C= (n.3978+42C=) c.3330+42C= (n.3330+42C=) c.4050+42C= (n.4050+42C=) | |
17 | g.50185737C= | CA2263913819 | COL1A1 | c.4248+41G= (n.4248+41G=) c.3978+41G= (n.3978+41G=) c.3330+41G= (n.3330+41G=) c.4050+41G= (n.4050+41G=) | |
17 | g.50185737C>T | CA8644211 | COL1A1 | c.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 |
17 | g.50185738C= | CA2263913820 | COL1A1 | c.4248+40G= (n.4248+40G=) c.3978+40G= (n.3978+40G=) c.3330+40G= (n.3330+40G=) c.4050+40G= (n.4050+40G=) | |
17 | g.50185738C>T | CA8644212 | COL1A1 | c.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 |
17 | g.50185739G>A | CA8644213 | COL1A1 | c.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 |
17 | g.50185739G= | CA2263913821 | COL1A1 | c.4248+39C= (n.4248+39C=) c.3978+39C= (n.3978+39C=) c.3330+39C= (n.3330+39C=) c.4050+39C= (n.4050+39C=) | |
17 | g.50185740G>A | CA2733839128 | COL1A1 | c.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 |
17 | g.50185740G>T | CA2638704600 | COL1A1 | c.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 |
17 | g.50185744G>A | CA772780289 | COL1A1 | c.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 |
17 | g.50185744G= | CA2263913822 | COL1A1 | c.4248+34C= (n.4248+34C=) c.3978+34C= (n.3978+34C=) c.3330+34C= (n.3330+34C=) c.4050+34C= (n.4050+34C=) | |
17 | g.50185745G>A | CA2263913824 | COL1A1 | c.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 |
17 | g.50185745G= | CA2263913823 | COL1A1 | c.4248+33C= (n.4248+33C=) c.3978+33C= (n.3978+33C=) c.3330+33C= (n.3330+33C=) c.4050+33C= (n.4050+33C=) | |
17 | g.50185746T>G | CA2263913826 | COL1A1 | c.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 |
17 | g.50185746T= | CA2263913825 | COL1A1 | c.4248+32A= (n.4248+32A=) c.3978+32A= (n.3978+32A=) c.3330+32A= (n.3330+32A=) c.4050+32A= (n.4050+32A=) | |
17 | g.50185747G>C | CA291542779 | COL1A1 | c.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 |
17 | g.50185747G= | CA2263913827 | COL1A1 | c.4248+31C= (n.4248+31C=) c.3978+31C= (n.3978+31C=) c.3330+31C= (n.3330+31C=) c.4050+31C= (n.4050+31C=) | |
17 | g.50185748G>A | CA8644214 | COL1A1 | c.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 |
17 | g.50185748G= | CA2263913828 | COL1A1 | c.4248+30C= (n.4248+30C=) c.3978+30C= (n.3978+30C=) c.3330+30C= (n.3330+30C=) c.4050+30C= (n.4050+30C=) | |
17 | g.50185749G>A | CA2638704601 | COL1A1 | c.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 |
17 | g.50185750G= | CA2263913829 | COL1A1 | c.4248+28C= (n.4248+28C=) c.3978+28C= (n.3978+28C=) c.3330+28C= (n.3330+28C=) c.4050+28C= (n.4050+28C=) | |
17 | g.50185750G>T | CA291542780 | COL1A1 | c.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 |
17 | g.50185751C>A | CA8644215 | COL1A1 | c.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 |
17 | g.50185751C= | CA2263913830 | COL1A1 | c.4248+27G= (n.4248+27G=) c.3978+27G= (n.3978+27G=) c.3330+27G= (n.3330+27G=) c.4050+27G= (n.4050+27G=) | |
17 | g.50185751C>T | CA291542781 | COL1A1 | c.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 |
17 | g.50185752C= | CA2263913831 | COL1A1 | c.4248+26G= (n.4248+26G=) c.3978+26G= (n.3978+26G=) c.3330+26G= (n.3330+26G=) c.4050+26G= (n.4050+26G=) | |
17 | g.50185752C>T | CA772780295 | COL1A1 | c.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 |
17 | g.50185753C>T | CA2638704602 | COL1A1 | c.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 |
17 | g.50185754T>G | CA291542782 | COL1A1 | c.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 |
17 | g.50185754T= | CA2263913832 | COL1A1 | c.4248+24A= (n.4248+24A=) c.3978+24A= (n.3978+24A=) c.3330+24A= (n.3330+24A=) c.4050+24A= (n.4050+24A=) | |
17 | g.50185755G>A | CA8644216 | COL1A1 | c.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 |
17 | g.50185755G= | CA2263913833 | COL1A1 | c.4248+23C= (n.4248+23C=) c.3978+23C= (n.3978+23C=) c.3330+23C= (n.3330+23C=) c.4050+23C= (n.4050+23C=) | |
17 | g.50185756C>T | CA2809756935 | COL1A1 | c.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) | |
17 | g.50185758T>C | CA8644217 | COL1A1 | c.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 |
17 | g.50185758T= | CA2263913834 | COL1A1 | c.4248+20A= (n.4248+20A=) c.3978+20A= (n.3978+20A=) c.3330+20A= (n.3330+20A=) c.4050+20A= (n.4050+20A=) | |
17 | g.50185760G>T | CA2638704605 | COL1A1 | c.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 |
17 | g.50185761G>A | CA2556591589 | COL1A1 | c.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 |
17 | g.50185762G>A | CA772780298 | COL1A1 | c.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 |
17 | g.50185762G= | CA2263913835 | COL1A1 | c.4248+16C= (n.4248+16C=) c.3978+16C= (n.3978+16C=) c.3330+16C= (n.3330+16C=) c.4050+16C= (n.4050+16C=) | |
17 | g.50185762G>T | CA291542783 | COL1A1 | c.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 |
17 | g.50185764T>C | CA2638704609 | COL1A1 | c.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 |
17 | g.50185765T>A | CA2263913837 | COL1A1 | c.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 |
17 | g.50185765T= | CA2263913836 | COL1A1 | c.4248+13A= (n.4248+13A=) c.3978+13A= (n.3978+13A=) c.3330+13A= (n.3330+13A=) c.4050+13A= (n.4050+13A=) | |
17 | g.50185766C>T | CA2576316981 | COL1A1 | c.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) | |
17 | g.50185767T>C | CA2809756938 | COL1A1 | c.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) | |
17 | g.50185770del | CA2638704611 | COL1A1 | c.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 |
17 | g.50185769G>C | CA2638704613 | COL1A1 | c.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 |
17 | g.50185774_50185777dup | CA2638704616 | COL1A1 | c.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 |
17 | g.50185772A= | CA2263913838 | COL1A1 | c.4248+6T= (n.4248+6T=) c.3978+6T= (n.3978+6T=) c.3330+6T= (n.3330+6T=) c.4050+6T= (n.4050+6T=) | |
17 | g.50185772A>G | CA291542784 | COL1A1 | c.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 |
17 | g.50185773C>G | CA2580094164 | COL1A1 | c.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 |
17 | g.50185773C>T | CA2638704623 | COL1A1 | c.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 |
17 | g.50185774T>C | CA8644218 | COL1A1 | c.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 |
17 | g.50185774T>G | CA2576316982 | COL1A1 | c.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 |
17 | g.50185774T= | CA2263913839 | COL1A1 | c.4248+4A= (n.4248+4A=) c.3978+4A= (n.3978+4A=) c.3330+4A= (n.3330+4A=) c.4050+4A= (n.4050+4A=) | |
17 | g.50185775C>T | CA2739268222 | COL1A1 | c.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 |
17 | g.50185776A= | CA2263913840 | COL1A1 | c.4248+2T= (n.4248+2T=) c.3978+2T= (n.3978+2T=) c.3330+2T= (n.3330+2T=) c.4050+2T= (n.4050+2T=) | |
17 | g.50185776A>C | CA291542785 | COL1A1 | c.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 |
17 | g.50185776A>G | CA400191113 | COL1A1 | c.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 |
17 | g.50185776A>T | CA291542786 | COL1A1 | c.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 |
17 | g.50185776_50185783delinsTG | CA2695226431 | COL1A1 | c.4243_4248+2delinsCA c.3973_3978+2delinsCA c.3325_3330+2delinsCA c.4045_4050+2delinsCA | |
17 | g.50185777C>A | CA400191129 | COL1A1 | c.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) | |
17 | g.50185777C= | CA2263913841 | COL1A1 | c.4248+1G= (n.4248+1G=) c.3978+1G= (n.3978+1G=) c.3330+1G= (n.3330+1G=) c.4050+1G= (n.4050+1G=) | |
17 | g.50185777C>G | CA291542787 | COL1A1 | c.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 |
17 | g.50185777C>T | CA291542788 | COL1A1 | c.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 |
17 | g.50185778C>A | CA500991506 | COL1A1 | c.4248G>T (p.Thr1416=) c.3978G>T (p.Thr1326=) c.3330G>T (p.Thr1110=) c.4050G>T (p.Thr1350=) | |
17 | g.50185778C= | CA2263913843 | COL1A1 | c.4248G= (p.Thr1416=) c.3978G= (p.Thr1326=) c.3330G= (p.Thr1110=) c.4050G= (p.Thr1350=) | |
17 | g.50185778C>G | CA500991507 | COL1A1 | c.4248G>C (p.Thr1416=) c.3978G>C (p.Thr1326=) c.3330G>C (p.Thr1110=) c.4050G>C (p.Thr1350=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185778C>T | CA8644219 | COL1A1 | c.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 |
17 | g.50185778_50185779delinsCG | CA2263913842 | COL1A1 | c.4247_4248delinsCG (p.Thr1416=) c.3977_3978delinsCG (p.Thr1326=) c.3329_3330delinsCG (p.Thr1110=) c.4049_4050delinsCG (p.Thr1350=) | |
17 | g.50185780_50185790dup | CA2695226432 | COL1A1 | c.4238_4248dup (p.Ser1417MetfsTer14) c.3968_3978dup (p.Ser1327MetfsTer14) c.3320_3330dup (p.Ser1111MetfsTer14) c.4040_4050dup (p.Ser1351MetfsTer14) | |
17 | g.50185779del | CA261265 | COL1A1 | c.4247del (p.Thr1416ArgfsTer11) c.3977del (p.Thr1326ArgfsTer11) c.3329del (p.Thr1110ArgfsTer11) c.4049del (p.Thr1350ArgfsTer11) | ClinVar dbSNP |
17 | g.50185779G>A | CA400191138 | COL1A1 | c.4247C>T (p.Thr1416Met) c.3977C>T (p.Thr1326Met) c.3329C>T (p.Thr1110Met) c.4049C>T (p.Thr1350Met) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.50185779G>C | CA400191143 | COL1A1 | c.4247C>G (p.Thr1416Arg) c.3977C>G (p.Thr1326Arg) c.3329C>G (p.Thr1110Arg) c.4049C>G (p.Thr1350Arg) | |
17 | g.50185779G= | CA2263913844 | COL1A1 | c.4247C= (p.Thr1416=) c.3977C= (p.Thr1326=) c.3329C= (p.Thr1110=) c.4049C= (p.Thr1350=) | |
17 | g.50185779G>T | CA400191146 | COL1A1 | c.4247C>A (p.Thr1416Lys) c.3977C>A (p.Thr1326Lys) c.3329C>A (p.Thr1110Lys) c.4049C>A (p.Thr1350Lys) | |
17 | g.50185780T>A | CA400191153 | COL1A1 | c.4246A>T (p.Thr1416Ser) c.3976A>T (p.Thr1326Ser) c.3328A>T (p.Thr1110Ser) c.4048A>T (p.Thr1350Ser) | |
17 | g.50185780T>C | CA400191157 | COL1A1 | c.4246A>G (p.Thr1416Ala) c.3976A>G (p.Thr1326Ala) c.3328A>G (p.Thr1110Ala) c.4048A>G (p.Thr1350Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185780T>G | CA400191162 | COL1A1 | c.4246A>C (p.Thr1416Pro) c.3976A>C (p.Thr1326Pro) c.3328A>C (p.Thr1110Pro) c.4048A>C (p.Thr1350Pro) | |
17 | g.50185780T= | CA2263913845 | COL1A1 | c.4246A= (p.Thr1416=) c.3976A= (p.Thr1326=) c.3328A= (p.Thr1110=) c.4048A= (p.Thr1350=) | |
17 | g.50185781G>A | CA500991509 | COL1A1 | c.4245C>T (p.Cys1415=) c.3975C>T (p.Cys1325=) c.3327C>T (p.Cys1109=) c.4047C>T (p.Cys1349=) | dbSNP |
17 | g.50185781G>C | CA400191167 | COL1A1 | c.4245C>G (p.Cys1415Trp) c.3975C>G (p.Cys1325Trp) c.3327C>G (p.Cys1109Trp) c.4047C>G (p.Cys1349Trp) | |
17 | g.50185781G= | CA2263913846 | COL1A1 | c.4245C= (p.Cys1415=) c.3975C= (p.Cys1325=) c.3327C= (p.Cys1109=) c.4047C= (p.Cys1349=) | |
17 | g.50185781G>T | CA400191169 | COL1A1 | c.4245C>A (p.Cys1415Ter) c.3975C>A (p.Cys1325Ter) c.3327C>A (p.Cys1109Ter) c.4047C>A (p.Cys1349Ter) | ClinVar dbSNP |
17 | g.50185782C>A | CA400191176 | COL1A1 | c.4244G>T (p.Cys1415Phe) c.3974G>T (p.Cys1325Phe) c.3326G>T (p.Cys1109Phe) c.4046G>T (p.Cys1349Phe) | COSMIC |
17 | g.50185782C>G | CA400191179 | COL1A1 | c.4244G>C (p.Cys1415Ser) c.3974G>C (p.Cys1325Ser) c.3326G>C (p.Cys1109Ser) c.4046G>C (p.Cys1349Ser) | |
17 | g.50185782C>T | CA400191184 | COL1A1 | c.4244G>A (p.Cys1415Tyr) c.3974G>A (p.Cys1325Tyr) c.3326G>A (p.Cys1109Tyr) c.4046G>A (p.Cys1349Tyr) | |
17 | g.50185783A>C | CA400191189 | COL1A1 | c.4243T>G (p.Cys1415Gly) c.3973T>G (p.Cys1325Gly) c.3325T>G (p.Cys1109Gly) c.4045T>G (p.Cys1349Gly) | |
17 | g.50185783A>G | CA400191192 | COL1A1 | c.4243T>C (p.Cys1415Arg) c.3973T>C (p.Cys1325Arg) c.3325T>C (p.Cys1109Arg) c.4045T>C (p.Cys1349Arg) | |
17 | g.50185783A>T | CA400191191 | COL1A1 | c.4243T>A (p.Cys1415Ser) c.3973T>A (p.Cys1325Ser) c.3325T>A (p.Cys1109Ser) c.4045T>A (p.Cys1349Ser) | |
17 | g.50185784G>A | CA500991513 | COL1A1 | c.4242C>T (p.Gly1414=) c.3972C>T (p.Gly1324=) c.3324C>T (p.Gly1108=) c.4044C>T (p.Gly1348=) | ClinVar |
17 | g.50185784G>C | CA500991514 | COL1A1 | c.4242C>G (p.Gly1414=) c.3972C>G (p.Gly1324=) c.3324C>G (p.Gly1108=) c.4044C>G (p.Gly1348=) | |
17 | g.50185784G>T | CA500991515 | COL1A1 | c.4242C>A (p.Gly1414=) c.3972C>A (p.Gly1324=) c.3324C>A (p.Gly1108=) c.4044C>A (p.Gly1348=) | |
17 | g.50185785C>A | CA400191199 | COL1A1 | c.4241G>T (p.Gly1414Val) c.3971G>T (p.Gly1324Val) c.3323G>T (p.Gly1108Val) c.4043G>T (p.Gly1348Val) | ClinVar |
17 | g.50185785C= | CA2263913847 | COL1A1 | c.4241G= (p.Gly1414=) c.3971G= (p.Gly1324=) c.3323G= (p.Gly1108=) c.4043G= (p.Gly1348=) | |
17 | g.50185785C>G | CA400191208 | COL1A1 | c.4241G>C (p.Gly1414Ala) c.3971G>C (p.Gly1324Ala) c.3323G>C (p.Gly1108Ala) c.4043G>C (p.Gly1348Ala) | |
17 | g.50185785C>T | CA400191211 | COL1A1 | c.4241G>A (p.Gly1414Asp) c.3971G>A (p.Gly1324Asp) c.3323G>A (p.Gly1108Asp) c.4043G>A (p.Gly1348Asp) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185786C>A | CA400191215 | COL1A1 | c.4240G>T (p.Gly1414Cys) c.3970G>T (p.Gly1324Cys) c.3322G>T (p.Gly1108Cys) c.4042G>T (p.Gly1348Cys) | |
17 | g.50185786C>G | CA400191218 | COL1A1 | c.4240G>C (p.Gly1414Arg) c.3970G>C (p.Gly1324Arg) c.3322G>C (p.Gly1108Arg) c.4042G>C (p.Gly1348Arg) | |
17 | g.50185786C>T | CA400191222 | COL1A1 | c.4240G>A (p.Gly1414Ser) c.3970G>A (p.Gly1324Ser) c.3322G>A (p.Gly1108Ser) c.4042G>A (p.Gly1348Ser) | |
17 | g.50185787A= | CA2263913848 | COL1A1 | c.4239T= (p.Asp1413=) c.3969T= (p.Asp1323=) c.3321T= (p.Asp1107=) c.4041T= (p.Asp1347=) | |
17 | g.50185787A>C | CA400191228 | COL1A1 | c.4239T>G (p.Asp1413Glu) c.3969T>G (p.Asp1323Glu) c.3321T>G (p.Asp1107Glu) c.4041T>G (p.Asp1347Glu) | |
17 | g.50185787A>G | CA8644220 | COL1A1 | c.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 |
17 | g.50185787A>T | CA400191234 | COL1A1 | c.4239T>A (p.Asp1413Glu) c.3969T>A (p.Asp1323Glu) c.3321T>A (p.Asp1107Glu) c.4041T>A (p.Asp1347Glu) | ClinVar dbSNP |
17 | g.50185788T>A | CA400191238 | COL1A1 | c.4238A>T (p.Asp1413Val) c.3968A>T (p.Asp1323Val) c.3320A>T (p.Asp1107Val) c.4040A>T (p.Asp1347Val) | |
17 | g.50185788T>C | CA400191242 | COL1A1 | c.4238A>G (p.Asp1413Gly) c.3968A>G (p.Asp1323Gly) c.3320A>G (p.Asp1107Gly) c.4040A>G (p.Asp1347Gly) | ClinVar dbSNP |
17 | g.50185788T>G | CA400191245 | COL1A1 | c.4238A>C (p.Asp1413Ala) c.3968A>C (p.Asp1323Ala) c.3320A>C (p.Asp1107Ala) c.4040A>C (p.Asp1347Ala) | |
17 | g.50185789C>A | CA400191258 | COL1A1 | c.4237G>T (p.Asp1413Tyr) c.3967G>T (p.Asp1323Tyr) c.3319G>T (p.Asp1107Tyr) c.4039G>T (p.Asp1347Tyr) | |
17 | g.50185789C= | CA2263913849 | COL1A1 | c.4237G= (p.Asp1413=) c.3967G= (p.Asp1323=) c.3319G= (p.Asp1107=) c.4039G= (p.Asp1347=) | |
17 | g.50185789C>G | CA400191252 | COL1A1 | c.4237G>C (p.Asp1413His) c.3967G>C (p.Asp1323His) c.3319G>C (p.Asp1107His) c.4039G>C (p.Asp1347His) | |
17 | g.50185789C>T | CA291542789 | COL1A1 | c.4237G>A (p.Asp1413Asn) c.3967G>A (p.Asp1323Asn) c.3319G>A (p.Asp1107Asn) c.4039G>A (p.Asp1347Asn) | ClinVar dbSNP |
17 | g.50185791_50185799del | CA2695226436 | COL1A1 | c.4229_4237del (p.Val1410_Val1412del) c.3959_3967del (p.Val1320_Val1322del) c.3311_3319del (p.Val1104_Val1106del) c.4031_4039del (p.Val1344_Val1346del) | |
17 | g.50185790G>A | CA8644221 | COL1A1 | c.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 |
17 | g.50185790G>C | CA500991520 | COL1A1 | c.4236C>G (p.Val1412=) c.3966C>G (p.Val1322=) c.3318C>G (p.Val1106=) c.4038C>G (p.Val1346=) | gnomAD v4 |
17 | g.50185790G= | CA2263913850 | COL1A1 | c.4236C= (p.Val1412=) c.3966C= (p.Val1322=) c.3318C= (p.Val1106=) c.4038C= (p.Val1346=) | |
17 | g.50185790G>T | CA8644222 | COL1A1 | c.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 |
17 | g.50185791A= | CA2263913851 | COL1A1 | c.4235T= (p.Val1412=) c.3965T= (p.Val1322=) c.3317T= (p.Val1106=) c.4037T= (p.Val1346=) | |
17 | g.50185791A>C | CA400191274 | COL1A1 | c.4235T>G (p.Val1412Gly) c.3965T>G (p.Val1322Gly) c.3317T>G (p.Val1106Gly) c.4037T>G (p.Val1346Gly) | |
17 | g.50185791A>G | CA400191279 | COL1A1 | c.4235T>C (p.Val1412Ala) c.3965T>C (p.Val1322Ala) c.3317T>C (p.Val1106Ala) c.4037T>C (p.Val1346Ala) | dbSNP gnomAD v4 |
17 | g.50185791A>T | CA400191281 | COL1A1 | c.4235T>A (p.Val1412Asp) c.3965T>A (p.Val1322Asp) c.3317T>A (p.Val1106Asp) c.4037T>A (p.Val1346Asp) | |
17 | g.50185792C>A | CA400191286 | COL1A1 | c.4234G>T (p.Val1412Phe) c.3964G>T (p.Val1322Phe) c.3316G>T (p.Val1106Phe) c.4036G>T (p.Val1346Phe) | |
17 | g.50185792C= | CA2263913852 | COL1A1 | c.4234G= (p.Val1412=) c.3964G= (p.Val1322=) c.3316G= (p.Val1106=) c.4036G= (p.Val1346=) | |
17 | g.50185792C>G | CA400191292 | COL1A1 | c.4234G>C (p.Val1412Leu) c.3964G>C (p.Val1322Leu) c.3316G>C (p.Val1106Leu) c.4036G>C (p.Val1346Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185792C>T | CA400191294 | COL1A1 | c.4234G>A (p.Val1412Ile) c.3964G>A (p.Val1322Ile) c.3316G>A (p.Val1106Ile) c.4036G>A (p.Val1346Ile) | |
17 | g.50185793A>C | CA500991522 | COL1A1 | c.4233T>G (p.Thr1411=) c.3963T>G (p.Thr1321=) c.3315T>G (p.Thr1105=) c.4035T>G (p.Thr1345=) | |
17 | g.50185793A>G | CA500991523 | COL1A1 | c.4233T>C (p.Thr1411=) c.3963T>C (p.Thr1321=) c.3315T>C (p.Thr1105=) c.4035T>C (p.Thr1345=) | |
17 | g.50185793A>T | CA500991524 | COL1A1 | c.4233T>A (p.Thr1411=) c.3963T>A (p.Thr1321=) c.3315T>A (p.Thr1105=) c.4035T>A (p.Thr1345=) | |
17 | g.50185794G>A | CA400191299 | COL1A1 | c.4232C>T (p.Thr1411Ile) c.3962C>T (p.Thr1321Ile) c.3314C>T (p.Thr1105Ile) c.4034C>T (p.Thr1345Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.50185794G>C | CA400191304 | COL1A1 | c.4232C>G (p.Thr1411Ser) c.3962C>G (p.Thr1321Ser) c.3314C>G (p.Thr1105Ser) c.4034C>G (p.Thr1345Ser) | |
17 | g.50185794G= | CA2263913853 | COL1A1 | c.4232C= (p.Thr1411=) c.3962C= (p.Thr1321=) c.3314C= (p.Thr1105=) c.4034C= (p.Thr1345=) | |
17 | g.50185794G>T | CA400191307 | COL1A1 | c.4232C>A (p.Thr1411Asn) c.3962C>A (p.Thr1321Asn) c.3314C>A (p.Thr1105Asn) c.4034C>A (p.Thr1345Asn) | gnomAD v4 |
17 | g.50185795T>A | CA400191334 | COL1A1 | c.4231A>T (p.Thr1411Ser) c.3961A>T (p.Thr1321Ser) c.3313A>T (p.Thr1105Ser) c.4033A>T (p.Thr1345Ser) | |
17 | g.50185795T>C | CA400191328 | COL1A1 | c.4231A>G (p.Thr1411Ala) c.3961A>G (p.Thr1321Ala) c.3313A>G (p.Thr1105Ala) c.4033A>G (p.Thr1345Ala) | |
17 | g.50185795T>G | CA400191323 | COL1A1 | c.4231A>C (p.Thr1411Pro) c.3961A>C (p.Thr1321Pro) c.3313A>C (p.Thr1105Pro) c.4033A>C (p.Thr1345Pro) | |
17 | g.50185796G>A | CA500991527 | COL1A1 | c.4230C>T (p.Val1410=) c.3960C>T (p.Val1320=) c.3312C>T (p.Val1104=) c.4032C>T (p.Val1344=) | gnomAD v4 |
17 | g.50185796G>C | CA500991526 | COL1A1 | c.4230C>G (p.Val1410=) c.3960C>G (p.Val1320=) c.3312C>G (p.Val1104=) c.4032C>G (p.Val1344=) | |
17 | g.50185796G>T | CA500991528 | COL1A1 | c.4230C>A (p.Val1410=) c.3960C>A (p.Val1320=) c.3312C>A (p.Val1104=) c.4032C>A (p.Val1344=) | |
17 | g.50185797A>C | CA400191336 | COL1A1 | c.4229T>G (p.Val1410Gly) c.3959T>G (p.Val1320Gly) c.3311T>G (p.Val1104Gly) c.4031T>G (p.Val1344Gly) | |
17 | g.50185797A>G | CA400191345 | COL1A1 | c.4229T>C (p.Val1410Ala) c.3959T>C (p.Val1320Ala) c.3311T>C (p.Val1104Ala) c.4031T>C (p.Val1344Ala) | |
17 | g.50185797A>T | CA400191342 | COL1A1 | c.4229T>A (p.Val1410Asp) c.3959T>A (p.Val1320Asp) c.3311T>A (p.Val1104Asp) c.4031T>A (p.Val1344Asp) | |
17 | g.50185798C>A | CA400191350 | COL1A1 | c.4228G>T (p.Val1410Phe) c.3958G>T (p.Val1320Phe) c.3310G>T (p.Val1104Phe) c.4030G>T (p.Val1344Phe) | |
17 | g.50185798C= | CA2263913854 | COL1A1 | c.4228G= (p.Val1410=) c.3958G= (p.Val1320=) c.3310G= (p.Val1104=) c.4030G= (p.Val1344=) | |
17 | g.50185798C>G | CA400191355 | COL1A1 | c.4228G>C (p.Val1410Leu) c.3958G>C (p.Val1320Leu) c.3310G>C (p.Val1104Leu) c.4030G>C (p.Val1344Leu) | gnomAD v4 |
17 | g.50185798C>T | CA8644223 | COL1A1 | c.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 |
17 | g.50185799G>A | CA8644224 | COL1A1 | c.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 |
17 | g.50185799G>C | CA400191366 | COL1A1 | c.4227C>G (p.Ser1409Arg) c.3957C>G (p.Ser1319Arg) c.3309C>G (p.Ser1103Arg) c.4029C>G (p.Ser1343Arg) | |
17 | g.50185799G= | CA2263913855 | COL1A1 | c.4227C= (p.Ser1409=) c.3957C= (p.Ser1319=) c.3309C= (p.Ser1103=) c.4029C= (p.Ser1343=) | |
17 | g.50185799G>T | CA400191370 | COL1A1 | c.4227C>A (p.Ser1409Arg) c.3957C>A (p.Ser1319Arg) c.3309C>A (p.Ser1103Arg) c.4029C>A (p.Ser1343Arg) | |
17 | g.50185800C>A | CA400191382 | COL1A1 | c.4226G>T (p.Ser1409Ile) c.3956G>T (p.Ser1319Ile) c.3308G>T (p.Ser1103Ile) c.4028G>T (p.Ser1343Ile) | ClinVar dbSNP gnomAD v4 |
17 | g.50185800C= | CA2263913856 | COL1A1 | c.4226G= (p.Ser1409=) c.3956G= (p.Ser1319=) c.3308G= (p.Ser1103=) c.4028G= (p.Ser1343=) | |
17 | g.50185800C>G | CA400191386 | COL1A1 | c.4226G>C (p.Ser1409Thr) c.3956G>C (p.Ser1319Thr) c.3308G>C (p.Ser1103Thr) c.4028G>C (p.Ser1343Thr) | |
17 | g.50185800C>T | CA400191390 | COL1A1 | c.4226G>A (p.Ser1409Asn) c.3956G>A (p.Ser1319Asn) c.3308G>A (p.Ser1103Asn) c.4028G>A (p.Ser1343Asn) | gnomAD v4 |
17 | g.50185801T>A | CA400191395 | COL1A1 | c.4225A>T (p.Ser1409Cys) c.3955A>T (p.Ser1319Cys) c.3307A>T (p.Ser1103Cys) c.4027A>T (p.Ser1343Cys) | |
17 | g.50185801T>C | CA400191399 | COL1A1 | c.4225A>G (p.Ser1409Gly) c.3955A>G (p.Ser1319Gly) c.3307A>G (p.Ser1103Gly) c.4027A>G (p.Ser1343Gly) | dbSNP gnomAD v4 |
17 | g.50185801T>G | CA400191402 | COL1A1 | c.4225A>C (p.Ser1409Arg) c.3955A>C (p.Ser1319Arg) c.3307A>C (p.Ser1103Arg) c.4027A>C (p.Ser1343Arg) | |
17 | g.50185801T= | CA2263913857 | COL1A1 | c.4225A= (p.Ser1409=) c.3955A= (p.Ser1319=) c.3307A= (p.Ser1103=) c.4027A= (p.Ser1343=) | |
17 | g.50185802G>A | CA8644225 | COL1A1 | c.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 |
17 | g.50185802G>C | CA400191405 | COL1A1 | c.4224C>G (p.Tyr1408Ter) c.3954C>G (p.Tyr1318Ter) c.3306C>G (p.Tyr1102Ter) c.4026C>G (p.Tyr1342Ter) | |
17 | g.50185802G= | CA2263913858 | COL1A1 | c.4224C= (p.Tyr1408=) c.3954C= (p.Tyr1318=) c.3306C= (p.Tyr1102=) c.4026C= (p.Tyr1342=) | |
17 | g.50185802G>T | CA400191409 | COL1A1 | c.4224C>A (p.Tyr1408Ter) c.3954C>A (p.Tyr1318Ter) c.3306C>A (p.Tyr1102Ter) c.4026C>A (p.Tyr1342Ter) | |
17 | g.50185803T>A | CA400191420 | COL1A1 | c.4223A>T (p.Tyr1408Phe) c.3953A>T (p.Tyr1318Phe) c.3305A>T (p.Tyr1102Phe) c.4025A>T (p.Tyr1342Phe) | |
17 | g.50185803T>C | CA400191423 | COL1A1 | c.4223A>G (p.Tyr1408Cys) c.3953A>G (p.Tyr1318Cys) c.3305A>G (p.Tyr1102Cys) c.4025A>G (p.Tyr1342Cys) | |
17 | g.50185803T>G | CA400191426 | COL1A1 | c.4223A>C (p.Tyr1408Ser) c.3953A>C (p.Tyr1318Ser) c.3305A>C (p.Tyr1102Ser) c.4025A>C (p.Tyr1342Ser) | |
17 | g.50185804A>C | CA400191432 | COL1A1 | c.4222T>G (p.Tyr1408Asp) c.3952T>G (p.Tyr1318Asp) c.3304T>G (p.Tyr1102Asp) c.4024T>G (p.Tyr1342Asp) | |
17 | g.50185804A>G | CA400191435 | COL1A1 | c.4222T>C (p.Tyr1408His) c.3952T>C (p.Tyr1318His) c.3304T>C (p.Tyr1102His) c.4024T>C (p.Tyr1342His) | |
17 | g.50185804A>T | CA400191437 | COL1A1 | c.4222T>A (p.Tyr1408Asn) c.3952T>A (p.Tyr1318Asn) c.3304T>A (p.Tyr1102Asn) c.4024T>A (p.Tyr1342Asn) | |
17 | g.50185805G>A | CA500991531 | COL1A1 | c.4221C>T (p.Thr1407=) c.3951C>T (p.Thr1317=) c.3303C>T (p.Thr1101=) c.4023C>T (p.Thr1341=) | |
17 | g.50185805G>C | CA500991532 | COL1A1 | c.4221C>G (p.Thr1407=) c.3951C>G (p.Thr1317=) c.3303C>G (p.Thr1101=) c.4023C>G (p.Thr1341=) | |
17 | g.50185805G>T | CA500991533 | COL1A1 | c.4221C>A (p.Thr1407=) c.3951C>A (p.Thr1317=) c.3303C>A (p.Thr1101=) c.4023C>A (p.Thr1341=) | |
17 | g.50185806G>A | CA400191442 | COL1A1 | c.4220C>T (p.Thr1407Ile) c.3950C>T (p.Thr1317Ile) c.3302C>T (p.Thr1101Ile) c.4022C>T (p.Thr1341Ile) | |
17 | g.50185806G>C | CA400191445 | COL1A1 | c.4220C>G (p.Thr1407Ser) c.3950C>G (p.Thr1317Ser) c.3302C>G (p.Thr1101Ser) c.4022C>G (p.Thr1341Ser) | |
17 | g.50185806G>T | CA400191449 | COL1A1 | c.4220C>A (p.Thr1407Asn) c.3950C>A (p.Thr1317Asn) c.3302C>A (p.Thr1101Asn) c.4022C>A (p.Thr1341Asn) | |
17 | g.50185807T>A | CA400191460 | COL1A1 | c.4219A>T (p.Thr1407Ser) c.3949A>T (p.Thr1317Ser) c.3301A>T (p.Thr1101Ser) c.4021A>T (p.Thr1341Ser) | |
17 | g.50185807T>C | CA400191463 | COL1A1 | c.4219A>G (p.Thr1407Ala) c.3949A>G (p.Thr1317Ala) c.3301A>G (p.Thr1101Ala) c.4021A>G (p.Thr1341Ala) | gnomAD v4 |
17 | g.50185807T>G | CA400191466 | COL1A1 | c.4219A>C (p.Thr1407Pro) c.3949A>C (p.Thr1317Pro) c.3301A>C (p.Thr1101Pro) c.4021A>C (p.Thr1341Pro) | |
17 | g.50185808G>A | CA500991537 | COL1A1 | c.4218C>T (p.Phe1406=) c.3948C>T (p.Phe1316=) c.3300C>T (p.Phe1100=) c.4020C>T (p.Phe1340=) | gnomAD v4 |
17 | g.50185808G>C | CA400191472 | COL1A1 | c.4218C>G (p.Phe1406Leu) c.3948C>G (p.Phe1316Leu) c.3300C>G (p.Phe1100Leu) c.4020C>G (p.Phe1340Leu) | |
17 | g.50185808G>T | CA400191475 | COL1A1 | c.4218C>A (p.Phe1406Leu) c.3948C>A (p.Phe1316Leu) c.3300C>A (p.Phe1100Leu) c.4020C>A (p.Phe1340Leu) | gnomAD v4 |